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Items: 1 to 20 of 111

1.

The autosomal recessive cerebellar ataxias.

Anheim M, Tranchant C, Koenig M.

N Engl J Med. 2012 Feb 16;366(7):636-46. doi: 10.1056/NEJMra1006610. Review. No abstract available.

PMID:
22335741
2.

[Autosomal recessive cerebellar ataxias].

Tranchant C, Anheim M.

Presse Med. 2009 Dec;38(12):1852-9. doi: 10.1016/j.lpm.2009.01.025. Epub 2009 May 12. Review. French.

PMID:
19442480
3.

Autosomal recessive cerebellar ataxias.

Palau F, Espinós C.

Orphanet J Rare Dis. 2006 Nov 17;1:47. Review.

4.

[Recessive hereditary ataxia with early onset. Clinical study of 27 cases].

Serlenga L, Trizio M, Pozio G, Oteri G, Caldarazzo M.

Riv Neurol. 1987 Sep-Oct;57(5):285-9. Italian.

PMID:
3445070
5.

The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias.

Di Donato S, Gellera C, Mariotti C.

Neurol Sci. 2001 Jun;22(3):219-28. Review.

PMID:
11731874
6.

[Ataxias in children. Clinical and genetic aspects].

Goutieres F.

J Genet Hum. 1981 Sep;29(3):211-20. French. No abstract available.

PMID:
6801195
7.

Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration.

Wolf NI, Koenig M.

Handb Clin Neurol. 2013;113:1869-78. doi: 10.1016/B978-0-444-59565-2.00057-5. Review.

PMID:
23622410
8.

[Clinical and genetic analysis of 188 families with spinocerebellar degeneration. Friedreich's disease and P. Marie's hereditary ataxias].

Ben Hamida M, Attia-Romdhane N, Triki CH, Oueslati S, Hentati F.

Rev Neurol (Paris). 1991;147(12):798-808. French.

PMID:
1780608
9.

Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34.

Németh AH, Bochukova E, Dunne E, Huson SM, Elston J, Hannan MA, Jackson M, Chapman CJ, Taylor AM.

Am J Hum Genet. 2000 Nov;67(5):1320-6. Epub 2000 Oct 5.

10.

Distinct phenotypes within autosomal recessive ataxias not linked to already known loci.

Bouhlal Y, El-Euch-Fayeche G, Amouri R, Hentati F.

Acta Myol. 2005 Oct;24(2):155-61.

PMID:
16550933
11.

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.

Fogel BL, Perlman S.

Lancet Neurol. 2007 Mar;6(3):245-57. Review.

PMID:
17303531
12.
13.

Alpha-fetoprotein as a biomarker for recessive ataxias.

Braga-Neto P, Dutra LA, Pedroso JL, Barsottini OG.

Arq Neuropsiquiatr. 2010 Dec;68(6):953-5. No abstract available.

14.

The genetic basis of hereditary ataxia.

Klockgether T, Dichgans J.

Prog Brain Res. 1997;114:569-76. Review. No abstract available.

PMID:
9193167
15.

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
16.
17.

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.

Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M.

Neurogenetics. 2010 Feb;11(1):1-12. doi: 10.1007/s10048-009-0196-y. Epub 2009 May 14.

PMID:
19440741
18.

Neurological approaches to the inherited ataxias.

Refsum S, Skre H.

Adv Neurol. 1978;21:1-13. Review. No abstract available.

PMID:
367114
19.

[Hereditary ataxias].

Tallaksen CM.

Tidsskr Nor Laegeforen. 2008 Sep 11;128(17):1977-80. Review. Norwegian.

20.

[Hereditary ataxia-problems in the classification, genetics and genetic counseling].

Bachmann H, Lössner J.

Z Gesamte Inn Med. 1981 Jun 1;36(11):387-93. German.

PMID:
7303765
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