Josja Graafland
Rotterdam, ZH, Netherlands
Last Updated: 09/26/2026
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Found 8 publications
The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN.
Journal: Parkinsonism & related disorders
Published: November 18, 2016
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: November 17, 2015
PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: November 12, 2015
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.
Journal: Annals of neurology
Published: September 01, 2015
Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family.
Journal: Parkinsonism & related disorders
Published: March 27, 2015
Manganese transport disorder: novel SLC30A10 mutations and early phenotypes.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: December 01, 2014
An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate.
Journal: Neurogenetics
Published: July 21, 2014
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
Journal: Human mutation
Published: May 21, 2013
Showing 1-8 of 8
Last Updated: 09/26/2026