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Movement Disorders : Official Journal of the Movement Disorder Society|May 29, 2007
Clinical trials in restless legs syndrome--recommendations of the European RLS Study Group (EURLSSG)Claudia Trenkwalder, Ralf Kohnen, Richard P Allen, et al.
Brain : a Journal of Neurology|June 11, 2025
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathyMaureen Jacob, Heike Kölbel, Philip Harrer, et al.
Annals of Neurology|August 19, 2020
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal AbnormalitiesDora Steel, Michael Zech, Chen Zhao, et al.
Human Mutation|April 13, 2021
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disabilitySonja Neuser, Barbara Brechmann, Gali Heimer, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|June 12, 2024
Neurofilaments and progranulin are related to atrophy in frontotemporal lobar degeneration - A transdiagnostic study cross-validating atrophy and fluid biomarkersLea Hüper, Petra Steinacker, Maryna Polyakova, et al.
Nature Communications|October 23, 2019
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegiaMatias Wagner, Daniel P S Osborn, Ina Gehweiler, et al.
Movement Disorders Clinical Practice|January 31, 2024
Dominant VPS16 Pathogenic Variants: Not Only Isolated DystoniaEdoardo Monfrini, Laura Avanzino, Giovanni Palermo, et al.
Molecular Neurodegeneration|September 27, 2025
A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological featuresChristof Brücke, Mohammed Al-Azzani, Nagendran Ramalingam, et al.
Medrxiv : the Preprint Server for Health Sciences|October 14, 2024
A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological featuresChristof Brücke, Mohammed Al-Azzani, Nagendran Ramalingam, et al.
Nature Genetics|July 29, 2008
PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndromeBarbara Schormair, David Kemlink, Darina Roeske, et al.
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