-
1
-
-
0031714729
-
Molecular and clinical studies in SCA-7 define abroad clinical spectrum and the infantile phenotype
-
Benton CS, de Silva R, Rutledge SL, Bohlega S, Ashizawa T, Zoghbi HY. Molecular and clinical studies in SCA-7 define abroad clinical spectrum and the infantile phenotype. Neurology 1998; 51: 1081-5.
-
(1998)
Neurology
, vol.51
, pp. 1081-1085
-
-
Benton, C.S.1
De Silva, R.2
Rutledge, S.L.3
Bohlega, S.4
Ashizawa, T.5
Zoghbi, H.Y.6
-
2
-
-
0035109739
-
Genetic testing in spinocerebellar ataxias: Defining a clinical role
-
Tan EK, Ashizawa T. Genetic testing in spinocerebellar ataxias: defining a clinical role. Arch Neurol 2001; 58: 191-5.
-
(2001)
Arch Neurol
, vol.58
, pp. 191-195
-
-
Tan, E.K.1
Ashizawa, T.2
-
3
-
-
2942736685
-
Discoveries in sphingolipid metabolism, spinocerebellar ataxia and autoimmune disease
-
Brunham LR, Chan EYW, Orban PC, Levings MK. Discoveries in sphingolipid metabolism, spinocerebellar ataxia and autoimmune disease. Clin Genet 2003; 64: 1-6.
-
(2003)
Clin Genet
, vol.64
, pp. 1-6
-
-
Brunham, L.R.1
Chan, E.Y.W.2
Orban, P.C.3
Levings, M.K.4
-
4
-
-
2942747910
-
A new mechanism for spinocerebellar ataxia involving mutations in proteinkinase C
-
Chan EY. A new mechanism for spinocerebellar ataxia involving mutations in proteinkinase C. Clin Genet 2003; 64: 3-4.
-
(2003)
Clin Genet
, vol.64
, pp. 3-4
-
-
Chan, E.Y.1
-
5
-
-
0037271629
-
Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan
-
Matsumara R, Futamura N, Andon N, Veno S. Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan. Acta Neurol Scand 2003; 107: 38-41.
-
(2003)
Acta Neurol Scand
, vol.107
, pp. 38-41
-
-
Matsumara, R.1
Futamura, N.2
Andon, N.3
Veno, S.4
-
6
-
-
0033731662
-
Molecular genetics and inherited ataxias: Redefining phenotypes and patogenesis
-
Sobrido MJ, Geschwind DH. Molecular genetics and inherited ataxias: redefining phenotypes and patogenesis. Neuroscientist 2000; 6: 465-74.
-
(2000)
Neuroscientist
, vol.6
, pp. 465-474
-
-
Sobrido, M.J.1
Geschwind, D.H.2
-
7
-
-
0035936608
-
Clinical features and genetic analysis of a new form of spinocerebellar ataxia
-
Devos D, Schraen M, Vuillaume, Dujardin K, Nazé P, Willoteaux C, et al. Clinical features and genetic analysis of a new form of spinocerebellar ataxia. Neurology 2001; 56: 234-8.
-
(2001)
Neurology
, vol.56
, pp. 234-238
-
-
Devos, D.1
Schraen, M.2
Vuillaume3
Dujardin, K.4
Nazé, P.5
Willoteaux, C.6
-
8
-
-
0036353062
-
Spinocerebellar ataxia type 7 (SCA 7) shows a cone-rod dystrophy phenotype
-
Aleman TS, Cideciyan AV, Volpe NJ, Stevanin G, Brice A, Jacobson SG. Spinocerebellar ataxia type 7 (SCA 7) shows a cone-rod dystrophy phenotype. Exp Eye Res 2002; 74: 737-45.
-
(2002)
Exp Eye Res
, vol.74
, pp. 737-745
-
-
Aleman, T.S.1
Cideciyan, A.V.2
Volpe, N.J.3
Stevanin, G.4
Brice, A.5
Jacobson, S.G.6
-
9
-
-
0035110068
-
Spinocerebellar ataxia type 7: A distinctive form of autosomal dominant cerebellar ataxia with retinopathy and marked genetic anticipation
-
Grattan-Smith PJ, Healeyy S, Grigg JR, Christodoulou J. Spinocerebellar ataxia type 7: A distinctive form of autosomal dominant cerebellar ataxia with retinopathy and marked genetic anticipation. J Paediatr Child Health 2001; 37: 81-4.
-
(2001)
J Paediatr Child Health
, vol.37
, pp. 81-84
-
-
Grattan-Smith, P.J.1
Healeyy, S.2
Grigg, J.R.3
Christodoulou, J.4
-
10
-
-
0033996804
-
The clinical and genetic characteristics of spinocerebellar ataxia type 7 (SCA7) in three black South African families
-
Modi G, Modi M, Martinus F, Rodda J, Saffer D. The clinical and genetic characteristics of spinocerebellar ataxia type 7 (SCA7) in three black South African families. Acta Neurol Scand 2000; 101: 177-82.
-
(2000)
Acta Neurol Scand
, vol.101
, pp. 177-182
-
-
Modi, G.1
Modi, M.2
Martinus, F.3
Rodda, J.4
Saffer, D.5
-
11
-
-
0033639208
-
Distribution of ataxin 7 in normal human brain and retina
-
Cancel G, Duyckaerts C, Holmberg M, Zander C, Yvert G, Lebre AS, et al. Distribution of ataxin 7 in normal human brain and retina. Brain 2000; 123: 2519-30.
-
(2000)
Brain
, vol.123
, pp. 2519-2530
-
-
Cancel, G.1
Duyckaerts, C.2
Holmberg, M.3
Zander, C.4
Yvert, G.5
Lebre, A.S.6
-
13
-
-
0034992392
-
Slowing of voluntary and involuntary saccades: An early sign in spinocerebellar ataxia type 7
-
Andrew K, Oh K, Jacobson JC, et al. Slowing of voluntary and involuntary saccades: an early sign in spinocerebellar ataxia type 7. Ann Neurol 2001; 49: 801-4.
-
(2001)
Ann Neurol
, vol.49
, pp. 801-804
-
-
Andrew, K.1
Oh, K.2
Jacobson, J.C.3
-
14
-
-
0033731662
-
Molecular Genetics and inherited ataxias: Refining phenotypes and pathogenesis
-
Sobrido MJ. Molecular Genetics and inherited ataxias: refining phenotypes and pathogenesis. Neuroscientist 2000; 6: 465-74.
-
(2000)
Neuroscientist
, vol.6
, pp. 465-474
-
-
Sobrido, M.J.1
-
15
-
-
0034676589
-
Investigación clínica y genética de una familia peruana afectada por ataxia espinocerebelosa tipo 7
-
Castañeda-Reyna MA, Ávalos C, Jerí R. Investigación clínica y genética de una familia peruana afectada por ataxia espinocerebelosa tipo 7. Rev Neurol 2000; 31: 923-8.
-
(2000)
Rev Neurol
, vol.31
, pp. 923-928
-
-
Castañeda-Reyna, M.A.1
Ávalos, C.2
Jerí, R.3
-
16
-
-
0030940340
-
Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): Clinical and neurolopathological findings in two pedigrees and genetic linkage to 3p12-21.1
-
Jobsis GJ, Weber JW, Barth PG, Keizers H, Baas F, Schooneveld MJ, et al. Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neurolopathological findings in two pedigrees and genetic linkage to 3p12-21.1. J Neurol Neurosurg Psychiatry 1997; 62: 367-71.
-
(1997)
J Neurol Neurosurg Psychiatry
, vol.62
, pp. 367-371
-
-
Jobsis, G.J.1
Weber, J.W.2
Barth, P.G.3
Keizers, H.4
Baas, F.5
Schooneveld, M.J.6
-
17
-
-
0032778176
-
Neuroimaging study in autosomal dominant cerebellar ataxia, deafness and narcolepsy
-
Melberg A, Dahl N, Hetta J, Valind S, Nennesmo I, Lundberg PO, et al. Neuroimaging study in autosomal dominant cerebellar ataxia, deafness and narcolepsy. Neurology 1999; 53: 2190-2.
-
(1999)
Neurology
, vol.53
, pp. 2190-2192
-
-
Melberg, A.1
Dahl, N.2
Hetta, J.3
Valind, S.4
Nennesmo, I.5
Lundberg, P.O.6
-
18
-
-
0033620581
-
Ataxia espinocerebelosa tipo VII (AEC 7): Comunicación de una familia afectada española
-
Mayo-Cabrero D, Yusta-Izquiedo A, Vázquez-Miralles JM, García-Ruiz Espiga PJ, Robledo-Batanero M, Benítez J. Ataxia espinocerebelosa tipo VII (AEC 7): comunicación de una familia afectada española. Rev Neurol 1999; 28: 964-6.
-
(1999)
Rev Neurol
, vol.28
, pp. 964-966
-
-
Mayo-Cabrero, D.1
Yusta-Izquiedo, A.2
Vázquez-Miralles, J.M.3
García-Ruiz Espiga, P.J.4
Robledo-Batanero, M.5
Benítez, J.6
-
19
-
-
0035228528
-
Las ataxias hereditarias en Cuba. Aspectos históricos, epidemiológicos, clínicos, electrofisiológicos y de neurología cuantitativa
-
Velázquez-Pérez L, García R, Santos FN, Paneque HM, Medine HE, Hechavarría PR. Las ataxias hereditarias en Cuba. Aspectos históricos, epidemiológicos, clínicos, electrofisiológicos y de neurología cuantitativa. Rev Neurol 2001; 32: 71-6.
-
(2001)
Rev Neurol
, vol.32
, pp. 71-76
-
-
Velázquez-Pérez, L.1
García, R.2
Santos, F.N.3
Paneque, H.M.4
Medine, H.E.5
Hechavarría, P.R.6
-
20
-
-
0038639032
-
D-cycloserine for the treatment of ataxia in spinocerebellar degeneration
-
Masafumi O. D-cycloserine for the treatment of ataxia in spinocerebellar degeneration. J Neurol Sci 2003; 210: 53-6.
-
(2003)
J Neurol Sci
, vol.210
, pp. 53-56
-
-
Masafumi, O.1
-
21
-
-
2942729262
-
Therapeutic efficacy of transcranial magnetic stimulation for amyotrophyc lateral sclerosis and spinocerebellar degeneration
-
Horiuchi M. Therapeutic efficacy of transcranial magnetic stimulation for amyotrophyc lateral sclerosis and spinocerebellar degeneration. Int Cong Ser 2002; 1235: 525-32.
-
(2002)
Int Cong Ser
, vol.1235
, pp. 525-532
-
-
Horiuchi, M.1
|