-
1
-
-
0000834705
-
An attempt to classify cerebellar disease, with a note on Marie's hereditary cerebellar ataxia
-
Holmes G An attempt to classify cerebellar disease, with a note on Marie's hereditary cerebellar ataxia. Brain 1907, 30:545-567.
-
(1907)
Brain
, vol.30
, pp. 545-567
-
-
Holmes, G.1
-
2
-
-
0020641096
-
Classification of the hereditary ataxias and paraplegias
-
Harding AE Classification of the hereditary ataxias and paraplegias. Lancet 1983, 1:1151-1155.
-
(1983)
Lancet
, vol.1
, pp. 1151-1155
-
-
Harding, A.E.1
-
3
-
-
0002066294
-
Agenesis or hypoplasia of cerebellar structures
-
Macchi G, Bentivoglio M Agenesis or hypoplasia of cerebellar structures. Handbook Clin Neurol 1987, 50:175-196.
-
(1987)
Handbook Clin Neurol
, vol.50
, pp. 175-196
-
-
Macchi, G.1
Bentivoglio, M.2
-
4
-
-
0028117126
-
Cerebellar agenesis
-
Glickstein M Cerebellar agenesis. Brain 1994, 117:1209-1212.
-
(1994)
Brain
, vol.117
, pp. 1209-1212
-
-
Glickstein, M.1
-
5
-
-
27744518340
-
Genetic basis of Joubert syndrome and related disorders of cerebellar development
-
Louie CM, Gleeson JG Genetic basis of Joubert syndrome and related disorders of cerebellar development. Hum Mol Genet 2005, 14(Spec No. 2):R235-R242.
-
(2005)
Hum Mol Genet
, vol.14
, Issue.SPEC NO 2
-
-
Louie, C.M.1
Gleeson, J.G.2
-
6
-
-
0014572497
-
Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation
-
Joubert M, Eisenring JJ, Robb JP, Andermann F Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 1969, 19:813-825.
-
(1969)
Neurology
, vol.19
, pp. 813-825
-
-
Joubert, M.1
Eisenring, J.J.2
Robb, J.P.3
Andermann, F.4
-
7
-
-
0018936531
-
Human cerebellar hypoplasia: A syndrome of diverse causes
-
Sarnat HB, Alcala H Human cerebellar hypoplasia: A syndrome of diverse causes. Arch Neurol 1980, 37:300-305.
-
(1980)
Arch Neurol
, vol.37
, pp. 300-305
-
-
Sarnat, H.B.1
Alcala, H.2
-
8
-
-
0028044612
-
MRI in cerebellar hypoplasia
-
deSouza N, Chaudhuri R, Bingham J, Cox T MRI in cerebellar hypoplasia. Neuroradiology 1994, 36:148-151.
-
(1994)
Neuroradiology
, vol.36
, pp. 148-151
-
-
deSouza, N.1
Chaudhuri, R.2
Bingham, J.3
Cox, T.4
-
9
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V, Montermini L, Moltò MD, et al. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996, 271:1423-1427.
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Moltò, M.D.3
-
10
-
-
12144274441
-
Assembly of human frataxin is a mechanism for detoxifying redox-active iron
-
O'Neill HA, Gakh O, Park S, et al. Assembly of human frataxin is a mechanism for detoxifying redox-active iron. Biochemistry 2005, 44(2):537-545.
-
(2005)
Biochemistry
, vol.44
, Issue.2
, pp. 537-545
-
-
O'Neill, H.A.1
Gakh, O.2
Park, S.3
-
11
-
-
0031253821
-
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
-
Rotig A, De Lonlay P, Chretien D, et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet 1997, 17(2):215-217.
-
(1997)
Nat Genet
, vol.17
, Issue.2
, pp. 215-217
-
-
Rotig, A.1
De Lonlay, P.2
Chretien, D.3
-
12
-
-
0029821176
-
Clinical and genetic abnormalities in patients with Friedreich's ataxia
-
Dürr A, Cossee M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996, 335(16):1169-1175.
-
(1996)
N Engl J Med
, vol.335
, Issue.16
, pp. 1169-1175
-
-
Dürr, A.1
Cossee, M.2
Agid, Y.3
-
13
-
-
0027405101
-
Magnetic resonance imaging in hereditary and idiopathic ataxia
-
Wüllner U, Klockgether T, Petersen D, Naegele T, Dichgans J Magnetic resonance imaging in hereditary and idiopathic ataxia. Neurology 1993, 43:318-325.
-
(1993)
Neurology
, vol.43
, pp. 318-325
-
-
Wüllner, U.1
Klockgether, T.2
Petersen, D.3
Naegele, T.4
Dichgans, J.5
-
14
-
-
0037849955
-
Idebenone treatment in Friedreich patients: One-year-long randomized placebo-controlled trial
-
Mariotti C, Solari A, Torta D, et al. Idebenone treatment in Friedreich patients: One-year-long randomized placebo-controlled trial. Neurology 2003, 60(10):1676-1679.
-
(2003)
Neurology
, vol.60
, Issue.10
, pp. 1676-1679
-
-
Mariotti, C.1
Solari, A.2
Torta, D.3
-
15
-
-
2542495194
-
Aprataxin mutations are a rare cause of early onset ataxia in Germany
-
Habeck M, Zuhlke C, Bentele KH, et al. Aprataxin mutations are a rare cause of early onset ataxia in Germany. J Neurol 2004, 251(5):591-594.
-
(2004)
J Neurol
, vol.251
, Issue.5
, pp. 591-594
-
-
Habeck, M.1
Zuhlke, C.2
Bentele, K.H.3
-
16
-
-
0034785531
-
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin
-
Moreira MC, Barbot C, Tachi N, et al. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nat Genet 2001, 29(2):189-193.
-
(2001)
Nat Genet
, vol.29
, Issue.2
, pp. 189-193
-
-
Moreira, M.C.1
Barbot, C.2
Tachi, N.3
-
17
-
-
0034790947
-
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene
-
Date H, Onodera O, Tanaka H, et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nat Genet 2001, 29(2):184-188.
-
(2001)
Nat Genet
, vol.29
, Issue.2
, pp. 184-188
-
-
Date, H.1
Onodera, O.2
Tanaka, H.3
-
18
-
-
10744228698
-
Aprataxin, the causative protein for EAOH, is a nuclear protein with a potential role as a DNA repair protein
-
Sano Y, Date H, Igarashi S, et al. Aprataxin, the causative protein for EAOH, is a nuclear protein with a potential role as a DNA repair protein. Ann Neurol 2004, 55(2):241-249.
-
(2004)
Ann Neurol
, vol.55
, Issue.2
, pp. 241-249
-
-
Sano, Y.1
Date, H.2
Igarashi, S.3
-
19
-
-
13244277454
-
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation
-
Quinzii CM, Kattah AG, Naini A, et al. Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology 2005, 64(3):539-541.
-
(2005)
Neurology
, vol.64
, Issue.3
, pp. 539-541
-
-
Quinzii, C.M.1
Kattah, A.G.2
Naini, A.3
-
20
-
-
0344875066
-
Cerebellar ataxia with oculomotor apraxia type 1: Clinical and genetic studies
-
Le BI, Moreira MC, Rivaud-Pechoux S, et al. Cerebellar ataxia with oculomotor apraxia type 1: Clinical and genetic studies. Brain 2003, 126:2761-2772.
-
(2003)
Brain
, vol.126
, pp. 2761-2772
-
-
Le, B.I.1
Moreira, M.C.2
Rivaud-Pechoux, S.3
-
21
-
-
10744230604
-
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
-
Moreira MC, Klur S, Watanabe M, et al. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet 2004, 36(3):225-227.
-
(2004)
Nat Genet
, vol.36
, Issue.3
, pp. 225-227
-
-
Moreira, M.C.1
Klur, S.2
Watanabe, M.3
-
22
-
-
11144355513
-
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: A clinical and genetic study in 18 patients
-
Le Ber I, Bouslam N, Rivaud-Pechoux S, et al. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: A clinical and genetic study in 18 patients. Brain 2004, 127(Pt 4):759-767.
-
(2004)
Brain
, vol.127
, Issue.PART 4
, pp. 759-767
-
-
Le Ber, I.1
Bouslam, N.2
Rivaud-Pechoux, S.3
-
23
-
-
20044374998
-
Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy
-
Duquette A, Roddier K, McNabb-Baltar J, et al. Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. Ann Neurol 2005, 57(3):408-414.
-
(2005)
Ann Neurol
, vol.57
, Issue.3
, pp. 408-414
-
-
Duquette, A.1
Roddier, K.2
McNabb-Baltar, J.3
-
24
-
-
18644386254
-
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy
-
Takashima H, Boerkoel CF, John J, et al. Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet 2002, 32(2):267-272.
-
(2002)
Nat Genet
, vol.32
, Issue.2
, pp. 267-272
-
-
Takashima, H.1
Boerkoel, C.F.2
John, J.3
-
25
-
-
0343384355
-
ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF
-
Engert JC, Berube P, Mercier J, et al. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 2000, 24(2):120-125.
-
(2000)
Nat Genet
, vol.24
, Issue.2
, pp. 120-125
-
-
Engert, J.C.1
Berube, P.2
Mercier, J.3
-
26
-
-
0027428820
-
Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia
-
Sharp D, Blinderman L, Combs KA, et al. Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia. Nature 1993, 365(6441):65-69.
-
(1993)
Nature
, vol.365
, Issue.6441
, pp. 65-69
-
-
Sharp, D.1
Blinderman, L.2
Combs, K.A.3
-
27
-
-
0028876572
-
Ataxia with isolated vitamin E deficiency is caused by mutations in the α-tocopherol transfer protein
-
Ouahchi K, Arita M, Kayden H, et al. Ataxia with isolated vitamin E deficiency is caused by mutations in the α-tocopherol transfer protein. Nat Genet 1995, 9:141-145.
-
(1995)
Nat Genet
, vol.9
, pp. 141-145
-
-
Ouahchi, K.1
Arita, M.2
Kayden, H.3
-
28
-
-
84984777129
-
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene
-
Jansen GA, Ofman R, Ferdinandusse S, et al. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat Genet 1997, 17(2):190-193.
-
(1997)
Nat Genet
, vol.17
, Issue.2
, pp. 190-193
-
-
Jansen, G.A.1
Ofman, R.2
Ferdinandusse, S.3
-
29
-
-
0027208973
-
Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin
-
Leitersdorf E, Reshef A, Meiner V, et al. Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin. J Clin Invest 1993, 91(6):2488-2496.
-
(1993)
J Clin Invest
, vol.91
, Issue.6
, pp. 2488-2496
-
-
Leitersdorf, E.1
Reshef, A.2
Meiner, V.3
-
30
-
-
28444497039
-
Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy
-
Senderek J, Krieger M, Stendel C, et al. Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet 2005, 37(12):1312-1314.
-
(2005)
Nat Genet
, vol.37
, Issue.12
, pp. 1312-1314
-
-
Senderek, J.1
Krieger, M.2
Stendel, C.3
-
31
-
-
0034513418
-
Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23
-
Bomont P, Watanabe M, Gershoni Barush R, et al. Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. Eur J Hum Genet 2000, 8(12):986-990.
-
(2000)
Eur J Hum Genet
, vol.8
, Issue.12
, pp. 986-990
-
-
Bomont, P.1
Watanabe, M.2
Gershoni Barush, R.3
-
32
-
-
0032569825
-
Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): Neuropathological features
-
Lonnqvist T, Paetau A, Nikali K, von Boguslawski K, Pihko H Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): Neuropathological features. J Neurol Sci 1998, 161(1):57-65.
-
(1998)
J Neurol Sci
, vol.161
, Issue.1
, pp. 57-65
-
-
Lonnqvist, T.1
Paetau, A.2
Nikali, K.3
von Boguslawski, K.4
Pihko, H.5
-
33
-
-
0025775734
-
Early onset cerebellar ataxia with retained tendon reflexes. Clinical, electrophysiological and MRI observations in comparison with Friedreich's ataxia
-
Klockgether T, Petersen D, Grodd W, Dichgans J Early onset cerebellar ataxia with retained tendon reflexes. Clinical, electrophysiological and MRI observations in comparison with Friedreich's ataxia. Brain 1991, 114:1559-1573.
-
(1991)
Brain
, vol.114
, pp. 1559-1573
-
-
Klockgether, T.1
Petersen, D.2
Grodd, W.3
Dichgans, J.4
-
34
-
-
0343850944
-
Familial cerebellar ataxia and hypogonadism
-
Matthews WB, Rundle AT Familial cerebellar ataxia and hypogonadism. Brain 1964, 87:463-468.
-
(1964)
Brain
, vol.87
, pp. 463-468
-
-
Matthews, W.B.1
Rundle, A.T.2
-
35
-
-
0037384643
-
Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates
-
Jacquemont S, Hagerman RJ, Leehey M, et al. Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates. Am J Hum Genet 2003, 72(4):869-878.
-
(2003)
Am J Hum Genet
, vol.72
, Issue.4
, pp. 869-878
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.3
-
36
-
-
4544347583
-
The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy
-
Moore CJ, Daly EM, Tassone F, et al. The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy. Brain 2004, 127(Pt 12):2672-2681.
-
(2004)
Brain
, vol.127
, Issue.PART 12
, pp. 2672-2681
-
-
Moore, C.J.1
Daly, E.M.2
Tassone, F.3
-
37
-
-
9144252520
-
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population
-
Jacquemont S, Hagerman RJ, Leehey MA, et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 2004, 291(4):460-469.
-
(2004)
JAMA
, vol.291
, Issue.4
, pp. 460-469
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.A.3
-
38
-
-
0038281167
-
Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia
-
Macpherson J, Waghorn A, Hammans S, Jacobs P Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia. Hum Genet 2003, 112(5-6):619-620.
-
(2003)
Hum Genet
, vol.112
, Issue.5-6
, pp. 619-620
-
-
Macpherson, J.1
Waghorn, A.2
Hammans, S.3
Jacobs, P.4
-
39
-
-
11144356369
-
Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis
-
Schols L, Bauer P, Schmidt T, Schulte T, Riess O Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis. Lancet Neurol 2004, 3(5):291-304.
-
(2004)
Lancet Neurol
, vol.3
, Issue.5
, pp. 291-304
-
-
Schols, L.1
Bauer, P.2
Schmidt, T.3
Schulte, T.4
Riess, O.5
-
40
-
-
16344388976
-
Age at onset variance analysis in spinocerebellar ataxias: A study in a Dutch-French cohort
-
van de Warrenburg BP, Hendriks H, Durr A, et al. Age at onset variance analysis in spinocerebellar ataxias: A study in a Dutch-French cohort. Ann Neurol 2005, 57(4):505-512.
-
(2005)
Ann Neurol
, vol.57
, Issue.4
, pp. 505-512
-
-
van de Warrenburg, B.P.1
Hendriks, H.2
Durr, A.3
-
41
-
-
3042717240
-
Cellular toxicity of polyglutamine expansion proteins: Mechanism of transcription factor deactivation
-
Schaffar G, Breuer P, Boteva R, et al. Cellular toxicity of polyglutamine expansion proteins: Mechanism of transcription factor deactivation. Mol Cell 2004, 15(1):95-105.
-
(2004)
Mol Cell
, vol.15
, Issue.1
, pp. 95-105
-
-
Schaffar, G.1
Breuer, P.2
Boteva, R.3
-
42
-
-
0035393427
-
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
-
Nakamura K, Jeong SY, Uchihara T, et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 2001, 10(14):1441-1448.
-
(2001)
Hum Mol Genet
, vol.10
, Issue.14
, pp. 1441-1448
-
-
Nakamura, K.1
Jeong, S.Y.2
Uchihara, T.3
-
43
-
-
0031647246
-
Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families
-
Moseley ML, Benzow KA, Schut LJ, et al. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. Neurology 1998, 51(6):1666-1671.
-
(1998)
Neurology
, vol.51
, Issue.6
, pp. 1666-1671
-
-
Moseley, M.L.1
Benzow, K.A.2
Schut, L.J.3
-
44
-
-
8544235014
-
SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene
-
Riess O, Schöls L, Bottger H, et al. SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene. Hum Mol Genet 1997, 6(8):1289-1293.
-
(1997)
Hum Mol Genet
, vol.6
, Issue.8
, pp. 1289-1293
-
-
Riess, O.1
Schöls, L.2
Bottger, H.3
-
45
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr HT, Chung MY, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993, 4:221-226.
-
(1993)
Nat Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.Y.2
Banfi, S.3
-
46
-
-
23944438950
-
The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins
-
Tsuda H, Jafar-Nejad H, Patel AJ, et al. The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins. Cell 2005, 122(4):633-644.
-
(2005)
Cell
, vol.122
, Issue.4
, pp. 633-644
-
-
Tsuda, H.1
Jafar-Nejad, H.2
Patel, A.J.3
-
47
-
-
0028819081
-
n expansion and early premonitory signs and symptoms
-
n expansion and early premonitory signs and symptoms. Neurology 1995, 45:24-30.
-
(1995)
Neurology
, vol.45
, pp. 24-30
-
-
Genis, D.1
Matilla, T.2
Volpini, V.3
-
48
-
-
0028877774
-
Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations
-
Dubourg O, Dürr A, Cancel G, et al. Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations. Ann Neurol 1995, 37:176-180.
-
(1995)
Ann Neurol
, vol.37
, pp. 176-180
-
-
Dubourg, O.1
Dürr, A.2
Cancel, G.3
-
49
-
-
2642686623
-
Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3
-
Abele M, Bürk K, Andres F, et al. Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3. Brain 1997, 120(Pt 12):2141-2148.
-
(1997)
Brain
, vol.120
, Issue.PART 12
, pp. 2141-2148
-
-
Abele, M.1
Bürk, K.2
Andres, F.3
-
50
-
-
0031683168
-
Autosomal dominant cerebellar ataxia type I. MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3
-
Klockgether T, Skalej M, Wedekind D, et al. Autosomal dominant cerebellar ataxia type I. MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3. Brain 1998, 121(Pt 9):1687-1693.
-
(1998)
Brain
, vol.121
, Issue.PART 9
, pp. 1687-1693
-
-
Klockgether, T.1
Skalej, M.2
Wedekind, D.3
-
51
-
-
6844236985
-
The natural history of degenerative ataxia: A retrospective study in 466 patients
-
Klockgether T, Lüdtke R, Kramer B, et al. The natural history of degenerative ataxia: A retrospective study in 466 patients. Brain 1998, 121(Pt 4):589-600.
-
(1998)
Brain
, vol.121
, Issue.PART 4
, pp. 589-600
-
-
Klockgether, T.1
Lüdtke, R.2
Kramer, B.3
-
52
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
Pulst SM, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996, 14(3):269-276.
-
(1996)
Nat Genet
, vol.14
, Issue.3
, pp. 269-276
-
-
Pulst, S.M.1
Nechiporuk, A.2
Nechiporuk, T.3
-
53
-
-
0024997225
-
Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba
-
Orozco-Diaz G, Nodarse-Fleites A, Cordoves-Sagaz R, Auburger G 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
Nodarse-Fleites, A.2
Cordoves-Sagaz, R.3
Auburger, G.4
-
54
-
-
15444348424
-
Spinocerebellar ataxia type 2-Genotype and phenotype in German kindreds
-
Schöls L, Gispert S, Vorgerd M, et al. Spinocerebellar ataxia type 2-Genotype and phenotype in German kindreds. Arch Neurol 1997, 54(9):1073-1080.
-
(1997)
Arch Neurol
, vol.54
, Issue.9
, pp. 1073-1080
-
-
Schöls, L.1
Gispert, S.2
Vorgerd, M.3
-
55
-
-
31044441422
-
[11C] d-threo-methylphenidate PET in patients with Parkinson's disease and essential tremor
-
Breit S, Reimold M, Reischl G, Klockgether T, Wullner U [11C] d-threo-methylphenidate PET in patients with Parkinson's disease and essential tremor. J Neural Transm 2005, 113(2):187-193.
-
(2005)
J Neural Transm
, vol.113
, Issue.2
, pp. 187-193
-
-
Breit, S.1
Reimold, M.2
Reischl, G.3
Klockgether, T.4
Wullner, U.5
-
56
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994, 8:221-228.
-
(1994)
Nat Genet
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
-
57
-
-
0026708036
-
Machado-Joseph disease: An autosomal dominant motor system degeneration
-
Rosenberg RN Machado-Joseph disease: An autosomal dominant motor system degeneration. Mov Disord 1992, 7:193-203.
-
(1992)
Mov Disord
, vol.7
, pp. 193-203
-
-
Rosenberg, R.N.1
-
58
-
-
0035125109
-
Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study
-
Gaspar C, Lopes Cendes I, Hayes S, et al. Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study. Am J Hum Genet 2001, 68(2):523-528.
-
(2001)
Am J Hum Genet
, vol.68
, Issue.2
, pp. 523-528
-
-
Gaspar, C.1
Lopes Cendes, I.2
Hayes, S.3
-
59
-
-
15944419824
-
Ataxin-3 suppresses polyglutamine neurodegeneration in Drosophila by a ubiquitin-associated mechanism
-
Warrick JM, Morabito LM, Bilen J, et al. Ataxin-3 suppresses polyglutamine neurodegeneration in Drosophila by a ubiquitin-associated mechanism. Mol Cell 2005, 18(1):37-48.
-
(2005)
Mol Cell
, vol.18
, Issue.1
, pp. 37-48
-
-
Warrick, J.M.1
Morabito, L.M.2
Bilen, J.3
-
60
-
-
0029047109
-
Correlation between CAG repeat length and clinical features in Machado-Joseph disease
-
Maciel P, Gaspar C, DeStefano AL, 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
Gaspar, C.2
DeStefano, A.L.3
-
61
-
-
9244225693
-
Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular, and neuropathological features
-
Dürr A, Stevanin G, Cancel G, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular, and neuropathological features. Ann Neurol 1996, 39:490-499.
-
(1996)
Ann Neurol
, vol.39
, pp. 490-499
-
-
Dürr, A.1
Stevanin, G.2
Cancel, G.3
-
63
-
-
8544255538
-
Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)
-
Matsuyama Z, Kawakami H, Maruyama H, et al. Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6). Hum Mol Genet 1997, 6(8):1283-1287.
-
(1997)
Hum Mol Genet
, vol.6
, Issue.8
, pp. 1283-1287
-
-
Matsuyama, Z.1
Kawakami, H.2
Maruyama, H.3
-
64
-
-
0032769095
-
Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6
-
Ishikawa K, Fujigasaki H, Saegusa H, et al. Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6. Hum Mol Genet 1999, 8(7):1185-1193.
-
(1999)
Hum Mol Genet
, vol.8
, Issue.7
, pp. 1185-1193
-
-
Ishikawa, K.1
Fujigasaki, H.2
Saegusa, H.3
-
65
-
-
16944364511
-
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
-
David G, Abbas N, Stevanin G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997, 17(1):65-70.
-
(1997)
Nat Genet
, vol.17
, Issue.1
, pp. 65-70
-
-
David, G.1
Abbas, N.2
Stevanin, G.3
-
66
-
-
20844444637
-
Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration
-
Palhan VB, Chen S, Peng GH, et al. Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration. Proc Natl Acad Sci USA 2005, 102(24):8472-8477.
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, Issue.24
, pp. 8472-8477
-
-
Palhan, V.B.1
Chen, S.2
Peng, G.H.3
-
67
-
-
0028304397
-
Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families
-
Enevoldson TP, Sanders MD, Harding AE Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families. Brain 1994, 117:445-460.
-
(1994)
Brain
, vol.117
, pp. 445-460
-
-
Enevoldson, T.P.1
Sanders, M.D.2
Harding, A.E.3
-
68
-
-
0042837890
-
Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)
-
Rolfs A, Koeppen AH, Bauer I, et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 2003, 54(3):367-375.
-
(2003)
Ann Neurol
, vol.54
, Issue.3
, pp. 367-375
-
-
Rolfs, A.1
Koeppen, A.H.2
Bauer, I.3
-
69
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
-
Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 1994, 6:9-13.
-
(1994)
Nat Genet
, vol.6
, pp. 9-13
-
-
Koide, R.1
Ikeuchi, T.2
Onodera, O.3
-
70
-
-
0028169738
-
The Haw River syndrome: Dentatorubropallidoluysian atrophy (DRPLA) in an African-American family
-
Burke JR, Wingfield MS, Lewis KE, et al. The Haw River syndrome: Dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nat Genet 1994, 7:521-524.
-
(1994)
Nat Genet
, vol.7
, pp. 521-524
-
-
Burke, J.R.1
Wingfield, M.S.2
Lewis, K.E.3
-
71
-
-
0029044667
-
Dentatorubral-pallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat
-
Ikeuchi T, Koide R, Tanaka H, et al. Dentatorubral-pallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann Neurol 1995, 37(6):769-775.
-
(1995)
Ann Neurol
, vol.37
, Issue.6
, pp. 769-775
-
-
Ikeuchi, T.1
Koide, R.2
Tanaka, H.3
-
72
-
-
0028153392
-
High-intensity proton and T2-weighted MRI signals in the globus pallidus in juvenile-type of dentatorubral and pallidoluysian atrophy
-
Imamura A, Ito R, Tanaka S, et al. High-intensity proton and T2-weighted MRI signals in the globus pallidus in juvenile-type of dentatorubral and pallidoluysian atrophy. Neuropediatrics 1994, 25:234-237.
-
(1994)
Neuropediatrics
, vol.25
, pp. 234-237
-
-
Imamura, A.1
Ito, R.2
Tanaka, S.3
-
73
-
-
0028124225
-
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
-
Browne DL, Gancher ST, Nutt JG, et al. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet 1994, 8:136-140.
-
(1994)
Nat Genet
, vol.8
, pp. 136-140
-
-
Browne, D.L.1
Gancher, S.T.2
Nutt, J.G.3
-
74
-
-
0025006108
-
Familial paroxysmal kinesigenic ataxia and continuous myokymia
-
Brunt ER, van-Weerden TW Familial paroxysmal kinesigenic ataxia and continuous myokymia. Brain 1990, 113:1361-1382.
-
(1990)
Brain
, vol.113
, pp. 1361-1382
-
-
Brunt, E.R.1
van-Weerden, T.W.2
-
76
-
-
0347722572
-
Clinical spectrum of episodic ataxia type 2
-
Jen J, Kim GW, Baloh RW Clinical spectrum of episodic ataxia type 2. Neurology 2004, 62(1):17-22.
-
(2004)
Neurology
, vol.62
, Issue.1
, pp. 17-22
-
-
Jen, J.1
Kim, G.W.2
Baloh, R.W.3
-
77
-
-
0023886345
-
Magnetic resonance imaging in familial paroxysmal ataxia
-
Vighetto A, Froment JC, Trillet M, Aimard G Magnetic resonance imaging in familial paroxysmal ataxia. Arch Neurol 1988, 45:547-549.
-
(1988)
Arch Neurol
, vol.45
, pp. 547-549
-
-
Vighetto, A.1
Froment, J.C.2
Trillet, M.3
Aimard, G.4
-
78
-
-
0018122266
-
Hereditary paroxysmal ataxia: Response to acetazolamide
-
Griggs RC, Moxley RT, Lafrance RA, McQuillen J Hereditary paroxysmal ataxia: Response to acetazolamide. Neurology 1978, 28:1259-1264.
-
(1978)
Neurology
, vol.28
, pp. 1259-1264
-
-
Griggs, R.C.1
Moxley, R.T.2
Lafrance, R.A.3
McQuillen, J.4
-
79
-
-
0033081705
-
Consensus statement on the diagnosis of multiple system atrophy
-
Gilman S, Low PA, Quinn N, et al. Consensus statement on the diagnosis of multiple system atrophy. J Neurol Sci 1999, 163(1):94-98.
-
(1999)
J Neurol Sci
, vol.163
, Issue.1
, pp. 94-98
-
-
Gilman, S.1
Low, P.A.2
Quinn, N.3
-
80
-
-
0030986997
-
Multiple system atrophy: A review of 203 pathologically proven cases
-
Wenning GK, Tison F, Ben Shlomo Y, Daniel SE, Quinn NP Multiple system atrophy: A review of 203 pathologically proven cases. Mov Disord 1997, 12(2):133-147.
-
(1997)
Mov Disord
, vol.12
, Issue.2
, pp. 133-147
-
-
Wenning, G.K.1
Tison, F.2
Ben Shlomo, Y.3
Daniel, S.E.4
Quinn, N.P.5
-
81
-
-
0033589692
-
Prevalence of progressive supranuclear palsy and multiple system atrophy: A cross-sectional study
-
Schrag A, Ben Shlomo Y, Quinn NP Prevalence of progressive supranuclear palsy and multiple system atrophy: A cross-sectional study. Lancet 1999, 354(9192):1771-1775.
-
(1999)
Lancet
, vol.354
, Issue.9192
, pp. 1771-1775
-
-
Schrag, A.1
Ben Shlomo, Y.2
Quinn, N.P.3
-
82
-
-
0028659025
-
Multiple system atrophy: Natural history, MRI morphology, and dopamine receptor imaging with 123IBZM-SPECT
-
Schulz JB, Klockgether T, Petersen D, et al. Multiple system atrophy: Natural history, MRI morphology, and dopamine receptor imaging with 123IBZM-SPECT. J Neurol Neurosurg Psychiatr 1994, 57:1047-1056.
-
(1994)
J Neurol Neurosurg Psychiatr
, vol.57
, pp. 1047-1056
-
-
Schulz, J.B.1
Klockgether, T.2
Petersen, D.3
-
83
-
-
0027930620
-
Clinical features and natural history of multiple system atrophy. An analysis of 100 cases
-
Wenning GK, Ben Shlomo Y, Magalhaes M, Daniel SE, Quinn NP Clinical features and natural history of multiple system atrophy. An analysis of 100 cases. Brain 1994, 117:835-845.
-
(1994)
Brain
, vol.117
, pp. 835-845
-
-
Wenning, G.K.1
Ben Shlomo, Y.2
Magalhaes, M.3
Daniel, S.E.4
Quinn, N.P.5
-
84
-
-
0031813412
-
Clinical usefulness of magnetic resonance imaging in multiple system atrophy
-
Schrag A, Kingsley YD, Phatouros C, et al. Clinical usefulness of magnetic resonance imaging in multiple system atrophy. J Neurol Neurosurg Psychiatr 1998, 65(1):65-71.
-
(1998)
J Neurol Neurosurg Psychiatr
, vol.65
, Issue.1
, pp. 65-71
-
-
Schrag, A.1
Kingsley, Y.D.2
Phatouros, C.3
-
85
-
-
3442875652
-
Population based study of late onset cerebellar ataxia in south east Wales
-
Muzaimi MB, Thomas J, Palmer-Smith S, et al. Population based study of late onset cerebellar ataxia in south east Wales. J Neurol Neurosurg Psychiatr 2004, 75(8):1129-1134.
-
(2004)
J Neurol Neurosurg Psychiatr
, vol.75
, Issue.8
, pp. 1129-1134
-
-
Muzaimi, M.B.1
Thomas, J.2
Palmer-Smith, S.3
-
86
-
-
0036238233
-
The aetiology of sporadic adult-onset ataxia
-
Abele M, Burk K, Schols L, et al. The aetiology of sporadic adult-onset ataxia. Brain 2002, 125(Pt 5):961-968.
-
(2002)
Brain
, vol.125
, Issue.PART 5
, pp. 961-968
-
-
Abele, M.1
Burk, K.2
Schols, L.3
-
87
-
-
25844487226
-
Diseases of unstable repeat expansion: Mechanisms and common principles
-
Gatchel JR, Zoghbi HY Diseases of unstable repeat expansion: Mechanisms and common principles. Nat Rev Genet 2005, 6:743-755.
-
(2005)
Nat Rev Genet
, vol.6
, pp. 743-755
-
-
Gatchel, J.R.1
Zoghbi, H.Y.2
-
89
-
-
33745659239
-
Measuring Friedreich ataxia: Complementary features of examination and performance measures
-
Lynch DR, Farmer JM, Tsou AY, et al. Measuring Friedreich ataxia: Complementary features of examination and performance measures. Neurology 2006, 66:1711-1716.
-
(2006)
Neurology
, vol.66
, pp. 1711-1716
-
-
Lynch, D.R.1
Farmer, J.M.2
Tsou, A.Y.3
-
90
-
-
0036940427
-
The molecular basis of Friedreich ataxia
-
Pandolfo M The molecular basis of Friedreich ataxia. Adv Exp Med Biol 2002, 516:99-118.
-
(2002)
Adv Exp Med Biol
, vol.516
, pp. 99-118
-
-
Pandolfo, M.1
-
91
-
-
33745677486
-
Scale for the assessment and rating of ataxia: Development of a new clinical scale
-
Schmitz-Hübsch T, Tezenas du Montcel S, Baliko L, et al. Scale for the assessment and rating of ataxia: Development of a new clinical scale. Neurology 2006, 66:1717-1720.
-
(2006)
Neurology
, vol.66
, pp. 1717-1720
-
-
Schmitz-Hübsch, T.1
Tezenas du Montcel, S.2
Baliko, L.3
-
92
-
-
11144356369
-
Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis
-
Schöls L, Bauer P, Schmidt T, Schulte T, Riess O Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis. Lancet Neurol 2004, 3:291-304.
-
(2004)
Lancet Neurol
, vol.3
, pp. 291-304
-
-
Schöls, L.1
Bauer, P.2
Schmidt, T.3
Schulte, T.4
Riess, O.5
-
93
-
-
0034435065
-
Inherited ion channel disorders
-
Surtees R Inherited ion channel disorders. Eur J Pediatr 2000, 159(Suppl 3):S199-S203.
-
(2000)
Eur J Pediatr
, vol.159
, Issue.SUPPL 3
-
-
Surtees, R.1
-
94
-
-
3543031667
-
Pathways to motor incoordination: The inherited ataxias
-
Taroni F, DiDonato S Pathways to motor incoordination: The inherited ataxias. Nat Rev Neurosci 2004, 5:641-655.
-
(2004)
Nat Rev Neurosci
, vol.5
, pp. 641-655
-
-
Taroni, F.1
DiDonato, S.2
-
95
-
-
0035038527
-
Multiple system atrophy
-
Wenning GK, Seppi K, Scherfler C, Stefanova N, Puschban Z Multiple system atrophy. Semin Neurol 2001, 21:33-40.
-
(2001)
Semin Neurol
, vol.21
, pp. 33-40
-
-
Wenning, G.K.1
Seppi, K.2
Scherfler, C.3
Stefanova, N.4
Puschban, Z.5
|