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Neurology|March 29, 2013
The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson diseaseZiv Gan-Or, Laurie J Ozelius, Anat Bar-Shira, et al.
Frontiers in Human Neuroscience|July 17, 2020
Secondary Worsening Following DYT1 Dystonia Deep Brain Stimulation: A Multi-country CohortTakashi Tsuboi, Laura Cif, Philippe Coubes, et al.
The Lancet. Neurology|April 18, 2014
Distinct neurological disorders with ATP1A3 mutationsErin L Heinzen, Alexis Arzimanoglou, Allison Brashear, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 25, 2004
Distribution, type, and origin of Parkin mutations: review and case studiesKatja Hedrich, Cordula Eskelson, Beth Wilmot, et al.
Epilepsia|February 7, 2015
Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephalyAlex R Paciorkowski, Sharon S McDaniel, Laura A Jansen, et al.
Human Genetics|April 30, 2018
High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputationTodd Lencz, Jin Yu, Cameron Palmer, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 19, 2007
G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophyLaurie J Ozelius, Tatiana Foroud, Susanne May, et al.
Genomics|September 6, 2002
DEFOG: a practical scheme for deciphering families of genesTania Fuchs, Barbora Malecova, Chaim Linhart, et al.
Annals of Neurology|October 29, 2002
Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutationsChristine Klein, Liu Liu, Dana Doheny, et al.
Neurology|August 22, 2022
Association of Olfactory Performance With Motor Decline and Age at Onset in People With Parkinson Disease and the LRRK2 G2019S VariantRachel Saunders-Pullman, Roberto Angel Ortega, Cuiling Wang, et al.
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