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


Tytuł :
[Clinicopathological Features of Myositis and Necrotizing Myopathy: How to Distinguish between Myositis and Muscular Dystrophy on Muscle Pathology].
Autorzy :
Saito Y; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry.
Nishino I
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Źródło :
Brain and nerve = Shinkei kenkyu no shinpo [Brain Nerve] 2021 Feb; Vol. 73 (2), pp. 147-159.
Typ publikacji :
Journal Article
MeSH Terms :
Muscular Diseases*
Muscular Dystrophies*/diagnosis
Myositis*/diagnosis
Myositis, Inclusion Body*
Autoantibodies ; Child ; Humans ; Muscle, Skeletal
Czasopismo naukowe
Tytuł :
[Professor LIN Guo-hua' s experience in treatment of progressive muscular dystrophy with acupuncture].
Autorzy :
Lin SY; First Clinical Medical School of Guangzhou University of TCM, Guangzhou 510405, Guangdong Province, China; Rehabilitation Center of First Affiliated Hospital of Guangzhou University of TCM, Guangzhou 510405, Guangdong Province.
Wei YZ; First Clinical Medical School of Guangzhou University of TCM, Guangzhou 510405, Guangdong Province, China.
Zhang YC; Department of Orthopaedics and Traumatology of TCM, Guangzhou Tianhe District Hospital of TCM.
Li HZ; First Clinical Medical School of Guangzhou University of TCM, Guangzhou 510405, Guangdong Province, China.
Liu K; First Clinical Medical School of Guangzhou University of TCM, Guangzhou 510405, Guangdong Province, China.
Zeng JC; Rehabilitation Center of First Affiliated Hospital of Guangzhou University of TCM, Guangzhou 510405, Guangdong Province.
Lin GH; Rehabilitation Center of First Affiliated Hospital of Guangzhou University of TCM, Guangzhou 510405, Guangdong Province.
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Źródło :
Zhongguo zhen jiu = Chinese acupuncture & moxibustion [Zhongguo Zhen Jiu] 2020 Dec 12; Vol. 40 (12), pp. 1335-7.
Typ publikacji :
Journal Article
MeSH Terms :
Acupuncture*
Acupuncture Therapy*
Meridians*
Muscular Dystrophies*
Acupuncture Points ; Humans
Czasopismo naukowe
Tytuł :
"Betwixt Mine Eye and Heart a League Is Took": The Progress of Induced Pluripotent Stem-Cell-Based Models of Dystrophin-Associated Cardiomyopathy.
Autorzy :
Rovina D; Centro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, 20138 Milan, Italy.
Castiglioni E; Centro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, 20138 Milan, Italy.
Niro F; Centro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, 20138 Milan, Italy.
Mallia S; Centro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, 20138 Milan, Italy.
Pompilio G; Centro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, 20138 Milan, Italy.; Centro Cardiologico Monzino-IRCCS, Department of Cardiac Surgery, Centro Cardiologico Monzino IRCCS, 20138 Milan, Italy.; Department of Clinical Sciences and Community Health, Università degli Studi di Milano, 20122 Milan, Italy.
Gowran A; Centro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, 20138 Milan, Italy.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2020 Sep 23; Vol. 21 (19). Date of Electronic Publication: 2020 Sep 23.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Cardiomyopathy, Dilated*/genetics
Cardiomyopathy, Dilated*/metabolism
Cardiomyopathy, Dilated*/pathology
Cardiomyopathy, Dilated*/therapy
Dystrophin*/genetics
Dystrophin*/metabolism
Induced Pluripotent Stem Cells*/metabolism
Induced Pluripotent Stem Cells*/pathology
Induced Pluripotent Stem Cells*/transplantation
Muscular Dystrophies*/genetics
Muscular Dystrophies*/metabolism
Muscular Dystrophies*/therapy
Myocytes, Cardiac*/metabolism
Myocytes, Cardiac*/pathology
Stem Cell Transplantation*
Animals ; Clinical Trials as Topic ; Disease Models, Animal ; Humans
Czasopismo naukowe
Tytuł :
Stem cell therapy for muscular dystrophies.
Autorzy :
Biressi S; Department of Cellular, Computational and Integrative Biology (CIBIO) and.; Dulbecco Telethon Institute, University of Trento, Povo, Italy.
Filareto A; Department of Research Beyond Borders, Regenerative Medicine, Boehringer Ingelheim Pharmaceuticals Inc., Ridgefield, Conneticut, USA.
Rando TA; Department of Neurology and Neurological Sciences and.; Paul F. Glenn Center for the Biology of Aging, Stanford University School of Medicine, Stanford, California, USA.; Center for Tissue Regeneration, Repair and Restoration, Veterans Affairs Palo Alto Health Care System, Palo Alto, California, USA.
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Źródło :
The Journal of clinical investigation [J Clin Invest] 2020 Nov 02; Vol. 130 (11), pp. 5652-5664.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.; Review
MeSH Terms :
Cell Differentiation*
Muscular Dystrophies*/metabolism
Muscular Dystrophies*/pathology
Muscular Dystrophies*/therapy
Myoblasts*/metabolism
Myoblasts*/pathology
Myoblasts*/transplantation
Pluripotent Stem Cells*/metabolism
Pluripotent Stem Cells*/pathology
Pluripotent Stem Cells*/transplantation
Stem Cell Transplantation*
Humans ; Muscle, Skeletal/physiology ; Myocardium/metabolism ; Myocardium/pathology ; Regeneration
Czasopismo naukowe
Tytuł :
The lncRNA H19 alleviates muscular dystrophy by stabilizing dystrophin.
Autorzy :
Zhang Y; Department of Molecular and Cellular Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Li Y; Department of Molecular and Cellular Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Hu Q; Department of Molecular and Cellular Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Xi Y; Texas Heart Institute, Houston, Texas, USA.
Xing Z; Department of Molecular and Cellular Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.; Sanofi US, Boston, MA, USA.
Zhang Z; Department of Biochemistry and Molecular Biology, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX, USA.
Huang L; Department of Molecular and Cellular Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Wu J; Center for Stem Cell and Regenerative Medicine (CSCRM), The Brown Foundation Institute of Molecular Medicine for the Prevention of Human Diseases (IMM), The University of Texas Health Science Center at Houston, Houston, TX, USA.
Liang K; Department of Molecular and Cellular Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Nguyen TK; Department of Molecular and Cellular Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Egranov SD; Department of Molecular and Cellular Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Sun C; Department of Molecular and Cellular Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Zhao Z; Department of Molecular and Cellular Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Hawke DH; Department of Systems Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Li J; Center for Epigenetics and Disease Prevention, Institute of Biosciences and Technology, College of Medicine, Texas A&M University, Houston, TX, USA.
Sun D; Center for Epigenetics and Disease Prevention, Institute of Biosciences and Technology, College of Medicine, Texas A&M University, Houston, TX, USA.; Department of Molecular and Cellular Medicine, College of Medicine, Texas A&M University, College Station, TX, USA.
Kim JJ; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA.; Stem Cells and Regenerative Medicine Center, Baylor College of Medicine, Houston, TX, USA.; Advanced Technology Cores, Baylor College of Medicine, Houston, TX, USA.
Zhang P; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA.
Cheng J; Texas Heart Institute, Houston, Texas, USA.
Farida A; Pediatric Neurology, Baylor College of Medicine, Houston, TX, USA.
Hung MC; Graduate Institute of Biomedical Sciences, Research Center for Cancer Biology, and Center for Molecular Medicine, China Medical University, Taichung, Taiwan.; Department of Biotechnology, Asia University, Taichung, Taiwan.
Han L; Department of Biochemistry and Molecular Biology, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX, USA.
Darabi R; Center for Stem Cell and Regenerative Medicine (CSCRM), The Brown Foundation Institute of Molecular Medicine for the Prevention of Human Diseases (IMM), The University of Texas Health Science Center at Houston, Houston, TX, USA.
Lin C; Department of Molecular and Cellular Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA. .; The Graduate School of Biomedical Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX, USA. .
Yang L; Department of Molecular and Cellular Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA. .; The Graduate School of Biomedical Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX, USA. .; Center for RNA Interference and Non-Coding RNAs, The University of Texas MD Anderson Cancer Center, Houston, TX, USA. .
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Źródło :
Nature cell biology [Nat Cell Biol] 2020 Nov; Vol. 22 (11), pp. 1332-1345. Date of Electronic Publication: 2020 Oct 26.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Video-Audio Media
MeSH Terms :
Muscle, Skeletal/*metabolism
Muscular Dystrophies/*prevention & control
Oligonucleotides/*administration & dosage
RNA, Long Noncoding/*metabolism
Animals ; Antipyrine/administration & dosage ; Antipyrine/analogs & derivatives ; Cardiomyopathies/genetics ; Cardiomyopathies/metabolism ; Cardiomyopathies/pathology ; Cardiomyopathies/prevention & control ; Cell Line ; Disease Models, Animal ; Dystrophin/genetics ; Dystrophin/metabolism ; Enzyme Inhibitors/administration & dosage ; Female ; Half-Life ; Humans ; Induced Pluripotent Stem Cells/metabolism ; Induced Pluripotent Stem Cells/pathology ; Male ; Mice, Inbred C57BL ; Mice, Inbred mdx ; Mice, Mutant Strains ; Muscle Proteins/antagonists & inhibitors ; Muscle Proteins/metabolism ; Muscle Strength ; Muscle, Skeletal/pathology ; Muscle, Skeletal/physiopathology ; Muscular Dystrophies/genetics ; Muscular Dystrophies/metabolism ; Muscular Dystrophies/pathology ; Mutation ; Myocytes, Cardiac/metabolism ; Myocytes, Cardiac/pathology ; Niacinamide/administration & dosage ; Niacinamide/analogs & derivatives ; Oligonucleotides/genetics ; Oligonucleotides/metabolism ; Protein Stability ; Proteolysis ; RNA, Long Noncoding/genetics ; Tripartite Motif Proteins/antagonists & inhibitors ; Tripartite Motif Proteins/metabolism ; Ubiquitin-Protein Ligases/antagonists & inhibitors ; Ubiquitin-Protein Ligases/metabolism ; Ubiquitination
Czasopismo naukowe
Tytuł :
Mandibular and Maxillary Cysts in a Pediatric Patient with Pierre Robin Sequence and Ullrich Congenital Muscular Dystrophy.
Autorzy :
Duong KW
Reddy SC
Buchanan EP
Chen JH
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Źródło :
Anesthesiology [Anesthesiology] 2020 Oct 01; Vol. 133 (4), pp. 919-920.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Cysts/*diagnostic imaging
Mandible/*diagnostic imaging
Maxilla/*diagnostic imaging
Muscular Dystrophies/*diagnostic imaging
Pierre Robin Syndrome/*diagnostic imaging
Sclerosis/*diagnostic imaging
Child, Preschool ; Cysts/complications ; Cysts/surgery ; Humans ; Mandible/surgery ; Maxilla/surgery ; Muscular Dystrophies/complications ; Muscular Dystrophies/surgery ; Pierre Robin Syndrome/complications ; Pierre Robin Syndrome/surgery ; Sclerosis/complications ; Sclerosis/surgery
SCR Disease Name :
Scleroatonic muscular dystrophy
Czasopismo naukowe
Tytuł :
Teaching NeuroImages: Amyloid myopathy: Not your usual suspects.
Autorzy :
Pinto MV; From the Department of Neurology, Mayo Clinic, Rochester, MN. .
Tracy JA; From the Department of Neurology, Mayo Clinic, Rochester, MN.
Liewluck T; From the Department of Neurology, Mayo Clinic, Rochester, MN.
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Źródło :
Neurology [Neurology] 2020 Sep 01; Vol. 95 (9), pp. e1290-e1291. Date of Electronic Publication: 2020 Jul 01.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Muscle, Skeletal/*pathology
Muscular Dystrophies/*pathology
Plaque, Amyloid/*pathology
Adult ; Atrophy ; Creatine Kinase/blood ; Dysferlin/genetics ; Electromyography ; High-Throughput Nucleotide Sequencing ; Humans ; Leg ; Male ; Muscle Weakness ; Muscular Dystrophies/blood ; Muscular Dystrophies/diagnosis ; Muscular Dystrophies/genetics
Czasopismo naukowe
Tytuł :
TRIM32, but not its muscular dystrophy-associated mutant, positively regulates and is targeted to autophagic degradation by p62/SQSTM1.
Autorzy :
Overå KS; Molecular Cancer Research Group, Department of Medical Biology, University of Tromsø -The Arctic University of Norway, 9037 Tromsø, Norway.
Garcia-Garcia J; Molecular Cancer Research Group, Department of Medical Biology, University of Tromsø -The Arctic University of Norway, 9037 Tromsø, Norway.
Bhujabal Z; Molecular Cancer Research Group, Department of Medical Biology, University of Tromsø -The Arctic University of Norway, 9037 Tromsø, Norway.
Jain A; Molecular Cancer Research Group, Department of Medical Biology, University of Tromsø -The Arctic University of Norway, 9037 Tromsø, Norway.
Øvervatn A; Molecular Cancer Research Group, Department of Medical Biology, University of Tromsø -The Arctic University of Norway, 9037 Tromsø, Norway.
Larsen KB; Molecular Cancer Research Group, Department of Medical Biology, University of Tromsø -The Arctic University of Norway, 9037 Tromsø, Norway.
Deretic V; Autophagy Inflammation and Metabolism Center of Biomedical Research Excellence, University of New Mexico Health Sciences Center, Albuquerque, NM 87131, USA.; Department of Molecular Genetics and Microbiology, University of New Mexico Health Sciences Center, Albuquerque, NM 87131, USA.
Johansen T; Molecular Cancer Research Group, Department of Medical Biology, University of Tromsø -The Arctic University of Norway, 9037 Tromsø, Norway.
Lamark T; Molecular Cancer Research Group, Department of Medical Biology, University of Tromsø -The Arctic University of Norway, 9037 Tromsø, Norway.
Sjøttem E; Molecular Cancer Research Group, Department of Medical Biology, University of Tromsø -The Arctic University of Norway, 9037 Tromsø, Norway .
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Źródło :
Journal of cell science [J Cell Sci] 2019 Dec 02; Vol. 132 (23). Date of Electronic Publication: 2019 Dec 02.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Muscular Dystrophies/*metabolism
Sequestosome-1 Protein/*metabolism
Transcription Factors/*metabolism
Tripartite Motif Proteins/*metabolism
Ubiquitin-Protein Ligases/*metabolism
Autophagy/genetics ; Autophagy/physiology ; HEK293 Cells ; HeLa Cells ; Humans ; Immunoprecipitation ; Muscular Dystrophies/genetics ; Muscular Dystrophies, Limb-Girdle/genetics ; Muscular Dystrophies, Limb-Girdle/metabolism ; Protein Binding ; Sequestosome-1 Protein/genetics ; Transcription Factors/genetics ; Tripartite Motif Proteins/genetics ; Ubiquitin-Protein Ligases/genetics
SCR Disease Name :
Limb-girdle muscular dystrophy type 2H
Czasopismo naukowe
Tytuł :
[Expert consensus on rehabilitation assessment and treatment for dystrophinopathy of childhood].
Corporate Authors :
Subspecialty Group of Rehabilitation, the Society of Pediatrics, Chinese Medical Association
Źródło :
Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2020 Nov 02; Vol. 58 (11), pp. 875-880.
Typ publikacji :
Journal Article
MeSH Terms :
Muscular Dystrophies*/rehabilitation
Child ; Consensus ; Dystrophin ; Humans
Czasopismo naukowe
Tytuł :
Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related.
Autorzy :
Libell EM; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
Richardson JA; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
Lutz KL; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
Ng BY; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
Mockler SRH; Center for Disabilities and Development, University of Iowa Stead Family Children's Hospital, Iowa City, Iowa, USA.
Laubscher KM; Center for Disabilities and Development, University of Iowa Stead Family Children's Hospital, Iowa City, Iowa, USA.
Stephan CM; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
Zimmerman BM; Department of Biostatistics, College of Public Health, University of Iowa, Iowa City, Iowa, USA.
Edens ER; Children's Heart Center, Children's Minnesota, Minneapolis, Minnesota, USA.
Reinking BE; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
Mathews KD; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
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Źródło :
Muscle & nerve [Muscle Nerve] 2020 Nov; Vol. 62 (5), pp. 626-632. Date of Electronic Publication: 2020 Sep 10.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Cardiomyopathies/*epidemiology
Cardiomyopathies/*genetics
Muscular Dystrophies, Limb-Girdle/*epidemiology
Adolescent ; Adult ; Age of Onset ; Cardiomyopathies/complications ; Female ; Genotype ; Humans ; Male ; Middle Aged ; Muscular Dystrophies, Limb-Girdle/complications ; Pentosyltransferases ; Retrospective Studies ; Survival Analysis
Czasopismo naukowe
Tytuł :
H19 lncRNA to dystrophin's rescue.
Autorzy :
Ritso M; Sprott Centre for Stem Cell Research, Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.
Rudnicki MA; Sprott Centre for Stem Cell Research, Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada. .; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada. .
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Źródło :
Nature cell biology [Nat Cell Biol] 2020 Nov; Vol. 22 (11), pp. 1289-1290.
Typ publikacji :
Journal Article; Comment
MeSH Terms :
Muscular Dystrophies*
RNA, Long Noncoding*/genetics
Dystrophin/genetics ; Humans
Czasopismo naukowe
Tytuł :
The correlation of clinical evaluation with life quality and mental status in a Chinese cohort with dysferlinopathy.
Autorzy :
Feng X; Department of Neurology, Huashan Hospital Fudan University, Shanghai 200040, China.
Liu C; Department of Neurology, The Fourth Affiliated Hospital of Nantong University, Yancheng, Jiangsu 224001, China.
Xi J; Department of Neurology, Huashan Hospital Fudan University, Shanghai 200040, China.
Sun C; Department of Neurology, Huashan Hospital Fudan University, Shanghai 200040, China.
Yue D; Department of Neurology, Jing'an District Center Hospital of Shanghai, Shanghai 200040, China.
Zhu W; Department of Neurology, Huashan Hospital Fudan University, Shanghai 200040, China.
Li J; Department of Radiology, Jing'an District Center Hospital of Shanghai, Shanghai 200040, China.
Liang Z; Department of Radiology, Jing'an District Center Hospital of Shanghai, Shanghai 200040, China.
Lu J; Department of Neurology, Huashan Hospital Fudan University, Shanghai 200040, China. Electronic address: .
Luo S; Department of Neurology, Huashan Hospital Fudan University, Shanghai 200040, China. Electronic address: .
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Źródło :
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia [J Clin Neurosci] 2020 Nov; Vol. 81, pp. 259-264. Date of Electronic Publication: 2020 Oct 16.
Typ publikacji :
Journal Article
MeSH Terms :
Mental Health*
Asian Continental Ancestry Group/*psychology
Mental Disorders/*psychology
Muscular Dystrophies, Limb-Girdle/*psychology
Quality of Life/*psychology
Surveys and Questionnaires/*standards
Adult ; Cohort Studies ; Cross-Sectional Studies ; Female ; Humans ; Male ; Mental Disorders/diagnosis ; Middle Aged ; Muscular Dystrophies, Limb-Girdle/diagnosis ; Retrospective Studies ; Young Adult
SCR Disease Name :
Dysferlinopathy
Czasopismo naukowe
Tytuł :
[Limb-girdle muscular dystrophy-25 with cardiac involvement : a case report].
Autorzy :
Zhang J; Division of Life Sciences and Medicine,First Affiliated Hospital of University of Science and Technology of China, Hefei 230001, China.
Ma LK; Division of Life Sciences and Medicine,First Affiliated Hospital of University of Science and Technology of China, Hefei 230001, China.
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Źródło :
Zhonghua xin xue guan bing za zhi [Zhonghua Xin Xue Guan Bing Za Zhi] 2020 Oct 24; Vol. 48 (10), pp. 878-879.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Muscular Dystrophies, Limb-Girdle*/genetics
Heart ; Humans
Czasopismo naukowe
Tytuł :
Treatment with galectin-1 improves myogenic potential and membrane repair in dysferlin-deficient models.
Autorzy :
Vallecillo-Zúniga ML; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
Rathgeber MF; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
Poulson PD; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
Hayes S; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
Luddington JS; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
Gill HN; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
Teynor M; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
Kartchner BC; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
Valdoz J; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
Stowell C; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
Markham AR; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
Arthur C; Center for Apheresis, Emory Hospital, Laboratory and Blood Bank, Emory Orthopaedics and Spine Hospital, Center for Transfusion and Cellular Therapies, School of Medicine, Emory University, Atlanta, GA, United States of America.
Stowell S; Center for Apheresis, Emory Hospital, Laboratory and Blood Bank, Emory Orthopaedics and Spine Hospital, Center for Transfusion and Cellular Therapies, School of Medicine, Emory University, Atlanta, GA, United States of America.
Van Ry PM; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
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Źródło :
PloS one [PLoS One] 2020 Sep 03; Vol. 15 (9), pp. e0238441. Date of Electronic Publication: 2020 Sep 03 (Print Publication: 2020).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Dysferlin/*genetics
Galectin 1/*pharmacology
Muscular Dystrophies, Limb-Girdle/*therapy
Animals ; Cell Line ; Disease Models, Animal ; Dysferlin/metabolism ; Galectin 1/metabolism ; Male ; Membrane Proteins/metabolism ; Membranes/metabolism ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Muscle Development/genetics ; Muscle Fibers, Skeletal/metabolism ; Muscle Proteins/metabolism ; Muscle, Skeletal/metabolism ; Muscular Dystrophies, Limb-Girdle/metabolism ; Myofibrils/metabolism
SCR Disease Name :
Limb-girdle muscular dystrophy, type 2B
Czasopismo naukowe
Tytuł :
Myostatin inhibition promotes fast fibre hypertrophy but causes loss of AMP-activated protein kinase signalling and poor exercise tolerance in a model of limb-girdle muscular dystrophy R1/2A.
Autorzy :
Kramerova I; Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Marinov M; Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Owens J; Pfizer Inc., Cambridge, MA, USA.
Lee SJ; The Jackson Laboratory and University of Connecticut School of Medicine, Farmington, CT, USA.
Becerra D; Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Spencer MJ; Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
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Źródło :
The Journal of physiology [J Physiol] 2020 Sep; Vol. 598 (18), pp. 3927-3939. Date of Electronic Publication: 2020 Jul 24.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Muscular Dystrophies, Limb-Girdle*/genetics
Myostatin*/genetics
AMP-Activated Protein Kinases ; Animals ; Calpain ; Exercise Tolerance ; Humans ; Hypertrophy ; Mice ; Muscle Proteins ; Muscle, Skeletal
Czasopismo naukowe
Tytuł :
The effects of concentric and eccentric training in murine models of dysferlin-associated muscular dystrophy.
Autorzy :
Begam M; Physical Therapy Program, Department of Health Care Sciences, Eugene Applebaum College of Pharmacy and Health Sciences, Wayne State University, Detroit, Michigan.
Roche R; Occupational Therapy Program, College of Health and Human Services, Eastern Michigan University, Ypsilanti, Michigan.
Hass JJ; Physical Therapy Program, Department of Health Care Sciences, Eugene Applebaum College of Pharmacy and Health Sciences, Wayne State University, Detroit, Michigan.
Basel CA; Physical Therapy Program, Department of Health Care Sciences, Eugene Applebaum College of Pharmacy and Health Sciences, Wayne State University, Detroit, Michigan.
Blackmer JM; Physical Therapy Program, Department of Health Care Sciences, Eugene Applebaum College of Pharmacy and Health Sciences, Wayne State University, Detroit, Michigan.
Konja JT; Physical Therapy Program, Department of Health Care Sciences, Eugene Applebaum College of Pharmacy and Health Sciences, Wayne State University, Detroit, Michigan.
Samojedny AL; Physical Therapy Program, Department of Health Care Sciences, Eugene Applebaum College of Pharmacy and Health Sciences, Wayne State University, Detroit, Michigan.
Collier AF; Rehabilitation Department, Emory University Hospital, Atlanta, Georgia.
Galen SS; Department of Physical Therapy, Byrdine F. Lewis College of Nursing & Health Professions, Georgia State University, Atlanta, Georgia.
Roche JA; Physical Therapy Program, Department of Health Care Sciences, Eugene Applebaum College of Pharmacy and Health Sciences, Wayne State University, Detroit, Michigan.
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Źródło :
Muscle & nerve [Muscle Nerve] 2020 Sep; Vol. 62 (3), pp. 393-403. Date of Electronic Publication: 2020 Jul 08.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Dysferlin/*genetics
Muscle Contraction/*physiology
Muscle, Skeletal/*physiopathology
Muscular Dystrophies, Limb-Girdle/*rehabilitation
Physical Conditioning, Animal/*physiology
Animals ; Disease Models, Animal ; Mice ; Mice, Knockout ; Muscular Dystrophies, Limb-Girdle/physiopathology
SCR Disease Name :
Dysferlinopathy
Czasopismo naukowe
Tytuł :
Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex.
Autorzy :
Xie Z; Department of Neurology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Xie Z; Department of Epidemiology and Biostatistics, West China School of Public Health, Sichuan University, Chengdu, China.
Yu M; Department of Neurology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Zheng Y; Department of Neurology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Sun C; Department of Neurology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Liu Y; Department of Neurology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Ling C; Department of Neurology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Zhu Y; Department of Radiology, Peking University First Hospital, Beijing, China.
Zhang W; Department of Neurology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Xiao J; Department of Radiology, Peking University First Hospital, Beijing, China.
Wang Z; Department of Neurology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing, 100034, China. .
Yuan Y; Department of Neurology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing, 100034, China. .
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Nov 12; Vol. 14 (1), pp. 250. Date of Electronic Publication: 2019 Nov 12.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Diagnosis, Differential*
Magnetic Resonance Imaging/*methods
Muscular Dystrophies/*diagnosis
Muscular Dystrophies/*diagnostic imaging
Adolescent ; Adult ; Biopsy ; Dystrophin/genetics ; Dystrophin/metabolism ; Female ; Glycoproteins/metabolism ; Humans ; Male ; Middle Aged ; Muscle, Skeletal/diagnostic imaging ; Muscle, Skeletal/metabolism ; Muscular Dystrophies/genetics ; Muscular Dystrophies, Limb-Girdle/diagnosis ; Muscular Dystrophies, Limb-Girdle/diagnostic imaging ; Mutation
Czasopismo naukowe
Tytuł :
Myofibers deficient in connexins 43 and 45 expression protect mice from skeletal muscle and systemic dysfunction promoted by a dysferlin mutation.
Autorzy :
Fernández G; Instituto de Ciencias Biomédicas, Facultad de Ciencias de la Salud, Universidad Autónoma de Chile, Santiago, Chile.
Arias-Bravo G; Instituto de Ciencias Biomédicas, Facultad de Ciencias de la Salud, Universidad Autónoma de Chile, Santiago, Chile; Instituto de Ciencias de la Salud, Universidad de O'Higgins, Rancagua, Chile.
Bevilacqua JA; Departamento de Neurología y Neurocirugía, Hospital Clínico Univeridad de Chile y Departamento de Anatomía y Medicina legal, Facultad de Medicina, Universidad de Chile, Santiago, Chile; Departamento de Neurología y Neurocirugía, Clínica Davila, y Corporacion de Investigaciones Neurológicas de Santiago (CINSAN), Santiago, Chile.
Castillo-Ruiz M; Escuela de Química y Farmacia, Facultad de Medicina, Universidad Andres Bello, Santiago, Chile; Departamento de Ciencias Químicas y Biológicas, Facultad de Salud, Universidad Bernardo O Higgins, Santiago, Chile.
Caviedes P; Programa de Farmacología, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, Santiago, Chile; Centro de Biotecnología y Bioingeniería (CeBiB), Depto de Ingeniería Química, Biotecnología y Materiales, Fac. de Ciencias Físicas y Matemáticas, Universidad de Chile, Santiago, Chile.
Sáez JC; Departamento de Fisiología, Fac. de Ciencias Biológicas, Pontificia Universidad Católica de Chile, Santiago, Chile; Instituto de Neurociencias, Centro Interdisciplinario de Neurociencias, Universidad de Valparaíso, Valparaíso, Chile. Electronic address: .
Cea LA; Instituto de Ciencias Biomédicas, Facultad de Ciencias de la Salud, Universidad Autónoma de Chile, Santiago, Chile. Electronic address: .
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Źródło :
Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2020 Aug 01; Vol. 1866 (8), pp. 165800. Date of Electronic Publication: 2020 Apr 16.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Connexin 43/*genetics
Connexins/*genetics
Dysferlin/*genetics
Muscular Dystrophies, Limb-Girdle/*genetics
Muscular Dystrophies, Limb-Girdle/*prevention & control
Myofibrils/*genetics
Animals ; Calcium/metabolism ; Connexin 43/deficiency ; Connexins/deficiency ; Creatine Kinase/blood ; Creatine Kinase/genetics ; Disease Models, Animal ; Dysferlin/deficiency ; Gene Expression ; Humans ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Muscular Dystrophies, Limb-Girdle/metabolism ; Muscular Dystrophies, Limb-Girdle/pathology ; Mutation ; Myofibrils/metabolism ; Myofibrils/pathology ; Permeability ; Physical Conditioning, Animal ; Rotarod Performance Test ; Sarcolemma/metabolism
SCR Disease Name :
Dysferlinopathy
Czasopismo naukowe
Tytuł :
Limb Girdle Muscular Dystrophies.
Autorzy :
Bockhorst J; University of Colorado School of Medicine, Anschutz Medical Campus, Mail Stop B185, Academic Office 1, 12631 East 17th Avenue, Aurora, CO 80045, USA.
Wicklund M; University of Colorado School of Medicine, Anschutz Medical Campus, Mail Stop B185, Academic Office 1, 12631 East 17th Avenue, Aurora, CO 80045, USA. Electronic address: .
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Źródło :
Neurologic clinics [Neurol Clin] 2020 Aug; Vol. 38 (3), pp. 493-504.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Muscle, Skeletal/*diagnostic imaging
Muscular Dystrophies, Limb-Girdle/*diagnostic imaging
Muscular Dystrophies, Limb-Girdle/*genetics
Adult ; Disease Progression ; Female ; Humans ; Male ; Middle Aged ; Muscular Dystrophies, Limb-Girdle/therapy
Czasopismo naukowe
Tytuł :
Needle EMG, a Jigsaw to Disclose Lipid Storage Myopathy Due to Multiple Acyl-CoA Dehydrogenase Deficiency.
Autorzy :
Santananukarn M; From the Division of Neurology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand (MS, JA, NP); King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, Thailand (MS, JA, NP, SJ); and Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand (SJ).
Amornvit J
Pasutharnchat N
Jongpiputvanich S
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Źródło :
American journal of physical medicine & rehabilitation [Am J Phys Med Rehabil] 2020 Jun; Vol. 99 (6), pp. e71-e74.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Electromyography/*methods
Lipid Metabolism, Inborn Errors/*etiology
Lipid Metabolism, Inborn Errors/*physiopathology
Multiple Acyl Coenzyme A Dehydrogenase Deficiency/*complications
Multiple Acyl Coenzyme A Dehydrogenase Deficiency/*physiopathology
Muscular Dystrophies/*etiology
Muscular Dystrophies/*physiopathology
Adult ; Female ; Humans ; Lipid Metabolism, Inborn Errors/drug therapy ; Lipid Metabolism, Inborn Errors/genetics ; Multiple Acyl Coenzyme A Dehydrogenase Deficiency/drug therapy ; Multiple Acyl Coenzyme A Dehydrogenase Deficiency/genetics ; Muscular Dystrophies/drug therapy ; Muscular Dystrophies/genetics ; Riboflavin/therapeutic use
SCR Disease Name :
Myopathy with Abnormal Lipid Metabolism
Czasopismo naukowe

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