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Items: 1 to 20 of 154

1.

Clinical and genetic study of a family with spinocerebellar ataxia type 1 (SCA1) and beta-thalassemia.

Pietrini V, Godani M, Calzetti S, Negrotti A, Castellotti B, Riggio MC, Toffoli C.

Ital J Neurol Sci. 1998 Dec;19(6):345-50.

PMID:
10935828
2.

A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23.

Chung MY, Lu YC, Cheng NC, Soong BW.

Brain. 2003 Jun;126(Pt 6):1293-9.

PMID:
12764052
3.

[Clinico-genetic study of type I spinocerebelllar ataxia].

Svetel M, Culjković B, Sternić N, Dragasević B, Stojković I, Romac S, Kostić VS.

Srp Arh Celok Lek. 1999 May-Jun;127(5-6):157-62. Serbian.

PMID:
10500422
4.

[Spinocerebellar ataxia type VII (AEC 7). Report of a Spanish family with the disease].

Mayo D, Yusta A, Vázquez JM, García-Ruiz P, Robledo M, Benítez J.

Rev Neurol. 1999 May 16-31;28(10):964-6. Spanish.

PMID:
10416231
5.

Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.

Oda M, Maruyama H, Komure O, Morino H, Terasawa H, Izumi Y, Imamura T, Yasuda M, Ichikawa K, Ogawa M, Matsumoto M, Kawakami H.

Arch Neurol. 2004 Feb;61(2):209-12.

PMID:
14967767
6.

[Spinocerebellar ataxia type 7: clinical and molecular genetic analysis of a Mexican family].

Rolón Lacarriere O, Rasmussen Almaraz A, Hernández Cruz H, Carranza del Río J, González Cruz M, Gutiérrez Moctezuma J.

Rev Neurol. 2004 Apr 16-30;38(8):736-40. Spanish.

7.

Trinucleotide expansions in the SCA7 gene in a large family with spinocerebellar ataxia and craniocervical dystonia.

Lin Y, Zheng JY, Jin YH, Xie YC, Jin ZB.

Neurosci Lett. 2008 Mar 28;434(2):230-3. doi: 10.1016/j.neulet.2008.01.077. Epub 2008 Feb 13.

PMID:
18325672
8.

Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region.

Hellenbroich Y, Bubel S, Pawlack H, Opitz S, Vieregge P, Schwinger E, Zühlke C.

J Neurol. 2003 Jun;250(6):668-71.

PMID:
12796826
9.

Spinocerebellar ataxia type 2 (SCA2): clinical features and genetic analysis.

Mutesa L, Pierquin G, Segers K, Vanbellinghen JF, Gahimbare L, Bours V.

J Trop Pediatr. 2008 Oct;54(5):350-2. doi: 10.1093/tropej/fmn034. Epub 2008 May 22.

PMID:
18499737
10.

Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12.

Srivastava AK, Choudhry S, Gopinath MS, Roy S, Tripathi M, Brahmachari SK, Jain S.

Ann Neurol. 2001 Dec;50(6):796-800.

PMID:
11761478
11.

Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion.

Juvonen V, Hietala M, Päivärinta M, Rantamäki M, Hakamies L, Kaakkola S, Vierimaa O, Penttinen M, Savontaus ML.

Ann Neurol. 2000 Sep;48(3):354-61.

PMID:
10976642
12.

[Spinocerebellar ataxia 7. Clinical and genetic investigation in an Argentine family].

Rojas JI, Romano M, Patrucco L, Zurru MC, Igarreta P, Cristiano E.

Medicina (B Aires). 2007;67(2):147-50. Spanish.

PMID:
17593599
13.

Ophthalmological findings in patients with spinocerebellar ataxia type 1 are not correlated with neurological anticipation.

Abe T, Abe K, Tsuda T, Itoyama Y, Tamai M.

Graefes Arch Clin Exp Ophthalmol. 2001 Oct;239(10):722-8.

PMID:
11760030
14.

Spinocerebellar ataxia type 2 in a Turkish family.

Dirik E, Yiş U, Başak N, Soydan E, Hüdaoğlu O, Ozgönül F.

J Child Neurol. 2007 Jul;22(7):891-4.

PMID:
17715286
15.

Clinical features and genetic analysis of a new form of spinocerebellar ataxia.

Devos D, Schraen-Maschke S, Vuillaume I, Dujardin K, Nazé P, Willoteaux C, Destée A, Sablonnière B.

Neurology. 2001 Jan 23;56(2):234-8.

PMID:
11160961
16.

Mapping of autosomal dominant cerebellar ataxia without the pathogenic PPP2R2B mutation to the locus for spinocerebellar ataxia 12.

Sato K, Yabe I, Fukuda Y, Soma H, Nakahara Y, Tsuji S, Sasaki H.

Arch Neurol. 2010 Oct;67(10):1257-62. doi: 10.1001/archneurol.2010.231.

PMID:
20937954
17.

Meiotic CAG repeat instability in spinocerebellar ataxia type 6: maternally transmitted elongation in a presumed sporadic case.

Lindquist SG, Nørremølle A, Hjermind LE, Hasholt L, Nielsen JE.

J Neurol Sci. 2006 Feb 15;241(1-2):95-8. Epub 2005 Nov 28.

PMID:
16310805
18.

Molecular and clinical study of spinocerebellar ataxia type 7 in Chinese kindreds.

Gu W, Wang Y, Liu X, Zhou B, Zhou Y, Wang G.

Arch Neurol. 2000 Oct;57(10):1513-8.

PMID:
11030806
19.

[Clinical and genetic studies of a family from Peru affected by spinocerebellar ataxia type 7].

Castañeda MA, Avalos C, Jerí FR.

Rev Neurol. 2000 Nov 16-30;31(10):923-8. Spanish.

PMID:
11244684
20.

Spinocerebellar ataxia type 1 in China: molecular analysis and genotype-phenotype correlation in 5 families.

Zhou YX, Qiao WH, Gu WH, Xie H, Tang BS, Zhou LS, Yang BX, Takiyama Y, Tsuji S, He HY, Deng CX, Goldfarb LG, Wang GX.

Arch Neurol. 2001 May;58(5):789-94.

PMID:
11346374

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