Genetics of motor neuron disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,General Neuroscience
Link
http://link.springer.com/content/pdf/10.1007/s11910-996-0024-9.pdf
Reference59 articles.
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2. Yang Y, Hentati A, Deng HX, et al.: 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 2001, 29:160–165.
3. Hadano S, Hand CK, Osuga H, et al.: A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 2001, 29:166–173.
4. Chen YZ, Bennett CL, Huynh HM, et al.: DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 2004, 74:1128–1135. Identification of mutations in the SETX gene in an autosomal dominant form of juvenile ALS. This study also reports the presence of a DNA/RNA helicase domain in the senataxin protein and a possible function in RNA processing.
5. Nishimura AL, Mitne-Neto M, Silva HC, et al.: A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet 2004, 75:822–831. First report of a missense mutation in the VAPB gene in ALS8. This paper also suggests that a dysfunction of membrane vesicle transport along microtubules could cause selective motor neuron death.
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