Cargando…

Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions

Congenital myasthenic syndromes (CMS) form a heterogeneous group of rare diseases characterized by fatigable muscle weakness. They are genetically-inherited and caused by defective synaptic transmission at the cholinergic neuromuscular junction (NMJ). The number of genes known to cause CMS when muta...

Descripción completa

Detalles Bibliográficos
Autores principales:	Nicole, Sophie, Azuma, Yoshiteru, Bauché, Stéphanie, Eymard, Bruno, Lochmüller, Hanns, Slater, Clarke
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	IOS Press 2017
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701762/ https://www.ncbi.nlm.nih.gov/pubmed/29125502 http://dx.doi.org/10.3233/JND-170257

Ejemplares similares

Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease
por: O’Connor, Kaela, et al.
Publicado: (2023)

Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes
por: Azuma, Yoshiteru, et al.
Publicado: (2017)

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
por: Thompson, Rachel, et al.
Publicado: (2018)

Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness
por: Evangelista, Teresinha, et al.
Publicado: (2015)

Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome
por: McMacken, Grace M, et al.
Publicado: (2019)

Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome
por: Spendiff, Sally, et al.
Publicado: (2020)

Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons
por: Jacquier, Arnaud, et al.
Publicado: (2022)

Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome
por: Thompson, Rachel, et al.
Publicado: (2019)

Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models
por: Pugliese, Alessia, et al.
Publicado: (2023)

The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes
por: McMacken, Grace, et al.
Publicado: (2018)

The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes
por: Rodríguez Cruz, Pedro M., et al.
Publicado: (2018)

The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome
por: Liao, Xufeng, et al.
Publicado: (2023)

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies
por: Belaya, Katsiaryna, et al.
Publicado: (2015)

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome
por: O’Connor, Emily, et al.
Publicado: (2016)

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients
por: McMacken, Grace, et al.
Publicado: (2017)

Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study
por: Della Marina, Adela, et al.
Publicado: (2020)

Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment
por: McMacken, Grace, et al.
Publicado: (2023)

Congenital myasthenic syndrome in a cohort of patients with ‘double’ seronegative myasthenia gravis
por: Lorenzoni, Paulo José, et al.
Publicado: (2021)

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
por: Cossins, Judith, et al.
Publicado: (2013)

Clinicopathological‐genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre
por: Huang, Kun, et al.
Publicado: (2022)

Congenital myasthenic syndromes
por: Finsterer, Josef
Publicado: (2019)

New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes
por: Bauché, Stéphanie, et al.
Publicado: (2020)

The Structure of Human Neuromuscular Junctions: Some Unanswered Molecular Questions
por: Slater, Clarke R.
Publicado: (2017)

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK
por: Gallenmüller, Constanze, et al.
Publicado: (2014)

New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome
por: Masingue, Marion, et al.
Publicado: (2023)

Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1)
por: Chen, Qiushi, et al.
Publicado: (2015)

Animal Models of the Neuromuscular Junction, Vitally Informative for Understanding Function and the Molecular Mechanisms of Congenital Myasthenic Syndromes
por: Webster, Richard G.
Publicado: (2018)

Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome
por: Shields, Mallory C., et al.
Publicado: (2017)

SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome
por: Rahman, Mohammad Alinoor, et al.
Publicado: (2015)

Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases
por: Meunier, Justine, et al.
Publicado: (2021)

Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11
por: Kramer, J.J., et al.
Publicado: (2023)

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant
por: Balaraju, Sunitha, et al.
Publicado: (2019)

Editorial: Molecular Mechanisms Underlying Assembly and Maintenance of the Neuromuscular Junction
por: Herbst, Ruth, et al.
Publicado: (2021)

Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report
por: Kediha, Mohamed Islam, et al.
Publicado: (2022)

Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ
por: Barbeau, Susie, et al.
Publicado: (2023)

Muscle magnetic resonance imaging in congenital myasthenic syndromes
por: Finlayson, Sarah, et al.
Publicado: (2016)

Congenital Myasthenic Syndrome in a Mixed Breed Dog
por: Blakey, Theresa J., et al.
Publicado: (2017)

Congenital myasthenic syndrome in China: genetic and myopathological characterization
por: Zhao, Yawen, et al.
Publicado: (2021)

NMJ-related diseases beyond the congenital myasthenic syndromes
por: Navarro-Martínez, Alejandra, et al.
Publicado: (2023)

Neuromuscular Active Zone Structure and Function in Healthy and Lambert-Eaton Myasthenic Syndrome States
por: Ginebaugh, Scott P., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_c8b8c2ntnbplostj7r6iukupp2