Artículo
Calandra, C.R.; Mocarbel, Y.; Vishnopolska, S.A.; Toneguzzo, V.; Oliveri, J.; Cazado, E.C.; Biagioli, G.; Turjanksi, A.G.; Marti, M. "Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings" (2019) Movement Disorders Clinical Practice. 6(3):259-262
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| Documento: | Artículo |
| Título: | Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings |
| Autor: | Calandra, C.R.; Mocarbel, Y.; Vishnopolska, S.A.; Toneguzzo, V.; Oliveri, J.; Cazado, E.C.; Biagioli, G.; Turjanksi, A.G.; Marti, M. |
| Filiación: | Department of Neurology, Hospital El Cruce, Florencio Varela, Buenos Aires, Argentina Department of Endocrinology, Hospital de Clínicas José de San Martín, Buenos Aires, Argentina Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires. Ciudad Universitaria, Intendente Guiraldes 2160, C1428EGA, Ciudad Autónoma de Buenos Aires, Argentina Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET, Ciudad Universitaria, Intendente Guiraldes 2160, C1428EGA, Ciudad Autónoma de Buenos Aires, Argentina Department of Neurology, Hospital de Clínicas José de San Martín, Buenos Aires, Argentina Department of Clinical Genetics, Hospital El Cruce, Florencio Varela, Buenos Aires, Argentina Bitgenia, Alicia Moreau de Justo, 1750, Buenos Aires, Argentina |
| Año: | 2019 |
| Volumen: | 6 |
| Número: | 3 |
| Página de inicio: | 259 |
| Página de fin: | 262 |
| DOI: | http://dx.doi.org/10.1002/mdc3.12721 |
| Título revista: | Movement Disorders Clinical Practice |
| Título revista abreviado: | Mov. Disord. Clin. Pract. |
| ISSN: | 23301619 |
| Registro: | https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_23301619_v6_n3_p259_Calandra |
Referencias:
- Holmes, G., A form of familial degeneration of the cerebellum (1908) Brain, 30, pp. 466-489
- Margolin, D.H., Kousi, M., Chan, Y.M., Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination (2013) N Engl J Med, 368, pp. 1992-2003
- Hayer, S.N., Deconinck, T., Bender, B., STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations (2017) Orphanet J Rare Dis, 12, p. 31
- Synofzik, M., Gonzalez, M.A., Lourenco, C.M., PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum (2014) Brain, 137, pp. 69-77
- Bernard, G., Vanderver, A., (2012) POLR3-related leukodystrophy, , https://www.ncbi.nlm.nih.gov/books/NBK99167/, Adam MP, Ardinger HH, Pagon RA, (eds). GeneReviews® [Internet]., Seattle (WA) University of Washington, Seattle, 1993–2018., Aug 2 [updated 05/11/2017]., Accessed on May 1, 2018
- Thiffault, I., Wolf, N.I., Forget, D., Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III (2015) Nat Commun, 6, p. 7623
- Richards, S., Aziz, N., Bale, S., Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (2015) Genet Med, 17, pp. 405-424
- Santens, P., Van Damme, T., Steyaert, W., RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder (2015) Neurology, 84, pp. 1760-1766
- Ganos, C., Hersheson, J., Adams, M., Bhatia, K.P., Houlden, H., The 4H syndrome due to RNF216 mutation (2015) Parkinsonism Relat Disord, 21, pp. 1122-1123
- Alqwaifly, M., Bohlega, S., Ataxia and hypogonadotropic hypogonadism with intrafamilial variability caused by RNF216 mutation (2016) Neurol Int, 8, p. 6444
Citas:
---------- APA ----------
Calandra, C.R., Mocarbel, Y., Vishnopolska, S.A., Toneguzzo, V., Oliveri, J., Cazado, E.C., Biagioli, G.,..., Marti, M. (2019) . Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings. Movement Disorders Clinical Practice, 6(3), 259-262.http://dx.doi.org/10.1002/mdc3.12721
---------- CHICAGO ----------
Calandra, C.R., Mocarbel, Y., Vishnopolska, S.A., Toneguzzo, V., Oliveri, J., Cazado, E.C., et al. "Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings" . Movement Disorders Clinical Practice 6, no. 3 (2019) : 259-262.http://dx.doi.org/10.1002/mdc3.12721
---------- MLA ----------
Calandra, C.R., Mocarbel, Y., Vishnopolska, S.A., Toneguzzo, V., Oliveri, J., Cazado, E.C., et al. "Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings" . Movement Disorders Clinical Practice, vol. 6, no. 3, 2019, pp. 259-262.http://dx.doi.org/10.1002/mdc3.12721
---------- VANCOUVER ----------
Calandra, C.R., Mocarbel, Y., Vishnopolska, S.A., Toneguzzo, V., Oliveri, J., Cazado, E.C., et al. Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings. Mov. Disord. Clin. Pract. 2019;6(3):259-262.http://dx.doi.org/10.1002/mdc3.12721
