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Genetic heterogeneity of motor neuropathies

OBJECTIVE: To study the prevalence, molecular cause, and clinical presentation of hereditary motor neuropathies in a large cohort of patients from the North of England. METHODS: Detailed neurologic and electrophysiologic assessments and next-generation panel testing or whole exome sequencing were pe...

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Detalles Bibliográficos
Autores principales:	Bansagi, Boglarka, Griffin, Helen, Whittaker, Roger G., Antoniadi, Thalia, Evangelista, Teresinha, Miller, James, Greenslade, Mark, Forester, Natalie, Duff, Jennifer, Bradshaw, Anna, Kleinle, Stephanie, Boczonadi, Veronika, Steele, Hannah, Ramesh, Venkateswaran, Franko, Edit, Pyle, Angela, Lochmüller, Hanns, Chinnery, Patrick F., Horvath, Rita
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373778/ https://www.ncbi.nlm.nih.gov/pubmed/28251916 http://dx.doi.org/10.1212/WNL.0000000000003772

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