Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2

BACKGROUND: Hereditary Spastic Paraplegia (HSP) represents a large group of clinically and genetically heterogeneous disorders linked to over 70 different loci and more than 60 recognized disease-causing genes. A heightened vulnerability to disruption of various cellular processes inherent to the un...

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Detalles Bibliográficos
Autores principales: Sambuughin, Nyamkhishig, Goldfarb, Lev G., Sivtseva, Tatiana M., Davydova, Tatiana K., Vladimirtsev, Vsevolod A., Osakovskiy, Vladimir L., Danilova, Al’bina P., Nikitina, Raisa S., Ylakhova, Anastasia N., Diachkovskaya, Margarita P., Sundborger, Anna C., Renwick, Neil M., Platonov, Fyodor A., Hinshaw, Jenny E., Toro, Camilo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628244/
https://www.ncbi.nlm.nih.gov/pubmed/26517984
http://dx.doi.org/10.1186/s12883-015-0481-3

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