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Clinical Genetics|August 22, 2025
Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of CiliopathiesLucile Boutaud, Chunmei Li, Candice Moncler, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 28, 2021
CASK related disorder: Epilepsy and developmental outcomeThea Giacomini, Sara Nuovo, Ginevra Zanni, et al.Annals of Neurology|March 24, 2005
Distinguishing the four genetic causes of Jouberts syndrome-related disordersEnza Maria Valente, Sarah E Marsh, Marco Castori, et al.Biomolecules|October 28, 2023
Optical Genome Mapping Enables Detection and Accurate Sizing of <i>RFC1</i> Repeat ExpansionsStefano Facchini, Natalia Dominik, Arianna Manini, et al.International Journal of Molecular Sciences|July 12, 2025
LC-MS/MS-Based Determination of Ambroxol in Human Plasma and Cerebrospinal Fluid: Validation and Applicability in a Phase II Study on GBA-Associated Parkinson's Disease PatientsValentina Franco, Michela Palmisani, Fabiana Colucci, et al.Journal of Neurology|February 1, 2026
The interplay between GBA1 status and age of onset on cognitive, motor and non-motor outcomes in Parkinson's disease: multicenter cross-sectional studyClaudia Ledda, Silvia Gallo, Micol Avenali, et al.Nature|December 15, 2006
An SCN9A channelopathy causes congenital inability to experience painJames J Cox, Frank Reimann, Adeline K Nicholas, et al.Plos Biology|March 17, 2016
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition ZoneChunmei Li, Victor L Jensen, Kwangjin Park, et al.NPJ Parkinson'S Disease|July 8, 2026
Association of GBA1 status and sex with depression severity and progression in Parkinson's diseasePierfrancesco Mitrotti, Micol Avenali, Carlo Alberto Artusi, et al.Cell Death & Disease|September 19, 2018
Establishment of stable iPS-derived human neural stem cell lines suitable for cell therapiesJessica Rosati, Daniela Ferrari, Filomena Altieri, et al.Pageof 36