Insights into genotype-phenotype correlations in spinal muscular atrophy: A retrospective study of 103 patients-Reference-Cited by-同舟云学术

Insights into genotype-phenotype correlations in spinal muscular atrophy: A retrospective study of 103 patients

Published:2010-12-17 Issue:1 Volume:43 Page:26-30
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Petit Florence,Cuisset Jean-Marie,Rouaix-Emery Nathalie,Cancés Claude,Sablonnière Bernard,Bieth Eric,Moerman Alexandre,Sukno Sylvie,Hardy Noah,Holder-Espinasse Muriel,Manouvrier-Hanu Sylvie,Vallée Louis

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.21832/fullpdf

Reference35 articles.

1. Identification and characterization of a spinal muscular atrophy-determining gene;Lefebvre;Cell,1995

2. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3;Brzustowicz;Nature,1990

3. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy;Gilliam;Nature,1990

4. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q;Melki;Nature,1990

5. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN;Lorson;Hum Mol Genet,2000

Cited by 23 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Association among biomarkers, phenotypes, and motor milestones in Chinese patients with 5q spinal muscular atrophy types 1–3;Frontiers in Neurology;2024-09-02

2. Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3;Journal of Neuromuscular Diseases;2024-04-30

3. The impact of three SMN2 gene copies on clinical characteristics and effect of disease-modifying treatment in patients with spinal muscular atrophy: a systematic literature review;Frontiers in Neurology;2024-02-29

4. Assessment of the upper limb function, strength, and mobility in treatment‐naive children with spinal muscular atrophy Types 2 and 3;Muscle & Nerve;2024-01-18

5. 2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants;Journal of Clinical Medicine;2023-02-28