Results 131 to 140 of about 2,996 (188)

Molecular characterisation of congenital myasthenic syndromes in Southern Brazil

Objective To perform genetic testing of patients with congenital myasthenic syndromes (CMS) from the Southern Brazilian state of Parana.Patients and methods Twenty-five CMS patients from 18 independent families were included in the study. Known CMS genes
Guergueltcheva V, Huebner A, Lochmuller H, Abicht A, Gervini B, Kay CK, Lorenzoni PJ, Mihaylova V, Scola RH, Werneck LC, von der Hagen M, Stucka R, Muller JS   +12 more
core  

Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up. [PDF]

Neuromuscul Disord, 2018
Durmus H, Shen XM, Serdaroglu-Oflazer P, Kara B, Parman-Gulsen Y, Ozdemir C, Brengman J, Deymeer F, Engel AG.   +8 more
europepmc   +1 more source

Muscle magnetic resonance imaging in congenital myasthenic syndromes. [PDF]

Muscle Nerve, 2016
Finlayson S, Morrow JM, Rodriguez Cruz PM, Sinclair CD, Fischmann A, Thornton JS, Knight S, Norbury R, White M, Al-Hajjar M, Carboni N, Jayawant S, Robb SA, Yousry TA, Beeson D, Palace J.   +15 more
europepmc   +1 more source

Congenital myasthenic syndrome [PDF]

, 2020
openaire   +2 more sources

Corrigendum to "Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up" [Neuromuscular Disorders 28/4 (2018) 315-322]. [PDF]

Neuromuscul Disord, 2018
Durmus H, Shen XM, Serdaroglu-Oflazer P, Kara B, Parman-Gulsen Y, Ozdemir C, Brengman J, Deymeer F, Engel AG.   +8 more
europepmc   +1 more source

Animal Models of the Neuromuscular Junction, Vitally Informative for Understanding Function and the Molecular Mechanisms of Congenital Myasthenic Syndromes. [PDF]

Int J Mol Sci, 2018
Webster RG.
europepmc   +1 more source

Congenital myasthenic syndromes and myasthenia gravis are challenging diagnoses in neurological practice

Arquivos de Neuro-Psiquiatria
Anamarli Nucci
doaj   +1 more source

Intragenic <i>DOK7</i> deletion detected by whole-genome sequencing in congenital myasthenic syndromes. [PDF]

Neurol Genet, 2017
Azuma Y, Töpf A, Evangelista T, Lorenzoni PJ, Roos A, Viana P, Inagaki H, Kurahashi H, Lochmüller H.   +8 more
europepmc   +1 more source

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. [PDF]

Lancet Neurol, 2015
Engel AG, Shen XM, Selcen D, Sine SM.
europepmc   +1 more source

Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness. [PDF]

J Neuromuscul Dis, 2015
Evangelista T, Hanna M, Lochmüller H.
europepmc   +1 more source