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Neurological Sciences

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01-07-2015 | Letter to the Editor

Novel compound heterozygous ALS2 mutations in two Chinese siblings with infantile ascending hereditary spastic paralysis

Authors: Fei Xie, Zhi-dong Cen, Jian-feng Xiao, Wei Luo

Published in: Neurological Sciences | Issue 7/2015

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Hadano S, Hand CK, Osuga H et al (2001) A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 29:166–173. doi:10.1038/ng1001-166 PubMedCrossRef

Yang Y, Hentati A, Deng HX et al (2001) The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 29:160–165. doi:10.1038/ng1001-160 PubMedCrossRef

Eymard-Pierre E, Lesca G, Dollet S et al (2002) Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet 71:518–527. doi:10.1086/342359 PubMedCentralPubMedCrossRef

Eker HK, Unlu SE, Al-Salmi F, Crosby AH (2014) A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis. Eur J Med Genet 57:275–278. doi:10.1016/j.ejmg.2014.03.006 PubMedCrossRef

Flor-de-Lima F, Sampaio M, Nahavandi N, Fernandes S, Leao M (2014) Alsin related disorders: literature review and case study with novel mutations. Case Rep Genet 2014:691515. doi:10.1155/2014/691515 PubMedCentralPubMed

Title: Novel compound heterozygous ALS2 mutations in two Chinese siblings with infantile ascending hereditary spastic paralysis
Authors: Fei Xie
Zhi-dong Cen
Jian-feng Xiao
Wei Luo
Publication date: 01-07-2015
Publisher: Springer Milan
Published in: Neurological Sciences / Issue 7/2015
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-014-2018-8

At a glance: The STEP trials

Springer Medicine

Novel compound heterozygous ALS2 mutations in two Chinese siblings with infantile ascending hereditary spastic paralysis

Excerpt

At a glance: The STEP trials

Springer Medicine

Excerpt

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