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Wyszukujesz frazę ""muscular dystrophies"" wg kryterium: Temat


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Tytuł :
FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy.
Autorzy :
Wood AJ; Australian Regenerative Medicine Institute (ARMI), Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; EMBL Australia, Victorian Node, Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.
Lin CH; Biomolecular Discovery and Design Research Centre, Department of Molecular Sciences, Faculty of Science & Engineering, Macquarie University, Sydney, NSW, Australia.; Institute for Glycomics, Griffith University, Gold Coast, QLD, Australia.
Li M; Australian Regenerative Medicine Institute (ARMI), Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; EMBL Australia, Victorian Node, Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.
Nishtala K; Biomolecular Discovery and Design Research Centre, Department of Molecular Sciences, Faculty of Science & Engineering, Macquarie University, Sydney, NSW, Australia.; Institute for Glycomics, Griffith University, Gold Coast, QLD, Australia.
Alaei S; Australian Regenerative Medicine Institute (ARMI), Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; EMBL Australia, Victorian Node, Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.
Rossello F; Australian Regenerative Medicine Institute (ARMI), Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; University of Melbourne Centre for Cancer Research, The University of Melbourne, Melbourne, VIC, Australia.
Sonntag C; Australian Regenerative Medicine Institute (ARMI), Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; EMBL Australia, Victorian Node, Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.
Hersey L; Australian Regenerative Medicine Institute (ARMI), Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; EMBL Australia, Victorian Node, Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.
Miles LB; Australian Regenerative Medicine Institute (ARMI), Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; School of Biological Sciences, Monash University, Clayton, VIC, Australia.
Krisp C; Biomolecular Discovery and Design Research Centre, Department of Molecular Sciences, Faculty of Science & Engineering, Macquarie University, Sydney, NSW, Australia.
Dudczig S; Australian Regenerative Medicine Institute (ARMI), Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; EMBL Australia, Victorian Node, Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; School of Bio-Sciences, Faculty of Science, The University of Melbourne, Parkville, VIC, Australia.
Fulcher AJ; Monash Micro Imaging Facility, Monash University, Clayton, VIC, Australia.
Gibertini S; Muscle Cell Biology Laboratory, Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico 'Carlo. Besta' Via Temolo 4, Milano, Italy.
Conroy PJ; Department of Biochemistry and Molecular Biology, Faculty of Medicine, Nursing and Health Science, Monash University, Melbourne, VIC, Australia.; Monash Antibody Technologies Facility (MATF), Monash University, Clayton, VIC, Australia.
Siegel A; Australian Regenerative Medicine Institute (ARMI), Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; EMBL Australia, Victorian Node, Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.
Mora M; Muscle Cell Biology Laboratory, Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico 'Carlo. Besta' Via Temolo 4, Milano, Italy.
Jusuf P; Australian Regenerative Medicine Institute (ARMI), Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; EMBL Australia, Victorian Node, Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; School of Bio-Sciences, Faculty of Science, The University of Melbourne, Parkville, VIC, Australia.
Packer NH; Biomolecular Discovery and Design Research Centre, Department of Molecular Sciences, Faculty of Science & Engineering, Macquarie University, Sydney, NSW, Australia.; Institute for Glycomics, Griffith University, Gold Coast, QLD, Australia.
Currie PD; Australian Regenerative Medicine Institute (ARMI), Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia. .; EMBL Australia, Victorian Node, Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia. .
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Źródło :
Nature communications [Nat Commun] 2021 May 19; Vol. 12 (1), pp. 2951. Date of Electronic Publication: 2021 May 19.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Fibronectins/*metabolism
Glycosyltransferases/*metabolism
Muscular Dystrophies/*metabolism
Muscular Dystrophies/*pathology
Muscular Dystrophy, Animal/*metabolism
Muscular Dystrophy, Animal/*pathology
Pentosyltransferases/*metabolism
Zebrafish Proteins/*metabolism
Animals ; Basement Membrane/metabolism ; Basement Membrane/pathology ; Cell Line ; Disease Models, Animal ; Gene Knockout Techniques ; Glycosylation ; Glycosyltransferases/deficiency ; Glycosyltransferases/genetics ; Humans ; Male ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Muscular Dystrophies/genetics ; Muscular Dystrophies, Limb-Girdle/genetics ; Muscular Dystrophies, Limb-Girdle/metabolism ; Muscular Dystrophies, Limb-Girdle/pathology ; Muscular Dystrophy, Animal/genetics ; Mutation ; Myoblasts, Skeletal/metabolism ; Myoblasts, Skeletal/pathology ; Pentosyltransferases/deficiency ; Pentosyltransferases/genetics ; Phenotype ; Zebrafish ; Zebrafish Proteins/deficiency ; Zebrafish Proteins/genetics
SCR Disease Name :
Muscular Dystrophy, Limb-Girdle, Type 2I
Czasopismo naukowe
Tytuł :
Psychological parameters impact health-related quality of life in mental and physical domains in adults with muscular dystrophy.
Autorzy :
O'Dowd DN; Research Centre for Musculoskeletal Science & Sports Medicine, Department of Sport and Exercise Sciences, Manchester Metropolitan University, Manchester M15 6BH, United Kingdom. Electronic address: .
Bostock EL; Musculoskeletal Physiology Research Group, School of Science and Technology, Nottingham Trent University, Nottingham, United Kingdom.
Smith D; Research Centre for Musculoskeletal Science & Sports Medicine, Department of Sport and Exercise Sciences, Manchester Metropolitan University, Manchester M15 6BH, United Kingdom.
Morse CI; Research Centre for Musculoskeletal Science & Sports Medicine, Department of Sport and Exercise Sciences, Manchester Metropolitan University, Manchester M15 6BH, United Kingdom.
Orme P; The Neuromuscular Centre, Winsford, Cheshire, United Kingdom.
Payton CJ; Research Centre for Musculoskeletal Science & Sports Medicine, Department of Sport and Exercise Sciences, Manchester Metropolitan University, Manchester M15 6BH, United Kingdom.
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 Apr; Vol. 31 (4), pp. 328-335. Date of Electronic Publication: 2021 Jan 19.
Typ publikacji :
Journal Article
MeSH Terms :
Quality of Life*
Muscular Dystrophies/*psychology
Adult ; Aged ; Anxiety/epidemiology ; Depression/epidemiology ; Female ; Humans ; Male ; Middle Aged ; Muscular Dystrophies, Limb-Girdle/psychology ; Muscular Dystrophy, Duchenne/psychology ; Physical Functional Performance ; Self Concept
Czasopismo naukowe
Tytuł :
Epilepsy in LAMA2-related muscular dystrophy: A systematic review of the literature.
Autorzy :
Salvati A; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Bonaventura E; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Sesso G; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Pasquariello R; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Calambrone, Pisa, Italy.
Sicca F; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Calambrone, Pisa, Italy. Electronic address: .
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Źródło :
Seizure [Seizure] 2021 Oct; Vol. 91, pp. 425-436. Date of Electronic Publication: 2021 Jul 21.
Typ publikacji :
Journal Article; Review; Systematic Review
MeSH Terms :
Epilepsy*/genetics
Muscular Dystrophies*/complications
Muscular Dystrophies*/genetics
Muscular Dystrophies, Limb-Girdle*
Child ; Electroencephalography ; Humans ; Laminin/genetics ; Male
Czasopismo naukowe
Tytuł :
FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.
Autorzy :
Awano H; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo, Kobe, Hyogo 650-0017, Japan. Electronic address: .
Saito Y; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-Higashi-cho, Kodaira, Tokyo 187-8502, Japan.
Shimizu M; Shimizu Children's Clinic, 3-152 Komaki, Komaki, Aichi 485-0041, Japan.
Sekiguchi K; Division of Neurology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo, Kobe, Hyogo 650-0017, Japan.
Niijima S; Department of Pediatrics, Juntendo University, Nerima Hospital, 3-1-10 Takanodai, Nerima, Tokyo 177-8521, Japan.
Matsuo M; Research Center for Locomotion Biology, Kobe Gakuin Univesity, 518 Arise, Ikawadani-cho, Nishi, Kobe, Hyogo 651-2180, Japan.
Maegaki Y; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, 86 Nishi-cho, Yonago, Tottori 683-8504, Japan.
Izumi I; Ibaraki Children's Hospital, 3-3-1 Futabadai, Mito, Ibaraki 311-4145, Japan.
Kikuchi C; Department of Pediatrics, National Hospital Organization Ehime Medical Center, 366 Yokogawara, Toon, Ehime 791-0281, Japan.
Ishibashi M; Department of Neurology, Faculty of Medicine, Oita University, 1-1 Hasamamachi-idaigaoka, Yufu, Oita 879-5593, Japan.
Okazaki T; Department of Clinical Genetics, Tottori University Hospital, 36-1 Nishi-cho, Yonago, Tottori 683-8504, Japan.
Komaki H; Translational Medical Center, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-Higashi-cho, Kodaira, Tokyo 187-8502, Japan.
Iijima K; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo, Kobe, Hyogo 650-0017, Japan.
Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-Higashi-cho, Kodaira, Tokyo 187-8502, Japan.
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Źródło :
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia [J Clin Neurosci] 2021 Oct; Vol. 92, pp. 215-221. Date of Electronic Publication: 2021 Aug 28.
Typ publikacji :
Journal Article
MeSH Terms :
Muscular Dystrophies*
Muscular Dystrophies, Limb-Girdle*/genetics
Dystroglycans/genetics ; Humans ; Muscle, Skeletal ; Mutation ; Pentosyltransferases/genetics
Czasopismo naukowe
Tytuł :
Skeletal muscle immunohistochemistry of acquired and hereditary myopathies.
Autorzy :
Danielsson O; Division of Neurology, Department of Biomedical and Clinical Sciences, Faculty of Medicine and Health Sciences, Linköping University, Linköping, Sweden.
Häggqvist B
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Źródło :
Current opinion in rheumatology [Curr Opin Rheumatol] 2021 Nov 01; Vol. 33 (6), pp. 529-536.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Muscular Diseases*/diagnosis
Muscular Diseases*/genetics
Muscular Dystrophies*/diagnosis
Muscular Dystrophies*/genetics
Myositis*
Humans ; Immunohistochemistry ; Muscle, Skeletal
Czasopismo naukowe
Tytuł :
Inhibition of autophagy rescues muscle atrophy in a LGMDD2 Drosophila model.
Autorzy :
Blázquez-Bernal Á; Translational Genomics Group, University Institute for Biotechnology and Biomedicine (BIOTECMED), University of Valencia, Valencia, Spain.; Area of Metabolism and Organic Failure, Incliva Health Research Institute, Valencia, Spain.; Incliva-CIPF Joint Unit, Valencia, Spain.
Fernandez-Costa JM; Translational Genomics Group, University Institute for Biotechnology and Biomedicine (BIOTECMED), University of Valencia, Valencia, Spain.; Area of Metabolism and Organic Failure, Incliva Health Research Institute, Valencia, Spain.; Incliva-CIPF Joint Unit, Valencia, Spain.
Bargiela A; Translational Genomics Group, University Institute for Biotechnology and Biomedicine (BIOTECMED), University of Valencia, Valencia, Spain.; Area of Metabolism and Organic Failure, Incliva Health Research Institute, Valencia, Spain.; Incliva-CIPF Joint Unit, Valencia, Spain.
Artero R; Translational Genomics Group, University Institute for Biotechnology and Biomedicine (BIOTECMED), University of Valencia, Valencia, Spain.; Area of Metabolism and Organic Failure, Incliva Health Research Institute, Valencia, Spain.; Incliva-CIPF Joint Unit, Valencia, Spain.
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Źródło :
FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2021 Oct; Vol. 35 (10), pp. e21914.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Disease Models, Animal*
Autophagy/*drug effects
Chloroquine/*pharmacology
Chloroquine/*therapeutic use
Drosophila melanogaster/*drug effects
Muscular Atrophy/*drug therapy
Muscular Dystrophies, Limb-Girdle/*complications
Animals ; Animals, Genetically Modified ; Autophagy/genetics ; Drosophila melanogaster/genetics ; Female ; Humans ; Insect Hormones ; Locomotion ; Male ; Motor Neurons/metabolism ; Muscles/metabolism ; Muscular Atrophy/complications ; Muscular Atrophy/genetics ; Muscular Atrophy/pathology ; Muscular Dystrophies, Limb-Girdle/drug therapy ; Muscular Dystrophies, Limb-Girdle/genetics ; Muscular Dystrophies, Limb-Girdle/pathology ; Phenotype ; Survival Rate ; beta Karyopherins/genetics ; beta Karyopherins/metabolism
Czasopismo naukowe
Tytuł :
Dilated cardiomyopathy and mild limb girdle muscular dystrophy caused by the p.Gly424Ser genetic variant in the fukutin gene.
Autorzy :
Larrañaga-Moreira JM; Unidad de Cardiopatías Familiares, Complexo Hospitalario Universitario de A Coruña (CHUAC), A Coruña, Spain; Instituto de Investigación Biomédica de A Coruña (INIBIC), A Coruña, Spain; Faculdade de Medicina, Universidade da Coruña (UDC), A Coruña, Spain; Servizo Galego de Saúde (SERGAS), Spain. Electronic address: .
Blanco-Arias P; Área de Neurología, Health in Code S.L., A Coruña, Spain.
San Millán-Tejado B; Servizo Galego de Saúde (SERGAS), Spain; Servicio de Anatomía Patológica, Neuropatología, Hospital Álvaro Cunqueiro, Vigo, Pontevedra, Spain.
Barge-Caballero G; Instituto de Investigación Biomédica de A Coruña (INIBIC), A Coruña, Spain; Faculdade de Medicina, Universidade da Coruña (UDC), A Coruña, Spain; Servizo Galego de Saúde (SERGAS), Spain; Unidad de Insuficiencia Cardiaca Avanzada y Trasplante Cardiaco, Complexo Hospitalario Universitario de A Coruña (CHUAC), A Coruña, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain.
Crespo-Leiro MG; Instituto de Investigación Biomédica de A Coruña (INIBIC), A Coruña, Spain; Faculdade de Medicina, Universidade da Coruña (UDC), A Coruña, Spain; Servizo Galego de Saúde (SERGAS), Spain; Unidad de Insuficiencia Cardiaca Avanzada y Trasplante Cardiaco, Complexo Hospitalario Universitario de A Coruña (CHUAC), A Coruña, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain.
Barriales-Villa R; Unidad de Cardiopatías Familiares, Complexo Hospitalario Universitario de A Coruña (CHUAC), A Coruña, Spain; Instituto de Investigación Biomédica de A Coruña (INIBIC), A Coruña, Spain; Faculdade de Medicina, Universidade da Coruña (UDC), A Coruña, Spain; Servizo Galego de Saúde (SERGAS), Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain.
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Źródło :
Revista espanola de cardiologia (English ed.) [Rev Esp Cardiol (Engl Ed)] 2021 Nov; Vol. 74 (11), pp. 987-989. Date of Electronic Publication: 2021 Jun 11.
Typ publikacji :
Case Reports
MeSH Terms :
Cardiomyopathy, Dilated*/diagnosis
Cardiomyopathy, Dilated*/genetics
Muscular Dystrophies, Limb-Girdle*/genetics
Humans ; Muscle, Skeletal ; Mutation
Raport
Tytuł :
Fondazione Telethon and Unione Italiana Lotta alla Distrofia Muscolare, a successful partnership for neuromuscular healthcare research of value for patients.
Autorzy :
Ambrosini A; Fondazione Telethon, Via Poerio 14, Milan, Italy. .
Baldessari D; Fondazione Telethon, Via Poerio 14, Milan, Italy.
Pozzi S; Fondazione Telethon, Via Poerio 14, Milan, Italy.; B.E.A. Consulting, Milan, Italy.
Battaglia M; Fondazione Telethon, Via Poerio 14, Milan, Italy.
Beltrami E; Fondazione Telethon, Via Poerio 14, Milan, Italy.
Merico AM; Fondazione Telethon, Via Poerio 14, Milan, Italy.
Rasconi M; UILDM, Unione Italiana Lotta alla Distrofia Muscolare, Padua, Italy.
Monaco L; Fondazione Telethon, Via Poerio 14, Milan, Italy.
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Oct 02; Vol. 16 (1), pp. 408. Date of Electronic Publication: 2021 Oct 02.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Muscular Dystrophies*
Neuromuscular Diseases*
Health Services Research ; Humans ; Italy ; Rare Diseases
Czasopismo naukowe
Tytuł :
Derivation of human pluripotent stem cell line via CRISPR/Cas9 mediated deletion of exon 3 LAMA2 gene (DMBi001-A-1).
Autorzy :
Jelinkova S; Department of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Gronostajowa 7, 30-387 Krakow, Poland.
Martyniak A; Department of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Gronostajowa 7, 30-387 Krakow, Poland.
Dulak J; Department of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Gronostajowa 7, 30-387 Krakow, Poland. Electronic address: .
Stępniewski J; Department of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Gronostajowa 7, 30-387 Krakow, Poland. Electronic address: .
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Źródło :
Stem cell research [Stem Cell Res] 2021 Oct; Vol. 56, pp. 102529. Date of Electronic Publication: 2021 Sep 02.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Induced Pluripotent Stem Cells*/metabolism
Muscular Dystrophies*/genetics
CRISPR-Cas Systems/genetics ; Exons/genetics ; Humans ; Laminin/genetics ; Laminin/metabolism ; Muscle Fibers, Skeletal/metabolism
Czasopismo naukowe
Tytuł :
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.
Autorzy :
Ten Dam L; Department of Neurology, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands.
de Visser M; Department of Neurology, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands.
Ginjaar IB; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
van Duyvenvoorde HA; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
van Koningsbruggen S; Department of Clinical Genetics, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
van der Kooi AJ; Department of Neurology, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands.
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Źródło :
Journal of neuromuscular diseases [J Neuromuscul Dis] 2021; Vol. 8 (2), pp. 261-272.
Typ publikacji :
Journal Article
MeSH Terms :
Muscular Dystrophies, Limb-Girdle/*genetics
Adolescent ; Adult ; Calcium-Binding Proteins ; Calpain ; Cation Transport Proteins ; Child ; Dysferlin ; Female ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Middle Aged ; Mitochondrial Membrane Transport Proteins ; Muscle Proteins ; Muscular Dystrophies/genetics ; Mutation ; Netherlands ; Phenotype ; Sarcoglycanopathies/genetics ; Sequence Analysis, DNA ; Transcription Factors ; Tripartite Motif Proteins ; Ubiquitin-Protein Ligases ; Whole Exome Sequencing ; Young Adult
Czasopismo naukowe
Tytuł :
Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort.
Autorzy :
Tan D; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Ge L; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Fan Y; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Chang X; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Wang S; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Wei C; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Ding J; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Liu A; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Wang S; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Li X; Department of Statistics, Peking University First Hospital, Beijing, 100034, China.
Gao K; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Yang H; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Que C; Department of Respiratory and Critical Care Medicine, Peking University First Hospital, Beijing, 100034, China.
Huang Z; Department of Rehabilitation Medicine, Peking University First Hospital, Beijing, 100034, China.
Li C; Department of Orthopedic/Spine Surgery, Peking University First Hospital, Beijing, 100034, China.
Zhu Y; Department of Radiology, Peking University First Hospital, Beijing, 100034, China.
Mao B; Department of Neurology, Wuhan Children's Hospital, Wuhan, 430015, Hubei Province, China.
Jin B; Department of Neurology, Children's Hospital of Nanjing Medical University, Nanjing, 210008, Jiangsu Province, China.
Hua Y; Department of Pediatrics, Wuxi Children's Hospital, Wuxi, 214000, Jiangsu Province, China.
Zhang X; Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan Province, China.
Zhang B; Department of Neurology, Children's Hospital of Soochow University, Suzhou, 215025, Jiangsu Province, China.
Zhu W; Department of Neurology, Huashan Hospital, Fudan University, Shanghai, 200040, China.
Zhang C; Department of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510080, Guangdong Province, China.
Wang Y; Department of Neurology, School of Medicine, Chengdu Women's & Children's Central Hospital, University of Electronic Science and Technology of China, Chengdu, 610091, Sichuan Province, China.
Yuan Y; Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
Jiang Y; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Rutkowski A; Kaiser Permanente SCPMG Cure CMD, Los Angeles, CA, USA.
Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Wu X; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Xiong H; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China. .
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Jul 19; Vol. 16 (1), pp. 319. Date of Electronic Publication: 2021 Jul 19.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Muscular Dystrophies*/genetics
Muscular Dystrophies, Limb-Girdle*
Child ; Child, Preschool ; China ; DNA Copy Number Variations ; Humans ; Infant ; Laminin/genetics
Czasopismo naukowe
Tytuł :
Role of Immunoglobulins in Muscular Dystrophies and Inflammatory Myopathies.
Autorzy :
Farini A; Stem Cell Laboratory, Department of Pathophysiology and Transplantation, University of Milan, Dino Ferrari Center, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
Villa C; Stem Cell Laboratory, Department of Pathophysiology and Transplantation, University of Milan, Dino Ferrari Center, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
Tripodi L; Stem Cell Laboratory, Department of Pathophysiology and Transplantation, University of Milan, Dino Ferrari Center, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
Legato M; Stem Cell Laboratory, Department of Pathophysiology and Transplantation, University of Milan, Dino Ferrari Center, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
Torrente Y; Stem Cell Laboratory, Department of Pathophysiology and Transplantation, University of Milan, Dino Ferrari Center, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
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Źródło :
Frontiers in immunology [Front Immunol] 2021 Jul 14; Vol. 12, pp. 666879. Date of Electronic Publication: 2021 Jul 14 (Print Publication: 2021).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Autoimmunity*
Immunoglobulins/*immunology
Muscular Dystrophies/*immunology
Myositis/*immunology
Autoantibodies/immunology ; Humans ; Immunoglobulins/metabolism ; Muscle Proteins/metabolism ; Muscular Dystrophies/metabolism ; Muscular Dystrophies/pathology ; Myositis/metabolism ; Myositis/pathology
Czasopismo naukowe
Tytuł :
Identifying Plectin Isoform Functions through Animal Models.
Autorzy :
Castañón MJ; Max Perutz Laboratories, Department of Biochemistry and Cell Biology, University of Vienna, 1030 Vienna, Austria.
Wiche G; Max Perutz Laboratories, Department of Biochemistry and Cell Biology, University of Vienna, 1030 Vienna, Austria.
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Źródło :
Cells [Cells] 2021 Sep 17; Vol. 10 (9). Date of Electronic Publication: 2021 Sep 17.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Disease Models, Animal*
Mutation*
Epidermolysis Bullosa Simplex/*pathology
Muscular Dystrophies, Limb-Girdle/*pathology
Plectin/*metabolism
Animals ; Epidermolysis Bullosa Simplex/etiology ; Epidermolysis Bullosa Simplex/metabolism ; Humans ; Muscular Dystrophies, Limb-Girdle/etiology ; Muscular Dystrophies, Limb-Girdle/metabolism ; Plectin/genetics ; Protein Isoforms
SCR Disease Name :
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Czasopismo naukowe
Tytuł :
Anti-latent TGFβ binding protein 4 antibody improves muscle function and reduces muscle fibrosis in muscular dystrophy.
Autorzy :
Demonbreun AR; Center for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA.; Department of Pharmacology, Northwestern University, Chicago, IL 60611, USA.
Fallon KS; Center for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA.
Oosterbaan CC; Center for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA.
Vaught LA; Center for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA.
Reiser NL; Center for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA.
Bogdanovic E; Center for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA.
Velez MP; Center for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA.
Salamone IM; Center for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA.
Page PGT; Center for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA.
Hadhazy M; Center for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA.
Quattrocelli M; Center for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA.; Department of Pharmacology, Northwestern University, Chicago, IL 60611, USA.
Barefield DY; Center for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA.
Wood LD; Solid Biosciences, Cambridge, MA 02139, USA.
Gonzalez JP; Solid Biosciences, Cambridge, MA 02139, USA.
Morris C; Solid Biosciences, Cambridge, MA 02139, USA.
McNally EM; Center for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA.
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Źródło :
Science translational medicine [Sci Transl Med] 2021 Sep 08; Vol. 13 (610), pp. eabf0376. Date of Electronic Publication: 2021 Sep 08.
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.
MeSH Terms :
Muscular Dystrophies*/pathology
Muscular Dystrophies*/therapy
Muscular Dystrophy, Duchenne*/pathology
Carrier Proteins ; Fibrosis ; Humans ; Latent TGF-beta Binding Proteins/metabolism ; Muscle, Skeletal/metabolism ; Muscles/metabolism ; Transforming Growth Factor beta/metabolism
Czasopismo naukowe
Tytuł :
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.
Autorzy :
Bouman K; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands. .; Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands. .
Groothuis JT; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.
Doorduin J; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.
van Alfen N; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.
Udink Ten Cate FEA; Department of Pediatric cardiology, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands.
van den Heuvel FMA; Department of Cardiology, Radboud university medical center, Nijmegen, The Netherlands.
Nijveldt R; Department of Cardiology, Radboud university medical center, Nijmegen, The Netherlands.
van Tilburg WCM; Department of Radiology, Radboud university medical center, Nijmegen, The Netherlands.
Buckens SCFM; Department of Radiology, Radboud university medical center, Nijmegen, The Netherlands.
Dittrich ATM; Department of Pediatrics, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands.
Draaisma JMT; Department of Pediatrics, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands.
Janssen MCH; Department of Internal Medicine, Radboud university medical center, Nijmegen, The Netherlands.
Kamsteeg EJ; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
van Kleef ESB; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.
Koene S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Smeitink JAM; Khondrion BV, Nijmegen, The Netherlands.
Küsters B; Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands.
van Tienen FHJ; Department of Toxicogenomics, Maastricht University, Maastricht, The Netherlands.
Smeets HJM; Department of Toxicogenomics, Maastricht University, Maastricht, The Netherlands.; School for Mental Health and Neurosciences (MHeNS), Maastricht University, Maastricht, the Netherlands.; School for Developmental Biology and Oncology (GROW), Maastricht University, Maastricht, The Netherlands.
van Engelen BGM; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.
Erasmus CE; Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands.
Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.
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Źródło :
BMC neurology [BMC Neurol] 2021 Aug 12; Vol. 21 (1), pp. 313. Date of Electronic Publication: 2021 Aug 12.
Typ publikacji :
Journal Article
MeSH Terms :
Muscular Dystrophies*/genetics
Muscular Dystrophies*/therapy
Adult ; Child ; Humans ; Laminin/genetics ; Magnetic Resonance Imaging ; Outcome Assessment, Health Care ; Prospective Studies
Czasopismo naukowe
Tytuł :
How Inflammation Pathways Contribute to Cell Death in Neuro-Muscular Disorders.
Autorzy :
Salucci S; Department of Biomolecular Sciences (DiSB), Urbino University Carlo Bo, 61029 Urbino, Italy.; Cellular Signalling Laboratory, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, 40126 Bologna, Italy.
Bartoletti Stella A; Department of Diagnostic Experimental and Specialty Medicine (DIMES), University of Bologna, 40126 Bologna, Italy.
Battistelli M; Department of Biomolecular Sciences (DiSB), Urbino University Carlo Bo, 61029 Urbino, Italy.
Burattini S; Department of Biomolecular Sciences (DiSB), Urbino University Carlo Bo, 61029 Urbino, Italy.
Bavelloni A; Laboratory of Experimental Oncology, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Cocco LI; Cellular Signalling Laboratory, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, 40126 Bologna, Italy.
Gobbi P; Department of Biomolecular Sciences (DiSB), Urbino University Carlo Bo, 61029 Urbino, Italy.
Faenza I; Cellular Signalling Laboratory, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, 40126 Bologna, Italy.
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Źródło :
Biomolecules [Biomolecules] 2021 Jul 28; Vol. 11 (8). Date of Electronic Publication: 2021 Jul 28.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Apoptosis/*genetics
Hereditary Sensory and Motor Neuropathy/*metabolism
Motor Neuron Disease/*metabolism
Muscular Diseases/*metabolism
Muscular Dystrophies/*metabolism
Neuromuscular Junction Diseases/*metabolism
Astrocytes/metabolism ; Astrocytes/pathology ; Autophagy/genetics ; Cytokines/genetics ; Cytokines/metabolism ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Gene Expression Regulation ; Hereditary Sensory and Motor Neuropathy/genetics ; Hereditary Sensory and Motor Neuropathy/pathology ; Humans ; Inflammation ; Microglia/metabolism ; Microglia/pathology ; Mitochondria/metabolism ; Mitochondria/pathology ; Motor Neuron Disease/genetics ; Motor Neuron Disease/pathology ; Muscular Diseases/genetics ; Muscular Diseases/pathology ; Muscular Dystrophies/genetics ; Muscular Dystrophies/pathology ; NF-kappa B/genetics ; NF-kappa B/metabolism ; Neuromuscular Junction Diseases/genetics ; Neuromuscular Junction Diseases/pathology ; Neurons/metabolism ; Neurons/pathology ; Signal Transduction
Czasopismo naukowe
Tytuł :
Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.
Autorzy :
Yun U; Department of Neurology, Bucheon Sejong Hospital, Bucheon, Korea.
Lee SA; Department of Neurology, Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
Choi WA; Department of Rehabilitation, Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
Kang SW; Department of Rehabilitation, Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
Seo GH; Division of Medical Genetics, 3billion, Inc. Seoul, Republic of Korea.
Lee JH; Department of Neurology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Park G; Biostatistics Collaboration Unit, Yonsei University College of Medicine, Seoul, Republic of Korea.
Lee S; Biostatistics Collaboration Unit, Yonsei University College of Medicine, Seoul, Republic of Korea.
Choi YC; Department of Neurology, Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
Park HJ; Department of Neurology, Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
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Źródło :
PloS one [PLoS One] 2021 Jul 23; Vol. 16 (7), pp. e0255011. Date of Electronic Publication: 2021 Jul 23 (Print Publication: 2021).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Phenotype*
Muscular Dystrophies/*genetics
Adolescent ; Child ; Female ; Gene Frequency ; Humans ; Male ; Muscle, Skeletal/physiopathology ; Muscular Dystrophies/classification ; Muscular Dystrophies/pathology ; Republic of Korea ; Young Adult
Czasopismo naukowe
Tytuł :
Mitotherapy: Unraveling a Promising Treatment for Disorders of the Central Nervous System and Other Systemic Conditions.
Autorzy :
Nascimento-Dos-Santos G; Instituto de Biofísica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro 21941-901, Brazil.
de-Souza-Ferreira E; Instituto de Bioquímica Médica Leopoldo de Meis, Universidade Federal do Rio de Janeiro, Rio de Janeiro 21941-901, Brazil.
Linden R; Instituto de Biofísica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro 21941-901, Brazil.
Galina A; Instituto de Bioquímica Médica Leopoldo de Meis, Universidade Federal do Rio de Janeiro, Rio de Janeiro 21941-901, Brazil.
Petrs-Silva H; Instituto de Biofísica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro 21941-901, Brazil.
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Źródło :
Cells [Cells] 2021 Jul 20; Vol. 10 (7). Date of Electronic Publication: 2021 Jul 20.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Alzheimer Disease/*therapy
Depression/*therapy
Glaucoma/*therapy
Hepatitis/*therapy
Ischemia/*therapy
Mitochondria/*transplantation
Muscular Dystrophies/*therapy
Neoplasms/*therapy
Schizophrenia/*therapy
Adenosine Triphosphate/biosynthesis ; Alzheimer Disease/genetics ; Alzheimer Disease/metabolism ; Alzheimer Disease/pathology ; Animals ; Central Nervous System/metabolism ; Central Nervous System/pathology ; Depression/genetics ; Depression/metabolism ; Depression/pathology ; Disease Models, Animal ; Glaucoma/genetics ; Glaucoma/metabolism ; Glaucoma/pathology ; Hepatitis/genetics ; Hepatitis/metabolism ; Hepatitis/pathology ; Humans ; Ischemia/genetics ; Ischemia/metabolism ; Ischemia/pathology ; Liver/metabolism ; Liver/pathology ; Mitochondria/genetics ; Mitochondria/metabolism ; Muscular Dystrophies/genetics ; Muscular Dystrophies/metabolism ; Muscular Dystrophies/pathology ; Neoplasms/genetics ; Neoplasms/metabolism ; Neoplasms/pathology ; Oxidative Phosphorylation ; Schizophrenia/genetics ; Schizophrenia/metabolism ; Schizophrenia/pathology ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Hypoxia and Hypoxia-Inducible Factor Signaling in Muscular Dystrophies: Cause and Consequences.
Autorzy :
Nguyen TH; Laboratory of Respiratory Physiology, Pathophysiology and Rehabilitation, Research Institute for Health Sciences and Technology, University of Mons, 7000 Mons, Belgium.
Conotte S; Laboratory of Respiratory Physiology, Pathophysiology and Rehabilitation, Research Institute for Health Sciences and Technology, University of Mons, 7000 Mons, Belgium.
Belayew A; Laboratory of Respiratory Physiology, Pathophysiology and Rehabilitation, Research Institute for Health Sciences and Technology, University of Mons, 7000 Mons, Belgium.
Declèves AE; Department of Metabolic and Molecular Biochemistry, Research Institute for Health Sciences and Technology, University of Mons, 7000 Mons, Belgium.
Legrand A; Laboratory of Respiratory Physiology, Pathophysiology and Rehabilitation, Research Institute for Health Sciences and Technology, University of Mons, 7000 Mons, Belgium.
Tassin A; Laboratory of Respiratory Physiology, Pathophysiology and Rehabilitation, Research Institute for Health Sciences and Technology, University of Mons, 7000 Mons, Belgium.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Jul 05; Vol. 22 (13). Date of Electronic Publication: 2021 Jul 05.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Hypoxia/*etiology
Hypoxia/*metabolism
Hypoxia-Inducible Factor 1, alpha Subunit/*metabolism
Muscular Dystrophies/*complications
Muscular Dystrophies/*metabolism
Animals ; Humans ; Hypoxia-Inducible Factor 1, alpha Subunit/drug effects ; Ischemia/etiology ; Models, Biological ; Muscle Development ; Muscle, Skeletal/blood supply ; Muscle, Skeletal/metabolism ; Muscular Dystrophies/genetics ; Oxidative Stress ; Regeneration ; Signal Transduction
Czasopismo naukowe
Tytuł :
Muscle-Related Plectinopathies.
Autorzy :
Zrelski MM; Center for Anatomy and Cell Biology, Neuromuscular Research Department, Medical University of Vienna, 1090 Vienna, Austria.
Kustermann M; Center for Anatomy and Cell Biology, Neuromuscular Research Department, Medical University of Vienna, 1090 Vienna, Austria.
Winter L; Center for Anatomy and Cell Biology, Neuromuscular Research Department, Medical University of Vienna, 1090 Vienna, Austria.
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Źródło :
Cells [Cells] 2021 Sep 19; Vol. 10 (9). Date of Electronic Publication: 2021 Sep 19.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Epidermolysis Bullosa Simplex/*pathology
Muscle, Skeletal/*pathology
Muscular Dystrophies/*pathology
Plectin/*metabolism
Animals ; Epidermolysis Bullosa Simplex/metabolism ; Humans ; Muscle, Skeletal/metabolism ; Muscular Dystrophies/metabolism
Czasopismo naukowe

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