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Results 1 to 25 of 5305

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Spontaneous and induced chromosome breakage in chorionic villus samples: a cytogenetic approach to first trimester prenatal diagnosis of ataxia telangiectasia syndromeLLERENA, J. JR; MURER-ORLANDO, M; MCGUIRE, M et al.Journal of medical genetics. 1989, Vol 26, Num 3, pp 174-178, issn 0022-2593, 5 p.Article

Altered frequency-dependent inactivation and steady-state inactivation of polyglutamine -expanded α1A in SCA6HAIYAN CHEN; PIEDRAS-RENTERIA, Erika S.American journal of physiology. Cell physiology. 2007, Vol 61, Num 3, issn 0363-6143, C1078-C1086Article

The clinical, pathological and genetic aspects of sporadic late onset cerebellar ataxia: observations on a series of ten patientsKUMAR, D; TIMPERLEY, W. R.Acta neurologica scandinavica. 1988, Vol 37, Num 3, pp 181-186, issn 0001-6314Article

Usefulness of the Scale for Assessment and Rating of Ataxia (SARA)YABE, Ichiro; MATSUSHIMA, Masaaki; SOMA, Hiroyuki et al.Journal of the neurological sciences. 2008, Vol 266, Num 1-2, pp 164-166, issn 0022-510X, 3 p.Article

Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disordersMANTUANO, E; VENEZIANO, L; JODICE, C et al.Cytogenetic and genome research. 2003, Vol 100, Num 1-4, pp 147-153, issn 1424-8581, 7 p.Article

Spinocerebellar ataxia type 17 in the Yugoslav populationALENDAR, A; CULJKOVIC, B; SAVIC, D et al.Acta neurologica scandinavica. 2004, Vol 109, Num 3, pp 185-187, issn 0001-6314, 3 p.Article

Spinocerebellar ataxia 7 (SCA7)LEBRE, A.-S; BRICE, A.Cytogenetic and genome research. 2003, Vol 100, Num 1-4, pp 154-163, issn 1424-8581, 10 p.Article

The hereditary spinocerebellar ataxias in JapanSASAKI, H; YABE, I; TASHIRO, K et al.Cytogenetic and genome research. 2003, Vol 100, Num 1-4, pp 198-205, issn 1424-8581, 8 p.Article

Falls in degenerative cerebellar ataxiasVAN DE WARRENBURG, Bart P. C; STEIJNS, Janneke A. G; MUNNEKE, Marten et al.Movement disorders. 2005, Vol 20, Num 4, pp 497-500, issn 0885-3185, 4 p.Article

Cerebellar ataxia in the eastern and southern parts of NorwayKOHT, J; TALLAKSEN, C. M. E.Acta neurologica Scandinavica. Supplementum. 2007, Vol 115, Num 187, pp 76-79, issn 0065-1427, 4 p.Conference Paper

Uncommon features in Cuban families affected with Friedreich ataxiaCRUZ-MARINO, Tania; GONZALEZ-ZALDIVAR, Yanetza; LAFFITA-MESA, Jose Miguel et al.Neuroscience letters. 2010, Vol 472, Num 2, pp 85-89, issn 0304-3940, 5 p.Article

Uses of the postural stability test for differential diagnosis of hereditary ataxiasSCHWABOVA, J; ZAHALKA, F; KOMAREK, V et al.Journal of the neurological sciences. 2012, Vol 316, Num 1-2, pp 79-85, issn 0022-510X, 7 p.Article

Phenotype Variability in Spinocerebellar Ataxia Type 2: A Longitudinal Family Survey and a Case Featuring an Unusual Benign Course of DiseaseHERING, Sascha; ACHMÜLLER, Clemens; KÖHLER, Andrea et al.Movement disorders. 2009, Vol 24, Num 5, pp 774-777, issn 0885-3185, 4 p.Article

Autosomal dominant cerebellar ataxias in Spain : molecular and clinical correlations, prevalence estimation and survival analysisINFANTE, J; COMBARROS, O; VOLPINI, V et al.Acta neurologica scandinavica. 2005, Vol 111, Num 6, pp 391-399, issn 0001-6314, 9 p.Article

Molecular genetics of spinocerebellar ataxia type 8 (SCA8)MOSEMILLER, A. K; DALTON, J. C; DAY, J. W et al.Cytogenetic and genome research. 2003, Vol 100, Num 1-4, pp 175-183, issn 1424-8581, 9 p.Article

Ataxic hindbrain thinking: the clumsy cerebellum syndromeLANDAU, W. M.Neurology. 1989, Vol 39, Num 3, pp 315-323, issn 0028-3878Article

Deterioration of spinal reflex in quails orally ingesting clioquinolMORISHITA, S; GOTO, M; FUKUDA, H et al.Journal of pharmacobio-dynamics. 1985, Vol 8, Num 9, pp 751-756, issn 0386-846XArticle

Les syncinésies d'imitation cérébelleuses = Cerebellar imitation synkinesesTROUILLAS, P.Comptes rendus de l'Académie des sciences. Série 3, Sciences de la vie. 1989, Vol 309, Num 19, pp 715-721, issn 0764-4469Article

A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome lp21-q23CHUNG, Ming-Yi; LU, Yi-Chun; CHENG, Nai-Chia et al.Brain. 2003, Vol 126, pp 1293-1299, issn 0006-8950, 7 p., 6Article

Atexia, delayed dentition and hypomyelination : A novel leukoencephalopathyWOLF, N. I; HALTING, I; BOLTSHAUSER, E et al.Neuropediatrics. 2007, Vol 38, Num 2, pp 64-70, issn 0174-304X, 7 p.Article

Late-onset pure cerebellar ataxia : Differentiating those with and without identifiable mutationsKERBER, Kevin A; JEN, Joanna C; PERLMAN, Susan et al.Journal of the neurological sciences. 2005, Vol 238, Num 1-2, pp 41-45, issn 0022-510X, 5 p.Article

A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in Western JapanTERASAWA, Hideo; ODA, Masaya; MORINO, Hiroyuki et al.Neuroscience letters. 2004, Vol 358, Num 2, pp 107-110, issn 0304-3940, 4 p.Article

ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/GypsiesCHAMOVA, Teodora; FLOREZ, Laura; GUERGUELTCHEVA, Velina et al.Journal of neurology. 2012, Vol 259, Num 5, pp 906-911, issn 0340-5354, 6 p.Article

SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG geneKOHT, J; STEVANIN, G; DURR, A et al.Acta neurologica scandinavica. 2012, Vol 125, Num 2, pp 116-122, issn 0001-6314, 7 p.Article

Identification of two mutations for ataxia telangiectasia among the Druze communityFARES, Fuad; RAN, Sivan Axelord; DAVID, Miriam et al.Prenatal diagnosis. 2004, Vol 24, Num 5, pp 358-362, issn 0197-3851, 5 p.Article

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