Výsledky vyhledávání - "M. Caroline Duncan"

Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome?

Autor: Cristino Dijamco, Catherine McElveen, Marta I. Arriaza, Yves Lacassie, M. Caroline Duncan, Paul F. Stahls

Publikováno v: American Journal of Medical Genetics. 84:90-93

We report on concordantly affected female identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E. The most similar condition reported is the syndrome described by Fitzsimmons and Guilbert in unio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0e7075f7027250f6dff9ac8b0d198a79
https://doi.org/10.1002/(sici)1096-8628(19990521)84:2<90::aid-ajmg2>3.0.co

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Akademický článek

Proceedings of the 47th Annual Southern Pediatric Neurology Society Meeting, New Orleans, LA, March 23, 2024.

Publikováno v: Journal of Child Neurology; May2024, Vol. 39 Issue 5/6, p222-226, 5p

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Examination of Dental Pulp to Diagnose Infantile Neuroaxonal Dystrophy

Autor: John Willis, M. Caroline Duncan, Jose Carlo, Paul McGarry

Publikováno v: Archives of Neurology. 39:422-423

• An 8-year-old child died after a clinical course characteristic of infantile neuroaxonal dystrophy. Typical axonal spheroids were found at autopsy and had been seen on a peripheral nerve biopsy specimen taken before death. Identical histologic ab

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d172b8cd362a559a35f17ec9a2d7596
https://doi.org/10.1001/archneur.1982.00510190040012

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