Showing results (41-50 of 52) with videos related to

Sort By:
Pageof 6
Brain : a Journal of Neurology|March 2, 2023
Variants in ATP5F1B are associated with dominantly inherited dystoniaAlessia Nasca, Niccolò E Mencacci, Federica Invernizzi, et al.
Annals of Clinical and Translational Neurology|May 15, 2024
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseasesChiara Cavestro, Francesca Morra, Andrea Legati, et al.
Orphanet Journal of Rare Diseases|May 13, 2017
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutationsAlessia Nasca, Teresa Rizza, Mara Doimo, et al.
Human Mutation|February 26, 2019
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathyDaniela Verrigni, Michela Di Nottia, Anna Ardissone, et al.
Neurology. Genetics|August 15, 2017
Brain calcifications and PCDH12 variantsGaël Nicolas, Monica Sanchez-Contreras, Eliana Marisa Ramos, et al.
Annals of Neurology|March 29, 2020
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic NeuropathyLeonardo Caporali, Stefania Magri, Andrea Legati, et al.
Brain : a Journal of Neurology|February 26, 2016
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearanceCristina Dallabona, Truus E M Abbink, Rosalba Carrozzo, et al.
European Journal of Human Genetics : EJHG|June 30, 2018
Primary brain calcification: an international study reporting novel variants and associated phenotypesEliana Marisa Ramos, Miryam Carecchio, Roberta Lemos, et al.
American Journal of Human Genetics|November 20, 2021
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxiaZheng Yie Yap, Stephanie Efthymiou, Simone Seiffert, et al.
Nature Genetics|May 5, 2015
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate exportAndrea Legati, Donatella Giovannini, Gaël Nicolas, et al.
Pageof 6