-
1
-
-
33847019962
-
Mitochondrial translation initiation factor 3 gene polymorphism associated with Parkinson's disease
-
Abahuni N., et al. Mitochondrial translation initiation factor 3 gene polymorphism associated with Parkinson's disease. Neurosci. Lett. 2007, 414:126-129.
-
(2007)
Neurosci. Lett.
, vol.414
, pp. 126-129
-
-
Abahuni, N.1
-
2
-
-
37749039120
-
DAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1
-
Al-Ramahi I., et al. dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1. PLoS Genet. 2007, 3:e234.
-
(2007)
PLoS Genet.
, vol.3
-
-
Al-Ramahi, I.1
-
3
-
-
34547562663
-
Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group
-
Andersen P.M., et al. Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group. Amyotroph. Lateral Scler. 2007, 8:195-213.
-
(2007)
Amyotroph. Lateral Scler.
, vol.8
, pp. 195-213
-
-
Andersen, P.M.1
-
4
-
-
81955161090
-
Spinocerebellar Ataxia type 2, Chapter 26
-
Elsevier Science, S.H. Subramony (Ed.) Ataxic Disorders
-
Auburger G. Spinocerebellar Ataxia type 2, Chapter 26. Handbook of Clinical Neurology 2011, vol. 103. Elsevier Science. S.H. Subramony (Ed.).
-
(2011)
Handbook of Clinical Neurology
, vol.103
-
-
Auburger, G.1
-
5
-
-
27744553995
-
Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients
-
Berg D., et al. Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients. Mov. Disord. 2005, 20:1191-1194.
-
(2005)
Mov. Disord.
, vol.20
, pp. 1191-1194
-
-
Berg, D.1
-
6
-
-
77954977879
-
Enlarged hyperechogenic substantia nigra is related to motor performance and olfaction in the elderly
-
Berg D., et al. Enlarged hyperechogenic substantia nigra is related to motor performance and olfaction in the elderly. Mov. Disord. 2010, 25:1464-1469.
-
(2010)
Mov. Disord.
, vol.25
, pp. 1464-1469
-
-
Berg, D.1
-
7
-
-
77958479016
-
Dissecting the role of the mitochondrial chaperone mortalin in Parkinson's disease: functional impact of disease-related variants on mitochondrial homeostasis
-
Burbulla L.F., et al. Dissecting the role of the mitochondrial chaperone mortalin in Parkinson's disease: functional impact of disease-related variants on mitochondrial homeostasis. Hum. Mol. Genet. 2010, 19:4437-4452.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 4437-4452
-
-
Burbulla, L.F.1
-
8
-
-
8244220324
-
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families
-
Cancel G., et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum. Mol. Genet. 1997, 6:709-715.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 709-715
-
-
Cancel, G.1
-
9
-
-
36349021396
-
Are interrupted SCA2 CAG repeat expansions responsible for Parkinsonism?
-
Charles P., et al. Are interrupted SCA2 CAG repeat expansions responsible for Parkinsonism?. Neurology 2007, 69:1970-1975.
-
(2007)
Neurology
, vol.69
, pp. 1970-1975
-
-
Charles, P.1
-
10
-
-
80051566617
-
Ataxin-2 intermediate-length polyglutamine: a possible risk factor for Chinese patients with amyotrophic lateral sclerosis
-
Chen Y., et al. Ataxin-2 intermediate-length polyglutamine: a possible risk factor for Chinese patients with amyotrophic lateral sclerosis. Neurobiol. Aging 2011, 32(10):1925.e1-1925.e5.
-
(2011)
Neurobiol. Aging
, vol.32
, Issue.10
-
-
Chen, Y.1
-
11
-
-
33645728053
-
Case-control study of the parkin gene in early-onset Parkinson disease
-
Clark L.N., et al. Case-control study of the parkin gene in early-onset Parkinson disease. Arch. Neurol. 2006, 63:548-552.
-
(2006)
Arch. Neurol.
, vol.63
, pp. 548-552
-
-
Clark, L.N.1
-
12
-
-
80054874200
-
ATXN-2 CAG repeat expansions are interrupted in ALS patients
-
May 3 [Epub ahead of print]
-
Corrado L., et al. ATXN-2 CAG repeat expansions are interrupted in ALS patients. Hum. Genet. 2011, May 3 [Epub ahead of print].
-
(2011)
Hum. Genet.
-
-
Corrado, L.1
-
13
-
-
74349086247
-
Caring for Machado-Joseph disease: current understanding and how to help patients
-
D'Abreu A., et al. Caring for Machado-Joseph disease: current understanding and how to help patients. Parkinsonism Relat. Disord. 2010, 16:2-7.
-
(2010)
Parkinsonism Relat. Disord.
, vol.16
, pp. 2-7
-
-
D'Abreu, A.1
-
14
-
-
79958746230
-
Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis
-
Daoud H., et al. Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis. Arch. Neurol. 2011, 68:739-742.
-
(2011)
Arch. Neurol.
, vol.68
, pp. 739-742
-
-
Daoud, H.1
-
15
-
-
77956155218
-
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
-
Elden A.C., et al. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 2010, 466:1069-1075.
-
(2010)
Nature
, vol.466
, pp. 1069-1075
-
-
Elden, A.C.1
-
16
-
-
33746594215
-
A regulated interaction with the UIM protein Eps15 implicates parkin in EGF receptor trafficking and PI(3)K-Akt signalling
-
Fallon L., et al. A regulated interaction with the UIM protein Eps15 implicates parkin in EGF receptor trafficking and PI(3)K-Akt signalling. Nat. Cell Biol. 2006, 8:834-842.
-
(2006)
Nat. Cell Biol.
, vol.8
, pp. 834-842
-
-
Fallon, L.1
-
17
-
-
0023898945
-
The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease
-
Gibb W.R., Lees A.J. The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease. J. Neurol. Neurosurg. Psychiatry 1988, 51:745-752.
-
(1988)
J. Neurol. Neurosurg. Psychiatry
, vol.51
, pp. 745-752
-
-
Gibb, W.R.1
Lees, A.J.2
-
18
-
-
12144250944
-
Failure to find alpha-synuclein gene dosage changes in 190 patients with familial Parkinson disease
-
Gispert S., et al. Failure to find alpha-synuclein gene dosage changes in 190 patients with familial Parkinson disease. Arch. Neurol. 2005, 62:96-98.
-
(2005)
Arch. Neurol.
, vol.62
, pp. 96-98
-
-
Gispert, S.1
-
19
-
-
4644262568
-
The shortest expanded allele of the MJD1 gene in a Chinese MJD kindred with autonomic dysfunction
-
Gu W., et al. The shortest expanded allele of the MJD1 gene in a Chinese MJD kindred with autonomic dysfunction. Eur. Neurol. 2004, 52:107-111.
-
(2004)
Eur. Neurol.
, vol.52
, pp. 107-111
-
-
Gu, W.1
-
20
-
-
0034718577
-
Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese
-
Gwinn-Hardy K., et al. Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese. Neurology 2000, 55:800-805.
-
(2000)
Neurology
, vol.55
, pp. 800-805
-
-
Gwinn-Hardy, K.1
-
21
-
-
0035118860
-
Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family
-
Gwinn-Hardy K., et al. Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family. Arch. Neurol. 2001, 58:296-299.
-
(2001)
Arch. Neurol.
, vol.58
, pp. 296-299
-
-
Gwinn-Hardy, K.1
-
22
-
-
79956301405
-
The KRAB-containing zinc-finger transcriptional regulator ZBRK1 activates SCA2 gene transcription through direct interaction with its gene product, ataxin-2
-
Hallen L., et al. The KRAB-containing zinc-finger transcriptional regulator ZBRK1 activates SCA2 gene transcription through direct interaction with its gene product, ataxin-2. Hum. Mol. Genet. 2010, 20:104-114.
-
(2010)
Hum. Mol. Genet.
, vol.20
, pp. 104-114
-
-
Hallen, L.1
-
23
-
-
33846545106
-
Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell death
-
Huynh D.P., et al. Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell death. Exp. Neurol. 2007, 203:531-541.
-
(2007)
Exp. Neurol.
, vol.203
, pp. 531-541
-
-
Huynh, D.P.1
-
24
-
-
0030294345
-
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
-
Imbert G., et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat. Genet. 1996, 14:285-291.
-
(1996)
Nat. Genet.
, vol.14
, pp. 285-291
-
-
Imbert, G.1
-
25
-
-
4344676312
-
Spinocerebellar ataxia type 2 with Levodopa-responsive parkinsonism culminating in motor neuron disease
-
Infante J., et al. Spinocerebellar ataxia type 2 with Levodopa-responsive parkinsonism culminating in motor neuron disease. Mov. Disord. 2004, 19:848-852.
-
(2004)
Mov. Disord.
, vol.19
, pp. 848-852
-
-
Infante, J.1
-
26
-
-
18944384702
-
Autosomal dominant cerebellar ataxias in Spain: molecular and clinical correlations, prevalence estimation and survival analysis
-
Infante J., et al. Autosomal dominant cerebellar ataxias in Spain: molecular and clinical correlations, prevalence estimation and survival analysis. Acta Neurol. Scand. 2005, 111:391-399.
-
(2005)
Acta Neurol. Scand.
, vol.111
, pp. 391-399
-
-
Infante, J.1
-
27
-
-
35348914402
-
Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism
-
Kim J.M., et al. Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism. Arch. Neurol. 2007, 64:1510-1518.
-
(2007)
Arch. Neurol.
, vol.64
, pp. 1510-1518
-
-
Kim, J.M.1
-
28
-
-
77956147372
-
Neurodegeneration: an expansion in ALS genetics
-
Lagier-Tourenne C., Cleveland D.W. Neurodegeneration: an expansion in ALS genetics. Nature 2010, 466:1052-1053.
-
(2010)
Nature
, vol.466
, pp. 1052-1053
-
-
Lagier-Tourenne, C.1
Cleveland, D.W.2
-
29
-
-
77953890823
-
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration
-
Lagier-Tourenne C., et al. TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration. Hum. Mol. Genet. 2010, 19:R46-R64.
-
(2010)
Hum. Mol. Genet.
, vol.19
-
-
Lagier-Tourenne, C.1
-
30
-
-
0034028691
-
Hereditary spastic paraplegia and hereditary ataxia, Part 2: a family demonstrating various phenotypic manifestations with the SCA3 genotype
-
Landau W.M., et al. Hereditary spastic paraplegia and hereditary ataxia, Part 2: a family demonstrating various phenotypic manifestations with the SCA3 genotype. Arch. Neurol. 2000, 57:733-739.
-
(2000)
Arch. Neurol.
, vol.57
, pp. 733-739
-
-
Landau, W.M.1
-
31
-
-
62949096408
-
Spinocerebellar ataxia 2 (SCA2)
-
Lastres-Becker I., et al. Spinocerebellar ataxia 2 (SCA2). Cerebellum 2008, 7:115-124.
-
(2008)
Cerebellum
, vol.7
, pp. 115-124
-
-
Lastres-Becker, I.1
-
32
-
-
0032585326
-
Absence of mutation in the beta- and gamma-synuclein genes in familial autosomal dominant Parkinson's disease
-
Lavedan C., et al. Absence of mutation in the beta- and gamma-synuclein genes in familial autosomal dominant Parkinson's disease. DNA Res. 1998, 5:401-402.
-
(1998)
DNA Res.
, vol.5
, pp. 401-402
-
-
Lavedan, C.1
-
33
-
-
79959652226
-
Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis
-
Lee T., et al. Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis. Neurology 2011, 76(24):2062-2065.
-
(2011)
Neurology
, vol.76
, Issue.24
, pp. 2062-2065
-
-
Lee, T.1
-
34
-
-
79953176451
-
Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients
-
Lee T., et al. Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. Hum. Mol. Genet. 2011, 20(9):1697-1700.
-
(2011)
Hum. Mol. Genet.
, vol.20
, Issue.9
, pp. 1697-1700
-
-
Lee, T.1
-
35
-
-
0032190090
-
The ubiquitin pathway in Parkinson's disease
-
Leroy E., et al. The ubiquitin pathway in Parkinson's disease. Nature 1998, 395:451-452.
-
(1998)
Nature
, vol.395
, pp. 451-452
-
-
Leroy, E.1
-
36
-
-
40149101562
-
Polyglutamine genes interact to modulate the severity and progression of neurodegeneration in Drosophila
-
Lessing D., Bonini N.M. Polyglutamine genes interact to modulate the severity and progression of neurodegeneration in Drosophila. PLoS Biol. 2008, 6:e29.
-
(2008)
PLoS Biol.
, vol.6
-
-
Lessing, D.1
Bonini, N.M.2
-
37
-
-
67349208839
-
Genome-wide association study of blood pressure and hypertension
-
Levy D., et al. Genome-wide association study of blood pressure and hypertension. Nat. Genet. 2009, 41:677-687.
-
(2009)
Nat. Genet.
, vol.41
, pp. 677-687
-
-
Levy, D.1
-
38
-
-
45749147456
-
RNA toxicity is a component of ataxin-3 degeneration in Drosophila
-
Li L.B., et al. RNA toxicity is a component of ataxin-3 degeneration in Drosophila. Nature 2008, 453:1107-1111.
-
(2008)
Nature
, vol.453
, pp. 1107-1111
-
-
Li, L.B.1
-
39
-
-
79960120604
-
Pre-motor signs of PD are related to SN hyperechogenicity assessed by TCS in an elderly population
-
Liepelt I., et al. Pre-motor signs of PD are related to SN hyperechogenicity assessed by TCS in an elderly population. Neurobiol. Aging 2009, 32(9):1599-1606.
-
(2009)
Neurobiol. Aging
, vol.32
, Issue.9
, pp. 1599-1606
-
-
Liepelt, I.1
-
40
-
-
0030047191
-
Analysis of CAG repeat of the Machado-Joseph gene in human, chimpanzee and monkey populations: a variant nucleotide is associated with the number of CAG repeats
-
Limprasert P., et al. Analysis of CAG repeat of the Machado-Joseph gene in human, chimpanzee and monkey populations: a variant nucleotide is associated with the number of CAG repeats. Hum. Mol. Genet. 1996, 5:207-213.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 207-213
-
-
Limprasert, P.1
-
41
-
-
33750362215
-
Genetic and DAT imaging studies of familial parkinsonism in a Taiwanese cohort
-
Lu C.S., et al. Genetic and DAT imaging studies of familial parkinsonism in a Taiwanese cohort. J. Neural Transm. Suppl. 2006, 235-240.
-
(2006)
J. Neural Transm. Suppl.
, pp. 235-240
-
-
Lu, C.S.1
-
42
-
-
0029047109
-
Correlation between CAG repeat length and clinical features in Machado-Joseph disease
-
Maciel P., et al. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am. J. Hum. Genet. 1995, 57:54-61.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 54-61
-
-
Maciel, P.1
-
43
-
-
80052604661
-
The Ataxin-2 protein is required for microRNA function and synapse-specific long-term olfactory habituation
-
Jul 27. [Epub ahead of print]
-
McCann C., et al. The Ataxin-2 protein is required for microRNA function and synapse-specific long-term olfactory habituation. Proc. Natl. Acad. Sci. U. S. A. 2011, Jul 27. [Epub ahead of print].
-
(2011)
Proc. Natl. Acad. Sci. U. S. A.
-
-
McCann, C.1
-
44
-
-
0037102710
-
Intranuclear inclusions, neuronal loss and CAG mosaicism in two patients with Machado-Joseph disease
-
Munoz E., et al. Intranuclear inclusions, neuronal loss and CAG mosaicism in two patients with Machado-Joseph disease. J. Neurol. Sci. 2002, 200:19-25.
-
(2002)
J. Neurol. Sci.
, vol.200
, pp. 19-25
-
-
Munoz, E.1
-
45
-
-
67349085063
-
Genome-wide association study identifies eight loci associated with blood pressure
-
Newton-Cheh C., et al. Genome-wide association study identifies eight loci associated with blood pressure. Nat. Genet. 2009, 41:666-676.
-
(2009)
Nat. Genet.
, vol.41
, pp. 666-676
-
-
Newton-Cheh, C.1
-
46
-
-
78649566546
-
Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene
-
Nolte D., et al. Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene. J. Neurol. Neurosurg. Psychiatry 2010, 81:1396-1399.
-
(2010)
J. Neurol. Neurosurg. Psychiatry
, vol.81
, pp. 1396-1399
-
-
Nolte, D.1
-
47
-
-
49549111127
-
Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking
-
Nonis D., et al. Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking. Cell. Signal. 2008, 20:1725-1739.
-
(2008)
Cell. Signal.
, vol.20
, pp. 1725-1739
-
-
Nonis, D.1
-
48
-
-
0024997225
-
Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba
-
Orozco Diaz G., et al. Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology 1990, 40:1369-1375.
-
(1990)
Neurology
, vol.40
, pp. 1369-1375
-
-
Orozco Diaz, G.1
-
49
-
-
12944270425
-
Identification of a novel 45 repeat unstable allele associated with a disease phenotype at the MJD1/SCA3 locus
-
Padiath Q.S., et al. Identification of a novel 45 repeat unstable allele associated with a disease phenotype at the MJD1/SCA3 locus. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2005, 133B:124-126.
-
(2005)
Am. J. Med. Genet. B Neuropsychiatr. Genet.
, vol.133 B
, pp. 124-126
-
-
Padiath, Q.S.1
-
50
-
-
0037732858
-
SCA2 may present as levodopa-responsive Parkinsonism
-
Payami H., et al. SCA2 may present as levodopa-responsive Parkinsonism. Mov. Disord. 2003, 18:425-429.
-
(2003)
Mov. Disord.
, vol.18
, pp. 425-429
-
-
Payami, H.1
-
51
-
-
47249092347
-
Machado-Joseph disease presenting as motor neuron disease
-
Pinto S., De Carvalho M. Machado-Joseph disease presenting as motor neuron disease. Amyotroph. Lateral Scler. 2008, 9:188-191.
-
(2008)
Amyotroph. Lateral Scler.
, vol.9
, pp. 188-191
-
-
Pinto, S.1
De Carvalho, M.2
-
52
-
-
33751011877
-
Predictive value of transcranial sonography in the diagnosis of Parkinson's disease
-
Prestel J., et al. Predictive value of transcranial sonography in the diagnosis of Parkinson's disease. Mov. Disord. 2006, 21:1763-1765.
-
(2006)
Mov. Disord.
, vol.21
, pp. 1763-1765
-
-
Prestel, J.1
-
53
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
Pulst S.M., et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat. Genet. 1996, 14:269-276.
-
(1996)
Nat. Genet.
, vol.14
, pp. 269-276
-
-
Pulst, S.M.1
-
54
-
-
12344317072
-
An integrative approach to gain insights into the cellular function of human ataxin-2
-
Ralser M., et al. An integrative approach to gain insights into the cellular function of human ataxin-2. J. Mol. Biol. 2005, 346:203-214.
-
(2005)
J. Mol. Biol.
, vol.346
, pp. 203-214
-
-
Ralser, M.1
-
55
-
-
26444552945
-
Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways
-
Ralser M., et al. Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways. Hum. Mol. Genet. 2005, 14:2893-2909.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 2893-2909
-
-
Ralser, M.1
-
56
-
-
0034177380
-
Central motor conduction to lower limb after transcranial magnetic stimulation in spinocerebellar ataxia type 2 (SCA2)
-
Restivo D.A., et al. Central motor conduction to lower limb after transcranial magnetic stimulation in spinocerebellar ataxia type 2 (SCA2). Clin. Neurophysiol. 2000, 111:630-635.
-
(2000)
Clin. Neurophysiol.
, vol.111
, pp. 630-635
-
-
Restivo, D.A.1
-
57
-
-
33244469696
-
Brisk deep-tendon reflexes as a distinctive phenotype in an Argentinean spinocerebellar ataxia type 2 pedigree
-
Rosa A.L., et al. Brisk deep-tendon reflexes as a distinctive phenotype in an Argentinean spinocerebellar ataxia type 2 pedigree. Mov. Disord. 2006, 21:66-68.
-
(2006)
Mov. Disord.
, vol.21
, pp. 66-68
-
-
Rosa, A.L.1
-
58
-
-
79960811611
-
Ataxin-2 repeat-length variation and neurodegeneration
-
Ross O.A., et al. Ataxin-2 repeat-length variation and neurodegeneration. Hum. Mol. Genet. 2011, 20(16):3207-3212.
-
(2011)
Hum. Mol. Genet.
, vol.20
, Issue.16
, pp. 3207-3212
-
-
Ross, O.A.1
-
59
-
-
0029091770
-
Sequence variation and size ranges of CAG repeats in the Machado-Joseph disease, spinocerebellar ataxia type 1 and androgen receptor genes
-
Rubinsztein D.C., et al. Sequence variation and size ranges of CAG repeats in the Machado-Joseph disease, spinocerebellar ataxia type 1 and androgen receptor genes. Hum. Mol. Genet. 1995, 4:1585-1590.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1585-1590
-
-
Rubinsztein, D.C.1
-
60
-
-
0030292368
-
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
-
Sanpei K., et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat. Genet. 1996, 14:277-284.
-
(1996)
Nat. Genet.
, vol.14
, pp. 277-284
-
-
Sanpei, K.1
-
61
-
-
33747884761
-
Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes
-
Satterfield T.F., Pallanck L.J. Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes. Hum. Mol. Genet. 2006, 15:2523-2532.
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 2523-2532
-
-
Satterfield, T.F.1
Pallanck, L.J.2
-
62
-
-
80053319759
-
Genetic signatures of exceptional longevity in humans
-
Sebastiani P., et al. Genetic signatures of exceptional longevity in humans. Science 2010, 333(6041):404.
-
(2010)
Science
, vol.333
, Issue.6041
, pp. 404
-
-
Sebastiani, P.1
-
63
-
-
77956183748
-
Axonal inclusions in spinocerebellar ataxia type 3
-
Seidel K., et al. Axonal inclusions in spinocerebellar ataxia type 3. Acta Neuropathol. 2010, 120:449-460.
-
(2010)
Acta Neuropathol.
, vol.120
, pp. 449-460
-
-
Seidel, K.1
-
64
-
-
0035199626
-
Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism
-
Shan D.E., et al. Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism. Ann. Neurol. 2001, 50:812-815.
-
(2001)
Ann. Neurol.
, vol.50
, pp. 812-815
-
-
Shan, D.E.1
-
65
-
-
0346361872
-
Genetic modifiers of tauopathy in Drosophila
-
Shulman J.M., Feany M.B. Genetic modifiers of tauopathy in Drosophila. Genetics 2003, 165:1233-1242.
-
(2003)
Genetics
, vol.165
, pp. 1233-1242
-
-
Shulman, J.M.1
Feany, M.B.2
-
66
-
-
13544270270
-
CAG repeats containing CAA interruptions form branched hairpin structures in spinocerebellar ataxia type 2 transcripts
-
Sobczak K., Krzyzosiak W.J. CAG repeats containing CAA interruptions form branched hairpin structures in spinocerebellar ataxia type 2 transcripts. J. Biol. Chem. 2005, 280:3898-3910.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 3898-3910
-
-
Sobczak, K.1
Krzyzosiak, W.J.2
-
67
-
-
67349277693
-
Intrafamilial variability of Parkinson phenotype in SCAs: novel cases due to SCA2 and SCA3 expansions
-
Socal M.P., et al. Intrafamilial variability of Parkinson phenotype in SCAs: novel cases due to SCA2 and SCA3 expansions. Parkinsonism Relat. Disord. 2009, 15:374-378.
-
(2009)
Parkinsonism Relat. Disord.
, vol.15
, pp. 374-378
-
-
Socal, M.P.1
-
68
-
-
79958763814
-
ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion
-
Soraru G., et al. ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion. Neurology 2011, 76:2030-2031.
-
(2011)
Neurology
, vol.76
, pp. 2030-2031
-
-
Soraru, G.1
-
69
-
-
69449084089
-
Rapamycin activation of 4E-BP prevents parkinsonian dopaminergic neuron loss
-
Tain L.S., et al. Rapamycin activation of 4E-BP prevents parkinsonian dopaminergic neuron loss. Nat. Neurosci. 2009, 12:1129-1135.
-
(2009)
Nat. Neurosci.
, vol.12
, pp. 1129-1135
-
-
Tain, L.S.1
-
70
-
-
69949174325
-
Selective occurrence of TDP-43-immunoreactive inclusions in the lower motor neurons in Machado-Joseph disease
-
Tan C.F., et al. Selective occurrence of TDP-43-immunoreactive inclusions in the lower motor neurons in Machado-Joseph disease. Acta Neuropathol. 2009, 118:553-560.
-
(2009)
Acta Neuropathol.
, vol.118
, pp. 553-560
-
-
Tan, C.F.1
-
71
-
-
79959653680
-
Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2
-
Van Damme P., et al. Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2. Neurology 2011, 76(24):2066-2072.
-
(2011)
Neurology
, vol.76
, Issue.24
, pp. 2066-2072
-
-
Van Damme, P.1
-
72
-
-
57449116963
-
Ataxin-2 associates with rough endoplasmic reticulum
-
van de Loo S., et al. Ataxin-2 associates with rough endoplasmic reticulum. Exp. Neurol. 2009, 215:110-118.
-
(2009)
Exp. Neurol.
, vol.215
, pp. 110-118
-
-
van de Loo, S.1
-
73
-
-
1442280313
-
Reduced striatal [123 I]FP-CIT binding in SCA2 patients without parkinsonism
-
Varrone A., et al. Reduced striatal [123 I]FP-CIT binding in SCA2 patients without parkinsonism. Ann. Neurol. 2004, 55:426-430.
-
(2004)
Ann. Neurol.
, vol.55
, pp. 426-430
-
-
Varrone, A.1
-
74
-
-
62949111940
-
Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin
-
Velazquez Perez L., et al. Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin. Neurosci. Lett. 2009, 454:157-160.
-
(2009)
Neurosci. Lett.
, vol.454
, pp. 157-160
-
-
Velazquez Perez, L.1
-
75
-
-
70450164020
-
Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: genetic, clinical, and positron emission tomography findings
-
Wang J.L., et al. Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: genetic, clinical, and positron emission tomography findings. Mov. Disord. 2009, 24:2007-2011.
-
(2009)
Mov. Disord.
, vol.24
, pp. 2007-2011
-
-
Wang, J.L.1
-
76
-
-
81955166850
-
Familial ALS patients with SOD mutations in Switzerland show very diverse phenotypes and extreme long survival
-
in press June 23. [Epub ahead of print].
-
Weber, M., in press. Familial ALS patients with SOD mutations in Switzerland show very diverse phenotypes and extreme long survival. J. Neurol. Neurosurg. Psychiatry. June 23. [Epub ahead of print].
-
J. Neurol. Neurosurg. Psychiatry.
-
-
Weber, M.1
-
77
-
-
0037461902
-
Ataxin-2 promotes apoptosis of human neuroblastoma cells
-
Wiedemeyer R., et al. Ataxin-2 promotes apoptosis of human neuroblastoma cells. Oncogene 2003, 22:401-411.
-
(2003)
Oncogene
, vol.22
, pp. 401-411
-
-
Wiedemeyer, R.1
-
78
-
-
4544319896
-
SCA2 presenting as levodopa-responsive parkinsonism in a young patient from the United Kingdom: a case report
-
Wilkins A., et al. SCA2 presenting as levodopa-responsive parkinsonism in a young patient from the United Kingdom: a case report. Mov. Disord. 2004, 19:593-595.
-
(2004)
Mov. Disord.
, vol.19
, pp. 593-595
-
-
Wilkins, A.1
-
79
-
-
77951768060
-
Genome-wide association study of intracranial aneurysm identifies three new risk loci
-
Yasuno K., et al. Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nat. Genet. 2010, 42:420-425.
-
(2010)
Nat. Genet.
, vol.42
, pp. 420-425
-
-
Yasuno, K.1
-
80
-
-
79953200132
-
PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats
-
Yu Z., et al. PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats. PLoS One 2011, 6:e17951.
-
(2011)
PLoS One
, vol.6
-
-
Yu, Z.1
|