Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

Progressive limb spasticity and cerebellar ataxia are frequently found together in clinical practice and form a heterogeneous group of degenerative disorders that are classified either as pure spastic ataxia or as complex spastic ataxia with additional neurological signs. Inheritance is either autos...

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Detalles Bibliográficos
Autores principales: Chelban, Viorica, Patel, Nisha, Vandrovcova, Jana, Zanetti, M. Natalia, Lynch, David S., Ryten, Mina, Botía, Juan A., Bello, Oscar, Tribollet, Eloise, Efthymiou, Stephanie, Davagnanam, Indran, Bashiri, Fahad A., Wood, Nicholas W., Rothman, James E., Alkuraya, Fowzan S., Houlden, Henry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473715/
https://www.ncbi.nlm.nih.gov/pubmed/28575651
http://dx.doi.org/10.1016/j.ajhg.2017.05.009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473715/
https://www.ncbi.nlm.nih.gov/pubmed/28575651
http://dx.doi.org/10.1016/j.ajhg.2017.05.009

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