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Pia Winter

University of Giessen

27

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881

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Epigenome-wide DNA methylation profiling in Progressive Supranuclear Palsy reveals major changes at DLX1

2018 Nature Communications
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Previously Unrecognized Missense Mutation E126K of PSEN2 Segregates with Early Onset Alzheimer's Disease in a Family

2014 Journal of Alzheimer's Disease
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A presenilin 1 mutation in the first case of Alzheimer's disease

2013 Lancet Neurology
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DYT7 Gene Locus for Cervical Dystonia on Chromosome 18p Is Questionable

2012 Movement Disorders
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Alois Alzheimer's Case, Auguste D., Did Not Carry the N141I Mutation in PSEN2 Characteristic of Alzheimer Disease in Volga Germans

2011 JAMA Neurology
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Erratum to: The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families

2010 Journal of Neurology
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Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9–2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP)

2009 Neurogenetics
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IAHSP caused by maternal uniparental isodisomy in ALS2

2008 Neuropediatrics
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Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe

2008 European Journal of Human Genetics
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Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings.

2008 Clinical Genetics
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Citations (17)