-
2
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
Pulst MS, Nechiporuk A, Nechiporuk T, 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, M.S.1
Nechiporuk, A.2
Nechiporuk, T.3
-
4
-
-
62949111940
-
Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2 founder effect in Holguin
-
Velázquez Pérez L, Cruz GS, Santos Falcón N, 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
-
-
Velázquez Pérez, L.1
Cruz, G.S.2
Santos Falcón, N.3
-
5
-
-
65849288724
-
Spinocerebellar ataxias caused by polyglutamine expansions: A review of therapeutic strategies
-
Underwood BR, Rubinsztein DC: Spinocerebellar ataxias caused by polyglutamine expansions: a review of therapeutic strategies. Cerebellum 2008; 7: 215-221.
-
(2008)
Cerebellum
, vol.7
, pp. 215-221
-
-
Underwood, B.R.1
Rubinsztein, D.C.2
-
6
-
-
33845697708
-
Stages of sleep pathology in spinocerebellar ataxia type 2 (SCA2)
-
DOI 10.1212/01.wnl.0000247054.90322.14, PII 0000611420061212000015
-
Tuin I, Voss U, Kang JS, et al: Stages of sleep pathology in spinocerebellar ataxia type 2 (SCA2). Neurology 2006; 67: 1966-1972. (Pubitemid 44967372)
-
(2006)
Neurology
, vol.67
, Issue.11
, pp. 1966-1972
-
-
Tuin, I.1
Voss, U.2
Kang, J.-S.3
Kessler, K.4
Rub, U.5
Nolte, D.6
Lochmuller, H.7
Tinschert, S.8
Claus, D.9
Krakow, K.10
Pflug, B.11
Steinmetz, H.12
Auburger, G.13
-
7
-
-
33750973623
-
Disturbance of rapid eye movement sleep in spinocerebellar ataxia type 2
-
DOI 10.1002/mds.21036
-
Boesch SM, Frauscher B, Brandauer E, Wenning GK, Högl B, Poewe W: Disturbance of rapid eye movement sleep in spinocerebellar ataxia type 2. Mov Disord 2006; 21: 1751-1754. (Pubitemid 44742213)
-
(2006)
Movement Disorders
, vol.21
, Issue.10
, pp. 1751-1754
-
-
Boesch, S.M.1
Frauscher, B.2
Brandauer, E.3
Wenning, G.K.4
Hogl, B.5
Poewe, W.6
-
8
-
-
0031648543
-
Sleep disturbance in spinocerebellar ataxias: Is the SCA 3 mutation a cause of restless legs syndrome?
-
Schols L, Haan J, Riess O, Amoiridis G, Przuntek H: Sleep disturbance in spinocerebellar ataxias: is the SCA 3 mutation a cause of restless legs syndrome? Neurology 1998; 51: 1603-1607.
-
(1998)
Neurology
, vol.51
, pp. 1603-1607
-
-
Schols, L.1
Haan, J.2
Riess, O.3
Amoiridis, G.4
Przuntek, H.5
-
9
-
-
0035049699
-
Restless legs syndrome in spinocerebellar ataxia types 1, 2, and 3
-
DOI 10.1007/s004150170206
-
Abele M, Burk K, Laccone F, Dichgans J, Klockgether T: Restless legs syndrome in spinocerebellar ataxia types 1, 2, and 3. J Neurol 2001; 248: 311-314. (Pubitemid 32323870)
-
(2001)
Journal of Neurology
, vol.248
, Issue.4
, pp. 311-314
-
-
Abele, M.1
Burk, K.2
Laccone, F.3
Dichgans, J.4
Klockgether, T.5
-
10
-
-
33750988756
-
11C] Raclopride positron emission tomography
-
DOI 10.1002/mds.20978
-
Reimold M, Globas C, Gleichmann M, et al: Spinocerebellar ataxia type 1, 2, and 3 and restless legs syndrome: striatal dopamine D2 receptor status investigated by [11C]raclopride positron emission tomography. Mov Disord 2006; 21: 1667-1673. (Pubitemid 44742196)
-
(2006)
Movement Disorders
, vol.21
, Issue.10
, pp. 1667-1673
-
-
Reimold, M.1
Globas, C.2
Gleichmann, M.3
Schulze, M.4
Gerloff, C.5
Bares, R.6
Machulla, H.-J.7
Burk, K.8
-
12
-
-
33745677486
-
Scale for the assessment and rating of ataxia: Development of a new clinical scale
-
DOI 10.1212/01.wnl.0000219042.60538.92, PII 0000611420060613000022
-
Schmitz-Hubsch T, du Montcel ST, Baliko L, et al: Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 2006; 66: 1717-1720. (Pubitemid 43964628)
-
(2006)
Neurology
, vol.66
, Issue.11
, pp. 1717-1720
-
-
Schmitz-Hubsch, T.1
Du Montcel, S.T.2
Baliko, L.3
Berciano, J.4
Boesch, S.5
Depondt, C.6
Giunti, P.7
Globas, C.8
Infante, J.9
Kang, J.-S.10
Kremer, B.11
Mariotti, C.12
Melegh, B.13
Pandolfo, M.14
Rakowicz, M.15
Ribai, P.16
Rola, R.17
Schols, L.18
Szymanski, S.19
Van De Warrenburg, B.P.20
Durr, A.21
Klockgether, T.22
more..
-
13
-
-
0026333617
-
A new method for measuring daytime sleepiness: The Epworth sleepiness scale
-
Johns MW: A new method for measuring daytime sleepiness: the Epworth sleepiness scale. Sleep 1991; 14: 540-545.
-
(1991)
Sleep
, vol.14
, pp. 540-545
-
-
Johns, M.W.1
-
15
-
-
4444330529
-
Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2
-
DOI 10.1002/ana.20220
-
Velázquez-Pérez L, Seifried C, Santos-Falcón N, et al: Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2. Ann Neurol 2004; 56: 444-447. (Pubitemid 39166568)
-
(2004)
Annals of Neurology
, vol.56
, Issue.3
, pp. 444-447
-
-
Velazquez-Perez, L.1
Seifried, C.2
Santos-Falcon, N.3
Abele, M.4
Ziemann, U.5
Almaguer, L.E.6
Martinez-Gongora, E.7
Sanchez-Cruz, G.8
Canales, N.9
Perez-Gonzalez, R.10
Velazquez-Manresa, M.11
Viebahn, B.12
Von Stuckrad-Barre, S.13
Fetter, M.14
Klockgether, T.15
Auburger, G.16
-
16
-
-
0026755599
-
Polysomnographic features of REM sleep behavior disorder: Development of a scoring method
-
Lapierre O, Montplaisir J: Polysomnographic features of REM sleep behavior disorder: development of a scoring method. Neurology 1992; 42: 1371-1374.
-
(1992)
Neurology
, vol.42
, pp. 1371-1374
-
-
Lapierre, O.1
Montplaisir, J.2
-
18
-
-
0033178851
-
Sleep-related breathing disorders in adults: Recommendations for syndrome definition and measurement techniques in clinical research
-
The report of an American Academy of Sleep Medicine Task Force
-
Sleep-related breathing disorders in adults: recommendations for syndrome definition and measurement techniques in clinical research. The report of an American Academy of Sleep Medicine Task Force. Sleep 1999; 22: 667-689.
-
(1999)
Sleep
, vol.22
, pp. 667-689
-
-
-
19
-
-
0027874854
-
Recording and scoring leg movements: The Atlas Task Force
-
Recording and scoring leg movements: the Atlas Task Force. Sleep 1993; 16: 748-759.
-
(1993)
Sleep
, vol.16
, pp. 748-759
-
-
-
20
-
-
34249061514
-
Sleep fragmentation elevates behavioral, electrographic and neurochemical measures of sleepiness
-
DOI 10.1016/j.neuroscience.2007.03.009, PII S0306452207003296
-
Mckenna JT, Tartar JL, Ward CP, et al: Sleep fragmentation elevates behavioral electrographic and neurochemical measures of sleepiness. Neuroscience 2007; 146: 1462-1473. (Pubitemid 46783211)
-
(2007)
Neuroscience
, vol.146
, Issue.4
, pp. 1462-1473
-
-
McKenna, J.T.1
Tartar, J.L.2
Ward, C.P.3
Thakkar, M.M.4
Cordeira, J.W.5
McCarley, R.W.6
Strecker, R.E.7
-
21
-
-
0033046989
-
Spinocerebellar ataxia 2 (SCA2): Morphometric analyses in 11 autopsies
-
DOI 10.1007/s004010050989
-
Estrada R, Galarraga J, Orozco G, Nodarse A, Auburger G: Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies. Acta Neuropathol 1999; 97: 306-310. (Pubitemid 29137281)
-
(1999)
Acta Neuropathologica
, vol.97
, Issue.3
, pp. 306-310
-
-
Estrada, R.1
Galarraga, J.2
Orozco, G.3
Nodarse, A.4
Auburger, G.5
-
22
-
-
21244444249
-
Mammalian sleep
-
DOI 10.1007/s00114-005-0618-0
-
Staunton H: Mammalian sleep. Naturwissenschaften 2005; 92: 203-220. (Pubitemid 40884010)
-
(2005)
Naturwissenschaften
, vol.92
, Issue.5
, pp. 203-220
-
-
Staunton, H.1
-
23
-
-
0034912409
-
Brain structures and mechanisms involved in the generation of REM sleep
-
DOI 10.1053/smrv.2000.0136
-
Reinoso-Suárez F, de Andrés I, Rodrigo-Angulo ML, Garzón M: Brain structures and mechanisms involved in the generation of REM sleep. Sleep Med Rev 2001; 5: 63-77. (Pubitemid 32666498)
-
(2001)
Sleep Medicine Reviews
, vol.5
, Issue.1
, pp. 63-77
-
-
Reinoso-Suarez, F.1
De Andres, I.2
Rodrigo-Angulo, M.L.3
Garzon, M.4
-
24
-
-
34247555902
-
Neurobiological mechanisms for the regulation of mammalian sleep-wake behavior: Reinterpretation of historical evidence and inclusion of contemporary cellular and molecular evidence
-
DOI 10.1016/j.neubiorev.2007.02.004, PII S0149763407000218
-
Datta S, Maclean RR: Neurobiological mechanisms for the regulation of mammalian sleep-wake behavior: reinterpretation of historical evidence and inclusion of contemporary cellular and molecular evidence. Neurosci Biobehav Rev 2007; 31: 775-824. (Pubitemid 46670339)
-
(2007)
Neuroscience and Biobehavioral Reviews
, vol.31
, Issue.5
, pp. 775-824
-
-
Datta, S.1
MacLean, R.R.2
-
25
-
-
33745278856
-
A putative flip-flop switch for control of REM sleep
-
DOI 10.1038/nature04767, PII N04767
-
Lu J, Sherman D, Devor M, Saper CB: A putative flip-flop switch for control of REM sleep. Nature 2006; 441: 589-594. (Pubitemid 43927285)
-
(2006)
Nature
, vol.441
, Issue.7093
, pp. 589-594
-
-
Lu, J.1
Sherman, D.2
Devor, M.3
Saper, C.B.4
-
26
-
-
14644436772
-
Sleep disorders in autosomic dominant spinocerebellar ataxia: A genotype-phenotype study
-
Arnulf I, Merino-Andreu M, Durr A, Camuzat A, Derenne JP, Similowski T: Sleep disorders in autosomic dominant spinocerebellar ataxia: a genotype-phenotype study. Sleep 2003; 26(suppl):A353-A354.
-
(2003)
Sleep
, vol.26
, Issue.SUPPL.
-
-
Arnulf, I.1
Merino-Andreu, M.2
Durr, A.3
Camuzat, A.4
Derenne, J.P.5
Similowski, T.6
-
27
-
-
0242382805
-
REM sleep behavior disorder and vocal cord paralysis in Machado-Joseph disease
-
DOI 10.1002/mds.10509
-
Iranzo A, Munoz E, Santamaria J, Vilaseca I, Mila M, Tolosa E: REM sleep behavior disorder and vocal cord paralysis in Machado- Joseph disease. Mov Disord 2003; 18: 1179-1183. (Pubitemid 37336944)
-
(2003)
Movement Disorders
, vol.18
, Issue.10
, pp. 1179-1183
-
-
Iranzo, A.1
Munoz, E.2
Santamaria, J.3
Vilaseca, I.4
Mila, M.5
Tolosa, E.6
-
28
-
-
61849099825
-
Sleep symptoms and their clinical correlates in Machado-Joseph disease
-
DAbreu A, Franca M Jr, Conz L, et al: Sleep symptoms and their clinical correlates in Machado-Joseph disease. Acta Neurol Scand 2009; 119: 277-280.
-
(2009)
Acta Neurol Scand
, vol.119
, pp. 277-280
-
-
Dabreu, A.1
Franca Jr., M.2
Conz, L.3
-
29
-
-
42249109228
-
Rapid eye movement sleep disturbances in Huntington disease
-
DOI 10.1001/archneur.65.4.482
-
Arnulf I, Nielsen J, Lohmann E, et al: Rapid eye movement sleep disturbances in Huntington disease. Arch Neurol 2008; 65: 482-488. (Pubitemid 351549956)
-
(2008)
Archives of Neurology
, vol.65
, Issue.4
, pp. 482-488
-
-
Arnulf, I.1
Nielsen, J.2
Lohmann, E.3
Schieffer, J.4
Wild, E.5
Jennum, P.6
Konofal, E.7
Walker, M.8
Oudiette, D.9
Tabrizi, S.10
Durr, A.11
-
30
-
-
0043175676
-
Clinical correlates of 6-hydroxydopamine injections into A11 dopaminergic neurons in rats: A possible model for restless legs syndrome
-
Ondo WG, He Y, Rajasekaran S, Le WD: Clinical correlates of 6-hydroxydopamine injections into A11 dopaminergic neurons in rats: a possible model for restless legs syndrome. Mov Disord 1998; 13: 271-275.
-
(1998)
Mov Disord
, vol.13
, pp. 271-275
-
-
Ondo, W.G.1
He, Y.2
Rajasekaran, S.3
Le, W.D.4
-
31
-
-
33846560142
-
Periodic limb movements in sleep and periodic limb movement disorder
-
DOI 10.1007/s10072-007-0733-0
-
Vetrugno R, DAngelo R, Montagna P: Periodic limb movements in sleep and periodic limb movement disorder. Neurol Sci 2007; 28:S9-S14. (Pubitemid 46152125)
-
(2007)
Neurological Sciences
, vol.28
, Issue.SUPL.1
-
-
Vetrugno, R.1
D'Angelo, R.2
Montagna, P.3
-
32
-
-
33747883525
-
Support for dopaminergic hypoactivity in restless legs syndrome: A PET study on D2-receptor binding
-
DOI 10.1093/brain/awl163
-
Cervenka S, Palhagen SE, Comley RA et al: Support for dopaminergic hypoactivity in restless legs syndrome: a PET study on D2- receptor binding. Brain 2006; 129: 2017-2028. (Pubitemid 44289067)
-
(2006)
Brain
, vol.129
, Issue.8
, pp. 2017-2028
-
-
Cervenka, S.1
Palhagen, S.E.2
Comley, R.A.3
Panagiotidis, G.4
Cselenyi, Z.5
Matthews, J.C.6
Lai, R.Y.7
Halldin, C.8
Farde, L.9
-
33
-
-
0042626103
-
Neuropathological examination suggests impaired brain iron acquisition in restless legs syndrome
-
Connor JR, Boyer PJ, Menzies SL, et al: Neuropathological examination suggests impaired brain iron acquisition in restless legs syndrome. Neurology 2003; 61: 304-309. (Pubitemid 36975956)
-
(2003)
Neurology
, vol.61
, Issue.3
, pp. 304-309
-
-
Connor, J.R.1
Boyer, P.J.2
Menzies, S.L.3
Dellinger, B.4
Allen, R.P.5
Ondo, W.G.6
Earley, C.J.7
-
34
-
-
3042694917
-
Dopamine and iron in the pathophysiology of restless legs syndrome (RLS)
-
Allen R: Dopamine and iron in the pathophysiology of restless legs syndrome (RLS). Sleep Med 2004; 5: 385-391.
-
(2004)
Sleep Med
, vol.5
, pp. 385-391
-
-
Allen, R.1
-
35
-
-
0034846430
-
Iron, brain and restless legs syndrome
-
DOI 10.1053/smrv.2001.0156
-
Krieger J, Schroeder C: Iron, brain and restless legs syndrome. Sleep Med Rev 2001; 5: 277-286. (Pubitemid 32822065)
-
(2001)
Sleep Medicine Reviews
, vol.5
, Issue.4
, pp. 277-286
-
-
Krieger, J.1
Schroeder, C.2
-
36
-
-
1442280313
-
123I]FP-CIT Binding in SCA2 Patients without Parkinsonism
-
DOI 10.1002/ana.20054
-
Varrone A, Salvatore E, De Michele G, et al: Reduced striatal [123I]FP-CIT binding in SCA2 patients without parkinsonism. Ann Neurol 2004; 55: 426-430. (Pubitemid 38269596)
-
(2004)
Annals of Neurology
, vol.55
, Issue.3
, pp. 426-430
-
-
Varrone, A.1
Salvatore, E.2
De Michele, G.3
Barone, P.4
Sansone, V.5
Pellecchia, M.T.6
Castaldo, I.7
Coppola, G.8
Brunetti, A.9
Salvatore, M.10
Pappata, S.11
Filla, A.12
-
37
-
-
8844241499
-
123I-IBZM SPECT study
-
DOI 10.1002/mds.20159
-
Boesch SM, Donnemiller E, Muller J, et al: Abnormalities of dopaminergic neurotransmission in SCA2: a combined 123 I-βCIT and 123 I-IBZM SPECT study. Mov Disord 2004; 19: 1320-1325. (Pubitemid 39534550)
-
(2004)
Movement Disorders
, vol.19
, Issue.11
, pp. 1320-1325
-
-
Boesch, S.M.1
Donnemiller, E.2
Muller, J.3
Seppi, K.4
Weirich-Schwaiger, H.5
Poewe, W.6
Wenning, G.K.7
-
38
-
-
79960565296
-
Serum and cerebrospinal fluid levels of copper, iron and zinc in patients with ataxia type SCA-2 from the province of Holguin in Cuba
-
González C, Sánchez G, González A, et al: Serum and cerebrospinal fluid levels of copper, iron and zinc in patients with ataxia type SCA-2 from the province of Holguin in Cuba. Dialogues Clin Neurosci 2005; 13: 12-16.
-
(2005)
Dialogues Clin Neurosci
, vol.13
, pp. 12-16
-
-
González, C.1
Sánchez, G.2
González, A.3
-
39
-
-
38049014465
-
Restless legs syndrome in Parkinsons disease and other neurodegenerative diseases of the central nervous system
-
Iranzo A, Comella CL, Santamaria J, Oertel W: Restless legs syndrome in Parkinsons disease and other neurodegenerative diseases of the central nervous system. Mov Disord 2007; 22(suppl 18):S424-S430.
-
(2007)
Mov Disord
, vol.22
, Issue.SUPPL. 18
-
-
Iranzo, A.1
Comella, C.L.2
Santamaria, J.3
Oertel, W.4
-
40
-
-
2542450773
-
Restless legs syndrome and periodic limb movement disorder in the elderly
-
DOI 10.1016/S0022-3999(04)00020-0, PII S0022399904000200
-
Hornyak M, Trenkwalder C: Restless legs syndrome and periodic limb movement disorder in the elderly. J Psychosom Res 56; 2004: 543-548. (Pubitemid 38686694)
-
(2004)
Journal of Psychosomatic Research
, vol.56
, Issue.5
, pp. 543-548
-
-
Hornyak, M.1
Trenkwalder, C.2
-
41
-
-
0024422743
-
Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological, and biochemical findings
-
DOI 10.1016/0022-510X(89)90159-7
-
Orozco DG, Estrada R, Perry T, Araa J, Fernández R: Dominantly inherited olivopontocerebellar atrophy from eastern Cuba: clinical, neuropathological and biochemical findings. J Neurol Sci 1989; 93: 37-50. (Pubitemid 19244006)
-
(1989)
Journal of the Neurological Sciences
, vol.93
, Issue.1
, pp. 37-50
-
-
Orozco, G.1
Estrada, R.2
Perry, T.L.3
Arana, J.4
Fernandez, R.5
Gonzalez-Quevedo, A.6
Galarraga, J.7
Hansen, S.8
-
42
-
-
0029611008
-
Autosomal dominant cerebellar ataxia type i in Martinique (French West Indies): Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families
-
Durr A, Smadja D, Cancel G, et al: Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. Brain 1995; 118: 1573-1581.
-
(1995)
Brain
, vol.118
, pp. 1573-1581
-
-
Durr, A.1
Smadja, D.2
Cancel, G.3
|