about
Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutationPopulation-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.Alpha-synuclein repeat variants and survival in Parkinson's diseaseNovel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia.Independent and joint effects of the MAPT and SNCA genes in Parkinson disease.A family with Parkinsonism, essential tremor, restless legs syndrome, and depression.VPS35 mutations in Parkinson diseaseAssociation of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients.Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disordersStrong association between glucocerebrosidase mutations and Parkinson's disease in Sweden.18F-AV-1451 tau PET imaging correlates strongly with tau neuropathology in MAPT mutation carriers.A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction.Clinically meaningful parameters of progression and long-term outcome of Parkinson disease: An international consensus statement.New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.Clinical variability of neuroacanthocytosis syndromes-a series of six patients with long follow-up.Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder.Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: a novel entity?SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies.VPS35 Mutations in Parkinson DiseaseAlpha-synuclein multiplications with parkinsonism, dementia or progressive myoclonus?CHCHD2 and Parkinson's diseaseTNF-alpha induces apoptosis of parietal cellsUnverricht-Lundborg disease-a misnomer?Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosisNationwide prevalence of primary dystonia, progressive ataxia and hereditary spastic paraplegiaLow prevalence of known pathogenic mutations in dominant PD genes: A Swedish multicenter study
P50
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P50
description
researcher
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wetenschapper
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հետազոտող
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name
Andreas Puschmann
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Andreas Puschmann
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Andreas Puschmann
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Andreas Puschmann
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Andreas Puschmann
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type
label
Andreas Puschmann
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Andreas Puschmann
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Andreas Puschmann
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Andreas Puschmann
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Andreas Puschmann
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altLabel
Andreas Puschmann, MD, PhD, Associate Professor in Neurology
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prefLabel
Andreas Puschmann
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Andreas Puschmann
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Andreas Puschmann
@es
Andreas Puschmann
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Andreas Puschmann
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P106
P1153
6603197325
P31
P496
0000-0002-3201-8198