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Inherited prion disease with A117V mutation of the prion protein gene: a novel Hungarian family

Three members of a family with inherited prion disease are reported. One additional family member had a progressive neurological disease without details. Two developed symptoms of ataxia, dementia, myoclonus, rigidity, and hemiparesis, and one had a different phenotype with the combination of lower...

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Dettagli Bibliografici
Autori principali: Kovacs, G, Ertsey, C, Majtenyi, C, Jelencsik, I, Laszlo, L, Flicker, H, Strain, L, Szirmai, I, Budka, H
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2001
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1737399/
https://ncbi.nlm.nih.gov/pubmed/11385020
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.70.6.802
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