Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood-Reference-Cited by-同舟云学术

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

Published:2013-10-04 Issue:3-4 Volume:14 Page:225-232
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Ohba Chihiro,Osaka Hitoshi,Iai Mizue,Yamashita Sumimasa,Suzuki Yume,Aida Noriko,Shimozawa Nobuyuki,Takamura Ayumi,Doi Hiroshi,Tomita-Katsumoto Atsuko,Nishiyama Kiyomi,Tsurusaki Yoshinori,Nakashima Mitsuko,Miyake Noriko,Eto Yoshikatsu,Tanaka Fumiaki,Matsumoto Naomichi,Saitsu Hirotomo

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-013-0375-8.pdf

Reference30 articles.

1. Poretti A, Wolf NI, Boltshauser E (2008) Differential diagnosis of cerebellar atrophy in childhood. Eur J Paediatr Neurol 12(3):155–167. doi: 10.1016/j.ejpn.2007.07.010

2. Al-Maawali A, Blaser S, Yoon G (2012) Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients. J Child Neurol 27(9):1121–1132. doi: 10.1177/0883073812448680

3. Schaefer AM, McFarland R, Blakely EL, He L, Whittaker RG, Taylor RW, Chinnery PF, Turnbull DM (2008) Prevalence of mitochondrial DNA disease in adults. Ann Neurol 63(1):35–39. doi: 10.1002/ana.21217

4. Santorelli FM, Garavaglia B, Cardona F, Nardocci N, Bernardina BD, Sartori S, Suppiej A, Bertini E, Claps D, Battini R, Biancheri R, Filocamo M, Pezzini F, Simonati A (2013) Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. Orphanet J Rare Dis 8:19. doi: 10.1186/1750-1172-8-19

5. Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM (2009) Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. Brain 132(Pt 6):1577–1588. doi: 10.1093/brain/awp056

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