Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0

Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0–4

Published:2017-01-20 Issue:4 Volume:88 Page:365-367
ISSN:0022-3050
Container-title:Journal of Neurology, Neurosurgery & Psychiatry
language:en
Short-container-title:J Neurol Neurosurg Psychiatry

Author:

Wadman Renske I,Stam Marloes,Gijzen Marleen,Lemmink Henny H,Snoeck Irina N,Wijngaarde Camiel A,Braun Kees P J,Schoenmakers Marja A G C,van den Berg Leonard H,Dooijes Dennis,van der Pol W-Ludo

Publisher

BMJ

Subject

Psychiatry and Mental health,Neurology (clinical),Surgery

Reference5 articles.

1. Childhood spinal muscular atrophy: controversies and challenges;Mercuri;Lancet Neurol,2012

2. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications;Zerres;Arch Neurol,1995

3. Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study;Crawford;PLoS ONE,2012

4. Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling;Rudnik-Schöneborn;Clin Genet,2009

5. Observational study of spinal muscular atrophy type I and implications for clinical trials;Finkel;Neurology,2014

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