Zobrazeno 1 - 10
of 42
pro vyhledávání: '"M Buddles"'
Autor:
Sean Connolly, Sunita Sukuraman, Robert W. Taylor, Michael Hutchinson, M Buddles, Rachel Howley, Michael Farrell, Killian O'Rourke, Douglass M. Turnbull
Publikováno v:
Muscle & Nerve. 40:648-651
We report the clinical, histochemical, and molecular genetic findings in a patient with progressive mitochondrial cytopathy due to the m.8313G>A point mutation in the mitochondrial tRNA(Lys) (MTTK) gene. The clinical features in this case are severe,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::698bef089b56a7032a0181771198fa6e
https://doi.org/10.1002/mus.21342
https://doi.org/10.1002/mus.21342
Autor:
Qualtieri, Antonio1 (AUTHOR) antonio.qualtieri@irib.cnr.it, De Benedittis, Selene1 (AUTHOR), Cerantonio, Annamaria1 (AUTHOR), Citrigno, Luigi1 (AUTHOR), Di Palma, Gemma1 (AUTHOR), Gallo, Olivier1 (AUTHOR), Cavalcanti, Francesca1 (AUTHOR), Spadafora, Patrizia1 (AUTHOR) patrizia.spadafora@irib.cnr.it
Publikováno v:
International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 19, p10356. 15p.
Autor:
Thomas Klopstock, Birgit Czermin, A Seller, Robert W. Taylor, Emma L. Blakely, Bryan Lecky, Grainne S. Gorman, Mark E Roberts, Benedikt Schoser, M Buddles, J Evans, S.E. Omer, Joanna Stewart, Douglass M. Turnbull, Cornelia Kornblum, Carl Fratter, Rita Horvath, Kate Craig, Joanna Poulton, Patrick F. Chinnery, S Rahman, Michael G. Hanna, C Smith
Background: Mutations in the Twinkle (PEO1) gene are a recognized cause of autosomal dominant progressive external ophthalmoplegia (adPEO), resulting in the accumulation of multiple mitochondrial DNA (mtDNA) deletions and cytochrome c oxidase (COX)-d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d09dd0f2a7771432ec1506a2cb64a8c3
https://europepmc.org/articles/PMC2875130/
https://europepmc.org/articles/PMC2875130/
Autor:
Ann Curtis, Judith A. Goodship, M Buddles, Helen J. Blair, M Seager, Alan Coulthard, Shaun Tennant, Carmen C. Garcia
Publikováno v:
Journal of medical genetics. 41(3)
A four generation family is described in which some men of normal intelligence have epilepsy and others have various combinations of epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. As the phenotype in this family is distinct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b91819e0016e6a81bbce34089214a3b4
https://pubmed.ncbi.nlm.nih.gov/14985377
https://pubmed.ncbi.nlm.nih.gov/14985377
Autor:
A Wills, John P. Bourke, M Poppe, Mark Busby, Daniel Birchall, L.V.B. Anderson, M Buddles, Kate Bushby, Francesco Muntoni, LM Cree, M. Eagle, Martin Brockington
Publikováno v:
Scopus-Elsevier
Background: Mutations in the fukutin-related protein gene FKRP cause limb-girdle muscular dystrophy (LGMD2I) as well as a form of congenital muscular dystrophy (MDC1C). Objective: To define the phenotype in LGMD2I. Methods: The authors assessed 16 pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2126cb84f8886c30e836c39473b28418
https://pubmed.ncbi.nlm.nih.gov/12707421
https://pubmed.ncbi.nlm.nih.gov/12707421
Autor:
M Buddles, Judith A. Goodship, Tim T. Goodship, Michael Venning, Rosemary L. Donne, Bernard S. Kaplan, Anna Richards, Edwin E. Kirk, Christian Tielemans
Publikováno v:
American journal of human genetics. 68(2)
Several recent studies have established an association between abnormalities of complement factor H (FH) and the development of hemolytic uremic syndrome (HUS). To identify the relative importance of mutations in FH as a cause of HUS, we have underta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f21f4283f0310dc2aca564bcc054b11
https://pubmed.ncbi.nlm.nih.gov/11170896
https://pubmed.ncbi.nlm.nih.gov/11170896
Autor:
Bryan Lecky, Thomas Klopstock, Joanna Poulton, Douglass M. Turnbull, Carl Fratter, Rita Horvath, C Smith, S.E. Omer, Patrick F. Chinnery, Benedikt Schoser, G. Gorman, Michael G. Hanna, Joanna Stewart, Cornelia Kornblum, A Seller, Robert W. Taylor, M Buddles, J Evans, Mark Roberts, Shamima Rahman
Publikováno v:
Neuromuscular Disorders. 19:562
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2aac3ffc1451c5002f7f5ac541b29af0
https://doi.org/10.1016/j.nmd.2009.06.062
https://doi.org/10.1016/j.nmd.2009.06.062
Autor:
Conte, Federica1,2 (AUTHOR), Sam, Juda-El1 (AUTHOR), Lefeber, Dirk J.1,3 (AUTHOR) dirk.lefeber@radboudumc.nl, Passier, Robert2,4 (AUTHOR) dirk.lefeber@radboudumc.nl
Publikováno v:
International Journal of Molecular Sciences. May2023, Vol. 24 Issue 10, p8632. 60p.
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Akademický článek
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