Cargando…

Membrane Repair Deficit in Facioscapulohumeral Muscular Dystrophy

Deficits in plasma membrane repair have been identified in dysferlinopathy and Duchenne Muscular Dystrophy, and contribute to progressive myopathy. Although Facioscapulohumeral Muscular Dystrophy (FSHD) shares clinicopathological features with these muscular dystrophies, it is unknown if FSHD is cha...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bittel, Adam J., Sreetama, Sen Chandra, Bittel, Daniel C., Horn, Adam, Novak, James S., Yokota, Toshifumi, Zhang, Aiping, Maruyama, Rika, Rowel Q. Lim, Kenji, Jaiswal, Jyoti K., Chen, Yi-Wen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7432481/ https://www.ncbi.nlm.nih.gov/pubmed/32759720 http://dx.doi.org/10.3390/ijms21155575

Ejemplares similares

Genetic Approaches for the Treatment of Facioscapulohumeral Muscular Dystrophy
por: Lim, Kenji Rowel Q., et al.
Publicado: (2021)

DUX4 Signalling in the Pathogenesis of Facioscapulohumeral Muscular Dystrophy
por: Lim, Kenji Rowel Q., et al.
Publicado: (2020)

Eteplirsen in the treatment of Duchenne muscular dystrophy
por: Lim, Kenji Rowel Q, et al.
Publicado: (2017)

Facioscapulohumeral Muscular Dystrophy is Associated With Altered Myoblast Proteome Dynamics
por: Nishimura, Yusuke, et al.
Publicado: (2023)

Secreted acid sphingomyelinase as a potential gene therapy for limb girdle muscular dystrophy 2B
por: Bittel, Daniel C., et al.
Publicado: (2022)

Applications of CRISPR/Cas9 for the Treatment of Duchenne Muscular Dystrophy
por: Lim, Kenji Rowel Q., et al.
Publicado: (2018)

CRISPR-Generated Animal Models of Duchenne Muscular Dystrophy
por: Lim, Kenji Rowel Q., et al.
Publicado: (2020)

Multiple Exon Skipping in the Duchenne Muscular Dystrophy Hot Spots: Prospects and Challenges
por: Echigoya, Yusuke, et al.
Publicado: (2018)

Genotype–Phenotype Correlations in Duchenne and Becker Muscular Dystrophy Patients from the Canadian Neuromuscular Disease Registry
por: Lim, Kenji Rowel Q., et al.
Publicado: (2020)

Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy
por: Nguyen, Quynh, et al.
Publicado: (2019)

Membrane Stabilization by Modified Steroid Offers a Potential Therapy for Muscular Dystrophy Due to Dysferlin Deficit
por: Sreetama, Sen Chandra, et al.
Publicado: (2018)

Treatment of facioscapulohumeral muscular dystrophy with Denosumab
por: Lefkowitz, Stanley S., et al.
Publicado: (2012)

Sarcopenic Obesity in Facioscapulohumeral Muscular Dystrophy
por: Vera, Kathryn, et al.
Publicado: (2020)

Characterizing the face in facioscapulohumeral muscular dystrophy
por: Loonen, T. G. J., et al.
Publicado: (2020)

The socioeconomic burden of facioscapulohumeral muscular dystrophy
por: Blokhuis, Anna M., et al.
Publicado: (2021)

Baroreflex sensitivity in facioscapulohumeral muscular dystrophy
por: Anselmo, Miguel, et al.
Publicado: (2022)

Elderly Onset of Weakness in Facioscapulohumeral Muscular Dystrophy
por: Fee, Dominic B.
Publicado: (2012)

Upper Girdle Imaging in Facioscapulohumeral Muscular Dystrophy
por: Tasca, Giorgio, et al.
Publicado: (2014)

Facioscapulohumeral muscular dystrophy: Are telomeres the end of the story?
por: Stadler, Guido, et al.
Publicado: (2013)

Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy
por: Greco, Anna, et al.
Publicado: (2020)

Cellular and animal models for facioscapulohumeral muscular dystrophy
por: DeSimone, Alec M., et al.
Publicado: (2020)

Cognitive profile of patients with facioscapulohumeral muscular dystrophy
por: dos Santos, Vanessa Brzoskowski, et al.
Publicado: (2021)

Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD)
por: Ducharme-Smith, Allison, et al.
Publicado: (2021)

Corrigendum: Sarcopenic Obesity in Facioscapulohumeral Muscular Dystrophy
por: Vera, Kathryn, et al.
Publicado: (2022)

Gene Editing to Tackle Facioscapulohumeral Muscular Dystrophy
por: Mariot, Virginie, et al.
Publicado: (2022)

Nutritional Status of Patients with Facioscapulohumeral Muscular Dystrophy
por: Amzali, Sedda, et al.
Publicado: (2023)

Development of DG9 peptide-conjugated single- and multi-exon skipping therapies for the treatment of Duchenne muscular dystrophy
por: Lim, Kenji Rowel Q., et al.
Publicado: (2022)

Immunohistochemical Characterization of FacioscapulohumeralMuscular Dystrophy Muscle Biopsies
por: Statland, Jeffrey M., et al.
Publicado: (2015)

UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry
por: Wood, Libby, et al.
Publicado: (2014)

Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears
por: G, Ricci, et al.
Publicado: (2014)

The French National Registry of patients with Facioscapulohumeral muscular dystrophy
por: Guien, Céline, et al.
Publicado: (2018)

Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea
por: Lee, Jung Hwan, et al.
Publicado: (2021)

Outcome Measures in Facioscapulohumeral Muscular Dystrophy Clinical Trials
por: Ghasemi, Mehdi, et al.
Publicado: (2022)

Speech and swallowing characteristics in patients with facioscapulohumeral muscular dystrophy
por: dos SANTOS, Vanessa Brzoskowski, et al.
Publicado: (2022)

Clinical and Genetic Analysis of Korean Patients with Facioscapulohumeral Muscular Dystrophy
por: Ki, Chang-Seok, et al.
Publicado: (2008)

Effects of training and albuterol on pain and fatigue in facioscapulohumeral muscular dystrophy
por: van der Kooi, E. L., et al.
Publicado: (2007)

A rare case of facioscapulohumeral muscular dystrophy and myasthenia gravis
por: Asadollahi, Marjan, et al.
Publicado: (2012)

Effective Classification and Gene Expression Profiling for the Facioscapulohumeral Muscular Dystrophy
por: González-Navarro, Félix F., et al.
Publicado: (2013)

Facioscapulohumeral muscular dystrophy and respiratory failure; what about the diaphragm?
por: Hazenberg, A., et al.
Publicado: (2014)

Birdshot chorioretinopathy in a male patient with facioscapulohumeral muscular dystrophy
por: Papavasileiou, Evangelia, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_jdpj8k3vj2d9r3aaph6440ii4m