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Human Mutation|May 1, 2008
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutationsNicole Revencu, Laurence M Boon, John B Mulliken, et al.
American Journal of Human Genetics|June 15, 2007
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersFrancesco Brancati, Giuseppe Barrano, Jennifer L Silhavy, et al.
Science (New York, N.Y.)|January 28, 2012
Evolutionarily assembled cis-regulatory module at a human ciliopathy locusJeong Ho Lee, Jennifer L Silhavy, Ji Eun Lee, et al.
Medrxiv : the Preprint Server for Health Sciences|March 26, 2024
Understanding monogenic Parkinson's disease at a global scaleJohanna Junker, Lara M Lange, Eva-Juliane Vollstedt, et al.
NPJ Parkinson'S Disease|October 17, 2025
Unraveling the role of GBA1 genotype in axial signs response to subthalamic deep brain stimulationFrancesco Bove, Danilo Genovese, Alessandro De Biase, et al.
Brain : a Journal of Neurology|May 10, 2021
RFC1 expansions are a common cause of idiopathic sensory neuropathyRiccardo Currò, Alessandro Salvalaggio, Stefano Tozza, et al.
Neurogenetics|May 16, 2006
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneityGiovanni Stevanin, Giorgia Montagna, Hamid Azzedine, et al.
BMJ Neurology Open|November 29, 2023
Ambroxol as a disease-modifying treatment to reduce the risk of cognitive impairment in <i>GBA</i>-associated Parkinson's disease: a multicentre, randomised, double-blind, placebo-controlled, phase II trial. The AMBITIOUS study protocolFabiana Colucci, Micol Avenali, Rosita De Micco, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 24, 2022
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative diseaseElisa Calì, Sheng-Jia Lin, Clarissa Rocca, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 31, 2013
Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?Katja Lohmann, Alexander Schmidt, Arne Schillert, et al.
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