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List of works by Andreas Puschmann

18F-AV-1451 tau PET imaging correlates strongly with tau neuropathology in MAPT mutation carriers

scientific article published on 29 June 2016

A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction

scientific article published on 25 July 2009

A family with Parkinsonism, essential tremor, restless legs syndrome, and depression.

scientific article

Alpha-synuclein multiplications with parkinsonism, dementia or progressive myoclonus?

scientific article published on 27 September 2008

Alpha-synuclein repeat variants and survival in Parkinson's disease

scientific article

An African–American family with dystonia ⬇️

scientific article published on May 20, 2011

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study ⬇️

scientific article published on 30 August 2011

Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis

scientific article published on 26 April 2014

Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: a novel entity?

scientific article published on 13 April 2014

CHCHD2 and Parkinson's disease

scientific article published on 01 July 2015

Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease

scientific article

Clinical variability of neuroacanthocytosis syndromes-a series of six patients with long follow-up

scientific article published on June 2016

Clinically meaningful parameters of progression and long-term outcome of Parkinson disease: An international consensus statement.

scientific article published on May 2015

Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease ⬇️

scientific article published on July 4, 2012

Creation of an open-access, mutation-defined fibroblast resource for neurological disease research

scientific article

DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients.

scientific article

Diagnosis and Treatment of Common Forms of Tremor ⬇️

scientific article published on February 14, 2011

First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation

scientific article

GWAS risk factors in Parkinson's disease: LRRK2 coding variation and genetic interaction with PARK16.

scientific article

Genotype–phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases ⬇️

scientific article published on February 28, 2012

Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

scientific article

Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism

scientific article

Human leukocyte antigen variation and Parkinson's disease

scientific article

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

scientific article

Low prevalence of known pathogenic mutations in dominant PD genes: A Swedish multicenter study

scientific article published on 31 July 2019

Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders

scientific article

Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations ⬇️

scientific article published on February 23, 2013

Nationwide prevalence of primary dystonia, progressive ataxia and hereditary spastic paraplegia

scientific article published on 29 October 2019

New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.

scientific article

Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia.

scientific article

PBB3 imaging in Parkinsonian disorders: Evidence for binding to tau and other proteins

scientific article published in June 2017

Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium

scientific article

Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder

scientific article

Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies

scientific article

Role of Gα(olf) in familial and sporadic adult-onset primary dystonia ⬇️

scientific article (publication date: 15 June 2013)

SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies

scientific article

Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden

scientific article published on 03 May 2016

TNF-alpha induces apoptosis of parietal cells

scientific article published on 01 May 2003

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3

scientific article published on 01 October 2020

Unverricht-Lundborg disease-a misnomer?

scientific article published on 01 March 2009

VPS35 Mutations in Parkinson Disease

scholarly article by Carles Vilariño-Güell et al published August 2011 in American Journal of Human Genetics

VPS35 mutations in Parkinson disease

scientific article

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