Therapeutic strategies for congenital myasthenic syndromes

Congenital myasthenic syndromes

(2016) David Beeson   CURRENT OPINION IN NEUROLOGY

Clinical features of the myasthenic syndrome arising from mutations in GMPPB

(2016) Pedro M Rodríguez Cruz et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Antidepressant Use Late in Pregnancy and Risk of Persistent Pulmonary Hypertension of the Newborn

(2015) Krista F. Huybrechts et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine

(2015) Ted M. Burns et al.   MUSCLE & NERVE

Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes

(2015) Pedro M. Rodríguez Cruz et al.   NEUROLOGY

Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia

(2015) Duygu Selcen et al.   JAMA Neurology

Congenital myasthenic syndromes due to mutations inALG2andALG14

(2013) Judith Cossins et al.   BRAIN

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK

(2013) Constanze Gallenmüller et al.   NEUROMUSCULAR DISORDERS

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

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

Pregnancy in congenital myasthenic syndrome

(2012) L. Servais et al.   JOURNAL OF NEUROLOGY

Vertebrate protein glycosylation: diversity, synthesis and function

(2012) Kelley W. Moremen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations

(2012) Georgina Burke et al.   NEUROMUSCULAR DISORDERS

Neuromuscular Junction Acetylcholinesterase Deficiency Responsive to Albuterol

(2012) Sophelia H.S. Chan et al.   PEDIATRIC NEUROLOGY

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

Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia

(2011) Teerin Liewluck et al.   MUSCLE & NERVE

Clinical features in a series of fast channel congenital myasthenia syndrome

(2011) Jacqueline Palace et al.   NEUROMUSCULAR DISORDERS

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK–Dok-7 interaction

(2010) Ricardo A. Maselli et al.   HUMAN MOLECULAR GENETICS

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7

(2010) D. Lashley et al.   NEUROLOGY

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

(2009) Caroline Huzé et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations

(2009) U. Schara et al.   NEUROMUSCULAR DISORDERS

The congenital myasthenic syndromes

(2008) Jackie Palace et al.   JOURNAL OF NEUROIMMUNOLOGY

Transient neonatal Lambert-Eaton syndrome

(2008) U. Reuner et al.   JOURNAL OF NEUROLOGY

Therapeutic strategies in congenital myasthenic syndromes

(2008) Ulrike Schara et al.   Neurotherapeutics