Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature-Reference-Cited by-同舟云学术

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

Published:2022-10 Issue:10 Volume:32 Page:806-810
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Karimzadeh Parvaneh,Najmabadi Hossein,Lochmuller Hanns,Babaee Marzieh^ORCID,Dehdahsi Shima,Miryounesi Mohammad,Amirsalari Susan,Rayegani Seyed Mansoor,Tonekaboni Seyed Hassan

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference21 articles.

1. Spinal muscular atrophy summary GeneReview scope;Prior,2020

2. Diseases of the motor unit;Menkes,2000

3. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review;Verhaart;Orphanet J Rare Dis,2017

4. Spinal muscular atrophy associated with progressive myoclonus epilepsy;Topaloglu;Epileptic Disord,2016

5. Acid ceramidase deficiency: farber disease and SMA-PME;Yu;Orphanet J Rare Dis,2018

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