title: Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome.
authors.affiliation: Department of Human Genetics, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
authors.forename: Marc-Alexander
authors.initials: MA
authors.lastname: Rauschendorf
authors.affiliation: Department of Neurology, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
authors.forename: Meike
authors.initials: M
authors.lastname: Jost
authors.affiliation: Department of Human Genetics, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
authors.forename: Friedrich
authors.initials: F
authors.lastname: Stock
authors.affiliation: Department of Human Genetics, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
authors.forename: Andreas
authors.initials: A
authors.lastname: Zimmer
authors.affiliation: Department of Human Genetics, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
authors.forename: Bernd
authors.initials: B
authors.lastname: Rösler
authors.affiliation: Department of Neurology, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
authors.forename: Michel
authors.initials: M
authors.lastname: Rijntjes
authors.affiliation: Department of Neurology, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
authors.forename: Tobias
authors.initials: T
authors.lastname: Piroth
authors.affiliation: Department of Stereotactic and Functional Neurosurgery, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
authors.forename: Volker Arnd
authors.initials: VA
authors.lastname: Coenen
authors.affiliation: Department of Stereotactic and Functional Neurosurgery, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
authors.forename: Peter Christoph
authors.initials: PC
authors.lastname: Reinacher
authors.affiliation: Department of Nuclear Medicine, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
authors.forename: Philipp T
authors.initials: PT
authors.lastname: Meyer
authors.affiliation: Department of Nuclear Medicine, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
authors.forename: Lars
authors.initials: L
authors.lastname: Frings
authors.affiliation: Department of Neurology, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
authors.forename: Cornelius
authors.initials: C
authors.lastname: Weiller
authors.affiliation: Department of Human Genetics, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
authors.forename: Judith
authors.initials: J
authors.lastname: Fischer
authors.affiliation: Department of Neurology, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
authors.forename: Stephan
authors.initials: S
authors.lastname: Klebe
mesh_terms: D000978:Antiparkinson Agents / Q000627:therapeutic use*; D003342:Corpus Striatum / Q000000981:diagnostic imaging / Q000187:drug effects; D020821:Dystonic Disorders / Q000150:complications / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008297:Male; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000150:complications / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics; D010375:Pedigree; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D015899:Tomography, Emission-Computed, Single-Photon
chemical_list: D000978:Antiparkinson Agents; D009419:Nerve Tissue Proteins; D007980:Levodopa; C097702:synaptojanin; D010744:Phosphoric Monoester Hydrolases