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Items: 1 to 20 of 44

1.

Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6.

Du X, Wang J, Zhu H, Rinaldo L, Lamar KM, Palmenberg AC, Hansel C, Gomez CM.

Cell. 2013 Jul 3;154(1):118-33. doi: 10.1016/j.cell.2013.05.059.

2.

Ethical and policy issues in genetic testing and screening of children.

COMMITTEE ON BIOETHICS.; COMMITTEE ON GENETICS, AND.; AMERICAN COLLEGE OF MEDICAL GENETICS AND.; GENOMICS SOCIAL.; ETHICAL.; LEGAL ISSUES COMMITTEE..

Pediatrics. 2013 Mar;131(3):620-2. doi: 10.1542/peds.2012-3680. Epub 2013 Feb 21.

3.

Molecular pathogenesis of spinocerebellar ataxia type 6.

Kordasiewicz HB, Gomez CM.

Neurotherapeutics. 2007 Apr;4(2):285-94. Review.

PMID:
17395139
4.

Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop.

Cricchi F, Di Lorenzo C, Grieco GS, Rengo C, Cardinale A, Racaniello M, Santorelli FM, Nappi G, Pierelli F, Casali C.

J Neurol Sci. 2007 Mar 15;254(1-2):69-71. Epub 2007 Feb 12.

PMID:
17292920
5.

Altered frequency-dependent inactivation and steady-state inactivation of polyglutamine-expanded alpha1A in SCA6.

Chen H, Piedras-Rentería ES.

Am J Physiol Cell Physiol. 2007 Mar;292(3):C1078-86. Epub 2006 Oct 4.

7.

Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.

Tonelli A, D'Angelo MG, Salati R, Villa L, Germinasi C, Frattini T, Meola G, Turconi AC, Bresolin N, Bassi MT.

J Neurol Sci. 2006 Feb 15;241(1-2):13-7. Epub 2005 Dec 2.

PMID:
16325861
8.

Spinocerebellar ataxia type 6 in Mainland China: molecular and clinical features in four families.

Jiang H, Tang B, Xia K, Zhou Y, Xu B, Zhao G, Li H, Shen L, Pan Q, Cai F.

J Neurol Sci. 2005 Sep 15;236(1-2):25-9.

PMID:
15979648
9.

A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6.

Takahashi H, Ishikawa K, Tsutsumi T, Fujigasaki H, Kawata A, Okiyama R, Fujita T, Yoshizawa K, Yamaguchi S, Tomiyasu H, Yoshii F, Mitani K, Shimizu N, Yamazaki M, Miyamoto T, Orimo T, Shoji S, Kitamura K, Mizusawa H.

J Hum Genet. 2004;49(5):256-64.

PMID:
15362569
10.

Molecular epidemiology of spinocerebellar ataxia type 6.

Craig K, Keers SM, Archibald K, Curtis A, Chinnery PF.

Ann Neurol. 2004 May;55(5):752-5.

PMID:
15122720
11.

The cerebellum and cognition. Intellectual function in spinocerebellar ataxia type 6 (SCA6).

Globas C, Bösch S, Zühlke Ch, Daum I, Dichgans J, Bürk K.

J Neurol. 2003 Dec;250(12):1482-7.

PMID:
14673583
12.

Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6.

Hashimoto T, Sasaki O, Yoshida K, Takei Y, Ikeda S.

Mov Disord. 2003 Oct;18(10):1201-4.

PMID:
14534930
13.

Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.

Alonso I, Barros J, Tuna A, Coelho J, Sequeiros J, Silveira I, Coutinho P.

Arch Neurol. 2003 Apr;60(4):610-4.

PMID:
12707077
14.

Positional vertigo and macroscopic downbeat positioning nystagmus in spinocerebellar ataxia type 6 (SCA6).

Yabe I, Sasaki H, Takeichi N, Takei A, Hamada T, Fukushima K, Tashiro K.

J Neurol. 2003 Apr;250(4):440-3.

PMID:
12700909
15.

Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient.

Mariotti C, Gellera C, Grisoli M, Mineri R, Castucci A, Di Donato S.

Neurology. 2001 Oct 23;57(8):1502-4.

PMID:
11673601
16.

The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.

Ducros A, Denier C, Joutel A, Cecillon M, Lescoat C, Vahedi K, Darcel F, Vicaut E, Bousser MG, Tournier-Lasserve E.

N Engl J Med. 2001 Jul 5;345(1):17-24.

17.

Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine.

Kors EE, Terwindt GM, Vermeulen FL, Fitzsimons RB, Jardine PE, Heywood P, Love S, van den Maagdenberg AM, Haan J, Frants RR, Ferrari MD.

Ann Neurol. 2001 Jun;49(6):753-60.

PMID:
11409427
18.

Meiotic instability of the CAG repeats in the SCA6/CACNA1A gene in two Japanese SCA6 families.

Shimazaki H, Takiyama Y, Sakoe K, Amaike M, Nagaki H, Namekawa M, Sasaki H, Nakano I, Nishizawa M.

J Neurol Sci. 2001 Apr 1;185(2):101-7.

PMID:
11311290
19.

Nineteen CAG repeats of the SCA6 gene in a Japanese patient presenting with ataxia.

Katayama T, Ogura Y, Aizawa H, Kuroda H, Suzuki Y, Kuroda K, Kikuchi K.

J Neurol. 2000 Sep;247(9):711-2. No abstract available.

PMID:
11081813
20.

Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM.

Friend KL, Crimmins D, Phan TG, Sue CM, Colley A, Fung VS, Morris JG, Sutherland GR, Richards RI.

Hum Genet. 1999 Sep;105(3):261-5.

PMID:
10987655

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