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

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

(2011) Jan Senderek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome

(2011) Amina Chaouch et al.   JOURNAL OF NEUROLOGY

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

(2011) Velina Guergueltcheva et al.   JOURNAL OF NEUROLOGY

Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients

(2011) Espen Homleid Alseth et al.   MUSCLE & NERVE

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

Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing

(2010) K. Gaudon et al.   JOURNAL OF MEDICAL GENETICS

Molecular characterisation of congenital myasthenic syndromes in Southern Brazil

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

DOK7 mutations presenting as a proximal myopathy in French Canadians

(2010) Myriam Srour et al.   NEUROMUSCULAR DISORDERS

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

(2010) P. Munot et al.   NEUROMUSCULAR DISORDERS

Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations

(2009) Ulrike Schara et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

What Have We Learned from the Congenital Myasthenic Syndromes

(2009) Andrew G. Engel et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

REFINEMENT OF THE CLINICAL PHENOTYPE IN MUSK-RELATED CONGENITAL MYASTHENIC SYNDROMES

(2009) V. Mihaylova et al.   NEUROLOGY

Congenital Myasthenic Syndromes and the Formation of the Neuromuscular Junction

(2008) David Beeson et al.   Annals of the New York Academy of Sciences

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

(2008) Violeta Mihaylova et al.   BRAIN

The congenital myasthenic syndromes

(2008) Jackie Palace et al.   JOURNAL OF NEUROIMMUNOLOGY

Congenital Myasthenic Syndromes in childhood: Diagnostic and management challenges

(2008) M. Kinali et al.   JOURNAL OF NEUROIMMUNOLOGY

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa

(2008) P. Richard et al.   NEUROLOGY

Therapeutic strategies in congenital myasthenic syndromes

(2008) Ulrike Schara et al.   Neurotherapeutics