A multi-source approach to determine SMA incidence and research ready population-Reference-Cited by-同舟云学术

A multi-source approach to determine SMA incidence and research ready population

Published:2017-06-20 Issue:7 Volume:264 Page:1465-1473
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Verhaart Ingrid E. C.^ORCID,Robertson Agata,Leary Rebecca,McMacken Grace,König Kirsten,Kirschner Janbernd,Jones Cynthia C.,Cook Suzanne F.,Lochmüller Hanns^ORCID

Funder

Biogen

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/article/10.1007/s00415-017-8549-1/fulltext.html

Reference32 articles.

1. Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M et al (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80(1):155–165. doi: 10.1016/0092-8674(95)90460-3

2. Wirth B, Herz M, Wetter A, Moskau S, Hahnen E, Rudnik-Schoneborn S, Wienker T, Zerres K (1999) Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am J Hum Genet 64(5):1340–1356. doi: 10.1086/302369

3. Burglen L, Lefebvre S, Clermont O, Burlet P, Viollet L, Cruaud C, Munnich A, Melki J (1996) Structure and organization of the human survival motor neurone (SMN) gene. Genomics 32(3):479–482. doi: 10.1006/geno.1996.0147

4. Gennarelli M, Lucarelli M, Capon F, Pizzuti A, Merlini L, Angelini C, Novelli G, Dallapiccola B (1995) Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem Biophys Res Commun 213(1):342–348. doi: 10.1006/bbrc.1995.2135

5. Feldkotter M, Schwarzer V, Wirth R, Wienker TF, Wirth B (2002) Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 70(2):358–368. doi: 10.1086/338627

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