Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia

Movement Disorders ◽

10.1002/mds.22835 ◽

2010 ◽

Vol 25 (9) ◽

pp. 1269-1273 ◽

Author(s):

Alessandro Brussino ◽

Claudio Graziano ◽

Dario Giobbe ◽

Marina Ferrone ◽

Elisa Dragone ◽

...

Keyword(s):

Spinocerebellar Ataxia ◽

Spinocerebellar Ataxia Type ◽

Sporadic Ataxia

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Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6

Clinical Genetics ◽

10.1034/j.1399-0004.1998.531530104.x ◽

1998 ◽

Vol 53 (1) ◽

pp. 13-19 ◽

Author(s):

Hidetaka Watanabe ◽

Fumiaki Tanaka ◽

Michiyo Matsumoto ◽

Manabu Doyu ◽

Tetsuo Ando ◽

...

Keyword(s):

Spinocerebellar Ataxia ◽

Frequency Analysis ◽

Autosomal Dominant ◽

Japanese Patients ◽

Spinocerebellar Ataxia Type ◽

Spinocerebellar Ataxia Type 6 ◽

Cerebellar Ataxias

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Mitochondrial impairment in patients with spinocerebellar ataxia type 3

Aktuelle Neurologie ◽

10.1055/s-2004-833082 ◽

2004 ◽

Vol 31 (S 1) ◽

Author(s):

L Schöls ◽

J Andrich ◽

H Przuntek ◽

K Müller ◽

J Zange

Keyword(s):

Spinocerebellar Ataxia ◽

Spinocerebellar Ataxia Type ◽

Spinocerebellar Ataxia Type 3 ◽

Mitochondrial Impairment ◽

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Eye hand coordination in spinocerebellar ataxia type 17

Klinische Neurophysiologie ◽

10.1055/s-2006-939304 ◽

2006 ◽

Vol 37 (01) ◽

Author(s):

P Trillenberg ◽

A Sprenger ◽

A Hiller ◽

C Klein ◽

G Weinberger ◽

...

Keyword(s):

Spinocerebellar Ataxia ◽

Spinocerebellar Ataxia Type ◽

Hand Coordination ◽

Spinocerebellar Ataxia Type 17

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Eye movement abnormalities in spinocerebellar ataxia type 17

Aktuelle Neurologie ◽

10.1055/s-2006-953057 ◽

2006 ◽

Vol 33 (S 1) ◽

Author(s):

J. Hübner ◽

A. Sprenger ◽

J. Hagenah ◽

C. Klein ◽

H. Rambold ◽

...

Keyword(s):

Eye Movement ◽

Spinocerebellar Ataxia ◽

Spinocerebellar Ataxia Type ◽

Spinocerebellar Ataxia Type 17

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Preserved eye-hand coordination in spinocerebellar ataxia type 17

Aktuelle Neurologie ◽

10.1055/s-2006-953074 ◽

2006 ◽

Vol 33 (S 1) ◽

Author(s):

P. Trillenberg ◽

A. Sprenger ◽

A. Hiller ◽

C. Klein ◽

G. Weinberger ◽

...

Keyword(s):

Spinocerebellar Ataxia ◽

Spinocerebellar Ataxia Type ◽

Hand Coordination ◽

Spinocerebellar Ataxia Type 17

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Faculty Opinions recommendation of Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1013653.191600 ◽

2003 ◽

Author(s):

Stuart Lipton

Keyword(s):

Spinocerebellar Ataxia ◽

Spinocerebellar Ataxia Type ◽

Spinocerebellar Ataxia Type 1

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Faculty Opinions recommendation of Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1097271.553292 ◽

2007 ◽

Author(s):

Albert La Spada

Keyword(s):

Spinocerebellar Ataxia ◽

Tau Phosphorylation ◽

Spinocerebellar Ataxia Type

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Faculty Opinions recommendation of Mutant β-III spectrin causes mGluR1α mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718505242.793529550 ◽

2017 ◽

Author(s):

Masanobu Kano

Keyword(s):

Mouse Model ◽

Spinocerebellar Ataxia ◽

Spinocerebellar Ataxia Type ◽

Functional Deficits

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Faculty Opinions recommendation of Oculomotor deficits in spinocerebellar ataxia type 3: Potential biomarkers of preclinical detection and disease progression.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.727305821.793552233 ◽

2018 ◽

Author(s):

Alexandra Durr

Keyword(s):

Disease Progression ◽

Spinocerebellar Ataxia ◽

Spinocerebellar Ataxia Type ◽

Spinocerebellar Ataxia Type 3 ◽

Type 3 ◽

Potential Biomarkers

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Faculty Opinions recommendation of Caffeic acid and resveratrol ameliorate cellular damage in cell and Drosophila models of spinocerebellar ataxia type 3 through upregulation of Nrf2 pathway.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.732321491.793552234 ◽

2018 ◽

Author(s):

Alexandra Durr

Keyword(s):

Caffeic Acid ◽

Spinocerebellar Ataxia ◽

Cellular Damage ◽

Spinocerebellar Ataxia Type ◽

Spinocerebellar Ataxia Type 3 ◽

Nrf2 Pathway ◽

Type 3 ◽

Drosophila Models

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