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Items: 1 to 20 of 46

1.

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.

2.

Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2.

Liu J, Tang TS, Tu H, Nelson O, Herndon E, Huynh DP, Pulst SM, Bezprozvanny I.

J Neurosci. 2009 Jul 22;29(29):9148-62. doi: 10.1523/JNEUROSCI.0660-09.2009.

3.

Dissociated fear and spatial learning in mice with deficiency of ataxin-2.

Huynh DP, Maalouf M, Silva AJ, Schweizer FE, Pulst SM.

PLoS One. 2009 Jul 20;4(7):e6235. doi: 10.1371/journal.pone.0006235.

4.

Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?

Charles P, Camuzat A, Benammar N, Sellal F, Destée A, Bonnet AM, Lesage S, Le Ber I, Stevanin G, Dürr A, Brice A; French Parkinson's Disease Genetic Study Group..

Neurology. 2007 Nov 20;69(21):1970-5.

PMID:
17568014
5.

Subthalamic-thalamic DBS in a case with spinocerebellar ataxia type 2 and severe tremor-A unusual clinical benefit.

Freund HJ, Barnikol UB, Nolte D, Treuer H, Auburger G, Tass PA, Samii M, Sturm V.

Mov Disord. 2007 Apr 15;22(5):732-5.

PMID:
17265523
6.

Generation and characterization of Sca2 (ataxin-2) knockout mice.

Kiehl TR, Nechiporuk A, Figueroa KP, Keating MT, Huynh DP, Pulst SM.

Biochem Biophys Res Commun. 2006 Jan 6;339(1):17-24.

PMID:
16293225
7.

Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset.

Pulst SM, Santos N, Wang D, Yang H, Huynh D, Velazquez L, Figueroa KP.

Brain. 2005 Oct;128(Pt 10):2297-303.

8.

Spinocerebellar ataxia type 2 (SCA2) with white matter involvement.

Armstrong J, Bonaventura I, Rojo A, González G, Corral J, Nadal N, Volpini V, Ferrer I.

Neurosci Lett. 2005 Jun 24;381(3):247-51.

PMID:
15896478
9.

Extended pathoanatomical studies point to a consistent affection of the thalamus in spinocerebellar ataxia type 2.

Rüb U, Del Turco D, Bürk K, Diaz GO, Auburger G, Mittelbronn M, Gierga K, Ghebremedhin E, Schultz C, Schöls L, Bohl J, Braak H, Deller T.

Neuropathol Appl Neurobiol. 2005 Apr;31(2):127-40.

PMID:
15771706
10.

Damage to the reticulotegmental nucleus of the pons in spinocerebellar ataxia type 1, 2, and 3.

Rüb U, Bürk K, Schöls L, Brunt ER, de Vos RA, Diaz GO, Gierga K, Ghebremedhin E, Schultz C, Del Turco D, Mittelbronn M, Auburger G, Deller T, Braak H.

Neurology. 2004 Oct 12;63(7):1258-63.

PMID:
15477548
11.

Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2.

Velázquez-Pérez L, Seifried C, Santos-Falcón N, Abele M, Ziemann U, Almaguer LE, Martínez-Góngora E, Sánchez-Cruz G, Canales N, Pérez-González R, Velázquez-Manresa M, Viebahn B, von Stuckrad-Barre S, Fetter M, Klockgether T, Auburger G.

Ann Neurol. 2004 Sep;56(3):444-7.

PMID:
15349876
12.

Spinocerebellar ataxia type 2 with Levodopa-responsive parkinsonism culminating in motor neuron disease.

Infante J, Berciano J, Volpini V, Corral J, Polo JM, Pascual J, Combarros O.

Mov Disord. 2004 Jul;19(7):848-52.

PMID:
15254952
13.

Deficits in ocular and manual tracking due to episodic ataxia type 2.

Engel KC, Anderson JH, Gomez CM, Soechting JF.

Mov Disord. 2004 Jul;19(7):778-87.

PMID:
15254935
14.
15.

Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy.

Moretti P, Blazo M, Garcia L, Armstrong D, Lewis RA, Roa B, Scaglia F.

Am J Med Genet A. 2004 Feb 1;124A(4):392-6.

PMID:
14735588
16.

The parkinsonian phenotype of spinocerebellar ataxia type 2.

Lu CS, Wu Chou YH, Kuo PC, Chang HC, Weng YH.

Arch Neurol. 2004 Jan;61(1):35-8.

PMID:
14732617
17.

Thalamic involvement in a spinocerebellar ataxia type 2 (SCA2) and a spinocerebellar ataxia type 3 (SCA3) patient, and its clinical relevance.

Rüb U, Del Turco D, Del Tredici K, de Vos RA, Brunt ER, Reifenberger G, Seifried C, Schultz C, Auburger G, Braak H.

Brain. 2003 Oct;126(Pt 10):2257-72. Review.

18.

Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell death.

Huynh DP, Yang HT, Vakharia H, Nguyen D, Pulst SM.

Hum Mol Genet. 2003 Jul 1;12(13):1485-96.

19.

Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients.

Lee WY, Jin DK, Oh MR, Lee JE, Song SM, Lee EA, Kim GM, Chung JS, Lee KH.

Arch Neurol. 2003 Jun;60(6):858-63. Erratum in: Arch Neurol. 2003 Sep;60(9):1256.

PMID:
12810491
20.

SCA2 may present as levodopa-responsive parkinsonism.

Payami H, Nutt J, Gancher S, Bird T, McNeal MG, Seltzer WK, Hussey J, Lockhart P, Gwinn-Hardy K, Singleton AA, Singleton AB, Hardy J, Farrer M.

Mov Disord. 2003 Apr;18(4):425-9.

PMID:
12671950
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