Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 5 of 5 for “"Emery-Dreifuss"”.
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El uso de la termografía en la distrofia muscular de Emery-Dreifuss.
La distrofia muscular de Emery-Dreifuss (EDMD; MIM 310300) es una enfermedad neuromuscular rara, crónica y degenerativa caracterizada por: contracturas y rigidez muscular del miembro inferior, miembro superior y raquis, que comienzan en la niñez; una pérdida inicial en una correcta distribución …
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Lamin A and lamin C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disorder characterised by early contractures of the elbows, Achilles tendons and spine, slowly progressive muscle wasting and cardiomyopathy associated with cardiac conduction defect. The autosomal dominant form is caused by mutations in …
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Myogenic Effectors and Disease
… mice recapitulates different manifestations of Emery-Dreifuss muscular dystrophy. Deletion of Net39 caused disruption of nuclear envelope integrity and associated genomic, transcriptional, and metabolic changes that compromised muscle function. Mechanistically, Net39 regulates nuclear …
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Molekulare Charakterisierung von NE81 und CP75, zwei kernhüllen- und centrosomassoziierten Proteinen in Dictyostelium discoideum
… das „Hutchinson-Gilford Progerie Syndrom“, die „Emery-Dreifuss“ Muskeldystrophie und die dilatierte Kardiomyopathie. Trotz der fundamentalen Bedeutung der Lamine, wurden diese bisher nur in Metazoen und nicht in einzelligen Organismen detektiert. Der amöbide Organismus Dictyostelium discoideum …
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Identificazione delle Lamine di tipo A come nuovi substrati della protein chinasi Akt/PKB
… reported finding that patients affected by Emery-Dreifuss muscular dystrophy carry a mutation at Arg 401, in the Akt phosphorylation motif, open new perspective that warrant further investigation in this very important field.