An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy-Reference-Cited by-同舟云学术

An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy

Published:2009-10 Issue:4 Volume:40 Page:652-656
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Elsheikh Bakri,Prior Thomas,Zhang Xiaoli,Miller Robert,Kolb Stephen J.,Moore Dan,Bradley Walter,Barohn Richard,Bryan Wilson,Gelinas Deborah,Iannaccone Susan,Leshner Robert,Mendell Jerry R.,Mendoza Michelle,Russman Barry,Smith Stephen,King Wendy,Kissel John T.

Publisher

Wiley

Subject

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

Reference13 articles.

1. Quantitative analyses of SMN1 and SMN2 based on real-time LightCycler PCR: fast and highly reliable carrier testing and prediction of severity of SMA;Feldkotter;Am J Hum Genet,2002

2. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2;Mailman;Genet Med,2002

3. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNt and SMNc gene copy number;McAndrew;Am J Hum Genet,1997

4. A placebo-controlled trial of gabapentin in spinal muscular atrophy;Miller;J Neurol Sci,2001

5. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(−/−) mice and results in a mouse with spinal muscular atrophy;Monani;Hum Mol Genet,2000

Cited by 76 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. CRISPR-Cpf1 system and its applications in animal genome editing;Molecular Genetics and Genomics;2024-08-01

2. Spinal muscular atrophy caused by compound heterozygous SMN1 mutations: two cases and literature review;Neurological Sciences;2024-07-08

3. Molecular Biomarkers of Neurodegenerative Disorders: A Practical Guide to Their Appropriate Use and Interpretation in Clinical Practice;International Journal of Molecular Sciences;2024-04-13

4. 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

5. Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context;Journal of Biosciences;2024-02-20