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Items: 6

1.

Cognitive impairment in ARCA-1, a newly discovered pure cerebellar ataxia syndrome.

Laforce R Jr, Buteau JP, Bouchard JP, Rouleau GA, Bouchard RW, Dupré N.

Cerebellum. 2010 Sep;9(3):443-53. doi: 10.1007/s12311-010-0184-7.

PMID:
20559786
2.

Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis.

Attali R, Warwar N, Israel A, Gurt I, McNally E, Puckelwartz M, Glick B, Nevo Y, Ben-Neriah Z, Melki J.

Hum Mol Genet. 2009 Sep 15;18(18):3462-9. doi: 10.1093/hmg/ddp290. Epub 2009 Jun 19.

PMID:
19542096
3.

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.

Gros-Louis F, Dupré N, Dion P, Fox MA, Laurent S, Verreault S, Sanes JR, Bouchard JP, Rouleau GA.

Nat Genet. 2007 Jan;39(1):80-5. Epub 2006 Dec 10.

PMID:
17159980
4.

An approach to the patient with late-onset cerebellar ataxia.

Fogel BL, Perlman S.

Nat Clin Pract Neurol. 2006 Nov;2(11):629-35; quiz 1 p following 635.

PMID:
17057750
5.

An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains.

Ishikawa K, Toru S, Tsunemi T, Li M, Kobayashi K, Yokota T, Amino T, Owada K, Fujigasaki H, Sakamoto M, Tomimitsu H, Takashima M, Kumagai J, Noguchi Y, Kawashima Y, Ohkoshi N, Ishida G, Gomyoda M, Yoshida M, Hashizume Y, Saito Y, Murayama S, Yamanouchi H, Mizutani T, Kondo I, Toda T, Mizusawa H.

Am J Hum Genet. 2005 Aug;77(2):280-96. Epub 2005 Jul 6.

6.

Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred.

Bürk K, Zühlke C, König IR, Ziegler A, Schwinger E, Globas C, Dichgans J, Hellenbroich Y.

Neurology. 2004 Jan 27;62(2):327-9. Review.

PMID:
14745083

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