De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation

Distal hereditary motor neuropathies (HMNs) and axonal Charcot-Marie-Tooth neuropathy (CMT2) are clinically and genetically heterogeneous diseases characterized primarily by motor neuron degeneration and distal weakness. The genetic cause for about half of the individuals affected by HMN/CMT2 remain...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Am J Hum Genet
Autores principales: Mendoza-Ferreira, Natalia, Karakaya, Mert, Cengiz, Nur, Beijer, Danique, Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Fuhrmann, Nico, Hölker, Irmgard, Thelen, Maximilian P., Zetzsche, Sebastian, Rombo, Roman, Puffenberger, Erik G., De Jonghe, Peter, Deconinck, Tine, Zuchner, Stephan, Strauss, Kevin A., Carson, Vincent, Schrank, Bertold, Wunderlich, Gilbert, Baets, Jonathan, Wirth, Brunhilde
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2020
Materias:
Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7491385/
https://ncbi.nlm.nih.gov/pubmed/32937143
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.08.018
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares