Výsledky vyhledávání - "Catherine Elizabeth Pringle"

Akademický článek

Spinal muscular atrophy type III complicated by spinal superficial siderosis: a case report with molecular and neuropathological findings

Autor: Catherine Elizabeth Pringle, Robert Nelson, Willie Miller, Rashmi Kothary, Jean Michaud

Publikováno v: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-8 (2020)

Abstract Spinal muscular atrophy (SMA) is largely linked to deletion or mutation of the Survival motor neuron 1 (SMN1) gene located on chromosome 5q13. Type III (Kugelberg–Welander disease) is the mildest childhood form and patients may become ambu

Externí odkaz: https://doaj.org/article/c0aa0e53c5d442ec95e342845492a8fd

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Grand Rounds: An Impossible Life

Autor: Catherine Elizabeth Pringle

Publikováno v: Medical humanities. 43(2)

> > Survival. > > > > That's the name of the gene: Survival Motor Neuron. > > > > Ironic that we say her problem was > > > > Not enough “survival”. > > > > But in a way > > > > A proteomic metaphor for her impossible life. > > > Not possible, lif

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cea5313e92da6e7b4259c8183cd9b57
https://pubmed.ncbi.nlm.nih.gov/28069832

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