Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis

Congenital Myasthenic Syndrome From a Single Center: Phenotypic and Genotypic features

(2021) Devin E. Prior et al.   JOURNAL OF CHILD NEUROLOGY

Electrophysiological study of neuromuscular junction in congenital myasthenic syndromes, congenital myopathies, and chronic progressive external ophthalmoplegia

(2020) Vitor Marques Caldas et al.   NEUROMUSCULAR DISORDERS

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

(2019) Pedro M. Rodríguez Cruz et al.   BRAIN

Trouble at the junction: When myopathy and myasthenia overlap

(2019) Stefan Nicolau et al.   MUSCLE & NERVE

The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes

(2018) Pedro Rodríguez Cruz et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome

(2018) Eduardo de Paula Estephan et al.   JOURNAL OF NEUROLOGY

Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil

(2018) Eduardo de Paula Estephan et al.   NEUROMUSCULAR DISORDERS

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

(2017) Stéphanie Bauché et al.   JOURNAL OF NEUROLOGY

The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes

(2017) Angela Abicht et al.   NEUROPEDIATRICS

Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation

(2016) Osorio Abath Neto et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Muscle magnetic resonance imaging in congenital myasthenic syndromes

(2016) Sarah Finlayson et al.   MUSCLE & NERVE

Expanding the phenotype of GMPPB mutations

(2015) Macarena Cabrera-Serrano et al.   BRAIN

Mutations inGMPPBcause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

(2015) Katsiaryna Belaya et al.   BRAIN

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability

(2014) X.-M. Shen et al.   NEUROLOGY

RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine

(2014) M.A. Illingworth et al.   NEUROMUSCULAR DISORDERS

Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy

(2013) Elizabeth M. Gibbs et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Clinical features of congenital myasthenic syndrome due to mutations inDPAGT1

(2013) Sarah Finlayson et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

(2012) Katsiaryna Belaya et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification ofDPAGT1as a new gene in which mutations cause a congenital myasthenic syndrome

(2012) Katsiaryna Belaya et al.   Annals of the New York Academy of Sciences

Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients

(2012) Angela Abicht et al.   HUMAN MUTATION

Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia

(2011) Teerin Liewluck et al.   NEUROMUSCULAR DISORDERS

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

(2011) Stephanie A. Robb et al.   NEUROMUSCULAR DISORDERS

Molecular characterisation of congenital myasthenic syndromes in Southern Brazil

(2010) V. Mihaylova et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia

(2010) P. Munot et al.   NEUROMUSCULAR DISORDERS