المؤلفون: Wiethoff, S, Xiromerisiou, G, Bettencourt, C, Kioumi, A, Tsiptsios, I, Tychalas, A, Evaggelia, M, George, K, Makris, V, Hardy, J, Houlden, H

المصدر: Journal of the Neurological Sciences , 339 (1-2) pp. 220-222. (2014)

مصطلحات موضوعية: Acanthocytosis, Chorea, Frameshift deletion, McLeod syndromes, Non-CGD, Novel mutation, XK gene, Aged, Amino Acid Sequence, Amino Acid Transport Systems, Neutral, Base Pairing, Exons, Gene Deletion, Hemolysis, Humans, Male, Molecular Sequence Data, Muscular Atrophy, Neuroacanthocytosis, Pedigree, Peripheral Nervous System Diseases

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1419868/1/1-s2.0-S0022510X14000586-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1419868Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1419868/1/1-s2.0-S0022510X14000586-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1419868Test/

المؤلفون: Gami, P., Murray, C., Schottlaender, L., Bettencourt, C., Fernandez, E.D.P., Mudanohwo, E., Mizielinska, S., Polke, J.M., Holton, J.L., Isaacs, A.M., Houlden, H., Revesz, T., Lashley, T.

المصدر: http://dx.doi.org/10.1007/s00401-015-1473-5Test.

مصطلحات موضوعية: Brain, Humans, Dipeptides, Proteins, DNA-Binding Proteins, DNA Repeat Expansion, Aged, 80 and over, C9orf72 Protein

العلاقة: Acta Neuropathologica, 2015; 130(4):599-601; http://hdl.handle.net/2440/120776Test; Revesz, T. [0000-0003-2501-0259]

الإتاحة: https://doi.org/10.1007/s00401-015-1473-5Test
http://hdl.handle.net/2440/120776Test

المؤلفون: Raposo, M, Bettencourt, C, Maciel, P, Gao, F, Ramos, A, Kazachkova, N, Vasconcelos, J, Kay, T, Rodrigues, AJ, Bettencourt, B, Bruges-Armas, J, Geschwind, D, Coppola, G, Lima, M

المساهمون: Universidade do Minho

المصدر: Movement Disorders, vol 30, iss 7
Movement disorders : official journal of the Movement Disorder Society, vol 30, iss 7
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: Adult, Male, Clinical Sciences, and over, Microarray, Neurodegenerative, Young Adult, Rare Diseases, Spinocerebellar ataxia type 3, Clinical Research, ataxin-3, 80 and over, Genetics, Humans, 2.1 Biological and endogenous factors, Ataxin-3, Azores, Aged, Science & Technology, Neurology & Neurosurgery, Neurosciences, Machado-Joseph Disease, Human Movement and Sports Sciences, Middle Aged, Up-Regulation, Brain Disorders, 4.1 Discovery and preclinical testing of markers and technologies, spinocerebellar ataxia type 3, Polyglutamine disease, polyglutamine disease, Neurological, gene expression, Female, Cognitive Sciences, Gene expression, Transcriptome, microarray, Biomarkers, Biotechnology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::88b355ef60befc165c694b3ea90fd8e5Test
https://escholarship.org/uc/item/8pq7j5cfTest

المؤلفون: Gonzalez, C, Gomes, E, Kazachkova, N, Bettencourt, C, Raposo, M, Kay, TT, MacLeod, P, Vasconcelos, J, Lima, M

المصدر: Genet Test Mol Biomarkers , 16 (12) pp. 1363-1368. (2012)

مصطلحات موضوعية: Adult, Aged, Azores, Educational Status, Family, Female, Genetic Testing, Heterozygote, Humans, Machado-Joseph Disease, Male, Middle Aged, Mutation, Psychiatric Status Rating Scales, Young Adult, psy, socio

العلاقة: http://discovery.ucl.ac.uk/1386597Test/

الإتاحة: http://discovery.ucl.ac.uk/1386597Test/