Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)

We aimed to identify clinical, molecular and radiological correlates of activities of daily living (ADL) in patients with cerebellar atrophy caused by PMM2 mutations (PMM2-CDG), the most frequent congenital disorder of glycosylation. Twenty-six PMM2-CDG patients (12 males; mean age 13 ± 11.1 years)...

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Detalles Bibliográficos
Autores principales: Pettinato, Fabio, Mostile, Giovanni, Battini, Roberta, Martinelli, Diego, Madeo, Annalisa, Biamino, Elisa, Frattini, Daniele, Garozzo, Domenico, Gasperini, Serena, Parini, Rossella, Sirchia, Fabio, Sortino, Giuseppe, Sturiale, Luisa, Matthijs, Gert, Morrone, Amelia, Di Rocco, Maja, Rizzo, Renata, Jaeken, Jaak, Fiumara, Agata, Barone, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8360885/
https://www.ncbi.nlm.nih.gov/pubmed/33619652
http://dx.doi.org/10.1007/s12311-021-01242-x

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