Pia Winter

Screening and biochemical characterization of transthyretin variants in the Portuguese population

Isabel L. Alves, Klaus Altland, Maria Rosário Almeida et al. · Human Mutation · 1997 · 52 citations

Novel mutation in the <i>ALS2</i> gene in juvenile amyotrophic lateral sclerosis

Julia A. Kress, Peter Kühnlein, Pia Winter et al. · Annals of Neurology · 2005 · 49 citations

A new isoleucine substitution of Val-20 in transthyretin tetramers selectively impairs dimer-dimer contacts and causes systemic amyloidosis.

Dieter E. Jenne, Klaus Denzel, Petra Blätzinger et al. · Proceedings of the National Academy of Sciences · 1996 · 44 citations · Full text

Inherited Amyloidoses, Biochemistry, Genetic Disorder +13

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

Corien C. Verschuuren‐Bemelmans, Pia Winter, Deborah Sival et al. · European Journal of Human Genetics · 2008 · 40 citations

First Cases, Amyotrophic Lateral Sclerosis, Mendelian Disorder +10

Potential treatment of transthyretin-type amyloidoses by sulfite

Klaus Altland, Pia Winter · Neurogenetics · 1999 · 37 citations

Alzheimer's Disease, Medicine, Degenerative Disease +3