-
1
-
-
11144356369
-
Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis
-
DOI 10.1016/S1474-4422(04)00737-9, PII S1474442204007379
-
Schöls L, Bauer P, Schmidt T, et al. Autosomal dominant cer-ebellar ataxias: clinical features, genetics, and pathogenesis [J]. Lancet Neurol, 2004, 3(5): 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
-
2
-
-
34447333096
-
Spinocerebellar ataxias: An update
-
DOI 10.1097/WCO.0b013e3281fbd3dd, PII 0001905220070800000012
-
Soong B W, Paulson H L. Spinocerebellar ataxias: an update [J]. Curr Opin Neurol, 2007, 20(4): 438-446. (Pubitemid 47051992)
-
(2007)
Current Opinion in Neurology
, vol.20
, Issue.4
, pp. 438-446
-
-
Soong, B.-W.1
Paulson, H.L.2
-
3
-
-
33745088678
-
Molecular pathogenesis of spinocerebellar ataxias
-
DOI 10.1093/brain/awl081
-
Duenas A M, Goold R, Giunti P. Molecular pathogenesis of spinocerebellar ataxias [J]. Brain, 2006, 129 (P16) : 1357-1370. (Pubitemid 43999370)
-
(2006)
Brain
, vol.129
, Issue.6
, pp. 1357-1370
-
-
Duenas, A.M.1
Goold, R.2
Giunti, P.3
-
4
-
-
17844389364
-
The wide spectrum of spinocerebellar ataxia (SCAs) [J]
-
Manto M U. The wide spectrum of spinocerebellar ataxia (SCAs) [J]. Cerebellum, 2005, 4(1): 2-6.
-
(2005)
Cerebellum
, vol.4
, Issue.1
, pp. 2-6
-
-
Manto, M.U.1
-
5
-
-
0028988941
-
Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients[J]
-
Schols L, Vieira-Saecker A M, Schols S, et al. Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients[J]. Hum Mol Genet, 1995, 4(6): 1001-1005.
-
(1995)
Hum Mol Genet
, vol.4
, Issue.6
, pp. 1001-1005
-
-
Schols, L.1
Vieira-Saecker, A.M.2
Schols, S.3
-
6
-
-
0027279503
-
The gene for Machado-Joseph disease maps to human chromosome 14q
-
DOI 10.1038/ng0793-300
-
Takiyama Y, Nishizawa M, Tanaka H, et al. The gene for Machado-Joseph disease maps to human chromosome 14q[J]. Nat Genet, 1993, 4(3): 300-304. (Pubitemid 23205181)
-
(1993)
Nature Genetics
, vol.4
, Issue.3
, pp. 300-304
-
-
Takiyama, Y.1
Nishizawa, M.2
Tanaka, H.3
Kawashima, S.4
Sakamoto, H.5
Karube, Y.6
Shimazaki, H.7
Soutome, M.8
Endo, K.9
Ohta, S.10
Kagawa, Y.11
Kanazawa, I.12
Mizuno, Y.13
Yoshida, M.14
Yuasa, T.15
Horikawa, Y.16
Oyanagi, K.17
Nagai, H.18
Kondo, T.19
-
7
-
-
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, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1[J]. Nat Genet, 1994, 8(3): 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
-
8
-
-
79960777677
-
Frequency of spinocerebellar ataxia types 1,2,3,6,7,8,10,12,17 and dentatorubral-pallidoluysian atrophy in Chinese Han population [J]
-
WANG Junling, XU Qian, LEI Lifang, et al. Frequency of spinocerebellar ataxia types 1,2,3,6,7,8,10,12,17 and dentatorubral-pallidoluysian atrophy in Chinese Han population [J]. Chin J Neurol, 2009, 42(10): 672-675.
-
(2009)
Chin J Neurol
, vol.42
, Issue.10
, pp. 672-675
-
-
Wang, J.1
Xu, Q.2
Lei, L.3
-
9
-
-
65849514220
-
SCA3: Neurological features, pathogenesis and animal models[ J]
-
Riess O, Rub U, Pastore A, et al. SCA3: Neurological features, pathogenesis and animal models[ J]. Cerebellum, 2008, 7(2), 125-137.
-
(2008)
Cerebellum
, vol.7
, Issue.2
, pp. 125-137
-
-
Riess, O.1
Rub, U.2
Pastore, A.3
-
10
-
-
0036198110
-
Protein surveillance machinery in brains with spinocerebellar ataxia type 3: Redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusions
-
DOI 10.1002/ana.10101
-
Schmidt T, Lindenberg K S, Krebs A, et al. Protein surveillance machinery in brains with spinocerebellar ataxia type 3: redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusions [J]. Ann Ncurol, 2002, 51(3): 302-310. (Pubitemid 34206286)
-
(2002)
Annals of Neurology
, vol.51
, Issue.3
, pp. 302-310
-
-
Schmidt, T.1
Lindenberg, K.S.2
Krebs, A.3
Schols, L.4
Laccone, F.5
Herms, J.6
Rechsteiner, M.7
Riess, O.8
Landwehrmeyer, B.9
-
11
-
-
0029042742
-
Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease [J]
-
Maruyama H, Nakamura S, Matsuyama Z, et al. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease [J]. Hum Molecul Genet, 1995, 4 (5): 807-812.
-
(1995)
Hum Molecul Genet
, vol.4
, Issue.5
, pp. 807-812
-
-
Maruyama, H.1
Nakamura, S.2
Matsuyama, Z.3
-
12
-
-
0037066111
-
Spinocerebellar ataxias in the Netherlands: Prevalence and age at onset variance analysis
-
van de Warrenburg B P, Sinke R J, Verschuuren-Bemelmans C C, et al. Spinocerebellar ataxias in the Netherlands:Prevalence and age at onset variance analysis[ J ]. Neurology, 2002, 58(5): 702-708. (Pubitemid 34211547)
-
(2002)
Neurology
, vol.58
, Issue.5
, pp. 702-708
-
-
Van De Warrenburg, B.P.1
Sinke, R.J.2
Verschuuren-Bemelmans, C.C.3
Scheffer, H.4
Brunt, E.R.5
Ippel, P.F.6
Maat-Kievit, J.A.7
Dooijes, D.8
Notermans, N.C.9
Lindhout, D.10
Knoers, N.V.A.M.11
Kremer, H.P.H.12
-
13
-
-
0029047109
-
Correlation between CAG repeat length and clinical features in Machado-Joseph disease[J]
-
Maciel P, Gaspar C, DeStefano A L, et al. Correlation between CAG repeat length and clinical features in Machado-Joseph disease[J]. Am J Hum Genet, 1995, 57(1): 54-61.
-
(1995)
Am J Hum Genet
, vol.57
, Issue.1
, pp. 54-61
-
-
Maciel, P.1
Gaspar, C.2
DeStefano, A.L.3
-
14
-
-
42649118505
-
New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado-Joseph disease)
-
DOI 10.1097/WCO.0b013e3282f7673d, PII 0001905220080400000002
-
Rub U, Brunt E R, Deller T. New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado-Joseph disease) [J]. Curr Opin Neurol, 2008, 21 (2): 111-116. (Pubitemid 351644149)
-
(2008)
Current Opinion in Neurology
, vol.21
, Issue.2
, pp. 111-116
-
-
Rub, U.1
Brunt, E.R.2
Deller, T.3
-
15
-
-
0024370161
-
Clinical biochemistry of neuron specific enolase
-
DOI 10.1016/0009-8981(89)90268-4
-
Kaiser E, Kuzmits R, Pregant P, et al. Clinical biochemistry of neuron specific enolase[J]. Clinica Chimica Acta, 1989, 183(1): 13-32. (Pubitemid 19179559)
-
(1989)
Clinica Chimica Acta
, vol.183
, Issue.1
, pp. 13-32
-
-
Kaiser, E.1
Kuzmits, R.2
Pregant, P.3
Burghuber, O.4
Worofka, W.5
-
16
-
-
0242335599
-
S100B in brain damage and neurodegeneration[ J]
-
Rothermundi M, Peters M, Prehn J H, et al. S100B in Brain Damage and Neurodegeneration[ J]. Micros Res Tech, 2003, 60(6): 614-632.
-
(2003)
Micros Res Tech
, vol.60
, Issue.6
, pp. 614-632
-
-
Rothermundi, M.1
Peters, M.2
Prehn, J.H.3
-
17
-
-
79952235847
-
Usefulness of S100B protein in neurological disorders [J]
-
Yardan T, Erenler A K, Baydin A, et al. Usefulness of S100B Protein in Neurological Disorders [J]. J Pak Med Assoc, 2011, 61(3): 276-281.
-
(2011)
J Pak Med Assoc
, vol.61
, Issue.3
, pp. 276-281
-
-
Yardan, T.1
Erenler, A.K.2
Baydin, A.3
-
18
-
-
79952780456
-
S100B protein in neurodegenerative disorders[ J]
-
Steiner J, Bogerts B, Schroeter M L, et al. S100B protein in neurodegenerative disorders[ J]. Clin Chem lab Med, 2011, 49 (3): 409424.
-
(2011)
Clin Chem Lab Med
, vol.49
, Issue.3
, pp. 409424
-
-
Steiner, J.1
Bogerts, B.2
Schroeter, M.L.3
-
19
-
-
33646918007
-
Reliability and validity of the International Cooperative Ataxia Rating Scale: A study in 156 spinocerebellar ataxia patients
-
DOI 10.1002/mds.20781
-
Schmitz-Hubsch T, Tezenas du Monteel S, Baliko L, et al. Reliability and validity of the international cooperative ataxia rating scale: A study in 156 spinocerebellar ataxia patients [J]. Mov Disord, 2006, 21(5): 699-704. (Pubitemid 43792755)
-
(2006)
Movement Disorders
, vol.21
, Issue.5
, pp. 699-704
-
-
Schmitz-Hubsch, T.1
Tezenas Du Monteel, S.2
Baliko, L.3
Boesch, S.4
Bonato, S.5
Fancellu, R.6
Giunti, P.7
Globas, C.8
Kang, J.-S.9
Kremer, B.10
Mariotti, C.11
Melegh, B.12
Rakowicz, M.13
Rola, R.14
Romano, S.15
Schols, L.16
Szymanski, S.17
Van De, W.B.P.C.18
Zdzienicka, E.19
Durr, A.20
Klockgether, T.21
more..
-
20
-
-
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, Tezenas du Monteel S, Baliko L, et al. Scale for the assessment and rating of ataxia development of a new clinical scale[J]. Neurology, 2006, 66(11): 1717-1720. (Pubitemid 43964628)
-
(2006)
Neurology
, vol.66
, Issue.11
, pp. 1717-1720
-
-
Schmitz-Hubsch, T.1
Tezenas Du Monteel, S.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, W.B.P.20
Durr, A.21
Klockgether, T.22
more..
-
21
-
-
74249090631
-
Update on protein biomarkers in traumatic brain injury with emphasis on clinical use in adults and pediatrics[J]
-
] Kövesdi E, Lückl J, Bukovics P, et al. Update on protein biomarkers in traumatic brain injury with emphasis on clinical use in adults and pediatrics[J]. Acta Neurochir, 2010, 152(1): 1-17.
-
(2010)
Acta Neurochir
, vol.152
, Issue.1
, pp. 1-17
-
-
Kövesdi, E.1
Lückl, J.2
Bukovics, P.3
-
22
-
-
78149345690
-
Neuron-specific enolase and S 100B protein as predictors of outcome in ischaemic stroke[J]
-
Kaca-Orynska M, Tomasiuk R, Friedman A. Neuron-specific enolase and S 100B protein as predictors of outcome in ischaemic stroke[J]. Neurol Neurochir Pol, 2010, 44, (5): 459-463.
-
(2010)
Neurol Neurochir Pol
, vol.44
, Issue.5
, pp. 459-463
-
-
Kaca-Orynska, M.1
Tomasiuk, R.2
Friedman, A.3
-
23
-
-
79952200161
-
Serum neuron-specific enolase level as a biomarker in differential diagnosis of seizure and syncope[J]
-
Lee S Y, Choi Y C, Kim J H, et al. Serum neuron-specific enolase level as a biomarker in differential diagnosis of seizure and syncope[J]. J Neurol, 2010, 257(10): 1708-1712.
-
(2010)
J Neurol
, vol.257
, Issue.10
, pp. 1708-1712
-
-
Lee, S.Y.1
Choi, Y.C.2
Kim, J.H.3
-
24
-
-
50849136540
-
Cerebrospinal fluid neuron-specific enolase: A further marker of Alzheimers disease? [J]
-
Palumbo B, Siepi D, Sabalich I, et al. Cerebrospinal fluid neuron-specific enolase: a further marker of Alzheimer's disease? [J]. Funct Neurol, 2008, 23(2): 93-96.
-
(2008)
Funct Neurol
, vol.23
, Issue.2
, pp. 93-96
-
-
Palumbo, B.1
Siepi, D.2
Sabalich, I.3
-
25
-
-
0033697079
-
Elevation of neuron-specific enolase in serum and cerebrospinal fluid of early stage Creutzfeldt-Jakob disease[J]
-
Kohira I, Tsuji T, Ishizu H, et al. Elevation of neuron-specific enolase in serum and cerebrospinal fluid of early stage Creutzfeldt-Jakob disease[J]. Acta Neurol Scand, 2000, 102(6): 385-387.
-
(2000)
Acta Neurol Scand
, vol.102
, Issue.6
, pp. 385-387
-
-
Kohira, I.1
Tsuji, T.2
Ishizu, H.3
-
26
-
-
9444288079
-
S100B and NSE serum concentrations in Machado Joseph disease
-
DOI 10.1016/j.cccn.2004.08.010, PII S0009898104004152
-
Tort A B, Portela I. V, Rockenbach I C, et al. S100B and NSE serum concentrations in Machado Joseph disease [J]. Clinica Chimica Acta, 2005, 351 (1/2) :143-148. (Pubitemid 39563568)
-
(2005)
Clinica Chimica Acta
, vol.351
, Issue.1-2
, pp. 143-148
-
-
Tort, A.B.L.1
Portela, L.V.C.2
Rockenbach, I.C.3
Monte, T.L.4
Pereira, M.L.5
Souza, D.O.6
Rieder, C.R.M.7
Jardim, L.B.8
-
27
-
-
59449110645
-
Serum Concentrations of s100b and NSE in Migraine[J]
-
Teepker M, Munk K, Mylius V, et al. Serum Concentrations of s100b and NSE in Migraine[J]. Headach, 2009, 49(2): 245-252.
-
(2009)
Headach
, vol.49
, Issue.2
, pp. 245-252
-
-
Teepker, M.1
Munk, K.2
Mylius, V.3
-
28
-
-
33744455705
-
Raised serum S100B protein levels in neuropsychiatric lupus
-
DOI 10.1136/ard.2005.048330
-
Schenatto C B, Xavier R M, Bredemeier M, et al. Raised serum S100B protein levels in neuropsychiatrie lupus[J]. Ann Rheum Dis, 2006, 65(6): 829-831. (Pubitemid 43799188)
-
(2006)
Annals of the Rheumatic Diseases
, vol.65
, Issue.6
, pp. 829-831
-
-
Schenatto, C.B.1
Xavier, R.M.2
Bredemeier, M.3
Portela, L.V.C.4
Tort, A.B.L.5
Dedavid, E.6
Souza, D.O.7
Brenol, J.C.T.8
-
29
-
-
67849119971
-
Glial fibrillary acidic protein and protein S100B: Different concentration pattern of glial proteins in cerebrospinal fluid of patients with Alzheimer's disease and Creutzfeldt-Jakob disease[J]
-
Jesse S, Steinacker P, Cepek L, et al. Glial fibrillary acidic protein and protein S100B: different concentration pattern of glial proteins in cerebrospinal fluid of patients with Alzheimer's disease and Creutzfeldt-Jakob disease[J]. J Alzheimers Dis, 2009, 17(3) : 541-551.
-
(2009)
J Alzheimers Dis
, vol.17
, Issue.3
, pp. 541-551
-
-
Jesse, S.1
Steinacker, P.2
Cepek, L.3
-
30
-
-
0037461571
-
Cerebrospinal fluid S100B correlates with brain atrophy in Alzheimer's disease
-
DOI 10.1016/S0304-3940(02)01257-0
-
Petzold A, Jenkins R, Watt HC, et al. Cerebrospinal fluid S100B correlates with brain atrophy in Alzheimer's disease [J]. Neurosci Lett, 2003, 336(3): 167-170. (Pubitemid 36050109)
-
(2003)
Neuroscience Letters
, vol.336
, Issue.3
, pp. 167-170
-
-
Petzold, A.1
Jenkins, R.2
Watt, H.C.3
Green, A.J.E.4
Thompson, E.J.5
Keir, G.6
Fox, N.C.7
Rossor, M.N.8
-
31
-
-
11144314300
-
S100B and NSE serum levels in patients with Parkinson's disease [J]
-
Schaf D V, Tort A B, Fricke D, et al. S100B and NSE serum levels in patients with Parkinson's disease [J]. Parkinsonism Relat Disord, 2005, 11(1): 3943.
-
(2005)
Parkinsonism Relat Disord
, vol.11
, Issue.1
, pp. 3943
-
-
Schaf, D.V.1
Tort, A.B.2
Fricke, D.3
-
32
-
-
0032535979
-
Decrease of S100 beta protein in serum of patients with amyotrophic lateral sclerosis
-
DOI 10.1016/S0304-3940(97)00947-6, PII S0304394097009476
-
Otto M, Bahn E, Wiltfang J, et al. Decrease of S100 beta protein in serum of patients with amyotrophic lateral sclerosis[ J]. Neurosci Lett, 1998, 240(3): 171-173. (Pubitemid 28079049)
-
(1998)
Neuroscience Letters
, vol.240
, Issue.3
, pp. 171-173
-
-
Otto, M.1
Bahn, E.2
Wiltfang, J.3
Boekhoff, I.4
Beuche, W.5
-
33
-
-
77649330263
-
Serum levels of S100B and NSE proteins in Alzheimer's disease patients [J]
-
M L Chaves, Camozzato A L, Ferreira E D, et al. Serum levels of S100B and NSE proteins in Alzheimer's disease patients [J]. J Neuroinflammation, 2010, 7: 6.
-
(2010)
J Neuroinflammation
, vol.7
, pp. 6
-
-
Chaves, M.L.1
Camozzato, A.L.2
Ferreira, E.D.3
-
34
-
-
79960775251
-
Glial S100B protein modulates mutant ataxin-1 aggregation and toxicity: TRTK12 Peptide, a potential candidate for SCA1 therapy[J]
-
Vig P J, Hearst S, Shao Q, et al. Glial S100B protein modulates mutant ataxin-1 aggregation and toxicity: TRTK12 Peptide, a potential candidate for SCA1 therapy[J]. Cerebellum, 2011, 10(2): 254-266.
-
(2011)
Cerebellum
, vol.10
, Issue.2
, pp. 254-266
-
-
Vig, P.J.1
Hearst, S.2
Shao, Q.3
|