title: Broad clinical phenotype in Parkinsonism associated with a base pair deletion in RAB39B and additional POLG variant.
authors.affiliation: University of Tuebingen, Department of Neurodegeneration, Hertie Institute for Clinical Brain Research and German Center of Neurodegenerative Diseases (DZNE), Tuebingen, Germany.
authors.forename: Max
authors.initials: M
authors.lastname: Güldner
authors.affiliation: University of Tuebingen, Department of Neurodegeneration, Hertie Institute for Clinical Brain Research and German Center of Neurodegenerative Diseases (DZNE), Tuebingen, Germany.
authors.forename: Claudia
authors.initials: C
authors.lastname: Schulte
authors.affiliation: University of Tuebingen, Department of Neurodegeneration, Hertie Institute for Clinical Brain Research and German Center of Neurodegenerative Diseases (DZNE), Tuebingen, Germany.
authors.forename: Ann-Kathrin
authors.initials: AK
authors.lastname: Hauser
authors.affiliation: University of Tuebingen, Department of Neurodegeneration, Hertie Institute for Clinical Brain Research and German Center of Neurodegenerative Diseases (DZNE), Tuebingen, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Gasser
authors.affiliation: University of Tuebingen, Department of Neurodegeneration, Hertie Institute for Clinical Brain Research and German Center of Neurodegenerative Diseases (DZNE), Tuebingen, Germany. Electronic address: Kathrin.Brockmann@uni-tuebingen.de.
authors.forename: Kathrin
authors.initials: K
authors.lastname: Brockmann
mesh_terms: D000328:Adult; D000368:Aged; D000074002:DNA Polymerase gamma / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000000981:diagnostic imaging / Q000235:genetics*; D010641:Phenotype; D017384:Sequence Deletion / Q000235:genetics*; D055815:Young Adult; D020691:rab GTP-Binding Proteins / Q000235:genetics*
chemical_list: D000074002:DNA Polymerase gamma; C413027:POLG protein, human; C547812:Rab39B protein, human; D020691:rab GTP-Binding Proteins
keywords: Intellectual disability; Parkinson; RAB39B; Spastic paraplegia