-
1
-
-
19244384619
-
Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients
-
Lopes-Cendes I, Teive HG, Calcagnotto ME, Costa JC, Cavdoso F, Viana E, et al. Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients. Arq Neuropsiquiatr 1997;55:519-529.
-
(1997)
Arq Neuropsiquiatr
, vol.55
, pp. 519-529
-
-
Lopes-Cendes, I.1
Teive, H.G.2
Calcagnotto, M.E.3
Costa, J.C.4
Cavdoso, F.5
Viana, E.6
-
2
-
-
11144356369
-
Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis
-
DOI 10.1016/S1474-4422(04)00737-9, PII S1474442204007379
-
Schols L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 2004;3:291-304. (Pubitemid 38510200)
-
(2004)
Lancet Neurology
, vol.3
, Issue.5
, pp. 291-304
-
-
Schols, L.1
Bauer, P.2
Schmidt, T.3
Schulte, T.4
Riess, O.5
-
3
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
DOI 10.1038/ng1194-221
-
Kawaguchi Y, Okamoto T, Taniwaki M, Hizawa MG, Inoue M, Katayama S, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221-228. (Pubitemid 24338732)
-
(1994)
Nature Genetics
, vol.8
, Issue.3
, pp. 221-228
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
Aizawa, M.4
Inoue, M.5
Katayama, S.6
Kawakami, H.7
Nakamura, S.8
Nishimura, M.9
Akiguchi, I.10
Kimura, J.11
Narumiya, S.12
Kakizuka, A.13
-
4
-
-
0034971210
-
n
-
Jardim LB, Pereira ML, Silveira I, Ferro A, Sequeiros J, Giuliani R, et al. Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n. Arch Neurol 2001;58:899-904. (Pubitemid 32537464)
-
(2001)
Archives of Neurology
, vol.58
, Issue.6
, pp. 899-904
-
-
Jardim, L.B.1
Pereira, M.L.2
Silveira, I.3
Ferro, A.4
Sequeiros, J.5
Giugliani, R.6
-
5
-
-
0029914974
-
Electrophysiological findings in a Danish family with Machado-Joseph disease
-
DOI 10.1002/(SICI)1097-4598(199606)19:6<743::AID-MUS9>3.0.CO;2-A
-
Colding-Jorgensen E, Sorensen SA, Hasholt L, Lauritzen M. Electrophysiological findings in a Danish family with Machado-Joseph disease. Muscle Nerve 1996;19:743-750. (Pubitemid 26134585)
-
(1996)
Muscle and Nerve
, vol.19
, Issue.6
, pp. 743-750
-
-
Colding-Jorgensen, E.1
Sorensen, S.A.2
Hasholt, L.3
Lauritzen, M.4
-
7
-
-
0030939011
-
International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome
-
The Ataxia Neuropharmacology Committee of the World Federation of Neurology
-
Trouillas P, Takayanagi T, Hallett M, Currier RD, Subramony SH, Wessel K, et al. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology. J Neurol Sci 1997;145:205-211.
-
(1997)
J Neurol Sci
, vol.145
, pp. 205-211
-
-
Trouillas, P.1
Takayanagi, T.2
Hallett, M.3
Currier, R.D.4
Subramony, S.H.5
Wessel, K.6
-
8
-
-
33745129687
-
Multi-center assessment of the Total Neuropathy Score for chemotherapy-induced peripheral neurotoxicity
-
DOI 10.1111/j.1085-9489.2006.00078.x
-
Cavaletti G, Jann S, Pace A, Lasmati R, Siciliano G, Briani C, et al. Multi-center assessment of the Total Neuropathy Score for chemotherapy-induced peripheral neurotoxicity. J Periph Nerv Syst 2006;11:135-141. (Pubitemid 43894080)
-
(2006)
Journal of the Peripheral Nervous System
, vol.11
, Issue.2
, pp. 135-141
-
-
Cavaletti, G.1
Jann, S.2
Pace, A.3
Plasmati, R.4
Siciliano, G.5
Briani, C.6
Cocito, D.7
Padua, L.8
Ghiglione, E.9
Manicone, M.10
Giussani, G.11
-
9
-
-
0033544430
-
Total neuropathy score: Validation and reliability study
-
Cornblath DR, Chaudhry V, Carter K, Lee D, Seysedad M, Lievnicki M, et al. Total neuropathy score: validation and reliability study. Neurology 1999;53:1660-1664. (Pubitemid 29530336)
-
(1999)
Neurology
, vol.53
, Issue.8
, pp. 1660-1664
-
-
Cornblath, D.R.1
Chaudhry, V.2
Carter, K.3
Lee, D.4
Seysedadr, M.5
Miernicki, M.6
Joh, T.7
-
11
-
-
0028940665
-
Clinicopathological study of the peripheral nervous system in Machado-Joseph disease
-
Kinoshita A, Hayashi M, Oda M, Tanabe H. Clinicopathological study of the peripheral nervous system in Machado-Joseph disease. J Neurol Sci 1995;130:48-58.
-
(1995)
J Neurol Sci
, vol.130
, pp. 48-58
-
-
Kinoshita, A.1
Hayashi, M.2
Oda, M.3
Tanabe, H.4
-
12
-
-
0025882723
-
Comparison of electrodiagnostic criteria for primary demyelination in chronic polyneuropathy
-
Bromberg MB. Comparison of electrodiagnostic criteria for primary demyelination in chronic polyneuropathy. Muscle Nerve 1991;14:968-976.
-
(1991)
Muscle Nerve
, vol.14
, pp. 968-976
-
-
Bromberg, M.B.1
-
13
-
-
0030772730
-
Sural/radial amplitude ratio in the diagnosis of mild axonal polyneuropathy
-
DOI 10.1002/(SICI)1097-4598(199710)20:10<1236::AID-MUS5>3.0.CO;2-D
-
Rutkove SB, Kothari MJ, Raynor EM, Levy ML, Fadic R, Navdin RA, et al. Sural/radial amplitude ratio in the diagnosis of mild axonal polyneuropathy. Muscle Nerve 1997;20:1236-1241. (Pubitemid 27415511)
-
(1997)
Muscle and Nerve
, vol.20
, Issue.10
, pp. 1236-1241
-
-
Rutkove, S.B.1
Kothari, M.J.2
Raynor, E.M.3
Levy, M.L.4
Fadic, R.5
Nardin, R.A.6
-
14
-
-
1042291156
-
Peripheral Nerve Involvement in Spinocerebellar Ataxias
-
DOI 10.1001/archneur.61.2.257
-
van de Warrenburg BPC, Notermans NC, Schelhaas HJ, van Allen M, Sinke RJ, Knoers N, et al. Peripheral nerve involvement in spinocerebellar ataxias. Arch Neurol 2004;61:257-261. (Pubitemid 38197560)
-
(2004)
Archives of Neurology
, vol.61
, Issue.2
, pp. 257-261
-
-
Van De Warrenburg, B.P.C.1
Notermans, N.C.2
Schelhaas, H.J.3
Van Alfen, N.4
Sinke, R.J.5
Knoers, N.V.A.M.6
Zwarts, M.J.7
Kremer, B.P.H.8
-
15
-
-
0032910198
-
Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD)
-
Klockgether T, Schols L, Abele M, Bürk K, Topka H, Andres F, et al. Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD). J Neurol Neurosurg Psychiatry 1999;66:222-224. (Pubitemid 29103526)
-
(1999)
Journal of Neurology Neurosurgery and Psychiatry
, vol.66
, Issue.2
, pp. 222-224
-
-
Klockgether, T.1
Schols, L.2
Abele, M.3
Burk, K.4
Topka, H.5
Andres, F.6
Amoiridis, G.7
Ludtke, R.8
Riess, O.9
Laccone, F.10
Dichgans, J.11
-
16
-
-
0344654770
-
Polyneuropathy in autosomal dominant cerebellar ataxias: Phenotype- Genotype correlation
-
DOI 10.1002/(SICI)1097-4598(199906)22:6<712::AID-MUS7>3.0.CO;2-0
-
Kubis N, Dürr A, Gugenheim M, Chneiweiss H, Mazzetli P, Brice A, et al. Polyneuropathy in autosomal dominant cerebellar ataxias: phenotype-genotype correlation. Muscle Nerve 1999;22:712-717. (Pubitemid 29256839)
-
(1999)
Muscle and Nerve
, vol.22
, Issue.6
, pp. 712-717
-
-
Kubis, N.1
Durr, A.2
Gugenheim, M.3
Chneiweiss, H.4
Mazzetti, P.5
Brice, A.6
Bouche, P.7
-
17
-
-
37149055805
-
Chronic pain in Machado-Joseph disease: A frequent and disabling symptom
-
DOI 10.1001/archneur.64.12.1767
-
França MC Jr, D'Abreu A, Friedman JH, Nucci AM, Cendes F, Lopes-Cendes I. Chronic pain in Machado-Joseph disease: a frequent and disabling symptom. Arch Neurol 2007;64:1767-1770. (Pubitemid 350254940)
-
(2007)
Archives of Neurology
, vol.64
, Issue.12
, pp. 1767-1770
-
-
Franca Jr., M.C.1
D'Abreu, A.2
Friedman, J.H.3
Nucci, A.4
Lopes-Cendes, I.5
-
18
-
-
0037379363
-
Muscle cramp in Machado-Joseph disease - Altered motor axonal excitability properties and mexiletine treatment
-
DOI 10.1093/brain/awg073
-
Kanai K, Kuwabara S, Arai K, Sung JY, Ozawara K, Hattori T. Muscle cramp in Machado-Joseph disease: altered motor axonal excitability properties and mexiletine treatment. Brain 2003;126:965-973. (Pubitemid 36372993)
-
(2003)
Brain
, vol.126
, Issue.4
, pp. 965-973
-
-
Kanai, K.1
Kuwabara, S.2
Arai, K.3
Sung, J.-Y.4
Ogawara, K.5
Hattori, T.6
-
19
-
-
0030847065
-
The neuropathology of CAG repeat diseases: Review and update of genetic and molecular features
-
Robitaille Y, Lopes-Cendes I, Becher M, Roulezu G, Clark AW. The neuropathology of CAG repeat diseases: review and update of genetic and molecular features. Brain Pathol 1997;7:901-926. (Pubitemid 27346734)
-
(1997)
Brain Pathology
, vol.7
, Issue.3
, pp. 901-926
-
-
Robitaille, Y.1
Lopes-Cendes, I.2
Becher, M.3
Rouleau, G.4
Clark, A.W.5
-
20
-
-
77957147534
-
Clinical and genetic aspects of spinocerebellar ataxias with emphasis on polyglutamine expansions
-
Brice A, Pulst S-M, editors. Philadelphia: Butterworth-Heinemann
-
Stevanin G, Durr A, Brice A. Clinical and genetic aspects of spinocerebellar ataxias with emphasis on polyglutamine expansions. In: Brice A, Pulst S-M, editors. Spinocerebellar degenerations: the ataxias and spastic paraplegias. Philadelphia: Butterworth-Heinemann; 2007. p. 113-144.
-
(2007)
Spinocerebellar Degenerations: the Ataxias and Spastic Paraplegias
, pp. 113-144
-
-
Stevanin, G.1
Durr, A.2
Brice, A.3
-
21
-
-
26844559674
-
Mouse models of Machado-Joseph disease and other polyglutamine spinocerebellar ataxias
-
Colomer Gould VF. Mouse models of Machado-Joseph disease and other polyglutamine spinocerebellar ataxias. NeuroRx 2005;2:480-483.
-
(2005)
NeuroRx
, vol.2
, pp. 480-483
-
-
Colomer Gould, V.F.1
-
23
-
-
37549036991
-
CAG repeat size correlates to electrophysiological motor and sensory phenotypes in SBMA
-
Suzuki K, Katsuno M, Banno H, Takeuchi Y, Atsuta N, Ito M, et al. CAG repeat size correlates to electrophysiological motor and sensory phenotypes in SBMA. Brain 2008;131:229-239.
-
(2008)
Brain
, vol.131
, pp. 229-239
-
-
Suzuki, K.1
Katsuno, M.2
Banno, H.3
Takeuchi, Y.4
Atsuta, N.5
Ito, M.6
-
24
-
-
0029047109
-
Correlation between CAG repeat length and clinical features in Machado-Joseph disease
-
Maciel P, Gaspar C, DeStefano AL, Silveira I, Coutinho P, Radvany J, 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
Silveira, I.4
Coutinho, P.5
Radvany, J.6
-
25
-
-
17744400306
-
Sural and radial sensory responses in healthy adults: Diagnostic implications for polyneuropathy
-
DOI 10.1002/mus.20313
-
Esper GJ, Nardin RA, Benatar M, Sax TW, Acosta JA, Raynor EM. Sural and radial sensory responses in healthy adults: diagnostic implications for polyneuropathy. Muscle Nerve 2005;31:628-632. (Pubitemid 40577786)
-
(2005)
Muscle and Nerve
, vol.31
, Issue.5
, pp. 628-632
-
-
Esper, G.J.1
Nardin, R.A.2
Benatar, M.3
Sax, T.W.4
Acosta, J.A.5
Raynor, E.M.6
-
26
-
-
0026589430
-
Conduction studies of the normal sural nerve
-
Horowitz SH, Krarup C. Conduction studies of the normal sural nerve. Muscle Nerve 1992;15:374-383.
-
(1992)
Muscle Nerve
, vol.15
, pp. 374-383
-
-
Horowitz, S.H.1
Krarup, C.2
|