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American Journal of Human Genetics|October 3, 2017
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal DefectsRoberta De Mori, Marta Romani, Stefano D'Arrigo, et al.Human Mutation|September 25, 2009
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlationSoumaya Mougou-Zerelli, Sophie Thomas, Emmanuelle Szenker, et al.Movement Disorders : Official Journal of the Movement Disorder Society|July 14, 2020
GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian CohortSimona Petrucci, Monia Ginevrino, Ilaria Trezzi, et al.Journal of Medical Genetics|June 4, 2021
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric studySara Nuovo, Alessia Micalizzi, Romina Romaniello, et al.American Journal of Human Genetics|February 20, 2026
Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndromeValentina Serpieri, Myriam Vezain-Mouchard, Alessia Orsi, et al.Nature Genetics|January 17, 2012
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumJi Eun Lee, Jennifer L Silhavy, Maha S Zaki, et al.Journal of Medical Genetics|October 22, 2021
<i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrumValentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, et al.Annals of Clinical and Translational Neurology|July 1, 2015
Altered PLP1 splicing causes hypomyelination of early myelinating structuresSietske H Kevelam, Jennifer R Taube, Rosalina M L van Spaendonk, et al.Frontiers in Neurology|September 3, 2021
LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic CohortTatiana Usnich, Eva-Juliane Vollstedt, Nathalie Schell, et al.Movement Disorders : Official Journal of the Movement Disorder Society|July 30, 2024
Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global ScaleJohanna Junker, Lara M Lange, Eva-Juliane Vollstedt, et al.Pageof 36