Recurrent and founder mutations in the Netherlands: the cardiac phenotype of founder mutations p.S13F and p.N342D

Autor: E. F. Ippel, A. J. van der Kooi, A. van den Wijngaard, Esther Brusse, J. P. van Tintelen, K. Y. van Spaendonck-Zwarts, M.P. van den Berg, Jessica E. Hoogendijk, Ludolf G. Boven, W. C. Yee, J. D. H. Jongbloed, Pieter A. Doevendans, M. de Visser

Publikováno v: Netherlands Heart Journal, 20(5), 219-228. Bohn, Stafleu, Van Loghum
Netherlands Heart Journal
Netherlands Heart Journal, 20(5), 219-228. Bohn Stafleu van Loghum
Netherlands heart journal, 20(5), 219-228. Bohn Stafleu van Loghum

Background Desmin-related myopathy (DRM) is an autosomally inherited skeletal and cardiac myopathy, mainly caused by dominant mutations in the desmin gene (DES). We describe new families carrying the p.S13F or p.N342D DES mutations, the cardiac pheno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f144b2bc8aa1dba9d7e56ef66218bbbb
https://cris.maastrichtuniversity.nl/en/publications/24c64dc6-132f-4d87-978a-94473a41e4a9

Recurrent and founder mutations in the Netherlands: The cardiac phenotype of des founder mutations p.S13F and p.N342D

Autor: K. Y. van Spaendonck-Zwarts, A. J. van der Kooi, M. P. van den Berg, E. F. Ippel, L. G. Boven, W.-C. Yee, A. van den Wijngaard, E. Brusse, J. E. Hoogendijk, P. A. Doevendans, M. de Visser, J. D. H. Jongbloed, J. P. van Tintelen

Publikováno v: Founder Mutations in Inherited Cardiac Diseases in the Netherlands, 59-68
STARTPAGE=59;ENDPAGE=68;TITLE=Founder Mutations in Inherited Cardiac Diseases in the Netherlands
De Nederlandse gezondheidszorg ISBN: 9789036807043

Background Desmin-related myopathy (DRM) is an autosomally inherited skeletal and cardiac myopathy, mainly caused by dominant mutations in the desmin gene (DES). We describe new families carrying the p.S13F or p.N342D DES mutations, the cardiac pheno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db98da7c355d5afb54635b8a68f62c47
https://pure.amc.nl/en/publications/recurrent-and-founder-mutations-in-the-netherlands(dec94571-54a5-41c8-8cf7-e108bcfcff1d).html

Serum IgM Monoclonal Autoantibody Binding to the 301 to 314 Amino Acid Epitope of Beta-tubulin: Clinical Association with Slowly Progressive Demyelinating Polyneuropathy

Autor: W. N. Devor, C. Fellin, B. J. Green, Robert G. Miller, Anne M. Connolly, Alan Pestronk, Richard K. Olney, Shobhna Mehta, W. C. Yee

Publikováno v: Neurology. 48:243-248

We identified five patients with IgM monoclonal autoantibodies that bound to human brain tubulin.In a companion study, we found that IgM in these sera selectively recognized one of three epitopes on tubulin. IgM from three patients bound selectively

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed73140a781dbba272ed63e980ffa4ca
https://doi.org/10.1212/wnl.48.1.243

Lower motor neuron syndromes defined by patterns of weakness, nerve conduction abnormalities, and high titers of antiglycolipid antibodies

Autor: Alan Pestronk, W. C. Yee, Ralph W. Kuncl, David R. Cornblath, Eva L. Feldman, Richard K. Olney, John W. Griffin, Vinay Chaudhry, M. Glasberg, E. H. Denys

Publikováno v: Annals of Neurology. 27:316-326

We studied 74 patients with progressive, asymmetrical lower motor neuron syndromes. Clinical features of these patients, including age, sex, disease duration, patterns of weakness, and reflex changes, were evaluated by review of records. In each pati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d1958457b0b03dcb04e2a9c35a77180
https://doi.org/10.1002/ana.410270314

Improved neuronal transgene expression from an AAV-2 vector with a hybrid CMV enhancer/PDGF-beta promoter

Autor: W.-C. Yee, Shu Wang, Tit Meng Lim, H. P. Neo, H. Y. Guo, P. Y. K. Hwang, Chao-Yang Wang, Yee-Kong Ng

Publikováno v: The journal of gene medicine. 7(7)

Background Adeno-associated virus type 2 (AAV-2) vectors are highly promising tools for gene therapy of neurological disorders. After accommodating a cellular promoter, AAV-2 vectors are able to drive sustained expression of transgene in the brain. T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e70d6d60410bf79914caa94a5d42dbcb
https://pubmed.ncbi.nlm.nih.gov/15756650