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TY  - JOUR
AU  - Orr, H.
TI  - Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
JO  - Nature
PY  - 1993///
VL  - 4
SP  - 221
EP  - 226
ER  - 

TY  - JOUR
AU  - La Spada, A.R.
AU  - Paulson, H.L.
AU  - Fischbeck, K.H.
TI  - Trinucleotide expansion in neurological disease
JO  - Ann. Neural.
PY  - 1994///
VL  - 36
SP  - 814
EP  - 822
ER  - 

TY  - JOUR
AU  - Kawaguchi, Y.
TI  - CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
JO  - Nature Genet.
PY  - 1994///
VL  - 8
SP  - 221
EP  - 227
M3  - 10.1038/ng1194-221
N1  - 10.1038/ng1194-221
UR  - http://dx.doi.org/10.1038/ng1194-221
ER  - 

TY  - JOUR
AU  - Pulst, S.-M.
TI  - Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
JO  - Nature Genet.
PY  - 1996///
VL  - 14
SP  - 269
EP  - 276
M3  - 10.1038/ng1196-269
N1  - 10.1038/ng1196-269
UR  - http://dx.doi.org/10.1038/ng1196-269
ER  - 

TY  - JOUR
AU  - Sanpei, K.
TI  - Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
JO  - Nature Genet.
PY  - 1996///
VL  - 14
SP  - 277
EP  - 284
M3  - 10.1038/ng1196-277
N1  - 10.1038/ng1196-277
UR  - http://dx.doi.org/10.1038/ng1196-277
ER  - 

TY  - JOUR
AU  - Imbert, G.
TI  - Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
JO  - Nature Genet.
PY  - 1996///
VL  - 14
SP  - 285
EP  - 291
M3  - 10.1038/ng1196-285
N1  - 10.1038/ng1196-285
UR  - http://dx.doi.org/10.1038/ng1196-285
ER  - 

TY  - JOUR
AU  - Zhuchenko, O.
TI  - Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the [alpha]1A voltage-dependent calcium channel
JO  - Nature Genet.
PY  - 1997///
VL  - 15
SP  - 62
EP  - 69
M3  - 10.1038/ng0197-62
N1  - 10.1038/ng0197-62
UR  - http://dx.doi.org/10.1038/ng0197-62
ER  - 

TY  - JOUR
AU  - Klockgether, T.
AU  - Kramer, B.
AU  - Ludtke, R.
AU  - Schols, L.
AU  - Laccone, F.
TI  - Repeat length and disease progression in spinocerebellar ataxia type 3
JO  - Lancet
PY  - 1996///
VL  - 348
SP  - 
EP  - 830
ER  - 

TY  - JOUR
AU  - Burk, K.
TI  - Autosomal dominant cerebellar ataxia type I: Clinical features and magnetic resonance imaging in families with SCA1, SCA2 and SCA3
JO  - Brain
PY  - 1996///
VL  - 119
SP  - 1497
EP  - 1505
ER  - 

TY  - JOUR
AU  - Ikeda, H.
TI  - Expanded polyglutamine in the Machado-Joseph disease protein induces Cell death in vitro and in vivo
JO  - Nature Genet.
PY  - 1996///
VL  - 13
SP  - 196
EP  - 202
M3  - 10.1038/ng0696-196
N1  - 10.1038/ng0696-196
UR  - http://dx.doi.org/10.1038/ng0696-196
ER  - 

TY  - JOUR
AU  - Ophoff, R.A.
TI  - Familial hemiplegic migraine and episodic ataxia type 2 are caused by mutations in the Ca2+ channel gene CACNL1A4
JO  - Cell
PY  - 1996///
VL  - 87
SP  - 543
EP  - 552
M3  - 10.1016/S0092-8674(00)81373-2
N1  - 10.1016/S0092-8674(00)81373-2
UR  - http://dx.doi.org/10.1016/S0092-8674(00)81373-2
ER  - 

TY  - JOUR
AU  - Campuzano, V.
TI  - Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
JO  - Science
PY  - 1996///
VL  - 271
SP  - 1423
EP  - 1421
ER  - 

TY  - JOUR
AU  - Durr, A.
TI  - Clinical and genetic abnormalities in patients with Friedreich's ataxia
JO  - N. Engl. I. Med.
PY  - 1996///
VL  - 335
SP  - 1169
EP  - 1175
M3  - 10.1056/NEJM199610173351601
N1  - 10.1056/NEJM199610173351601
UR  - http://dx.doi.org/10.1056/NEJM199610173351601
ER  - 

TY  - JOUR
AU  - Filla, A.
TI  - The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich's ataxia
JO  - Am J. Hum. Genet.
PY  - 1996///
VL  - 59
SP  - 554
EP  - 560
ER  - 

TY  - JOUR
AU  - Carvajal, J.J.
TI  - The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase
JO  - Nature Genet.
PY  - 1996///
VL  - 14
SP  - 157
EP  - 162
ER  - 

TY  - JOUR
AU  - Klockgether, T.
TI  - Late-onset Friedreich's ataxia. Molecular genetics, clinical neurophysiology and magnetic resonance imaging
JO  - Arch. Neural.
PY  - 1993///
VL  - 50
SP  - 803
EP  - 806
ER  - 

