Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations

OBJECTIVE: To clinically, genetically, and radiologically characterize a large cohort of SPG7 patients. METHODS: We used data from next-generation sequencing panels for ataxias and hereditary spastic paraplegia to identify a characteristic phenotype that helped direct genetic testing for variations...

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Detalles Bibliográficos
Autores principales: Hewamadduma, Channa A., Hoggard, Nigel, O'Malley, Ronan, Robinson, Megan K., Beauchamp, Nick J., Segamogaite, Ruta, Martindale, Jo, Rodgers, Tobias, Rao, Ganesh, Sarrigiannis, Ptolemaios, Shanmugarajah, Priya, Zis, Panagiotis, Sharrack, Basil, McDermott, Christopher J., Shaw, Pamela J., Hadjivassiliou, Marios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244025/
https://www.ncbi.nlm.nih.gov/pubmed/30533525
http://dx.doi.org/10.1212/NXG.0000000000000279

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