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Wyszukujesz frazę ""Muscular Diseases"" wg kryterium: Temat


Tytuł:
Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions.
Autorzy:
Zhong H; Department of Neurology, Huashan Rare Disease Center, Huashan Hospital, Fudan University, Shanghai, China. .
Sian V; Department of Precision Medicine, 'Luigi Vanvitelli' University of Campania, Via L. De Crecchio 7, Naples, Italy.
Johari M; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland.; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.
Katayama S; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland.; Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden.
Oghabian A; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Jonson PH; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland.
Hackman P; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland.
Savarese M; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland.
Udd B; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland.; Tampere Neuromuscular Center, University Hospital, Tampere, Finland.
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Źródło:
Communications biology [Commun Biol] 2024 Apr 10; Vol. 7 (1), pp. 438. Date of Electronic Publication: 2024 Apr 10.
Typ publikacji:
Journal Article
MeSH Terms:
Muscle, Skeletal*/metabolism
Muscular Diseases*/diagnosis
Muscular Diseases*/genetics
Muscular Diseases*/metabolism
Humans ; RNA/metabolism
Czasopismo naukowe
Tytuł:
Nesprin proteins: bridging nuclear envelope dynamics to muscular dysfunction.
Autorzy:
Zi-Yi Z; Department of Cardiology, Yichang Central People's Hospital, Yichang, 443003, Hubei, People's Republic of China.; School of Basic Medicine, China Three Gorges University, Yichang, 443000, Hubei, People's Republic of China.
Qin Q; Department of Cardiology, Yichang Central People's Hospital, Yichang, 443003, Hubei, People's Republic of China.; School of Basic Medicine, China Three Gorges University, Yichang, 443000, Hubei, People's Republic of China.
Fei Z; Department of Cardiology, Yichang Central People's Hospital, Yichang, 443003, Hubei, People's Republic of China.
Cun-Yu C; School of Basic Medicine, China Three Gorges University, Yichang, 443000, Hubei, People's Republic of China.; College of Basic Medical Sciences, Hubei Key Laboratory of Tumor Microencironment and immunotherapy, China Three Gorges University, Yichang, 443000, Hubei, People's Republic of China.
Lin T; Department of Cardiology, Yichang Central People's Hospital, Yichang, 443003, Hubei, People's Republic of China. .; King's College London British Heart Foundation Centre of Research Excellence, School of Cardiovascular and Metabolic Medicine & Sciences, London, SE5 9NU, UK. .
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Źródło:
Cell communication and signaling : CCS [Cell Commun Signal] 2024 Apr 02; Vol. 22 (1), pp. 208. Date of Electronic Publication: 2024 Apr 02.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Muscular Diseases*/metabolism
Muscular Dystrophy, Emery-Dreifuss*/genetics
Muscular Dystrophy, Emery-Dreifuss*/metabolism
Muscular Dystrophy, Emery-Dreifuss*/pathology
Humans ; Nuclear Envelope/metabolism ; Nuclear Envelope/pathology ; Nuclear Proteins/genetics ; Nuclear Proteins/metabolism ; Nerve Tissue Proteins/metabolism ; Cytoskeleton/metabolism
Czasopismo naukowe
Tytuł:
Pathological findings with vacuoles in anti-mitochondrial antibody-positive inflammatory myopathy.
Autorzy:
Chen Y; Department of Neurology, Peking University First Hospital, No.8 Xishiku Street, Xicheng District, Beijing, 100034, China.; Department of Radiology, Peking University First Hospital, No.8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Zhang W; Department of Neurology, Peking University First Hospital, No.8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Lv H; Department of Neurology, Peking University First Hospital, No.8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Wang Z; Department of Neurology, Peking University First Hospital, No.8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Hao H; Department of Neurology, Peking University First Hospital, No.8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Yuan Y; Department of Neurology, Peking University First Hospital, No.8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Zheng Y; Department of Neurology, Peking University First Hospital, No.8 Xishiku Street, Xicheng District, Beijing, 100034, China. .
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Źródło:
BMC musculoskeletal disorders [BMC Musculoskelet Disord] 2024 Apr 02; Vol. 25 (1), pp. 257. Date of Electronic Publication: 2024 Apr 02.
Typ publikacji:
Journal Article
MeSH Terms:
Myositis*/complications
Myositis*/diagnostic imaging
Myositis*/drug therapy
Muscular Diseases*/diagnostic imaging
Muscular Diseases*/pathology
Middle Aged ; Humans ; Vacuoles/pathology ; Retrospective Studies ; Muscle, Skeletal/pathology ; Antibodies/therapeutic use ; Anti-Inflammatory Agents/therapeutic use ; Autoantibodies
Czasopismo naukowe
Tytuł:
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Autorzy:
Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
O'Leary M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Bonner DE; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.; Department of Pediatrics, Medical Genetics, Stanford University School of Medicine, Stanford, California, USA.
Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Acquaye N; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Brull A; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Mozaffar T; Department of Neurology, University of California, Irvine, California, USA.; Department of Pathology & Laboratory Medicine, University of California, Irvine, California, USA.
Saporta MA; Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA.
Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Sampson JB; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.; Department of Neurology, Stanford University School of Medicine, Stanford, California, USA.
Pajusalu S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Austin-Tse C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Hurth K; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Cohen JS; Department of Neurology and Developmental Medicine, Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
McWalter K; GeneDx, Gaithersburg, Maryland, USA.
Warman-Chardon J; Department of Medicine, The Ottawa Hospital, University of Ottawa, Ottawa, Ontario, Canada.
Crunk A; GeneDx, Gaithersburg, Maryland, USA.
Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Mammen AL; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Muscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Wheeler MT; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California, USA.
O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
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Corporate Authors:
Undiagnosed Diseases Network
Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Mar; Vol. 11 (3), pp. 629-640. Date of Electronic Publication: 2024 Feb 04.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Diseases*/genetics
Muscular Diseases*/pathology
Cardiomyopathies*
Adult ; Humans ; Muscle, Skeletal/diagnostic imaging ; Muscle, Skeletal/pathology ; Actinin/genetics ; Phenotype
Czasopismo naukowe
Tytuł:
Spatial transcriptomics reveals alterations in perivascular macrophage lipid metabolism in the onset of Wooden Breast myopathy in broiler chickens.
Autorzy:
Wang Z; Department of Animal and Food Sciences, University of Delaware, Newark, DE, USA.
Khondowe P; Department of Animal and Food Sciences, University of Delaware, Newark, DE, USA.
Brannick E; Department of Animal and Food Sciences, University of Delaware, Newark, DE, USA.
Abasht B; Department of Animal and Food Sciences, University of Delaware, Newark, DE, USA. .
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Źródło:
Scientific reports [Sci Rep] 2024 Feb 11; Vol. 14 (1), pp. 3450. Date of Electronic Publication: 2024 Feb 11.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Diseases*/genetics
Muscular Diseases*/veterinary
Muscular Diseases*/metabolism
Myositis*/metabolism
Poultry Diseases*/genetics
Animals ; Chickens/genetics ; Chickens/metabolism ; Lipid Metabolism/genetics ; Gene Expression Profiling ; Pectoralis Muscles/pathology ; Lipids
Czasopismo naukowe
Tytuł:
Nephrotic syndrome with rectus sheath hematoma: a case report.
Autorzy:
Fujii A; Department of Nephrology, Kanazawa Medical University School of Medicine, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa, 920-0293, Japan.; Keiju Medical Center, Nanao, Japan.
Matsuda Y; Keiju Medical Center, Nanao, Japan.
Yabe T; Department of Nephrology, Kanazawa Medical University School of Medicine, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa, 920-0293, Japan.
Norifumi H; Department of Nephrology, Kanazawa Medical University School of Medicine, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa, 920-0293, Japan.
Fujimoto K; Department of Nephrology, Kanazawa Medical University School of Medicine, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa, 920-0293, Japan.
Yamazaki M; Keiju Medical Center, Nanao, Japan.
Yokoyama H; Department of Nephrology, Kanazawa Medical University School of Medicine, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa, 920-0293, Japan.
Furuichi K; Department of Nephrology, Kanazawa Medical University School of Medicine, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa, 920-0293, Japan. .
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Źródło:
Journal of medical case reports [J Med Case Rep] 2024 Mar 10; Vol. 18 (1), pp. 148. Date of Electronic Publication: 2024 Mar 10.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Nephrotic Syndrome*/complications
Muscular Diseases*/diagnosis
Female ; Humans ; Aged ; Rectus Abdominis/diagnostic imaging ; Anticoagulants/adverse effects ; Hematoma/chemically induced ; Hematoma/diagnostic imaging ; Hematoma/therapy ; Abdominal Pain/chemically induced ; Steroids
Czasopismo naukowe
Tytuł:
Non-Canonical Localization of Cardiac Troponins: Expanding Functions or Causing Pathologies?
Autorzy:
Arifulin EA; Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, 119991 Moscow, Russia.
Sheval EV; Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, 119991 Moscow, Russia.; Department of Cell Biology and Histology, School of Biology, Lomonosov Moscow State University, 119991 Moscow, Russia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Mar 08; Vol. 25 (6). Date of Electronic Publication: 2024 Mar 08.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Troponin T*
Muscular Diseases*
Humans ; Troponin I ; Myofibrils ; Biomarkers
Czasopismo naukowe
Tytuł:
The effect of respiratory muscle training on respiratory muscle strength, diaphragm thickness/mobility, and exercise capacity in patients with systemic lupus erythematosus and associated shrinking lung syndrome.
Autorzy:
Sari F; Department of Physiotherapy and Rehabilitation, Faculty of Physical Therapy and Rehabilitation, Bingol University, Bingol, Turkey.
Oskay D; Department of Physiotherapy and Rehabilitation, Faculty of Health Sciences, Gazi University, Ankara, Turkey.
Tufan A; Inflamatuar Disease Section, National Human Genome Research Institute, Rockville Pike, MD, USA.
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Źródło:
Lupus [Lupus] 2024 Mar; Vol. 33 (3), pp. 289-292. Date of Electronic Publication: 2024 Jan 09.
Typ publikacji:
Journal Article
MeSH Terms:
Lupus Erythematosus, Systemic*/complications
Lupus Erythematosus, Systemic*/therapy
Lung Diseases*/etiology
Muscular Diseases*
Humans ; Diaphragm/diagnostic imaging ; Exercise Tolerance/physiology ; Respiratory Muscles ; Breathing Exercises/adverse effects ; Muscle Strength/physiology ; Lung
Czasopismo naukowe
Tytuł:
Nuclear pore pathology underlying multisystem proteinopathy type 3-related inclusion body myopathy.
Autorzy:
Izumi R; Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Ikeda K; Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.
Niihori T; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Suzuki N; Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.
Shirota M; Division of Interdisciplinary Medical Science, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
Funayama R; Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
Nakayama K; Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
Warita H; Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.
Tateyama M; Department of Neurology, National Hospital Organization Iwate Hospital, Ichinoseki, Japan.
Aoki Y; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Aoki M; Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Mar; Vol. 11 (3), pp. 577-592. Date of Electronic Publication: 2023 Dec 29.
Typ publikacji:
Journal Article
MeSH Terms:
Heterogeneous-Nuclear Ribonucleoprotein Group A-B*/genetics
Heterogeneous-Nuclear Ribonucleoprotein Group A-B*/metabolism
Amyotrophic Lateral Sclerosis*/genetics
Muscular Diseases*/metabolism
Humans ; Nuclear Pore/metabolism ; Nuclear Pore/pathology ; Muscle, Skeletal/metabolism ; Inclusion Bodies/metabolism ; Inclusion Bodies/pathology ; Nuclear Pore Complex Proteins/genetics ; Nuclear Pore Complex Proteins/metabolism
Czasopismo naukowe
Tytuł:
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.
Autorzy:
Lehtonen J; Centre for Molecular Medicine Norway (NCMM), University of Oslo, Oslo, Norway.; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland.; Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Sulonen AM; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Almusa H; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Lehtokari VL; Folkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland.; Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Johari M; Folkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland.; Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.
Palva A; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Hakonen AH; Clinical Genetics, Helsinki University Hospital, Helsinki, Finland.
Wartiovaara K; Clinical Genetics, Helsinki University Hospital, Helsinki, Finland.
Lehesjoki AE; Folkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland.; Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Udd B; Folkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland.; Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Wallgren-Pettersson C; Folkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland.; Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Pelin K; Folkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland.; Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Molecular and Integrative Biosciences Research Programme, Faculty of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland.
Savarese M; Folkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland.; Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Saarela J; Centre for Molecular Medicine Norway (NCMM), University of Oslo, Oslo, Norway. .; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland. .; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway. .
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Źródło:
Scientific reports [Sci Rep] 2024 Feb 21; Vol. 14 (1), pp. 4306. Date of Electronic Publication: 2024 Feb 21.
Typ publikacji:
Journal Article
MeSH Terms:
Neuromuscular Diseases*/diagnosis
Neuromuscular Diseases*/genetics
Muscular Diseases*
Myopathies, Nemaline*
Humans ; Haplotypes/genetics ; DNA ; High-Throughput Nucleotide Sequencing
Czasopismo naukowe
Tytuł:
Alcohol Impairs Bioenergetics and Differentiation Capacity of Myoblasts from Simian Immunodeficiency Virus-Infected Female Macaques.
Autorzy:
Levitt DE; Department of Physiology, School of Medicine, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA.; Comprehensive Alcohol-HIV/AIDS Research Center, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA.; Department of Kinesiology and Sport Management, Texas Tech University, Lubbock, TX 79409, USA.
Bourgeois BL; Department of Physiology, School of Medicine, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA.; Comprehensive Alcohol-HIV/AIDS Research Center, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA.
Rodríguez-Graciani KM; Department of Physiology, School of Medicine, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA.; Comprehensive Alcohol-HIV/AIDS Research Center, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA.
Molina PE; Department of Physiology, School of Medicine, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA.; Comprehensive Alcohol-HIV/AIDS Research Center, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA.
Simon L; Department of Physiology, School of Medicine, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA.; Comprehensive Alcohol-HIV/AIDS Research Center, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Feb 19; Vol. 25 (4). Date of Electronic Publication: 2024 Feb 19.
Typ publikacji:
Journal Article
MeSH Terms:
Simian Immunodeficiency Virus*
Simian Acquired Immunodeficiency Syndrome*/complications
Binge Drinking*
Muscular Diseases*/complications
Female ; Animals ; Male ; Macaca mulatta ; Reactive Oxygen Species ; Ethanol/pharmacology ; Myoblasts ; Energy Metabolism ; Viral Load
Czasopismo naukowe
Tytuł:
The Effects of Aging on Sarcoplasmic Reticulum-Related Factors in the Skeletal Muscle of Mice.
Autorzy:
Kanazawa Y; Department of Physical Therapy, Hokuriku University, Kanazawa 920-1180, Ishikawa, Japan.; Department of Anatomy and Neurobiology, Faculty of Medicine, Kindai University, Osakasayama 589-8511, Osaka, Japan.
Takahashi T; Department of Clinical Pharmacology, Hokuriku University, Kanazawa 920-1181, Ishikawa, Japan.
Nagano M; Department of Anatomy and Neurobiology, Faculty of Medicine, Kindai University, Osakasayama 589-8511, Osaka, Japan.
Koinuma S; Department of Anatomy and Neurobiology, Faculty of Medicine, Kindai University, Osakasayama 589-8511, Osaka, Japan.
Shigeyoshi Y; Department of Anatomy and Neurobiology, Faculty of Medicine, Kindai University, Osakasayama 589-8511, Osaka, Japan.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Feb 10; Vol. 25 (4). Date of Electronic Publication: 2024 Feb 10.
Typ publikacji:
Journal Article
MeSH Terms:
Sarcoplasmic Reticulum*/metabolism
Muscular Diseases*/metabolism
Mice ; Male ; Animals ; Calcium/metabolism ; Mice, Inbred C57BL ; Muscle, Skeletal/metabolism ; Sarcoplasmic Reticulum Calcium-Transporting ATPases/metabolism ; Aging/metabolism
Czasopismo naukowe
Tytuł:
Changes in ocular extorsion after horizontal muscle surgery in patients with intermittent exotropia coexisting with hypertropia and mild inferior oblique overaction.
Autorzy:
Lee SJ; Department of Ophthalmology, Daegu Catholic University School of Medicine, Daegu, Korea.
Yoon SH; Department of Ophthalmology, Daegu Catholic University School of Medicine, Daegu, Korea.
Kim SY; Department of Ophthalmology, Daegu Catholic University School of Medicine, Daegu, Korea.
Lee D; Department of Ophthalmology, Daegu Catholic University School of Medicine, Daegu, Korea.
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Źródło:
PloS one [PLoS One] 2024 Feb 05; Vol. 19 (2), pp. e0297427. Date of Electronic Publication: 2024 Feb 05 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Exotropia*/surgery
Strabismus*/surgery
Strabismus*/complications
Ocular Motility Disorders*
Muscular Diseases*/complications
Humans ; Retrospective Studies ; Oculomotor Muscles/surgery ; Ophthalmologic Surgical Procedures ; Chronic Disease ; Treatment Outcome ; Vision, Binocular/physiology
Czasopismo naukowe
Tytuł:
Unveiling the Rare Complication: Statin-Induced Immune-Mediated Necrotizing Myopathy.
Autorzy:
Chowdhury FH; Department of Internal Medicine, Manatee Memorial Hospital, Bradenton, FL, USA.
Mahneva O; Lake Erie College of Osteopathic Medicine, Bradenton, FL, USA.
Maharaj M; Department of Internal Medicine, Manatee Memorial Hospital, Bradenton, FL, USA.
Marciales W; Department of Internal Medicine, Manatee Memorial Hospital, Bradenton, FL, USA.
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Źródło:
The American journal of case reports [Am J Case Rep] 2023 Dec 13; Vol. 24, pp. e941387. Date of Electronic Publication: 2023 Dec 13.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Hydroxymethylglutaryl-CoA Reductase Inhibitors*/adverse effects
Autoimmune Diseases*/drug therapy
Myositis*/chemically induced
Myositis*/diagnosis
Myositis*/drug therapy
Muscular Diseases*/chemically induced
Muscular Diseases*/diagnosis
Female ; Humans ; Middle Aged ; Atorvastatin/adverse effects ; Autoantibodies ; Muscle Weakness ; Adrenal Cortex Hormones/therapeutic use
Czasopismo naukowe
Tytuł:
WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.
Autorzy:
Strauss KA; Clinic for Special Children, Strasburg, Pennsylvania, USA.; Department of Pediatrics, Penn Medicine-Lancaster General Hospital, Pennsylvania, Lancaster, USA.; Department of Pediatrics, UMass Chan Medical School, Worcester, Massachusetts, USA.; Department of Molecular, Cell & Cancer Biology, UMass Chan Medical School, Worcester, Massachusetts, USA.
Carson VJ; Clinic for Special Children, Strasburg, Pennsylvania, USA.; Department of Pediatrics, Penn Medicine-Lancaster General Hospital, Pennsylvania, Lancaster, USA.
Bolettieri E; Clinic for Special Children, Strasburg, Pennsylvania, USA.
Everett M; Clinic for Special Children, Strasburg, Pennsylvania, USA.
Bollinger A; Clinic for Special Children, Strasburg, Pennsylvania, USA.
Bowser LE; Clinic for Special Children, Strasburg, Pennsylvania, USA.
Beiler K; Clinic for Special Children, Strasburg, Pennsylvania, USA.
Young M; Clinic for Special Children, Strasburg, Pennsylvania, USA.
Edvardson S; ALYN Hospital Pediatric and Adolescent Rehabilitation Center, Jerusalem, Israel.
Fraenkel N; ALYN Hospital Pediatric and Adolescent Rehabilitation Center, Jerusalem, Israel.
D'Amico A; Unit of Muscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Bertini E; Unit of Muscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Lingappa L; Department of Pediatric Neurology, Rainbow Children's Hospital, Hyderabad, India.
Chowdhury D; Cardiology Care for Children, Lancaster, Pennsylvania, USA.; Department of Cardiology, Nemours Children's Health, Wilmington, Delaware, USA.
Lowes LP; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, USA.
Iammarino M; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, USA.
Alfano LN; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, USA.
Brigatti KW; Clinic for Special Children, Strasburg, Pennsylvania, USA.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Nov; Vol. 10 (11), pp. 1972-1984. Date of Electronic Publication: 2023 Aug 25.
Typ publikacji:
Observational Study; Journal Article
MeSH Terms:
Muscle, Skeletal*/pathology
Muscular Diseases*/genetics
Muscular Diseases*/pathology
Child ; Humans ; Infant ; Child, Preschool ; Adolescent ; Cross-Sectional Studies ; Prospective Studies ; Respiration, Artificial
Czasopismo naukowe
Tytuł:
Mitochondrial Homeostasis Regulating Mitochondrial Number and Morphology Is a Distinguishing Feature of Skeletal Muscle Fiber Types in Marine Teleosts.
Autorzy:
Li B; National Key Laboratory of Mariculture Biobreeding and Sustainable Goods, Yellow Sea Fisheries Research Institute, Chinese Academy of Fishery Sciences, Qingdao 266071, China.; Laboratory for Marine Fisheries Science and Food Production Processes, Laoshan Laboratory, Qingdao 266237, China.
Wang H; National Key Laboratory of Mariculture Biobreeding and Sustainable Goods, Yellow Sea Fisheries Research Institute, Chinese Academy of Fishery Sciences, Qingdao 266071, China.
Zeng X; National Key Laboratory of Mariculture Biobreeding and Sustainable Goods, Yellow Sea Fisheries Research Institute, Chinese Academy of Fishery Sciences, Qingdao 266071, China.
Liu S; National Key Laboratory of Mariculture Biobreeding and Sustainable Goods, Yellow Sea Fisheries Research Institute, Chinese Academy of Fishery Sciences, Qingdao 266071, China.; Laboratory for Marine Fisheries Science and Food Production Processes, Laoshan Laboratory, Qingdao 266237, China.
Zhuang Z; National Key Laboratory of Mariculture Biobreeding and Sustainable Goods, Yellow Sea Fisheries Research Institute, Chinese Academy of Fishery Sciences, Qingdao 266071, China.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Jan 26; Vol. 25 (3). Date of Electronic Publication: 2024 Jan 26.
Typ publikacji:
Journal Article
MeSH Terms:
Muscle Fibers, Skeletal*/metabolism
Muscular Diseases*/metabolism
Humans ; Mitochondria/metabolism ; Muscle, Skeletal/metabolism ; Homeostasis
Czasopismo naukowe
Tytuł:
The knowledge of movement experts about stretching effects: Does the science reach practice?
Autorzy:
Warneke K; Institute of Sport Science, Alpen-Adria-University Klagenfurt, Klagenfurt am Wörthersee, Austria.
Konrad A; Institute of Human Movement Science, Sport and Health, University of Graz, Graz, Austria.
Wilke J; Institute of Sport Science, Alpen-Adria-University Klagenfurt, Klagenfurt am Wörthersee, Austria.
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Źródło:
PloS one [PLoS One] 2024 Jan 26; Vol. 19 (1), pp. e0295571. Date of Electronic Publication: 2024 Jan 26 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Diseases*/prevention & control
Sports*/physiology
Humans ; Male ; Female ; Exercise/physiology ; Surveys and Questionnaires ; Forecasting
Czasopismo naukowe
Tytuł:
Differential expression of miRNAs associated with pectoral myopathies in young broilers: insights from a comparative transcriptome analysis.
Autorzy:
Pizzol MSD; Programa de Pós-Graduação em Zootecnia, Universidade do Estado de Santa Catarina, UDESC-Oeste, Chapecó, Santa Catarina, Brazil.
Ibelli AMG; Embrapa Suínos e Aves, Concórdia, Santa Catarina, Brazil.; Programa de Pós-Graduação em Ciências Veterinárias, Universidade Estadual do Centro Oeste, Guarapuava, Paraná, Brazil.; Present Address: Embrapa Pecuária Sudeste, São Carlos, São Paulo, Brazil.
Cantão ME; Embrapa Suínos e Aves, Concórdia, Santa Catarina, Brazil.
Campos FG; Departamento de Zootecnia, Programa de Pós- Graduação em Zootecnia, Universidade Federal de Viçosa, Viçosa, Minas Gerais, Brazil.
de Oliveira HC; Departamento de Zootecnia, Programa de Pós- Graduação em Zootecnia, Universidade Federal de Viçosa, Viçosa, Minas Gerais, Brazil.
de Oliveira Peixoto J; Embrapa Suínos e Aves, Concórdia, Santa Catarina, Brazil.; Programa de Pós-Graduação em Ciências Veterinárias, Universidade Estadual do Centro Oeste, Guarapuava, Paraná, Brazil.
Fernandes LT; Embrapa Suínos e Aves, Concórdia, Santa Catarina, Brazil.
de Castro Tavernari F; Programa de Pós-Graduação em Zootecnia, Universidade do Estado de Santa Catarina, UDESC-Oeste, Chapecó, Santa Catarina, Brazil.; Embrapa Suínos e Aves, Concórdia, Santa Catarina, Brazil.
Morés MAZ; Embrapa Suínos e Aves, Concórdia, Santa Catarina, Brazil.
Bastos APA; Embrapa Suínos e Aves, Concórdia, Santa Catarina, Brazil.; Programa de Pós-Graduação em Ciências Veterinárias, Universidade Estadual do Centro Oeste, Guarapuava, Paraná, Brazil.
Ledur MC; Programa de Pós-Graduação em Zootecnia, Universidade do Estado de Santa Catarina, UDESC-Oeste, Chapecó, Santa Catarina, Brazil. .; Embrapa Suínos e Aves, Concórdia, Santa Catarina, Brazil. .
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Źródło:
BMC genomics [BMC Genomics] 2024 Jan 23; Vol. 25 (1), pp. 104. Date of Electronic Publication: 2024 Jan 23.
Typ publikacji:
Journal Article
MeSH Terms:
MicroRNAs*
Muscular Diseases*
Animals ; Chickens ; Gene Expression Profiling ; Transcriptome
Czasopismo naukowe
Tytuł:
Investigating the relationship between muscle mass and nasal Methicillin-Resistant Staphylococcus aureus (MRSA) colonization: Analysis of the National Health and Nutrition Examination Survey (NHANES).
Autorzy:
Chen B; Department of Development and Regeneration, KU Leuven, Leuven, Belgium.
Li S; Wuxi Affiliated Hospital of Nanjing University of Traditional Chinese Medicine, Wuxi, China.
Lin S; Guangzhou University of Chinese Medicine, Guangzhou, Guangdong Province, China.
Dong H; Guangzhou University of Chinese Medicine, Guangzhou, Guangdong Province, China.; Department of traumatology, The First Affiliated Hospital, Guangzhou University of Chinese Medicine, Guangzhou, Guangdong Province, China.
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Źródło:
PloS one [PLoS One] 2024 Jan 02; Vol. 19 (1), pp. e0294400. Date of Electronic Publication: 2024 Jan 02 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Methicillin-Resistant Staphylococcus aureus*
Staphylococcal Infections*/epidemiology
Muscular Diseases*
Adult ; Female ; Humans ; Nutrition Surveys ; Cross-Sectional Studies ; Risk Factors ; Prevalence ; Muscles
Czasopismo naukowe
Tytuł:
Congenital Myasthenia Syndrome Due to a Novel DPAGT1 Gene Mutation - An Error of Glycosylation Masquerading as a Congenital Myopathy.
Autorzy:
Mahesan A; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India.
Kamila G; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India.
Tiwari R; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India.
Das S; Department of Pathology, AIIMS, New Delhi, India.
Sharma MC; Department of Pathology, AIIMS, New Delhi, India.
Jauhari P; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India.
Chakrabarty B; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India.
Gulati S; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India.
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Źródło:
Neurology India [Neurol India] 2024 Jan 01; Vol. 72 (1), pp. 175-177. Date of Electronic Publication: 2024 Feb 29.
Typ publikacji:
Journal Article
MeSH Terms:
Myasthenic Syndromes, Congenital*/diagnosis
Myasthenic Syndromes, Congenital*/genetics
Muscular Diseases*
Myotonia Congenita*
Humans ; Glycosylation ; Mutation/genetics
Czasopismo naukowe
Tytuł:
Biomolecules of Muscle Fatigue in Metabolic Myopathies.
Autorzy:
Schirinzi E; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, 56126 Pisa, Italy.
Ricci G; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, 56126 Pisa, Italy.
Torri F; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, 56126 Pisa, Italy.
Mancuso M; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, 56126 Pisa, Italy.
Siciliano G; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, 56126 Pisa, Italy.
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Źródło:
Biomolecules [Biomolecules] 2023 Dec 30; Vol. 14 (1). Date of Electronic Publication: 2023 Dec 30.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Muscular Diseases*
Metabolism, Inborn Errors*
Humans ; Muscle Fatigue ; Muscles ; Muscle Cells
Czasopismo naukowe
Tytuł:
Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy.
Autorzy:
Godbout K; Molecular Biology Department, Laval University, Quebec, QC G1V 0A6, Canada.; CHU de Québec Research Center, Laval University, Quebec, QC G1V 4G2, Canada.
Rousseau J; CHU de Québec Research Center, Laval University, Quebec, QC G1V 4G2, Canada.
Tremblay JP; Molecular Biology Department, Laval University, Quebec, QC G1V 0A6, Canada.; CHU de Québec Research Center, Laval University, Quebec, QC G1V 4G2, Canada.
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Źródło:
Cells [Cells] 2023 Dec 22; Vol. 13 (1). Date of Electronic Publication: 2023 Dec 22.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Muscular Diseases*
Ryanodine Receptor Calcium Release Channel*/genetics
Humans ; Muscle Weakness ; Mutation/genetics ; Point Mutation
Czasopismo naukowe
Tytuł:
Regular exercise attenuates alcoholic myopathy in zebrafish by modulating mitochondrial homeostasis.
Autorzy:
Wen W; Key Laboratory of Physical Fitness and Exercise Rehabilitation of Hunan Province, College of Physical Education, Hunan Normal University, Changsha, China.
Guo C; Key Laboratory of Physical Fitness and Exercise Rehabilitation of Hunan Province, College of Physical Education, Hunan Normal University, Changsha, China.
Chen Z; Key Laboratory of Physical Fitness and Exercise Rehabilitation of Hunan Province, College of Physical Education, Hunan Normal University, Changsha, China.
Yang D; Key Laboratory of Physical Fitness and Exercise Rehabilitation of Hunan Province, College of Physical Education, Hunan Normal University, Changsha, China.
Zhu D; Key Laboratory of Physical Fitness and Exercise Rehabilitation of Hunan Province, College of Physical Education, Hunan Normal University, Changsha, China.
Jing Q; Key Laboratory of Physical Fitness and Exercise Rehabilitation of Hunan Province, College of Physical Education, Hunan Normal University, Changsha, China.
Zheng L; Key Laboratory of Physical Fitness and Exercise Rehabilitation of Hunan Province, College of Physical Education, Hunan Normal University, Changsha, China.
Sun C; Key Laboratory of Physical Fitness and Exercise Rehabilitation of Hunan Province, College of Physical Education, Hunan Normal University, Changsha, China.; School of Physical Education, Hunan First Normal University, Changsha, Hunan, China.
Tang C; Key Laboratory of Physical Fitness and Exercise Rehabilitation of Hunan Province, College of Physical Education, Hunan Normal University, Changsha, China.
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Źródło:
PloS one [PLoS One] 2023 Nov 30; Vol. 18 (11), pp. e0294700. Date of Electronic Publication: 2023 Nov 30 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
Zebrafish*/metabolism
Muscular Diseases*
Animals ; Muscle, Skeletal/metabolism ; Myotoxicity/metabolism ; Ethanol/toxicity ; Ethanol/metabolism ; Homeostasis
Czasopismo naukowe
Tytuł:
Troponin and a Myopathy-Linked Mutation in TPM3 Inhibit Cofilin-2-Induced Thin Filament Depolymerization.
Autorzy:
Robaszkiewicz K; Department of Biochemistry and Cell Biology, Faculty of Biological Sciences, Kazimierz Wielki University in Bydgoszcz, 85-671 Bydgoszcz, Poland.
Wróbel J; Department of Biochemistry and Cell Biology, Faculty of Biological Sciences, Kazimierz Wielki University in Bydgoszcz, 85-671 Bydgoszcz, Poland.
Moraczewska J; Department of Biochemistry and Cell Biology, Faculty of Biological Sciences, Kazimierz Wielki University in Bydgoszcz, 85-671 Bydgoszcz, Poland.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Nov 17; Vol. 24 (22). Date of Electronic Publication: 2023 Nov 17.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Diseases*/genetics
Tropomyosin*/genetics
Humans ; Actin Cytoskeleton ; Actins/genetics ; Cofilin 2/genetics ; Mutation ; Troponin/genetics
Czasopismo naukowe
Tytuł:
Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy.
Autorzy:
Lambert MR; Division of Genetics and Genomics, Boston Children's Hospital, 300 Longwood Ave., Boston, MA, 02115, USA. .; Department of Pediatrics, Harvard Medical School, Boston, MA, 02115, USA. .
Gussoni E; Division of Genetics and Genomics, Boston Children's Hospital, 300 Longwood Ave., Boston, MA, 02115, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, 02115, USA.; The Stem Cell Program, Boston Children's Hospital, Boston, MA, 02115, USA.
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Źródło:
Skeletal muscle [Skelet Muscle] 2023 Nov 07; Vol. 13 (1), pp. 18. Date of Electronic Publication: 2023 Nov 07.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Tropomyosin*/genetics
Tropomyosin*/metabolism
Muscular Diseases*/genetics
Humans ; Muscle, Skeletal/metabolism ; Muscle Fibers, Skeletal/metabolism ; Mutation
Czasopismo naukowe
Tytuł:
Alcohol and Skeletal Muscle in Health and Disease.
Autorzy:
Simon L; Department of Physiology and Comprehensive Alcohol-HIV/AIDS Research Center, Louisiana State University Health Sciences Center, New Orleans, Louisiana.
Bourgeois BL; Department of Physiology and Comprehensive Alcohol-HIV/AIDS Research Center, Louisiana State University Health Sciences Center, New Orleans, Louisiana.
Molina PE; Department of Physiology and Comprehensive Alcohol-HIV/AIDS Research Center, Louisiana State University Health Sciences Center, New Orleans, Louisiana.
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Źródło:
Alcohol research : current reviews [Alcohol Res] 2023 Nov 02; Vol. 43 (1), pp. 04. Date of Electronic Publication: 2023 Nov 02 (Print Publication: 2023).
Typ publikacji:
Journal Article; Review; Research Support, N.I.H., Extramural
MeSH Terms:
Ethanol*/pharmacology
Muscular Diseases*/metabolism
Female ; Humans ; Muscle, Skeletal ; Alcohol Drinking/adverse effects ; Alcohol Drinking/metabolism ; Signal Transduction
Czasopismo naukowe
Tytuł:
Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy.
Autorzy:
Padmanabha H; Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India.
Arunachal G; Department of Human Genetics, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India.
Kishore P; Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India.
Sharma PP; Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India.
Mailankody P; Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India.
Mahale RR; Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India.
Nashi S; Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India.
Mathuranath PS; Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India.
Chandra SR; Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India.
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Źródło:
Neurology India [Neurol India] 2023 Nov-Dec; Vol. 71 (6), pp. 1257-1259.
Typ publikacji:
Case Reports
MeSH Terms:
Muscular Diseases*/pathology
Muscular Dystrophies*/congenital
Female ; Humans ; Child, Preschool ; Collagen Type XII/genetics ; Collagen Type XII/metabolism ; Collagen/genetics ; Extracellular Matrix/genetics ; Extracellular Matrix/metabolism ; Extracellular Matrix/pathology ; Mutation/genetics
Raport
Tytuł:
Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies.
Autorzy:
Nallamilli BRR; Revvity Omics, Pittsburgh, Pennsylvania, USA.
Pan Y; Revvity Omics, Pittsburgh, Pennsylvania, USA.
Sniderman King L; Sanofi, Cambridge, Massachusetts, USA.
Jagannathan L; Revvity Omics, Pittsburgh, Pennsylvania, USA.
Ramachander V; Revvity Omics, Pittsburgh, Pennsylvania, USA.
Lucas A; Sanofi, Cambridge, Massachusetts, USA.
Markind J; Sanofi, Cambridge, Massachusetts, USA.
Colzani R; Sanofi, Cambridge, Massachusetts, USA.
Hegde M; Revvity Omics, Pittsburgh, Pennsylvania, USA.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Nov; Vol. 10 (11), pp. 2092-2104. Date of Electronic Publication: 2023 Sep 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Muscular Diseases*/genetics
Muscular Dystrophies, Limb-Girdle*/diagnosis
Muscular Dystrophies, Limb-Girdle*/genetics
Humans ; United States ; DNA Copy Number Variations/genetics ; Exons ; Nerve Tissue Proteins/genetics ; Molecular Chaperones/genetics ; HSP40 Heat-Shock Proteins/genetics ; Pentosyltransferases/genetics ; Anoctamins/genetics ; Poly(A)-Binding Protein I/genetics
Czasopismo naukowe
Tytuł:
A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy.
Autorzy:
Mohassel P; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
Yun P; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
Syeda S; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
Batra A; Department of Physical Therapy, University of Florida, Gainesville, FL, USA.
Bradley AJ; Advanced Cardiovascular Imaging Laboratory, NHLBI, NIH, Bethesda, MD, USA.
Donkervoort S; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
Monges S; Servicio de Neurología, Hospital de Pediatría J.P. Garrahan, Buenos Aires, Argentina.
Cohen JS; Department of Neurology, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Leung DG; Department of Neurology, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Munell F; Pediatric Neurology, Vall d'Hebron University Hospital, Barcelona, Spain.
Ortez C; Department of Pediatric Neurology, Neuromuscular Unit, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
Sánchez-Montáñez A; Pediatric Neuroradiology, Hospital Universitari Vall d'Hebron, Vall d'Hebron, Autonomous University of Barcelona, Barcelona, Spain.
Karachunski P; University of Minnesota Medical School, Minneapolis, MN, USA.
Brandsema J; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Medne L; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Chaudhry V; Department of Neurology, University of North Carolina, Chapel Hill, NC, USA.
Tasca G; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle, Upon Tyne, UK.
Foley AR; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
Udd B; Folkhalsan Research Center, Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
Arai AE; Advanced Cardiovascular Imaging Laboratory, NHLBI, NIH, Bethesda, MD, USA.
Walter GA; Department of Physiology and Functional Genomics, University of Florida, Gainesville, FL, USA.
Bönnemann CG; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Aug; Vol. 10 (8), pp. 1442-1455. Date of Electronic Publication: 2023 Jul 22.
Typ publikacji:
Journal Article; Research Support, N.I.H., Intramural
MeSH Terms:
Contrast Media*
Muscular Diseases*/diagnostic imaging
Muscular Diseases*/genetics
Humans ; Male ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Aged ; Cross-Sectional Studies ; Muscle Proteins ; Gadolinium ; Muscle, Skeletal/diagnostic imaging ; Intracellular Signaling Peptides and Proteins ; LIM Domain Proteins/genetics
Czasopismo naukowe
Tytuł:
Impact of metformin on statin-associated myopathy risks in dyslipidemia patients.
Autorzy:
Bak K; College of Pharmacy, Ajou University, Suwon, Republic of Korea.
Moon S; College of Pharmacy, Ajou University, Suwon, Republic of Korea.
Ko M; College of Pharmacy, Ajou University, Suwon, Republic of Korea.
Choi YJ; Department of Pharmacy, College of Pharmacy, Kyung Hee University, Seoul, Republic of Korea.
Shin S; College of Pharmacy, Ajou University, Suwon, Republic of Korea.; Research Institute of Pharmaceutical Science and Technology (RIPST), Ajou University, Suwon, Republic of Korea.
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Źródło:
Pharmacology research & perspectives [Pharmacol Res Perspect] 2023 Aug; Vol. 11 (4), pp. e01114.
Typ publikacji:
Journal Article
MeSH Terms:
Metformin*/adverse effects
Hydroxymethylglutaryl-CoA Reductase Inhibitors*/therapeutic use
Muscular Diseases*/chemically induced
Muscular Diseases*/epidemiology
Dyslipidemias*/chemically induced
Dyslipidemias*/drug therapy
Dyslipidemias*/epidemiology
Humans ; Retrospective Studies ; Cohort Studies ; Hypoglycemic Agents/therapeutic use
Czasopismo naukowe
Tytuł:
Predicting female pelvic tilt and lumbar angle using machine learning in case of urinary incontinence and sexual dysfunction.
Autorzy:
Abdel Hady DA; Department of Physical Therapy for Women's Health, Faculty of Physiotherapy, Deraya University, EL-Minia, Egypt. .
Abd El-Hafeez T; Department of Computer Science, Faculty of Science, Minia University, EL-Minia, Egypt. .; Computer Science Unit, Deraya University, EL-Minia, Egypt. .
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Źródło:
Scientific reports [Sci Rep] 2023 Oct 20; Vol. 13 (1), pp. 17940. Date of Electronic Publication: 2023 Oct 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Urinary Incontinence*
Muscular Diseases*
Female ; Humans ; Quality of Life ; Pelvic Floor/diagnostic imaging ; Physical Therapy Modalities ; Posture
Czasopismo naukowe
Tytuł:
Preclinical assessment of rodent jumping power with a novel electrical stimulation-assisted device.
Autorzy:
Kim SR; Department of Materials Science and Engineering, Yonsei University, 50 Yonsei-ro, Seodaemun-gu, Seoul, 03722, Korea.
Lee EI; Department of Materials Science and Engineering, Yonsei University, 50 Yonsei-ro, Seodaemun-gu, Seoul, 03722, Korea.
Kim Y; Yonsei University Health System, Seoul, 03722, Korea.
Cho SW; Department of Integrative Medicine, Yonsei University College of Medicine, Seoul, Korea.; Institue for Innovation in Digital Healthcare (IIDH), Severance Hospital, Seoul, Korea.
Hong N; Institue for Innovation in Digital Healthcare (IIDH), Severance Hospital, Seoul, Korea. .; Department of Internal Medicine, Severance Hospital, Endocrine Research Institute, Yonsei University College of Medicine, Seoul, 03722, Korea. .
Rhee Y; Department of Internal Medicine, Severance Hospital, Endocrine Research Institute, Yonsei University College of Medicine, Seoul, 03722, Korea. .
Park JW; Department of Materials Science and Engineering, Yonsei University, 50 Yonsei-ro, Seodaemun-gu, Seoul, 03722, Korea. .
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Źródło:
Scientific reports [Sci Rep] 2023 Oct 13; Vol. 13 (1), pp. 17371. Date of Electronic Publication: 2023 Oct 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Sarcopenia*/pathology
Muscular Diseases*/pathology
Humans ; Animals ; Mice ; Muscle Strength/physiology ; Muscle, Skeletal/pathology ; Hand Strength/physiology
Czasopismo naukowe
Tytuł:
MOTS-c Serum Concentration Positively Correlates with Lower-Body Muscle Strength and Is Not Related to Maximal Oxygen Uptake-A Preliminary Study.
Autorzy:
Domin R; Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, 60-355 Poznan, Poland.; University Centre for Sport and Medical Studies, Poznan University of Medical Sciences, 60-802 Poznan, Poland.
Pytka M; University Centre for Sport and Medical Studies, Poznan University of Medical Sciences, 60-802 Poznan, Poland.; Department of Cardiology, Intensive Therapy, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
Żołyński M; University Centre for Sport and Medical Studies, Poznan University of Medical Sciences, 60-802 Poznan, Poland.; Department of Cardiology, Intensive Therapy, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
Niziński J; University Centre for Sport and Medical Studies, Poznan University of Medical Sciences, 60-802 Poznan, Poland.
Rucinski M; Department of Histology and Embriology, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
Guzik P; University Centre for Sport and Medical Studies, Poznan University of Medical Sciences, 60-802 Poznan, Poland.; Department of Cardiology, Intensive Therapy, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
Zieliński J; Department of Athletics, Strength and Conditioning, Poznan University of Physical Education, 61-871 Poznan, Poland.
Ruchała M; Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, 60-355 Poznan, Poland.; University Centre for Sport and Medical Studies, Poznan University of Medical Sciences, 60-802 Poznan, Poland.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Oct 06; Vol. 24 (19). Date of Electronic Publication: 2023 Oct 06.
Typ publikacji:
Journal Article
MeSH Terms:
Sports*
Muscular Diseases*
Humans ; Male ; Female ; Adult ; Muscle Strength/physiology ; Exercise/physiology ; Exercise Test ; Muscle, Skeletal ; Oxygen
Czasopismo naukowe
Tytuł:
Obtaining local twitch response with ultrasound-guided dry needling.
Autorzy:
Yildizgoren MT; Konya City Hospital, Department of Physical Medicine and Rehabilitation, Konya, Turkey. .
Bagcier F; Basaksehir Cam and Sakura Hospital, Department of Physical Medicine and Rehabilitation, Istanbul, Türkiye.
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Źródło:
Medical ultrasonography [Med Ultrason] 2023 Sep 29; Vol. 25 (3), pp. 362-363.
Typ publikacji:
Letter
MeSH Terms:
Dry Needling*
Muscular Diseases*
Humans ; Ultrasonography ; Ultrasonography, Interventional
Opinia redakcyjna
Tytuł:
Quantitative sonographic assessment of muscle thickness and fasciculations distribution is a sensitive tool for neuromuscular disorders.
Autorzy:
Abraham A; Neuromuscular Diseases Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Fainmesser Y; Neuromuscular Diseases Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Drory VE; Neuromuscular Diseases Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Bril V; Ellen and Martin Prosserman Centre for Neuromuscular Diseases, Division of Neurology, Department of Medicine, University Health Network, University of Toronto, Toronto, Canada.
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Źródło:
PloS one [PLoS One] 2023 Sep 28; Vol. 18 (9), pp. e0292123. Date of Electronic Publication: 2023 Sep 28 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
Amyotrophic Lateral Sclerosis*/diagnostic imaging
Neuromuscular Diseases*/diagnostic imaging
Muscular Diseases*
Polyneuropathies*/diagnostic imaging
Humans ; Fasciculation/diagnostic imaging ; Muscle, Skeletal/diagnostic imaging ; Electromyography ; Ultrasonography
Czasopismo naukowe
Tytuł:
Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy.
Autorzy:
Magyar ZÉ; Department of Physiology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
Hevesi J; Department of Orthodontics, Faculty of Dentistry, University of Debrecen, Debrecen, Hungary.; Doctoral School of Molecular Medicine, University of Debrecen, Debrecen, Hungary.
Groom L; Department of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, NY, USA.
Dirksen RT; Department of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, NY, USA.
Almássy J; Department of Physiology, Semmelweis University, Budapest, Hungary. .
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Źródło:
Scientific reports [Sci Rep] 2023 Sep 05; Vol. 13 (1), pp. 14659. Date of Electronic Publication: 2023 Sep 05.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Muscular Diseases*
Myotonia Congenita*
Animals ; Mice ; Ryanodine Receptor Calcium Release Channel ; Dantrolene ; Cytoplasm ; Adenosine Triphosphate
Czasopismo naukowe
Tytuł:
Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA.
Autorzy:
Gregory EF; Department of Molecular and Cellular Biology, University of California, Davis, California, United States of America.
Kalra S; Department of Molecular and Cellular Biology, University of California, Davis, California, United States of America.
Brock T; InVivo Biosystems, Eugene, Oregon, United States of America.
Bonne G; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris, France.
Luxton GWG; Department of Molecular and Cellular Biology, University of California, Davis, California, United States of America.
Hopkins C; InVivo Biosystems, Eugene, Oregon, United States of America.
Starr DA; Department of Molecular and Cellular Biology, University of California, Davis, California, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2023 Aug 25; Vol. 19 (8), pp. e1010895. Date of Electronic Publication: 2023 Aug 25 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Laminopathies*
Muscle, Striated*
Muscular Diseases*/genetics
Animals ; Humans ; Caenorhabditis elegans/genetics ; Lamin Type A/genetics ; Muscle, Skeletal ; Mutation, Missense/genetics
Czasopismo naukowe
Tytuł:
Identifying dysregulated immune cell subsets following volumetric muscle loss with pseudo-time trajectories.
Autorzy:
Hymel LA; Department of Biomedical Engineering, Georgia Institute of Technology, Atlanta, GA, USA.; Petit Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Atlanta, GA, USA.
Anderson SE; Department of Biomedical Engineering, Georgia Institute of Technology, Atlanta, GA, USA.; Petit Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Atlanta, GA, USA.
Turner TC; Department of Biomedical Engineering, Georgia Institute of Technology, Atlanta, GA, USA.; Petit Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Atlanta, GA, USA.
York WY; Department of Biomedical Engineering, Georgia Institute of Technology, Atlanta, GA, USA.
Zhang H; Petit Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Atlanta, GA, USA.; School of Materials Science and Engineering, Georgia Institute of Technology, Atlanta, GA, USA.
Liversage AR; School of Chemical, Materials, and Biomedical Engineering, University of Georgia, Athens, GA, USA.; Regenerative Bioscience Center, Rhodes Center for ADS, University of Georgia, Athens, GA, USA.
Lim HS; Department of Biomedical Engineering, Georgia Institute of Technology, Atlanta, GA, USA.; Petit Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Atlanta, GA, USA.
Qiu P; Department of Biomedical Engineering, Georgia Institute of Technology, Atlanta, GA, USA.; Petit Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Atlanta, GA, USA.
Mortensen LJ; School of Chemical, Materials, and Biomedical Engineering, University of Georgia, Athens, GA, USA.; Regenerative Bioscience Center, Rhodes Center for ADS, University of Georgia, Athens, GA, USA.
Jang YC; Department of Biomedical Engineering, Georgia Institute of Technology, Atlanta, GA, USA. .; Department of Orthopaedics, Emory University, Atlanta, GA, USA. .
Willett NJ; Petit Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Atlanta, GA, USA. .; Department of Orthopaedics, Emory University, Atlanta, GA, USA. .; Atlanta Veterans Affairs Medical Center, Decatur, GA, USA. .; Phil and Penny Knight Campus for Accelerating Scientific Impact, University of Oregon, Eugene, OR, USA. .; The Veterans Affairs Portland Health Care System, Portland, OR, USA. .
Botchwey EA; Department of Biomedical Engineering, Georgia Institute of Technology, Atlanta, GA, USA. .; Petit Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Atlanta, GA, USA. .
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Źródło:
Communications biology [Commun Biol] 2023 Jul 19; Vol. 6 (1), pp. 749. Date of Electronic Publication: 2023 Jul 19.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:
Muscle, Skeletal*/pathology
Muscular Diseases*/pathology
Muscular Diseases*/therapy
Mice ; Animals ; Regeneration ; Regenerative Medicine ; Collagen
Czasopismo naukowe
Tytuł:
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes.
Autorzy:
Monda E; Inherited and Rare Cardiovascular Disease Unit, Department of Translational Medical Sciences, University of Campania Luigi Vanvitelli, AORN dei Colli, Monaldi Hospital, 81031 Naples, Italy.
Lioncino M; Inherited and Rare Cardiovascular Disease Unit, Department of Translational Medical Sciences, University of Campania Luigi Vanvitelli, AORN dei Colli, Monaldi Hospital, 81031 Naples, Italy.
Caiazza M; Inherited and Rare Cardiovascular Disease Unit, Department of Translational Medical Sciences, University of Campania Luigi Vanvitelli, AORN dei Colli, Monaldi Hospital, 81031 Naples, Italy.
Simonelli V; Neurology Unit, AORN dei Colli, Monaldi Hospital, 81031 Naples, Italy.
Nesti C; Molecular Medicine, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
Rubino M; Inherited and Rare Cardiovascular Disease Unit, Department of Translational Medical Sciences, University of Campania Luigi Vanvitelli, AORN dei Colli, Monaldi Hospital, 81031 Naples, Italy.
Perna A; Inherited and Rare Cardiovascular Disease Unit, Department of Translational Medical Sciences, University of Campania Luigi Vanvitelli, AORN dei Colli, Monaldi Hospital, 81031 Naples, Italy.
Mauriello A; Inherited and Rare Cardiovascular Disease Unit, Department of Translational Medical Sciences, University of Campania Luigi Vanvitelli, AORN dei Colli, Monaldi Hospital, 81031 Naples, Italy.
Budillon A; Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania Luigi Vanvitelli, Via Sergio Pansini, 5, 80131 Naples, Italy.
Pota V; NeuroMuscular Omnicentre (NEMO), AORN dei Colli, Monaldi Hospital, 80131 Naples, Italy.
Bruno G; Pediatric Neurology Unit, Department of Neurosciences, Santobono-Pausilipon Children's Hospital, 80122 Naples, Italy.
Varone A; Pediatric Neurology Unit, Department of Neurosciences, Santobono-Pausilipon Children's Hospital, 80122 Naples, Italy.
Nigro V; Department of Precision Medicine, University of Campania Luigi Vanvitelli, Via Luigi De Crecchio 7, 80138 Naples, Italy.; Telethon Institute of Genetics and Medicine, Via Campi Flegrei 34, 80078 Pozzuoli, Italy.
Santorelli FM; Molecular Medicine, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
Pacileo G; Heart Failure Unit, Department of Cardiology, AORN dei Colli, Monaldi Hospital, 80131 Naples, Italy.
Russo MG; Paediatric Cardiology Unit, University of Campania Luigi Vanvitelli, AORN dei Colli, Monaldi Hospital, 81100 Caserta, Italy.
Frisso G; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', 80138 Naples, Italy.
Sampaolo S; Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania Luigi Vanvitelli, Via Sergio Pansini, 5, 80131 Naples, Italy.
Limongelli G; Inherited and Rare Cardiovascular Disease Unit, Department of Translational Medical Sciences, University of Campania Luigi Vanvitelli, AORN dei Colli, Monaldi Hospital, 81031 Naples, Italy.; NeuroMuscular Omnicentre (NEMO), AORN dei Colli, Monaldi Hospital, 80131 Naples, Italy.; Institute of Cardiovascular Sciences, University College of London and St. Bartholomew's Hospital, Gower St, London WC1E 6DD, UK.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 May 22; Vol. 24 (10). Date of Electronic Publication: 2023 May 22.
Typ publikacji:
Journal Article
MeSH Terms:
Cardiomyopathies*/genetics
Cardiomyopathies*/diagnosis
Mitochondrial Diseases*/diagnosis
Mitochondrial Diseases*/genetics
Cardiomyopathy, Hypertrophic*
Muscular Diseases*/diagnosis
Muscular Diseases*/genetics
Humans ; Mutation ; Phenotype
Czasopismo naukowe
Tytuł:
Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy.
Autorzy:
Roy B; Department of Neurology, Yale School of Medicine, New Haven, Connecticut, USA.
Peck A; Cure VCP Disease, Americus, Georgia, USA.
Evangelista T; GH Pitié-Salpêtrière, Sorbonne Université-Inserm UMRS97, Institut de Myologie, Paris, France.
Pfeffer G; Hotchkiss Brain Institute, Department of Clinical Neurosciences, University of Calgary Cumming School of Medicine, Calgary, Alberta, Canada.
Wang L; Department of Neurology, University of Washington, Seattle, Washington, USA.
Diaz-Manera J; John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.
Korb M; Department of Neurology, University of California-Irvine School of Medicine, Orange, California, USA.
Wicklund MP; Department of Neurology, University of Colorado, Denver, Colorado, USA.
Milone M; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
Freimer M; Department of Neurology, Ohio State University, Columbus, Ohio, USA.
Kushlaf H; Department of Neurology and Rehabilitation Medicine, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Villar-Quiles RN; APHP, Reference Center for Neuromuscular Disorders, Center of Research in Myology, Sorbonne Université-Inserm UMRS974, Pitié-Salpêtrière Hospital, Paris, France.
Stojkovic T; APHP, Reference Center for Neuromuscular Disorders, Center of Research in Myology, Sorbonne Université-Inserm UMRS974, Pitié-Salpêtrière Hospital, Paris, France.
Needham M; University of Notre Dame, Murdoch University and Fiona Stanley Hospital, Perth, Australia.
Palmio J; Neuromuscular Research Center, Tampere University Hospital, Tampere, Finland.
Lloyd TE; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Massachusetts, USA.; Department of Neuroscience and Pathology, Johns Hopkins University School of Medicine, Baltimore, Massachusetts, USA.
Keung B; Department of Neurology, Yale School of Medicine, New Haven, Connecticut, USA.
Mozaffar T; Department of Neurology, University of California-Irvine School of Medicine, Orange, California, USA.
Weihl CC; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
Kimonis V; Department of Neurology, University of California-Irvine School of Medicine, Orange, California, USA.; Department of Pediatrics, University of California-Irvine School of Medicine, Orange, California, USA.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 May; Vol. 10 (5), pp. 686-695. Date of Electronic Publication: 2023 Apr 07.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Muscular Diseases*/diagnosis
Muscular Diseases*/genetics
Muscular Diseases*/therapy
Muscular Dystrophies, Limb-Girdle*/diagnosis
Muscular Dystrophies, Limb-Girdle*/genetics
Muscular Dystrophies, Limb-Girdle*/therapy
Proteostasis Deficiencies*
Humans ; Valosin Containing Protein/genetics ; Phenotype
Czasopismo naukowe
Tytuł:
Long-term longitudinal study on swine VML model.
Autorzy:
De Paolis F; Department of Biology, University of Rome 'Tor Vergata', Rome, 00133, Italy.; PhD Program in Cellular and Molecular Biology, Department of Biology, University of Rome 'Tor Vergata', Rome, Italy.
Testa S; Marseille Medical Genetics, Aix-Marseille University, INSERM, Marseille, MMG, France.
Guarnaccia G; Department of Biology, University of Rome 'Tor Vergata', Rome, 00133, Italy.
Reggio A; Department of Biology, University of Rome 'Tor Vergata', Rome, 00133, Italy.
Fornetti E; Department of Biology, University of Rome 'Tor Vergata', Rome, 00133, Italy.
Cicciarelli F; Department of Biology, University of Rome 'Tor Vergata', Rome, 00133, Italy.
Deodati R; Department of Biology, University of Rome 'Tor Vergata', Rome, 00133, Italy.
Bernardini S; Department of Biology, University of Rome 'Tor Vergata', Rome, 00133, Italy.
Peluso D; Department of Biology, University of Rome 'Tor Vergata', Rome, 00133, Italy.
Baldi J; IRCCS Regina Elena National Cancer Institute, Rome, Italy.
Biagini R; IRCCS Regina Elena National Cancer Institute, Rome, Italy.
Bellisari FC; Department of Clinical Sciences and Applied Biotechnologies (DISCAB), Aquila, Italy.
Izzo A; Department of Clinical Sciences and Applied Biotechnologies (DISCAB), Aquila, Italy.
Sgalambro F; Department of Clinical Sciences and Applied Biotechnologies (DISCAB), Aquila, Italy.
Arrigoni F; Department of Clinical Sciences and Applied Biotechnologies (DISCAB), Aquila, Italy.
Rizzo F; Joint Veteran Center, Scientific Department, Army Medical Center, Rome, Italy.
Cannata S; Department of Biology, University of Rome 'Tor Vergata', Rome, 00133, Italy.
Sciarra T; Joint Veteran Center, Scientific Department, Army Medical Center, Rome, Italy.
Fuoco C; Department of Biology, University of Rome 'Tor Vergata', Rome, 00133, Italy. .
Gargioli C; Department of Biology, University of Rome 'Tor Vergata', Rome, 00133, Italy. .
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Źródło:
Biology direct [Biol Direct] 2023 Jul 31; Vol. 18 (1), pp. 42. Date of Electronic Publication: 2023 Jul 31.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cicatrix*/pathology
Muscular Diseases*/pathology
Humans ; Mice ; Animals ; Swine ; Longitudinal Studies ; Swine, Miniature ; Muscle, Skeletal/injuries ; Muscle, Skeletal/pathology ; Muscle, Skeletal/physiology
Czasopismo naukowe
Tytuł:
Severe Hypokalemia Complicated by Acute Myopathy: Initial Manifestation of Primary Sjögren's Syndrome-Associated Renal Tubular Acidosis.
Autorzy:
Gao YL; Department of Emergency Medicine, Tianjin Medical University General Hospital, Tianjin, China (mainland).; Department of Emergency Medicine, China-Congo Friendship Hospital, Brazzaville, Congo, the Democratic Republic of the.
Milebe Nkoua GD; Department of Emergency Medicine, China-Congo Friendship Hospital, Brazzaville, Congo, the Democratic Republic of the.
Chai YF; Department of Emergency Medicine, Tianjin Medical University General Hospital, Tianjin, China (mainland).
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Źródło:
The American journal of case reports [Am J Case Rep] 2023 Jul 23; Vol. 24, pp. e940268. Date of Electronic Publication: 2023 Jul 23.
Typ publikacji:
Systematic Review; Case Reports; Journal Article
MeSH Terms:
Acidosis, Renal Tubular*/complications
Acidosis, Renal Tubular*/diagnosis
Sjogren's Syndrome*/complications
Sjogren's Syndrome*/diagnosis
Hypokalemia*/etiology
Muscular Diseases*
Autoimmune Diseases*
Humans ; Female ; Adult ; Creatine
Czasopismo naukowe
Tytuł:
Robust critical limb ischemia porcine model involving skeletal muscle necrosis.
Autorzy:
El Masry MS; McGowan Institute for Regenerative Medicine, Department of Surgery, School of Medicine, University of Pittsburgh, Pittsburgh, PA, 15219, USA. .; Indiana Center for Regenerative Medicine and Engineering, Indiana University Health Comprehensive Wound Center, Department of Surgery, Indiana University School of Medicine, Indianapolis, IN, 46202, USA. .
Gnyawali SC; McGowan Institute for Regenerative Medicine, Department of Surgery, School of Medicine, University of Pittsburgh, Pittsburgh, PA, 15219, USA.; Indiana Center for Regenerative Medicine and Engineering, Indiana University Health Comprehensive Wound Center, Department of Surgery, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.
Sen CK; McGowan Institute for Regenerative Medicine, Department of Surgery, School of Medicine, University of Pittsburgh, Pittsburgh, PA, 15219, USA. .; Indiana Center for Regenerative Medicine and Engineering, Indiana University Health Comprehensive Wound Center, Department of Surgery, Indiana University School of Medicine, Indianapolis, IN, 46202, USA. .
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Źródło:
Scientific reports [Sci Rep] 2023 Jul 18; Vol. 13 (1), pp. 11574. Date of Electronic Publication: 2023 Jul 18.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Rhabdomyolysis*/complications
Muscular Diseases*/pathology
Swine ; Female ; Animals ; Chronic Limb-Threatening Ischemia ; Hindlimb/blood supply ; Ischemia/pathology ; Necrosis/pathology ; Muscle, Skeletal/pathology ; Disease Models, Animal
Czasopismo naukowe
Tytuł:
Induced Pluripotent Stem Cells for Tissue-Engineered Skeletal Muscles.
Autorzy:
Zhao S; Division of Surgery and Interventional Science, University College London, London NW3 2QG, UK.
Chen J; Division of Surgery and Interventional Science, University College London, London NW3 2QG, UK.
Wu L; Division of Surgery and Interventional Science, University College London, London NW3 2QG, UK.
Tao X; Department of iPS Cell Applications, Kobe University, Kobe 657-8501, Japan.
Yaqub N; Division of Surgery and Interventional Science, University College London, London NW3 2QG, UK.
Chang J; Division of Surgery and Interventional Science, University College London, London NW3 2QG, UK.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Jul 15; Vol. 24 (14). Date of Electronic Publication: 2023 Jul 15.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Induced Pluripotent Stem Cells*
Muscular Diseases*/metabolism
Animals ; Tissue Engineering/methods ; Quality of Life ; Muscle, Skeletal/metabolism ; Cell Differentiation
Czasopismo naukowe
Tytuł:
Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.
Autorzy:
Papadopoulos C; First Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, ERN, EURO NMD, 11528 Athens, Greece.
Malfatti E; Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Université Paris Est, U955 INSERM, EnvA, EFS, IMRB, F-94010 and APHP, Henri Mondor Hospital, 94010 Créteil, France.
Métay C; APHP, Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Centre de Génétique Moléculaire et Chromosomique, INSERM, Institut de Myologie, Groupe Hospitalier La Pitié-Salpêtrière-Charles Foix, Sorbonne Université, 75013 Paris, France.
Keren B; APHP, Centre de Génétique Moléculaire et Chromosomique, UF Génétique du Développement, GH Pitié-Salpêtrière, 75013 Paris, France.
Lejeune E; APHP, Centre de Génétique Moléculaire et Chromosomique, UF Génétique du Développement, GH Pitié-Salpêtrière, 75013 Paris, France.
Buratti J; APHP, Centre de Génétique Moléculaire et Chromosomique, UF Génétique du Développement, GH Pitié-Salpêtrière, 75013 Paris, France.
Xirou S; First Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, ERN, EURO NMD, 11528 Athens, Greece.
Chrysanthou-Piterou M; First Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, ERN, EURO NMD, 11528 Athens, Greece.
Papadimas GK; First Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, ERN, EURO NMD, 11528 Athens, Greece.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Jul 06; Vol. 24 (13). Date of Electronic Publication: 2023 Jul 06.
Typ publikacji:
Case Reports
MeSH Terms:
Cardiomyopathies*/metabolism
Myopathies, Structural, Congenital*/metabolism
Muscular Diseases*/metabolism
Humans ; Desmin/genetics ; Desmin/metabolism ; Greece ; Muscle, Skeletal/metabolism ; Mutation
SCR Disease Name:
Myofibrillar Myopathy
Raport
Tytuł:
Muscle magnetic resonance imaging involvement patterns in nemaline myopathies.
Autorzy:
Perry L; The Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, Neurosciences Unit, Great Ormond Street, Institute of Child Health, Great Ormond Street Hospital, University College London, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, London, UK.; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, London, UK.
Stimpson G; The Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, Neurosciences Unit, Great Ormond Street, Institute of Child Health, Great Ormond Street Hospital, University College London, London, UK.
Singh L; The Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, Neurosciences Unit, Great Ormond Street, Institute of Child Health, Great Ormond Street Hospital, University College London, London, UK.
Morrow JM; Queen Square Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.
Shah S; Queen Square Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.
Baranello G; The Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, Neurosciences Unit, Great Ormond Street, Institute of Child Health, Great Ormond Street Hospital, University College London, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, London, UK.; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, London, UK.
Muntoni F; The Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, Neurosciences Unit, Great Ormond Street, Institute of Child Health, Great Ormond Street Hospital, University College London, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, London, UK.; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, London, UK.
Sarkozy A; The Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, Neurosciences Unit, Great Ormond Street, Institute of Child Health, Great Ormond Street Hospital, University College London, London, UK.; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, London, UK.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Jul; Vol. 10 (7), pp. 1219-1229. Date of Electronic Publication: 2023 Jun 02.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Myopathies, Nemaline*/diagnostic imaging
Myopathies, Nemaline*/genetics
Myopathies, Nemaline*/pathology
Muscular Diseases*/genetics
Humans ; Mutation ; Muscle, Skeletal/diagnostic imaging ; Muscle, Skeletal/pathology ; Magnetic Resonance Imaging ; Biomarkers
Czasopismo naukowe
Tytuł:
Novel variants, muscle imaging, and myopathological changes in Chinese patients with VCP-related multisystem proteinopathy.
Autorzy:
Wan Y; Department of Neurology, Peking University First Hospital, 100034, Beijing, China.
Wang Q; Department of Neurology, Peking University First Hospital, 100034, Beijing, China.
Zheng Y; Department of Neurology, Peking University First Hospital, 100034, Beijing, China.
Yu M; Department of Neurology, Peking University First Hospital, 100034, Beijing, China.
Xie Z; Department of Neurology, Peking University First Hospital, 100034, Beijing, China.
Ling C; Department of Neurology, Peking University First Hospital, 100034, Beijing, China.
Meng L; Department of Neurology, Peking University First Hospital, 100034, Beijing, China.
Yu J; Department of Neurology, Peking University First Hospital, 100034, Beijing, China.
Zheng Y; Department of Neurology, the First Affiliated Hospital of Nanchang University, 330006, Jiangxi, Nanchang, 17 Yongwaizheng Street, China.
Wang Y; Department of Neurology, Peking University First Hospital, 100034, Beijing, China.
Zhang W; Department of Neurology, Peking University First Hospital, 100034, Beijing, China.
Liu C; Department of Neurology, Peking University First Hospital, 100034, Beijing, China.
Zhao Y; Department of Neurology, Peking University First Hospital, 100034, Beijing, China.
Yuan Y; Department of Neurology, Peking University First Hospital, 100034, Beijing, China.
Deng J; Department of Neurology, Peking University First Hospital, 100034, Beijing, China.
Gang Q; Department of Neurology, Peking University First Hospital, 100034, Beijing, China.; Department of Neurology, Peking University First Hospital, Peking University, 100034, Beijing, China.
Wang Z; Department of Neurology, Peking University First Hospital, 100034, Beijing, China.; Department of Neurology, Peking University First Hospital, Peking University, 100034, Beijing, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Jul; Vol. 11 (7), pp. e2176. Date of Electronic Publication: 2023 Mar 31.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cell Cycle Proteins*/genetics
Muscular Diseases*/genetics
Adult ; Humans ; Valosin Containing Protein/genetics ; East Asian People ; Muscle, Skeletal/diagnostic imaging ; Muscle, Skeletal/pathology
Czasopismo naukowe
Tytuł:
Semimembranosus muscle tear masquerading as a hypervascular tumor: ultrasonographic differential diagnosis for gluteal pain syndrome.
Autorzy:
Wu WT; Department of Physical Medicine and Rehabilitation, National Taiwan University Hospital, Bei-Hu Branch, Taipei, Taiwan. .
Mezian K; Department of Rehabilitation Medicine, First Faculty of Medicine and General University Hospital, Charles University in Prague, Prague, Czech. .
Ricci V; Physical and Rehabilitation Medicine Unit, Luigi Sacco University Hospital, ASST Fatebenefratelli-Sacco, Milan, Italy. .
Chang KV; Department of Physical Medicine and Rehabilitation, National Taiwan University Hospital, Bei-Hu Branch, Taipei, Taiwan. .
Ozcakar L; Department of Physical and Rehabilitation Medicine, Hacettepe University Medical School, Ankara, Turkey. .
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Źródło:
Medical ultrasonography [Med Ultrason] 2023 Jun 26; Vol. 25 (2), pp. 241-242.
Typ publikacji:
Letter
MeSH Terms:
Hamstring Muscles*
Muscular Diseases*
Neoplasms*
Humans ; Diagnosis, Differential ; Rupture ; Muscle, Skeletal ; Pain
Opinia redakcyjna
Tytuł:
Risk factors for hamstring strain injury in male college American football players -a preliminary prospective cohort study.
Autorzy:
Mizutani Y; UTokyo Sports Science Institute (UTSSI), Komaba I Campus, 3-8-1, Komaba, Meguro-Ku, 3rd Floor, Bldg.9, Tokyo, 153-8902, Japan.
Taketomi S; UTokyo Sports Science Institute (UTSSI), Komaba I Campus, 3-8-1, Komaba, Meguro-Ku, 3rd Floor, Bldg.9, Tokyo, 153-8902, Japan. .; Department of Orthopaedic Surgery Faculty of Medicine, The University of Tokyo, 7-3-1, Hongo, Bunkyo-Ku, Tokyo, 113-8655, Japan. .
Kawaguchi K; UTokyo Sports Science Institute (UTSSI), Komaba I Campus, 3-8-1, Komaba, Meguro-Ku, 3rd Floor, Bldg.9, Tokyo, 153-8902, Japan.; Department of Orthopaedic Surgery Faculty of Medicine, The University of Tokyo, 7-3-1, Hongo, Bunkyo-Ku, Tokyo, 113-8655, Japan.
Takei S; UTokyo Sports Science Institute (UTSSI), Komaba I Campus, 3-8-1, Komaba, Meguro-Ku, 3rd Floor, Bldg.9, Tokyo, 153-8902, Japan.
Yamagami R; Department of Orthopaedic Surgery Faculty of Medicine, The University of Tokyo, 7-3-1, Hongo, Bunkyo-Ku, Tokyo, 113-8655, Japan.
Kono K; Department of Orthopaedic Surgery Faculty of Medicine, The University of Tokyo, 7-3-1, Hongo, Bunkyo-Ku, Tokyo, 113-8655, Japan.
Kage T; Department of Orthopaedic Surgery Faculty of Medicine, The University of Tokyo, 7-3-1, Hongo, Bunkyo-Ku, Tokyo, 113-8655, Japan.
Sameshima S; Department of Orthopaedic Surgery Faculty of Medicine, The University of Tokyo, 7-3-1, Hongo, Bunkyo-Ku, Tokyo, 113-8655, Japan.
Inui H; Department of Orthopaedic Surgery Faculty of Medicine, The University of Tokyo, 7-3-1, Hongo, Bunkyo-Ku, Tokyo, 113-8655, Japan.
Fujiwara S; UTokyo Sports Science Institute (UTSSI), Komaba I Campus, 3-8-1, Komaba, Meguro-Ku, 3rd Floor, Bldg.9, Tokyo, 153-8902, Japan.; Department of Rehabilitation Medicine, The University of Tokyo, 7-3-1, Hongo, Bunkyo-Ku, Tokyo, 113-8655, Japan.
Tanaka S; Department of Orthopaedic Surgery Faculty of Medicine, The University of Tokyo, 7-3-1, Hongo, Bunkyo-Ku, Tokyo, 113-8655, Japan.
Ogata T; UTokyo Sports Science Institute (UTSSI), Komaba I Campus, 3-8-1, Komaba, Meguro-Ku, 3rd Floor, Bldg.9, Tokyo, 153-8902, Japan.; Department of Rehabilitation Medicine, The University of Tokyo, 7-3-1, Hongo, Bunkyo-Ku, Tokyo, 113-8655, Japan.
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Źródło:
BMC musculoskeletal disorders [BMC Musculoskelet Disord] 2023 Jun 02; Vol. 24 (1), pp. 448. Date of Electronic Publication: 2023 Jun 02.
Typ publikacji:
Journal Article
MeSH Terms:
Football*/injuries
Joint Instability*
Hamstring Muscles*/physiology
Muscular Diseases*
Soft Tissue Injuries*
Athletic Injuries*/epidemiology
Athletic Injuries*/prevention & control
Humans ; Male ; Prospective Studies ; Muscle Strength/physiology ; Risk Factors
Czasopismo naukowe
Tytuł:
A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child.
Autorzy:
van den Heuvel LM; Department of Human Genetics, Amsterdam UMC, location Vrije Universiteit, Amsterdam, the Netherlands.; Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands.
Kater-Kuipers A; Department of Human Genetics, Amsterdam UMC, location Vrije Universiteit, Amsterdam, the Netherlands.; Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands.
van Dijk T; Department of Human Genetics, Amsterdam UMC, location Vrije Universiteit, Amsterdam, the Netherlands.; Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands.
Crefcoeur LL; Wilhelmina Children's Hospital, Section Metabolic Diseases, University Medical Centre Utrecht, Utrecht, the Netherlands.
Visser G; Wilhelmina Children's Hospital, Section Metabolic Diseases, University Medical Centre Utrecht, Utrecht, the Netherlands.
Langeveld M; Department of Endocrinology and Metabolism, Amsterdam UMC, location University of Amsterdam, Amsterdam, the Netherlands.
Henneman L; Department of Human Genetics, Amsterdam UMC, location Vrije Universiteit, Amsterdam, the Netherlands. .; Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jun 02; Vol. 18 (1), pp. 134. Date of Electronic Publication: 2023 Jun 02.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cardiomyopathies*/diagnosis
Muscular Diseases*/diagnosis
Female ; Humans ; Infant, Newborn ; Carnitine/metabolism ; Mothers ; Neonatal Screening
SCR Disease Name:
Systemic carnitine deficiency
Czasopismo naukowe

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