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Human Mutation|April 14, 2025
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual DisabilityAmélie Cordovado, Yvan Hérenger, Coline Cormier, et al.Brain : a Journal of Neurology|September 8, 2022
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disabilityChristina Fevga, Christelle Tesson, Ana Carreras Mascaro, et al.Annals of Neurology|October 13, 2020
Characterization of Recessive Parkinson Disease in a Large Multicenter StudySuzanne Lesage, Ariane Lunati, Marion Houot, et al.American Journal of Human Genetics|May 14, 2024
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effectFang Yang, Anais Begemann, Nadine Reichhart, et al.Brain : a Journal of Neurology|June 19, 2022
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegiaLuis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian, et al.Journal of Medical Genetics|July 29, 2021
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disordersAnushree Acharya, Haluk Kavus, Patrick Dunn, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 2, 2022
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorderMarije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, et al.American Journal of Human Genetics|June 19, 2026
De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanismsRebecca Fluri, Mireia Coll-Tané, Theresa Brunet, et al.Clinical Genetics|April 26, 2022
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort studyGuillaume Jouret, Solveig Heide, Arthur Sorlin, et al.American Journal of Human Genetics|July 8, 2023
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegenerationAnnalisa Vetro, Cristiana Pelorosso, Simona Balestrini, et al.Pageof 5