-
1
-
-
79961162688
-
Epidemiol-ogy and population genetics of degenerative ataxias
-
Sequeiros J, Martins S, Silveira I: Epidemiol-ogy and population genetics of degenerative ataxias. Handb Clin Neurol 2011; 103:227-251.
-
(2011)
Handb Clin Neurol
, vol.103
, pp. 227-251
-
-
Sequeiros, J.1
Martins, S.2
Silveira, I.3
-
2
-
-
77950595326
-
Paediatric and adult recessive ataxias (update 6)
-
Morrison PJ: Paediatric and adult recessive ataxias (update 6). Eur J Paediatr Neurol 2010; 14:264-266.
-
(2010)
Eur J Paediatr Neurol
, vol.14
, pp. 264-266
-
-
Morrison, P.J.1
-
3
-
-
39749152745
-
Social economic costs and health-related quality of life in patients with degenerative cerebellar ataxia in Spain
-
DOI 10.1002/mds.21798
-
López-Bastida J, Perestelo-Pérez L, Montón-Alvarez F, Serrano-Aguilar P: Social econom-ic costs and health-related quality of life in pa-tients with degenerative cerebellar ataxia in Spain. Mov Disord 2008; 23:212-217. (Pubitemid 351311550)
-
(2008)
Movement Disorders
, vol.23
, Issue.2
, pp. 212-217
-
-
Lopez-Bastida, J.1
Perestelo-Perez, L.2
Monton-Alvarez, F.3
Serrano-Aguilar, P.4
-
4
-
-
0037066111
-
Spinocerebellar ataxias in the Netherlands: Prevalence and age at onset variance analysis
-
van de Warrenburg BP, Sinke RJ, Ver-schuuren-Bemelmans CC, Scheffer H, Brunt ER, Ippel PF, Maat-Kievit JA, Dooijes D, No-termans NC, Lindhout D, Knoers NV, Kre-mer HP: Spinocerebellar ataxias in the Neth-erlands: prevalence and age at onset variance analysis. Neurology 2002; 58:702-708. (Pubitemid 34211547)
-
(2002)
Neurology
, vol.58
, Issue.5
, pp. 702-708
-
-
Van De Warrenburg, B.P.C.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
-
5
-
-
67649395907
-
Prevalence of he-reditary ataxia and spastic paraplegia in southeast Norway: A population-based study
-
Erichsen AK, Koht J, Stray-Pedersen A, Ab-delnoor M, Tallaksen CM: Prevalence of he-reditary ataxia and spastic paraplegia in southeast Norway: a population-based study. Brain 2009; 132:1577-1588.
-
(2009)
Brain
, vol.132
, pp. 1577-1588
-
-
Erichsen, A.K.1
Koht, J.2
Stray-Pedersen, A.3
Ab-Delnoor, M.4
Tallaksen, C.M.5
-
6
-
-
18944384702
-
Autosomal dominant cerebellar ataxias in Spain: Molecular and clinical correlations, prevalence estimation and survival analysis
-
DOI 10.1111/j.1600-0404.2005.00400.x
-
Infante J, Combarros O, Volpini V, Corral J, Llorca J, Berciano J: Autosomal dominant cerebellar ataxias in Spain: molecular and clinical correlations, prevalence estimation and survival analysis. Acta Neurol Scan 2005; 111:391-399. (Pubitemid 40705310)
-
(2005)
Acta Neurologica Scandinavica
, vol.111
, Issue.6
, pp. 391-399
-
-
Infante, J.1
Combarros, O.2
Volpini, V.3
Corral, J.4
Llorca, J.5
Berciano, J.6
-
7
-
-
0025876335
-
Hereditary ataxias and paraplegias in Canta-bria Spain. An epidemiological and clinical study
-
Polo JM, Calleja J, Combarros O, Berciano J: Hereditary ataxias and paraplegias in Canta-bria, Spain. An epidemiological and clinical study. Brain 1991; 114:855-866.
-
(1991)
Brain
, vol.114
, pp. 855-866
-
-
Polo, J.M.1
Calleja, J.2
Combarros, O.3
Berciano, J.4
-
8
-
-
68849093396
-
Trends in Parkinson's disease related mortal-ity in England and Wales 1993-2006
-
Mylne AQ, Griffiths C, Rooney C, Doyle P: Trends in Parkinson's disease related mortal-ity in England and Wales, 1993-2006. Eur J Neurol 2009; 16:1010-1016.
-
(2009)
Eur J Neurol
, vol.16
, pp. 1010-1016
-
-
Mylne, A.Q.1
Griffiths, C.2
Rooney, C.3
Doyle, P.4
-
9
-
-
0025613666
-
Hereditary ataxias: Epidemiological aspects
-
Werdelin L, Keiding N: Hereditary ataxias: epidemiological aspects. Neuroepidemiology 1990; 9:321-331.
-
(1990)
Neuroepidemiology
, vol.9
, pp. 321-331
-
-
Werdelin, L.1
Keiding, N.2
-
10
-
-
0001709551
-
Definition and comparison of robust nonlinear data smoothing algorithms
-
Velleman PF: Definition and comparison of robust nonlinear data smoothing algorithms. J Am Stat Assoc 1980; 75:609-615.
-
(1980)
J Am Stat Assoc
, vol.75
, pp. 609-615
-
-
Velleman, P.F.1
-
11
-
-
28344449679
-
Bayesian image restoration, with two applications in spatial statistics (with discussion)
-
Besag J, York JC, Mollié A: Bayesian image restoration, with two applications in spatial statistics (with discussion). Ann Inst Statist Math 1991; 43:1-59.
-
(1991)
Ann Inst Statist Math
, vol.43
, pp. 1-59
-
-
Besag, J.1
York, J.C.2
Mollié, A.3
-
12
-
-
0036326215
-
Ataxias y paraplejías hereditarias: Revisión clinicogenética
-
Berciano J, Infante J, Mateo I, Combarras O: Ataxias y paraplejias hereditarias: revisión clínico-genética. Neurología 2002; 17:40-51. (Pubitemid 34831980)
-
(2002)
Neurologia
, vol.17
, Issue.1
, pp. 40-51
-
-
Berciano, J.1
Infante, J.2
Mateo, I.3
Combarros, O.4
-
13
-
-
34250830900
-
Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia
-
DOI 10.1093/nar/gkm271
-
Greene E, Mahishi L, Entezam A, Kumari D, Usdin K: Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its conse-quences in Friedreich ataxia. Nucleic Acids Res 2007; 35:3383-3390. (Pubitemid 47073601)
-
(2007)
Nucleic Acids Research
, vol.35
, Issue.10
, pp. 3383-3390
-
-
Greene, E.1
Mahishi, L.2
Entezam, A.3
Kumari, D.4
Usdin, K.5
-
14
-
-
77950618866
-
Intermediate-dose idebenone and quality of life in Friedreich ataxia
-
Brandsema JF, Stephens D, Hartley J, Yoon G: Intermediate-dose idebenone and quality of life in Friedreich ataxia. Pediatr Neurol 2010; 42:338-342.
-
(2010)
Pediatr Neurol
, vol.42
, pp. 338-342
-
-
Brandsema, J.F.1
Stephens, D.2
Hartley, J.3
Yoon, G.4
-
15
-
-
77955450939
-
A phase 3, double-blind, placebo-controlled Trial of ide-benone in Friedreich ataxia
-
Lynch DR, Perlman SL, Meier T: A phase 3, double-blind, placebo-controlled Trial of ide-benone in Friedreich ataxia. Arch Neurol 2010; 67:941-947.
-
(2010)
Arch Neurol
, vol.67
, pp. 941-947
-
-
Lynch, D.R.1
Perlman, S.L.2
Meier, T.3
-
16
-
-
67649213875
-
Diagnosis and treatment of Friedreich ataxia: A European perspective
-
Schulz JB, Boesch S, Bürk K, Dürr A, Giunti P, Mariotti C, Pousset F, Schöls L, Vankan P, Pandolfo M: Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol 2009; 5:222-234.
-
(2009)
Nat Rev Neurol
, vol.5
, pp. 222-234
-
-
Schulz, J.B.1
Boesch, S.2
Bürk, K.3
Dürr, A.4
Giunti, P.5
Mariotti, C.6
Pousset, F.7
Schöls, L.8
Vankan, P.9
Pandolfo, M.10
-
17
-
-
0029018677
-
Levorotatory form of 5-hydroxytryptophan in Friedreich's ataxia
-
Trouillas P Serratrice G, Laplane D, Rascol A, Augustin P Barroche G, Clanet M, Degos CF, Desnuelle C, Dumas R, et al: Levorotatory form of 5-hydroxytryptophan in Friedreich's ataxia. Results of a double-blind drug-placebo coop-erative study. Arch Neurol 1995; 52: 456-460.
-
(1995)
Results of A Double-blind Drug-placebo Coop-erative Study. Arch Neurol
, vol.52
, pp. 456-460
-
-
Trouillas, P.1
Serratrice, G.2
Laplane, D.3
Rascol, A.4
Augustin, P.5
Barroche, G.6
Clanet, M.7
Degos, C.F.8
Desnuelle, C.9
Dumas, R.10
-
18
-
-
0024318607
-
Patterns of mortality from hereditary ataxias in the United States, 1971 and 1973-1978
-
Leone M, Chandra V, Schoenberg BS: Pat-terns of mortality from hereditary ataxias in the United States, 1971 and 1973-1978. Neu-roepidemiology 1989; 8:193-199. (Pubitemid 19156529)
-
(1989)
Neuroepidemiology
, vol.8
, Issue.4
, pp. 193-199
-
-
Leone, M.1
Chandra, V.2
Schoenberg, B.S.3
-
19
-
-
33644957852
-
Frequency analysis and clinical characterization of different types of spino-cerebellar ataxia in Serbian patients
-
Dragasevic NT, Culjkovic B, Klein C, Ristic A, Keckarevic M, Topisirovic I, Vukosavic S, Svetel M, Kock N, Stefanova E, Romac S, Kostic VS: Frequency analysis and clinical characterization of different types of spino-cerebellar ataxia in Serbian patients. Mov Dis-ord 2006; 21:187-191.
-
(2006)
Mov Dis-ord
, vol.21
, pp. 187-191
-
-
Dragasevic, N.T.1
Culjkovic, B.2
Klein, C.3
Ristic, A.4
Keckarevic, M.5
Topisirovic, I.6
Vukosavic, S.7
Svetel, M.8
Kock, N.9
Stefanova, E.10
Romac, S.11
Kostic, V.S.12
-
20
-
-
0036461155
-
Dissecting the epidemiology of a trinucleotide repeat disease - Example of FRDA in Finland
-
DOI 10.1007/s00439-001-0642-x
-
Juvonen V, Kulmala SM, Ignatius J, Penttinen M, Savontaus ML: Dissecting the epidemiol-ogy of a trinucleotide repeat disease-exam-ple of FRDA in Finland. Hum Genet 2002; 110:36-40. (Pubitemid 36067415)
-
(2002)
Human Genetics
, vol.110
, Issue.1
, pp. 36-40
-
-
Juvonen, V.1
Kulmala, S.-M.2
Ignatius, J.3
Penttinen, M.4
Savontaus, M.-L.5
-
21
-
-
0000560196
-
Epidemiología de la ataxia hereditaria cubana
-
Velázquez-Pérez L, Santos FN, García R, Pan-eque HM, Hechavarría PR: Epidemiología de la ataxia hereditaria cubana. Rev Neurol 2001; 32:606-611.
-
(2001)
Rev Neurol
, vol.32
, pp. 606-611
-
-
Velázquez-Pérez, L.1
Santos, F.N.2
García, R.3
Pan-Eque, H.M.4
Hechavarría, P.R.5
-
22
-
-
4644277325
-
Prevalence of inherited ataxias in the province of Padua, Italy
-
DOI 10.1159/000080092
-
Zortea M, Armani M, Pastorello E, Nunez GF, Lombardi S, Tonello S, Rigoni MT, Zuliani L, Mostacciuolo ML, Gellera C, Di Donato S, Trevisan CP: Prevalence of inherited ataxias in the province of Padua, Italy. Neuroepide-miology 2004; 23:275-280. (Pubitemid 39279477)
-
(2004)
Neuroepidemiology
, vol.23
, Issue.6
, pp. 275-280
-
-
Zortea, M.1
Armani, M.2
Pastorello, E.3
Nunez, G.F.4
Lombardi, S.5
Tonello, S.6
Rigoni, M.T.7
Zuliani, L.8
Mostacciuolo, M.L.9
Gellera, C.10
Di Donato, S.11
Trevisan, C.P.12
-
23
-
-
0034709522
-
Distri-bución de ataxias hereditarias dominantes y ataxia de Friedreich en la población española
-
Mayo Cabrero D, Hernández Cristóbala J, Cantarero Duquea S, Martínez Delgado B, Urioste Azcorra M, Robledo Batanero M, García-Ruiz Espiga P, Benítez Ortiz J: Distri-bución de ataxias hereditarias dominantes y ataxia de Friedreich en la población española. Med Clin (Barc) 2000; 115:121-125.
-
(2000)
Med Clin (Barc)
, vol.115
, pp. 121-125
-
-
Mayo Cabrero, D.1
Hernández Cristóbala, J.2
Cantarero Duquea, S.3
Martínez Delgado, B.4
Urioste Azcorra, M.5
Robledo Batanero, M.6
García-Ruiz Espiga, P.7
Benítez Ortiz, J.8
-
24
-
-
0032777834
-
Spinocerebellar ataxias in Spanish patients: Genetic analysis of familial and sporadic cases
-
DOI 10.1007/s004390050997
-
Pujana MA, Corral J, Gratacòs M, Combarros O, Berciano J, Genís D, Banchs I, Estivill X, Volpini V: Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and spo-radic cases. The Ataxia Study Group. Hum Genet 1999; 104:516-522. (Pubitemid 29370929)
-
(1999)
Human Genetics
, vol.104
, Issue.6
, pp. 516-522
-
-
Pujana, M.A.1
Corral, J.2
Gratacos, M.3
Combarros, O.4
Berciano, J.5
Genis, D.6
Banchs, I.7
Estivill, X.8
Volpini, V.9
Sanchez, A.10
Calopa, M.11
Rosell, J.12
Cervera, C.13
Escudero, D.14
Molina, M.15
Guitart, M.16
Gabau, E.17
Gutierrez, J.A.18
Benitez, J.19
Perez De Colosia, V.20
Villanueva, P.21
more..
-
25
-
-
67651243674
-
Hereditary spastic paraplegia or spinocerebellar ataxia? Not always as easy as it seems
-
Hedera P: Hereditary spastic paraplegia or spinocerebellar ataxia? Not always as easy as it seems. Eur J Neurol 2009; 16:887-888.
-
(2009)
Eur J Neurol
, vol.16
, pp. 887-888
-
-
Hedera, P.1
|