Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias
Abstract The present study aimed to characterize clinical and molecular data of a large cohort of subjects with childhood-onset hereditary spastic paraplegias (HSPs). A multicenter historical cohort was performed at five centers in Brazil, in which probands and affected relatives' data from con...
Guardado en:
Autores principales: | Gabriela Marchisio Giordani, Fabrício Diniz, Helena Fussiger, Carelis Gonzalez-Salazar, Karina Carvalho Donis, Fernando Freua, Roberta Paiva Magalhães Ortega, Julian Letícia de Freitas, Orlando Graziani Povoas Barsottini, Sergio Rosemberg, Fernando Kok, José Luiz Pedroso, Marcondes Cavalcante França, Jonas Alex Morales Saute |
---|---|
Formato: | article |
Lenguaje: | EN |
Publicado: |
Nature Portfolio
2021
|
Materias: | |
Acceso en línea: | https://doaj.org/article/073d2145390142cba71bb2a8e6f713c7 |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
Ejemplares similares
-
ER Morphology in the Pathogenesis of Hereditary Spastic Paraplegia
por: Sonia Sonda, et al.
Publicado: (2021) -
Hereditary spastic paraplegia initially diagnosed as cerebral palsy
por: Oksana Suchowersky, et al.
Publicado: (2021) -
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
por: Matias Wagner, et al.
Publicado: (2019) -
Single cell morphology distinguishes genotype and drug effect in Hereditary Spastic Paraplegia
por: Gautam Wali, et al.
Publicado: (2021) -
Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia.
por: Xinchao Bian, et al.
Publicado: (2021)