Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Laurence, Bindoff"'
Autor:
Lindsay B. Murphy, Olivia Schreiber‐Katz, Karen Rafferty, Agata Robertson, Ana Topf, Tracey A. Willis, Marcel Heidemann, Simone Thiele, Laurence Bindoff, Jean‐Pierre Laurent, Hanns Lochmüller, Katherine Mathews, Claudia Mitchell, John Herbert Stevenson, John Vissing, Lacey Woods, Maggie C. Walter, Volker Straub
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 757-766 (2020)
Abstract Objective The Global FKRP Registry is a database for individuals with conditions caused by mutations in the Fukutin‐Related Protein (FKRP) gene: limb girdle muscular dystrophy R9 (LGMDR9, formerly LGMD2I) and congenital muscular dystrophie
Externí odkaz:
https://doaj.org/article/f1310f1750cd4e48a7c8c56d083436e5
Autor:
Iselin Marie Wedding, Jeanette Koht, Gia Tuong Tran, Doriana Misceo, Kaja Kristine Selmer, Asbjørn Holmgren, Eirik Frengen, Laurence Bindoff, Chantal M E Tallaksen, Charalampos Tzoulis
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e86340 (2014)
Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding paraplegin, a protein located at the inner mitochondrial membrane and involved in the processing of other mitochondrial proteins. The mechanism whereby p
Externí odkaz:
https://doaj.org/article/5f84c1ba73a843048d73e2691082dd82
Autor:
Michelangelo Mancuso, Robert McFarland, Thomas Klopstock, Michio Hirano, Rafael Artuch, Enrico Bertini, Laurence Bindoff, Valerio Carelli, Grainne Gorman, Rita Horvath, Petra Kaufmann, Yasutoshi Koga, Saskia Koene, Costanza Lamperti, Julio Montoya, Francisco Javier Pérez-Mínguez Caneda, Vincent Procaccio, Holger Prokisch, Shamima Rahman, Piero Santantonio, Markus Schülke, Serenella Servidei, Dikoma C. Shungu, Gabriele Siciliano, Jan Smeitink, Tanja Taivassalo, John L.P. Thompson, Doug Turnbull, Elja Van der Veer, Philip E. Yeske, Massimo Zeviani
Publikováno v:
Neuromuscular Disorders. 27:1126-1137
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0e179218785369217b6539d83269abd1
https://doi.org/10.1016/j.nmd.2017.08.006
https://doi.org/10.1016/j.nmd.2017.08.006
Autor:
Laurence Bindoff, Nathaniel Bindoff
Publikováno v:
European Heart Journal. 24:221-224
See doi:10.1016/S1095-668X(02)00387-1for thearticle to which this editorial refers. Mitochondria are the major site of energy production in the cell. It is not surprising, therefore, that an energy dependant tissue such as heart is affected by mitoch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b31b27155d50d87b0e2ee1e0678a76b
https://doi.org/10.1016/s0195-668x(02)00694-2
https://doi.org/10.1016/s0195-668x(02)00694-2
Autor:
Laurence, Bindoff, Nils Erik, Gilhus
Publikováno v:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 123(18)
Our understanding of the genetic basis of muscle disease has grown dramatically over the last few years. Gene tests are now available for the diagnosis of several conditions and molecular research is providing greater understanding of pathogenesis.Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7d109fbcc212a769706f80320fb62e5c
https://pubmed.ncbi.nlm.nih.gov/14714051
https://pubmed.ncbi.nlm.nih.gov/14714051
Autor:
Gunnar, Mellgren, Pål Ivar, Holm, Ernst Asbjørn, Lien, Inger H, Bleskestad, Sylvi, Aanderud, Laurence, Bindoff
Publikováno v:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 122(10)
Thyrotoxic periodic paralysis (TPP) is a complication of hyperthyroidism.We describe two patients with TPP.A 26-year-old man from Vietnam had weight loss, tachycardia, palpitations and heat intolerance for five months. Episodic leg and arm weakness d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b5bbde3f152e4e7d8994289eb4617319
https://pubmed.ncbi.nlm.nih.gov/12082695
https://pubmed.ncbi.nlm.nih.gov/12082695
Publikováno v:
Europe PubMed Central
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::43860a519789b418c7d3a17105e81dce
https://pubmed.ncbi.nlm.nih.gov/7745569
https://pubmed.ncbi.nlm.nih.gov/7745569
Autor:
Jackson S, Rs, Kler, Bartlett K, Pourfarzam M, Aynsley-Green A, Laurence Bindoff, Dm, Turnbull
Publikováno v:
Europe PubMed Central
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::02391e3fedc539e2bf2919badc16501a
https://pubmed.ncbi.nlm.nih.gov/1438378
https://pubmed.ncbi.nlm.nih.gov/1438378
Publikováno v:
Europe PubMed Central
Defects of the pyruvate dehydrogenase complex and of mitochondrial fatty acid oxidation are important causes of disease. Defects of pyruvate dehydrogenase may present in early childhood with severe CNS changes or, as lactic acidosis or later with ata
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::14d5e58278f81d93497a58fa0bb983e8
https://pubmed.ncbi.nlm.nih.gov/1962058
https://pubmed.ncbi.nlm.nih.gov/1962058