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Items: 1 to 20 of 33

1.

SCA2 trinucleotide expansion in German SCA patients.

Riess O, Laccone FA, Gispert S, Schöls L, Zühlke C, Vieira-Saecker AM, Herlt S, Wessel K, Epplen JT, Weber BH, Kreuz F, Chahrokh-Zadeh S, Meindl A, Lunkes A, Aguiar J, Macek M Jr, Krebsová A, Macek M Sr, Bürk K, Tinschert S, Schreyer I, Pulst SM, Auburger G.

Neurogenetics. 1997 May;1(1):59-64.

PMID:
10735276
2.

Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds.

Schöls L, Gispert S, Vorgerd M, Menezes Vieira-Saecker AM, Blanke P, Auburger G, Amoiridis G, Meves S, Epplen JT, Przuntek H, Pulst SM, Riess O.

Arch Neurol. 1997 Sep;54(9):1073-80.

PMID:
9311350
3.

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.

Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC.

Nat Genet. 1997 Jan;15(1):62-9.

PMID:
8988170
4.

Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation.

Schöls L, Amoiridis G, Epplen JT, Langkafel M, Przuntek H, Riess O.

J Neurol Neurosurg Psychiatry. 1996 Nov;61(5):466-70.

5.

Absence epilepsy in tottering mutant mice is associated with calcium channel defects.

Fletcher CF, Lutz CM, O'Sullivan TN, Shaughnessy JD Jr, Hawkes R, Frankel WN, Copeland NG, Jenkins NA.

Cell. 1996 Nov 15;87(4):607-17.

6.

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.

Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM, Lamerdin JE, Mohrenweiser HW, Bulman DE, Ferrari M, Haan J, Lindhout D, van Ommen GJ, Hofker MH, Ferrari MD, Frants RR.

Cell. 1996 Nov 1;87(3):543-52.

7.

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.

Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N, Dürr A, Didierjean O, Stevanin G, Agid Y, Brice A.

Nat Genet. 1996 Nov;14(3):285-91.

PMID:
8896557
8.

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T, Koide R, Saito M, Sato A, Tanaka T, Hanyu S, Takiyama Y, Nishizawa M, Shimizu N, Nomura Y, Segawa M, Iwabuchi K, Eguchi I, Tanaka H, Takahashi H, Tsuji S.

Nat Genet. 1996 Nov;14(3):277-84.

PMID:
8896556
9.

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A, DeJong P, Rouleau GA, Auburger G, Korenberg JR, Figueroa C, Sahba S.

Nat Genet. 1996 Nov;14(3):269-76.

PMID:
8896555
10.

Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1.

Flanigan K, Gardner K, Alderson K, Galster B, Otterud B, Leppert MF, Kaplan C, Ptácek LJ.

Am J Hum Genet. 1996 Aug;59(2):392-9.

11.

Spinocerebellar ataxia type 1: Clinical and neurophysiological characteristics in German kindreds.

Schöls L, Riess O, Schöls S, Zeck S, Amoiridis G, Langkafel M, Epplen JT, Przuntek H.

Acta Neurol Scand. 1995 Dec;92(6):478-85.

PMID:
8750114
12.

Familial hemiplegic migraine: a clinical comparison of families linked and unlinked to chromosome 19.DMG RG.

Terwindt GM, Ophoff RA, Haan J, Frants RR, Ferrari MD.

Cephalalgia. 1996 May;16(3):153-5.

PMID:
8734765
14.

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M.

Science. 1996 Mar 8;271(5254):1423-7.

PMID:
8596916
15.

Familial hemiplegic migraine, nystagmus, and cerebellar atrophy.

Elliott MA, Peroutka SJ, Welch S, May EF.

Ann Neurol. 1996 Jan;39(1):100-6.

PMID:
8572654
16.

The gene for Machado-Joseph disease maps to human chromosome 14q.

Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, Shimazaki H, Soutome M, Endo K, Ohta S, et al.

Nat Genet. 1993 Jul;4(3):300-4.

PMID:
8358439
17.

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1.

Gispert S, Twells R, Orozco G, Brice A, Weber J, Heredero L, Scheufler K, Riley B, Allotey R, Nothers C, et al.

Nat Genet. 1993 Jul;4(3):295-9.

PMID:
8358438
18.

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY.

Nat Genet. 1993 Jul;4(3):221-6.

PMID:
8358429
19.

A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.

Stevanin G, Le Guern E, Ravisé N, Chneiweiss H, Dürr A, Cancel G, Vignal A, Boch AL, Ruberg M, Penet C, et al.

Am J Hum Genet. 1994 Jan;54(1):11-20.

20.

Clinical features and natural history of multiple system atrophy. An analysis of 100 cases.

Wenning GK, Ben Shlomo Y, Magalhães M, Daniel SE, Quinn NP.

Brain. 1994 Aug;117 ( Pt 4):835-45.

PMID:
7922469

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