• A novel <em>DOK7</em> mutation causing congenital myasthenic syndrome with limb-girdle weakness: case series of three family members
• A novel DOK7 mutation causing congenital myasthenic syndrome with limb-girdle weakness: case series of three family members
• An autosomal-recessive congenital myasthenic syndrome with tubular aggregates in a Libyan family
• Autosomal recessive limb girdle myasthenia in two sisters
• Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome
• Congenital myasthenic syndrome: Ten years clinical experience from a quaternary care south-Indian hospital
• Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy
• Congenital myasthenic syndromes in two kinships with end-plate acetylcholine receptor and utrophin deficiency
• Distal weakness with respiratory insufficiency caused by the m.8344A &gt; G "MERRF" mutation
• DOK7 mutations presenting as a proximal myopathy in French Canadians
• Efficacy of terbutaline in familial limb girdle myasthenia: Case report and review of literature
• Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia
• Familial limb-girdle myasthenia
• Familial limb-girdle myasthenia with tubular aggregates
• Familial myasthenia gravis: a study of three families
• Four Individuals with a Homozygous Mutation in Exon 1f of the <em>PLEC</em> Gene and Associated Myasthenic Features
• Genetically determined neuromuscular disorders of some Roma families living in Hungary
• Germline mutation in DOK7 associated with fetal akinesia deformation sequence
• GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing
• Hereditary neuromuscular diseases in paediatrics. Our experience over the last 14 years
• Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
• Juvenile limb-girdle myasthenia gravis
• Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations
• Limb girdle myasthenia: a study of familial and sporadic cases
• Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review
• Limb-girdle myasthenia: clinical, electrophysiological and morphological features in familial and autoimmune cases
• Muscle weakness and neuromuscular junctions in aging and disease
• Myasthenia gravis in children: a longitudinal study
• Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction
• Novel compound heterozygous GFPT1 mutations in a family with limb-girdle myasthenia with tubular aggregates
• Phenotype of a limb-girdle congenital myasthenic syndrome patient carrying a GFPT1 mutation
• Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes
• Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy
• Screening for hereditary neuromuscular disorders with molecular genetic methods in the Roma population of Hungary