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Neurología, ISSN 0213-4853, 2014, Volume 32, Issue 6, pp. 386 - 393
Resumen Introducción-objetivos Describir la historia del descubrimiento de la SCA36 y revisar los conocimientos actuales sobre esta entidad que, por un efecto... 
Neurology | NOP56 | Hereditary ataxias | Expansión de hexanucleótido | Hexanucleotide expansion | Heredoataxias | Costa da Morte ataxia | Spinocerebellar ataxia type 36 | Ataxia espinocerebelosa tipo 36 | Ataxia da Costa da Morte
Journal Article
Neurología (English Edition), ISSN 2173-5808, 07/2017, Volume 32, Issue 6, pp. 386 - 393
To describe the history of the discovery of SCA36 and review knowledge of this entity, which is currently the most prevalent hereditary ataxia in Galicia... 
NOP56 | Hereditary ataxias | Expansión de hexanucleótido | Hexanucleotide expansion | Heredoataxias | Costa da Morte ataxia | Spinocerebellar ataxia type 36 | Ataxia espinocerebelosa tipo 36 | Ataxia da Costa da Morte
Journal Article
Neurologia, ISSN 0213-4853, 07/2017, Volume 32, Issue 6, pp. 386 - 393
Introduction-objective To describe the history of the discovery of SCA36 and review knowledge of this entity, which is currently the most prevalent hereditary... 
NOP56 | Hexanucleotide expansion | Hereditary ataxias | Costa da Morte ataxia | Spinocerebellar ataxia type 36
Journal Article
Neurología, ISSN 0213-4853, 05/2019
Journal Article
by Kaput, J and Cotton, R.G and Hardman, L and Watson, M and Aqeel, A.I. Al and Al-Aama, J.Y and Al-Mulla, F and Alonso, S and Aretz, S and Auerbach, A.D and Bapat, B and Bernstein, I.T and Bhak, J and Bleoo, S.L and Blocker, H and Brenner, S.E and Burn, J and Bustamante, M and Calzone, R and Cambon-Thomsen, A and Cargill, M and Carrera, P and Cavedon, L and Cho, Y.S and Chung, Y.J and Claustres, M and Cutting, G and Dalgleish, R and Dunnen, J.T. den and Diaz, C and Dobrowolski, S and Santos, M.R. dos and Ekong, R and Flanagan, S.B and Flicek, P and Furukawa, Y and Genuardi, M and Ghang, H and Golubenko, M.V and Greenblatt, M.S and Hamosh, A and Hancock, J.M and Hardison, R and Harrison, T.M and Hoffmann, R and Horaitis, R and Howard, H.J and Barash, C.I and Izagirre, N and Jung, J and Kojima, T and Laradi, S and Lee, Y.S and Lee, J.Y and Gil-da-Silva-Lopes, V.L and Macrae, F.A and Maglott, D and Marafie, M.J and Marsh, S.G and Matsubara, Y and Messiaen, L.M and Moslein, G and Netea, M.G and Norton, M.L and Oefner, P.J and Oetting, W.S and O'Leary, J.C and Ramirez, A.M. de and Paalman, M.H and Parboosingh, J and Patrinos, G.P and Perozzi, G and Phillips, I.R and Povey, S and Prasad, S and Qi, M and Quin, D.J and Ramesar, R.S and Richards, C.S and Savige, J and Scheible, D.G and Scott, R.J and Seminara, D and Shephard, E.A and Sijmons, R.H and Smith, T.D and Sobrido, M.J and Tanaka, T and Tavtigian, S.V and Taylor, G.R and Teague, J and Topel, T and Ullman-Cullere, M and Utsunomiya, J and Kranen, H.J. van and Vihinen, M and Webb, E and Weber, T.K and Yeager, M and Human Variome Project Planning and Contributors to the Human Variome Project Planning Meeting and on behalf of contributors to the Human Variome Project Planning Meeting
Human Mutation, ISSN 1059-7794, 2009, Volume 30, Issue 4, pp. 496 - 510
Journal Article
Journal of Biomedical Informatics, ISSN 1532-0464, 06/2013, Volume 46, Issue 3, pp. 388 - 400
Journal Article
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 01/2010, Volume 153, Issue 1, pp. 177 - 184
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 2013, Volume 333, pp. e446 - e447
Journal Article
Molecular Diagnosis and Therapy, ISSN 1177-1062, 06/2017, Volume 21, Issue 3, pp. 303 - 313
Journal Article
Clinical Neurophysiology, ISSN 1388-2457, 2010, Volume 121, pp. S233 - S233
Journal Article
Neurology, ISSN 0028-3878, 12/2004, Volume 63, Issue 11, pp. 2165 - 2167
Familial idiopathic basal ganglia calcification (IBGC, Fahr disease) is an inherited neurologic condition characterized by basal ganglia and extra-basal... 
CHROMOSOME 14Q | LOCUS | BILATERAL STRIOPALLIDODENTATE CALCINOSIS | CLINICAL NEUROLOGY | Calcinosis - genetics | Neurologic Examination | Genes, Dominant | Basal Ganglia Diseases - genetics | Pedigree | Humans | Female | Male | Chromosomes, Human, Pair 14 - genetics | Genetic Heterogeneity | Lod Score | Index Medicus | Abridged Index Medicus
Journal Article
Neurología, ISSN 0213-4853, 2010, Volume 26, Issue 3, pp. 129 - 136
Resumen Introducción La expansión de los estudios genéticos está transformando la práctica de la Neurología y enfrenta a los servicios clínicos con nuevos... 
Neurology | Test predictivos | Neurogenética | Enfermedades raras | Rare disorders | Genetic counseling | Análisis genéticos | Neurogenetics | Genetic tests | Legislation | Asesoramiento genético | Predictive testing | Legislación
Journal Article
Clinical Genetics, ISSN 0009-9163, 2014, Volume 85, Issue 2, pp. 154 - 158
Hereditary spastic paraplegias constitute a heterogeneous group of neurodegenerative diseases encompassing pure and complicated forms, for which at least 52... 
Journal Article
Neurologia, ISSN 0213-4853, 04/2011, Volume 26, Issue 3, pp. 129 - 136
Introduction: The generalization of genetic studies is transforming the practice of Neurology and confronts the clinical departments with new challenges, such... 
Rare disorders | Genetic counseling | Neurogenetics | Genetic tests | Legislation | Predictive testing
Journal Article
Cerebellum, ISSN 1473-4222, 2015, Volume 14, Issue 3, pp. 378 - 381
Journal Article
Case Reports in Neurology, ISSN 1662-680X, 04/2011, Volume 3, Issue 1, pp. 86 - 90
Neurofibromatosis type 1 (NF1) is a multisystem disease with autosomal dominant inheritance and complete penetrance diagnosed by clinical findings. Cutaneous... 
Published: April 2011 | c.2970_2972delAAT | De novo mutation | Neurofibromatosis | NF1 | Neurofibromas | Genotype-phenotype correlation | Diagnosis
Journal Article
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