A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance-Reference-Cited by-同舟云学术

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance

Published:2012-07-31 Issue:4 Volume:13 Page:327-332
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Tsurusaki Yoshinori,Saitoh Shinji,Tomizawa Kazuhiro,Sudo Akira,Asahina Naoko,Shiraishi Hideaki,Ito Jun-ichi,Tanaka Hajime,Doi Hiroshi,Saitsu Hirotomo,Miyake Noriko,Matsumoto Naomichi

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-012-0337-6.pdf

Reference10 articles.

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2. Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S (2011) Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot–Marie–Tooth disease. Am J Hum Genet 89(2):308–312. doi: 10.1016/j.ajhg.2011.07.002

3. Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH (2012) Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology 78(22):1714–1720. doi: 10.1212/WNL.0b013e3182556c05

4. Willemsen MH, Vissers LE, Willemsen MA, van Bon BW, Kroes T, de Ligt J, de Vries BB, Schoots J, Lugtenberg D, Hamel BC, van Bokhoven H, Brunner HG, Veltman JA, Kleefstra T (2012) Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. J Med Genet 49(3):179–183. doi: 10.1136/jmedgenet-2011-100542

5. Tsurusaki Y, Okamoto N, Suzuki Y, Doi H, Saitsu H, Miyake N, Matsumoto N (2011) Exome sequencing of two patients in a family with atypical X-linked leukodystrophy. Clin Genet 80(2):161–166. doi: 10.1111/j.1399-0004.2011.01721.x

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