The prevalence of spinal muscular atrophy carrier in China-Reference-Cited by-同舟云学术

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The prevalence of spinal muscular atrophy carrier in China

Published:2020-01 Issue:5 Volume:99 Page:e18975
ISSN:0025-7974
Container-title:Medicine
language:en
Short-container-title:

Author:

Li Chao,Geng Yanfang,Zhu Xiaodan,Zhang Linghua,Hong Zhantong,Guo Xiaoling,Xia Chenglai

Funder

the genetic disease program of the sample information and resource pool, by the Science and Technology Bureau of Foshan, China

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference17 articles.

1. SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy;Kissel;Muscle Nerve,2014

2. Spinal muscular atrophy: the role of SMN in axonal mRNA regulation;Fallini;Brain Res,2012

3. Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease;Monani;Neuron,2005

4. Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease;Jedrzejowska;Acta Biochim Pol,2009

5. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA);Wirth;Hum Mutat,2000

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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. Emphasis on the importance of comprehensive clinical and genetic analysis – spinal muscular atrophy combined with phenylketonuria: A case report;Medicine;2024-08-02

3. Nusinersen effectiveness and safety in pediatric patients with 5q-spinal muscular atrophy: a multi-center disease registry in China;Journal of Neurology;2024-07-02

4. Screening of Spinal Muscular Atrophy Carriers and Prenatal Diagnosis in Pregnant Women in Yancheng, China;Biochemical Genetics;2024-04-06

5. Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries;European Journal of Medical Genetics;2024-04

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