Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia

Introduction: Hereditary spastic paraplegia is a clinically and genetically heterogeneous neurological entity that includes more than 80 disorders which share lower limb spasticity as a common feature. Abnormalities in multiple cellular processes are implicated in their pathogenesis, including lipid...

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Detalles Bibliográficos
Autores principales: Yahia, Ashraf, Elsayed, Liena E. O., Valter, Remi, Hamed, Ahlam A. A., Mohammed, Inaam N., Elseed, Maha A., Salih, Mustafa A., Esteves, Typhaine, Auger, Nicolas, Abubaker, Rayan, Koko, Mahmoud, Abozar, Fatima, Malik, Hiba, Adil, Rawaa, Emad, Sara, Musallam, Mhammed Alhassan, Idris, Razaz, Eltazi, Isra Z. M., Babai, Arwa, Ahmed, Elhami A. A., Abd Allah, Amal S. I., Mairey, Mathilde, Ahmed, Ahmed K. M. A., Elbashir, Mustafa I., Brice, Alexis, Ibrahim, Muntaser E., Ahmed, Ammar E., Lamari, Foudil, Stevanin, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8417901/
https://www.ncbi.nlm.nih.gov/pubmed/34489854
http://dx.doi.org/10.3389/fneur.2021.720201

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