Results 131 to 140 of about 8,171 (145)

Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature

Neuromuscular Disorders, 2022
Marzieh Babaee, Hossein Najmabadi, Parvaneh Karimzadeh   +2 more
exaly  

A De Novo SEMA6B Variant in a Chinese Patient with Progressive Myoclonic Epilepsy-11 and Review of the Literature

Journal of Molecular Neuroscience, 2021
Xuqin Chen
exaly  

Progressive Myoclonic Epilepsy’-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation

Epilepsy and Behavior Reports, 2021
Shruti Agrawal, Karan Desai
exaly  

A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review

Frontiers in Genetics, 2023
Xinxiang Yan, Xingyan Yang
exaly  

Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK): a cause of progressive myoclonic epilepsy

Acta Neurologica Belgica, 2021
Rohan Mahale, Hansashree Padmanabha, Gautham Arunachal   +2 more
exaly  

Progressive Myoclonic Epilepsy Type 8 Due to CERS1 Deficiency: A Novel Mutation with Prominent Ataxia

Movement Disorders Clinical Practice, 2018
Pedroso Jl, Fernando Kok
exaly  

Can changes in cortical excitability distinguish progressive from juvenile myoclonic epilepsy?

Epilepsia, 2010
Graeme Jackson, Samuel Berkovic
exaly  

Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: Phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1

Neuromuscular Disorders, 2015
José Manuel Pardal-Fernández, José Serratosa, Beatriz G Giraldéz   +2 more
exaly  

Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation

Seizure: the Journal of the British Epilepsy Association, 2016
Fatih Tepgeç, Emel Oguz Akarsu, Betul Baykan   +2 more
exaly  

Zonisamide for the treatment of myoclonic seizures in progressive myoclonic epilepsy: an open‐label study

Epileptic Disorders, 2008
Jérôme V Murphy
exaly