Minna Pöyhönen

A novel α-synuclein mutation A53E associated with atypical multiple system atrophy and Parkinson's disease-type pathology

Petra Pasanen, Liisa Myllykangas, Maija Siitonen et al. · Neurobiology of Aging · 2014 · 512 citations

Neurodegenerative Diseases, Medicine, Genetics +5

The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families

Robert Clark, M. Hutton, M. Fuldner et al. · Nature Genetics · 1995 · 470 citations

Allelic Variant, Genetic Disorder, Genetics +7

Distinctive Cancer Associations in Patients With Neurofibromatosis Type 1

Elina Uusitalo, Matti Rantanen, Roope A. Kallionpää et al. · Journal of Clinical Oncology · 2016 · 386 citations

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1

Richard Crook, Auli Verkkoniemi, Jordi Pérez‐Tur et al. · Nature Medicine · 1998 · 346 citations

Unusual Plaques, Alzheimer's Disease, Creutzfeldt-jakob Disease +10

Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease

Chun Kung, Jeanette T. Pingel, Markku Heikinheimo et al. · Nature Medicine · 2000 · 307 citations

Primary Immunodeficiency, Autoimmune Disease, Human Retrovirus +9