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Frontiers in Neurology|July 14, 2020
Genetic Architecture of Parkinson's Disease in the Indian Population: Harnessing Genetic Diversity to Address Critical Gaps in Parkinson's Disease ResearchRoopa Rajan, K P Divya, Rukmini Mridula Kandadai, et al.Annals of Neurology|November 14, 2023
Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3Jennifer Faber, Moritz Berger, Carlo Wilke, et al.Journal of Medical Genetics|November 6, 2021
Bi-allelic loss-of-function variants in <i>KIF21A</i> cause severe fetal akinesia with arthrogryposis multiplexRuth J Falb, Amelie J Müller, Wolfram Klein, et al.Annals of Neurology|May 29, 2009
SNCA variants are associated with increased risk for multiple system atrophySonja W Scholz, Henry Houlden, Claudia Schulte, et al.Brain : a Journal of Neurology|February 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformationsLucia Laugwitz, Fubo Cheng, Stephan C Collins, et al.Medrxiv : the Preprint Server for Health Sciences|May 10, 2023
Stage-dependent biomarker changes in spinocerebellar ataxia type 3Jennifer Faber, Moritz Berger, Wilke Carlo, et al.Neurobiology of Aging|July 26, 2011
Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's diseaseManu Sharma, Demetrius M Maraganore, John P A Ioannidis, et al.Molecular Psychiatry|May 6, 2018
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorderSuzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, et al.American Journal of Human Genetics|January 3, 2025
EEFSEC deficiency: A selenopathy with early-onset neurodegenerationLucia Laugwitz, Rebecca Buchert, Patricio Olguín, et al.American Journal of Human Genetics|July 25, 2020
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic ParaplegiaRalf A Husain, Mona Grimmel, Matias Wagner, et al.Pageof 32