Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Noman Kadhom"'
Autor:
Dominique Chretien, Jean-Yves Pauchard, Jean-Paul Bonnefont, Johanna Corcos, Agnès Rötig, Noman Kadhom, Sophie Lebon, Julie Steffann, Valérie Serre, Limor Minai, Arnold Munnich
Publikováno v:
Molecular Genetics and Metabolism. 92:104-108
Complex I deficiency is a frequent cause of mitochondrial disease as it accounts for one third of these disorders. By genotyping several putative disease loci using microsatellite markers we were able to describe a new NDUFS7 mutation in a consanguin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f7cbfdd96a7a0045b4b47a5bfc5388f
https://doi.org/10.1016/j.ymgme.2007.05.010
https://doi.org/10.1016/j.ymgme.2007.05.010
Autor:
Luigi Palmieri, Ziva Ben-Neriah, Arnold Munnich, Florence Molinari, Férechté Encha-Razavi, Pierre Rustin, Tania Attié-Bitach, Marlène Rio, Annick Raas-Rothschild, Michel Vekemans, Giuseppe Fiermonte, Noman Kadhom, Laurence Colleaux, Ferdinando Palmieri
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2005, 76, pp.334-339
HAL
American journal of human genetics 76 (2005): 334–339. doi:10.1086/427564
info:cnr-pdr/source/autori:Molinari F, Raas-Rothschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, Palmieri F, Ben-Neriah Z, Kadhom N, Vekemans M, Attie-Bitach T, Munnich A, Rustin P, Colleaux L./titolo:Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy/doi:10.1086%2F427564/rivista:American journal of human genetics/anno:2005/pagina_da:334/pagina_a:339/intervallo_pagine:334–339/volume:76
American Journal of Human Genetics, Elsevier (Cell Press), 2005, 76, pp.334-339
HAL
American journal of human genetics 76 (2005): 334–339. doi:10.1086/427564
info:cnr-pdr/source/autori:Molinari F, Raas-Rothschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, Palmieri F, Ben-Neriah Z, Kadhom N, Vekemans M, Attie-Bitach T, Munnich A, Rustin P, Colleaux L./titolo:Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy/doi:10.1086%2F427564/rivista:American journal of human genetics/anno:2005/pagina_da:334/pagina_a:339/intervallo_pagine:334–339/volume:76
International audience; Severe neonatal epilepsies with suppression-burst pattern are epileptic syndromes with either neonatal onset or onset during the first months of life. These disorders are characterized by a typical electroencephalogram pattern
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c714ea1960e89d52f96355cd6dfe709
https://doi.org/10.1086/427564
https://doi.org/10.1086/427564
Autor:
Karine Chantrel-Groussard, Serge Romana, Arnold Munnich, Agnès Rötig, Jean Weissenbach, Dominique Chretien, Gabor Gyapay, Sophie Lebon, Damien Sanlaville, Pascale de Lonlay, Claude Mugnier, Paule Bénit, Safa Saker, Pierre Rustin, Noman Kadhom
Publikováno v:
ResearcherID
The mapping and identification of respiratory chain deficiency genes is particularly tedious owing to the large number of genes encoding catalytic subunits and involved in respiratory chain (RC) assembly and maintenance. We have developed a functiona
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00f7bd090e314c770cb2f836277344ba
https://doi.org/10.1093/hmg/11.26.3273
https://doi.org/10.1093/hmg/11.26.3273
Autor:
Noman Kadhom, Jan-Willem Taanman, Pierre Rustin, Marina Gorbatyuk, Antoni Barrientos, Patrick Niaudet, Anne Lombès, Isabelle Valnot, Hélène Ogier de Baulny, Alexander Tzagoloff, Agnès Rötig, Pascale de Lonlay, Dominique Chretien, Arnold Munnich, Emmanuel Benayoun
Publikováno v:
Nature Genetics. 29:57-60
Complex III (CIII; ubiquinol cytochrome c reductase of the mitochondrial respiratory chain) catalyzes electron transfer from succinate and nicotinamide adenine dinucleotide-linked dehydrogenases to cytochrome c. CIII is made up of 11 subunits, of whi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bc1e36e5008c3294f1d1681b62afec7
https://doi.org/10.1038/ng706
https://doi.org/10.1038/ng706
Autor:
Carina Prip-Buus, Laure Thuillier, Nourredine Abadi, Chitra Prasad, Louise Dilling, Juliet Klasing, France Demaugre, Cheryl R. Greenberg, James C. Haworth, Véronique Droin, Noman Kadhom, Stéphanie Gobin, Pierre Kamoun, Jean Girard, Jean-Paul Bonnefont
Publikováno v:
Molecular Genetics and Metabolism. 73:46-54
Hepatic carnitine palmitoyltransferase 1 (CPT1A) deficiency is a rare disorder of mitochondrial fatty acid oxidation inherited as an autosomal recessive trait. Symptomatology comprises attacks of hypoketotic hypoglycemia with risk of sudden death or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e520e78d64ebc75c1148a68621e4510b
https://doi.org/10.1006/mgme.2001.3176
https://doi.org/10.1006/mgme.2001.3176
Autor:
Christelle Golzio, Tomas Lindahl, Hiroko Kawagoe-Takaki, Laurence Colleaux, Giles S.H. Yeo, Stephen O'Rahilly, I. Sadaf Farooqi, Noman Kadhom, Orit Reish, Philippe Froguel, Heather C. Etchevers, Vladimir Saudek, Sarah Boissel, David Meyre, Florence Molinari, Karine Proulx, Barbara Sedgwick, Arnold Munnich
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2009, 85 (1), pp.106-111. ⟨10.1016/j.ajhg.2009.06.002⟩
American Journal of Human Genetics, 2009, 85 (1), pp.106-111. ⟨10.1016/j.ajhg.2009.06.002⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2009, 85 (1), pp.106-111. ⟨10.1016/j.ajhg.2009.06.002⟩
American Journal of Human Genetics, 2009, 85 (1), pp.106-111. ⟨10.1016/j.ajhg.2009.06.002⟩
International audience; FTO is a nuclear protein belonging to the AlkB-related non-haem iron-and 2-oxoglutarate-dependent dioxygenase family. Although polymorphisms within the first intron of the FTO gene have been associated with obesity, the physio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49585ee98fbd98ee0c7ae31f3e7760c0
https://hal.archives-ouvertes.fr/hal-02044723/document
https://hal.archives-ouvertes.fr/hal-02044723/document
Autor:
Marie-Hélène, Odièvre, Dominique, Chretien, Arnold, Munnich, Brian H, Robinson, Renée, Dumoulin, Sahben, Masmoudi, Noman, Kadhom, Agnès, Rötig, Pierre, Rustin, Jean-Paul, Bonnefont
Publikováno v:
Human mutation. 25(3)
The alpha-ketoglutarate dehydrogenase complex (KGDC) catalyses the decarboxylation of alpha-ketoglutarate into succinyl-coenzyme A in the Krebs cycle. This enzymatic complex is made up of three subunits (E1, encoded by PDHA1; E2, encoded by DLST; and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0115e587ea0a58bc911cf4b1087dd9fe
https://pubmed.ncbi.nlm.nih.gov/15712224
https://pubmed.ncbi.nlm.nih.gov/15712224
Autor:
Laure Thuillier, Hidayeth Rostane, Veronique Droin, France Demaugre, Michèle Brivet, Noman Kadhom, Carina Prip-Buus, Stéphanie Gobin, Jean-Marie Saudubray, Jean-Paul Bonnefont
Publikováno v:
Human mutation. 21(5)
Carnitine palmitoyltransferase 2 (CPT2) deficiency, the most common inherited disease of the mitochondrial long-chain fatty acid (LCFA) oxidation, may result in distinct clinical phenotypes, namely a mild adult muscular form and a severe hepatocardio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c2490162a268461ae90ab64c652e80f
https://pubmed.ncbi.nlm.nih.gov/12673791
https://pubmed.ncbi.nlm.nih.gov/12673791
Autor:
Paule Bénit, Yves Dumez, Sophie Lebon, Pierre Rustin, Noman Kadhom, Alice Goldenberg, Julie Steffann, Agnès Rötig, Marc Dommergues, Pascale de Lonlay, Dominique Chretien, Arnold Munnich
Publikováno v:
Human genetics. 112(5-6)
Complex I deficiency, the most common cause of mitochondrial disorders, accounts for a variety of clinical symptoms and its genetic heterogeneity makes identification of the disease genes particularly tedious. Indeed, most of the 43 complex I subunit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa061d7e4372000f4ac0df03494e1fd5
https://pubmed.ncbi.nlm.nih.gov/12616398
https://pubmed.ncbi.nlm.nih.gov/12616398
Autor:
Patrick Edery, Dominique Chretien, Vanna Geromel, Pierre Rustin, Noman Kadhom, Arnold Munnich, Eeva-Liisa Appelkvist, Agnès Rötig, Lars Ernster, Gustav Dallner, Marc Lebideau
Publikováno v:
Lancet (London, England). 356(9227)
Summary Background The respiratory-chain deficiencies are a broad group of largely untreatable diseases. Among them, coenzyme Q 10 (ubiquinone) deficiency constitutes a subclass that deserves early and accurate diagnosis. Methods We assessed respirat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76b78f3ebf290c5f7534b2eb5c061d67
https://pubmed.ncbi.nlm.nih.gov/10972372
https://pubmed.ncbi.nlm.nih.gov/10972372