Výsledky vyhledávání - "D. E. Bulman"

Age of onset in siblings concordant for multiple sclerosis

Autor: George C. Ebers, A D Sadovnick, D. E. Bulman

Publikováno v: Scopus-Elsevier

We have evaluated genetic and environmental influences in multiple sclerosis (MS) by comparing age of onset in 99 sibling pairs concordant for the disease. We used three methods of analysis: (1) comparison of mean differences in age of onset and year

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2e157541802644219c1eef02d6ab6fb
https://doi.org/10.1093/brain/114.2.937

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LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues

Autor: Jodi Warman, Chardon, A C, Smith, J, Woulfe, E, Pena, K, Rakhra, C, Dennie, C, Beaulieu, Lijia, Huang, J, Schwartzentruber, C, Hawkins, M B, Harms, S, Dojeiji, M, Zhang, J, Majewski, D E, Bulman, K M, Boycott, D A, Dyment

Publikováno v: Clinical genetics. 88(6)

Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of genetic disorders leading to progressive muscle degeneration and often associated with cardiac complications. We present two adult siblings with childhood-onset of weakness progressing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f6d29b7616e4049ea5b860674e2b0aad
https://pubmed.ncbi.nlm.nih.gov/25589244

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Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy

Autor: D A, Dyment, E, Sell, M R, Vanstone, A C, Smith, D, Garandeau, V, Garcia, S, Carpentier, E, Le Trionnaire, F, Sabourdy, C L, Beaulieu, J A, Schwartzentruber, H J, McMillan, J, Majewski, D E, Bulman, T, Levade, S, Scherer

Publikováno v: Clinical genetics. 86(6)

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a recently delineated, autosomal recessive condition caused by rare mutations in the N-acylsphingosine amidohydrolase 1 (acid ceramidase) ASAH1 gene. It is characterized by moto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5c7d23f5a7b13ea58c565f36a90b4d19
https://pubmed.ncbi.nlm.nih.gov/24164096

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Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His

Autor: S M, Nikkel, A, Ahmed, A, Smith, J, Marcadier, D E, Bulman, K M, Boycott

Publikováno v: Clinical genetics. 86(4)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0ec4042fd2842ef39463805af0a4b960
https://pubmed.ncbi.nlm.nih.gov/24635597

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Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers

Autor: C J, Klein, D D, Coovert, D E, Bulman, P N, Ray, J R, Mendell, A H, Burghes

Publikováno v: American journal of human genetics. 50(5)

Many Duchenne muscular dystrophy (DMD) patients are known to have rare staining dystrophin-positive fibers, termed "revertants." The precise etiology of these rare fibers is unknown. The most likely explanation, however, is somatic mosaicism or somat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2d0c04ab28aa4a1ccb95a58db74721e2
https://pubmed.ncbi.nlm.nih.gov/1570844

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Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophy. CIDD Study Group

Autor: K L, Burrow, D D, Coovert, C J, Klein, D E, Bulman, J T, Kissel, K W, Rammohan, A H, Burghes, J R, Mendell

Publikováno v: Neurology. 41(5)

The mechanism by which prednisone improves muscle strength and function in Duchenne muscular dystrophy (DMD) is unknown. We addressed the possibility that clinical improvement was related to prednisone-induced alterations in skeletal muscle dystrophi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b5578eb9eaed8ceb5a08450206025e2a
https://pubmed.ncbi.nlm.nih.gov/1922835

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Genetic and biochemical determinations in the pre-transplant workup and in the post-transplant assessment period

Autor: R G, Worton, D E, Bulman, E E, Zubrzycka-Gaarn, P N, Ray

Publikováno v: Advances in experimental medicine and biology. 280

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::046d46c244ff40ea4a6032caa28ec99a
https://pubmed.ncbi.nlm.nih.gov/2248141

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Allele frequencies of the third component of complement (C3) in MS patients

Autor: George C. Ebers, H Armstrong, D. E. Bulman

Publikováno v: Scopus-Elsevier

No difference was found in the allele frequency of C3 (third component of complement) in 129 multiple sclerosis (MS) patients compared with both 69 controls or with similar reported controls from the published literature. An association cannot be con

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cecfe814ca3135073c56bdc4767063ad
https://doi.org/10.1136/jnnp.54.6.554

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Premature chain termination mutation causing Duchenne muscular dystrophy

Autor: Charles T. Caskey, R. G. Fenwick, Paula R. Clemens, D. E. Bulman, Patricia A. Ward

Publikováno v: Neurology. 42:1775-1775

We identified a premature chain termination mutation in two brothers with Duchenne muscular dystrophy and correlated the mutation in one of the brothers with immunologic detection of dystrophin in skeletal muscle. Southern and polymerase chain reacti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92d558a7a6eaf0abadf32bc359b3a02d
https://doi.org/10.1212/wnl.42.9.1775

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