Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA-Reference-Cited by-同舟云学术

Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA

Published:2017-10 Issue:9 Volume:39 Page:774-782
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Ar Rochmah Mawaddah,Harahap Nur Imma Fatimah,Niba Emma Tabe Eko,Nakanishi Kenta,Awano Hiroyuki,Morioka Ichiro,Iijima Kazumoto,Saito Toshio,Saito Kayoko,Lai Poh San,Takeshima Yasuhiro,Takeuchi Atsuko,Bouike Yoshihiro,Okamoto Maya,Nishio Hisahide,Shinohara Masakazu

Funder

Japan Agency for Medical Research and Development

Ministry of Education, Culture, Sports, Science and Technology, Japan

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference36 articles.

1. Spinal muscular atrophy: from gene discovery to clinical trials;Nurputra;Ann Hum Genet,2013

2. International SMA consortium meeting;Munsat;Neuromuscul Disord,1992

3. The changing natural history of spinal muscular atrophy type 1;Oskoui;Neurology,2007

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

5. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number;McAndrew;Am J Hum Genet,1997

Cited by 12 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. Current Advances in Genetic Testing for Spinal Muscular Atrophy;Current Genomics;2023-09

2. Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series;Journal of Medical Case Reports;2022-11-15

3. Opportunities for an early recognition of spinal muscular atrophy in primary care: a nationwide, population-based, study in Italy;Family Practice;2022-08-11

4. DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation in G6PC by Combination of Modified Competitive Oligonucleotide Priming-PCR and Melting Curve Analysis;International Journal of Neonatal Screening;2021-11-16

5. Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots;Genes;2021-10-14