Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene-Reference-Cited by-同舟云学术

Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene

Published:2013-05 Issue:5 Volume:23 Page:391-398
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Dlamini Nomazulu,Josifova Dragana J.,Paine Simon M.L.,Wraige Elizabeth,Pitt Matthew,Murphy Amanda J.,King Andrew,Buk Stefan,Smith Frances,Abbs Stephen,Sewry Caroline,Jacques Thomas S.,Jungbluth Heinz

Publisher

Elsevier BV

Subject

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

Reference34 articles.

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4. Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy;Ramser;Am J Hum Genet,2008

5. A family with severe X-linked arthrogryposis;Hennekam;Eur J Pediatr,1991

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