檢索結果 - Abdelhamid Slama

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  1. 1
    Role of Sex Hormones on Brain Mitochondrial Function, with Special Reference to Aging and Neurodegenerative Diseases

    Role of Sex Hormones on Brain Mitochondrial Function, with Special Reference to Aging and Neurodegenerative Diseases 由 Pauline Gaignard, Philippe Lière, Patrice Thérond, Michaël Schumacher, Abdelhamid Slama, Rachida Guennoun

    出版 2017
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  2. 2
    Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.

    Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts. 由 S.V. Pande, M. Brivet, Abdelhamid Slama, France Demaugre, C Aufrant, Jean‐Marie Saudubray

    出版 1993
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  3. 3
    Safe and Effective Use of the Ketogenic Diet in Children with Epilepsy and Mitochondrial Respiratory Chain Complex Defects

    Safe and Effective Use of the Ketogenic Diet in Children with Epilepsy and Mitochondrial Respiratory Chain Complex Defects 由 Hoon‐Chul Kang, Young‐Mock Lee, Heung Dong Kim, Joon Soo Lee, Abdelhamid Slama

    出版 2006
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  4. 4
    Effect of Sex Differences on Brain Mitochondrial Function and Its Suppression by Ovariectomy and in Aged Mice

    Effect of Sex Differences on Brain Mitochondrial Function and Its Suppression by Ovariectomy and in Aged Mice 由 Pauline Gaignard, Stéphane Savouroux, Philippe Lière, Antoine Pianos, Patrice Thérond, Michaël Schumacher, Abdelhamid Slama, Rachida Guennoun

    出版 2015
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  5. 5
    Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3

    Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3 由 Lise Mathieu, Alexandra Lopes Costa, Carole Le Bachelier, Abdelhamid Slama, Anne-Sophie Lèbre, Robert W. Taylor, Jean Bastin, Fatima Djouadi

    出版 2016
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  6. 6
    Mitotane alters mitochondrial respiratory chain activity by inducing cytochrome c oxidase defect in human adrenocortical cells

    Mitotane alters mitochondrial respiratory chain activity by inducing cytochrome c oxidase defect in human adrenocortical cells 由 S. Hescot, Abdelhamid Slama, Anne Lombès, Angélo Paci, Hervé Remy, Sophie Leboulleux, Rita Chadarévian, Séverine Trabado, Larbi Amazit, Jacques Young, Éric Baudin, Marc Lombès

    出版 2013
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  7. 7
    Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration

    Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosi... 由 Marie Müller, Marine Guillaud-Bataille, Julia Salleron, Catherine Genestie, Sophie Deveaux, Abdelhamid Slama, Brigitte Bressac–de Paillerets, Richard J. Kahnoski, Patrick R. Benusiglio, Sophie Ferlicot

    出版 2018
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  8. 8
    MFN2, a new gene responsible for mitochondrial DNA depletion

    MFN2, a new gene responsible for mitochondrial DNA depletion 由 Florence Renaldo, Patrizia Amati‐Bonneau, Abdelhamid Slama, C. Romaña, V. Forin, Diane Doummar, Christine Barnérias, Joseph Bursztyn, M. Mayer, N. Khouri, Thierry Billette de Villemeur, Lydie Bürglen, Pascal Reynier, A. Gélot, Diana Rodriguez

    出版 2012
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  9. 9
    Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients

    Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients 由 Élise Lebigot, Pauline Gaignard, Imen Dorboz, Abdelhamid Slama, M. Rio, Pascale de Lonlay, Bénédicte Héron, Frédérique Sabourdy, Odile Boespflug‐Tanguy, Ariel R. Cardoso, Florence Habarou, Chris Ottolenghi, Patrice Thérond, Cécile Bouton, Marie‐Pierre Golinelli‐Cohen, Audrey Boutron

    出版 2017
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  10. 10
    Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

    Early-onset Behr syndrome due to compound heterozygous mutations in OPA1 由 Dominique Bonneau, Estelle Colin, Florine Oca, Marc Ferré, Arnaud Chevrollier, Naïg Guéguen, Valérie Desquiret‐Dumas, Sylvie Nguyen, Magalie Barth, Xavier Zanlonghi, Marlène Rio, Isabelle Desguerre, Christine Barnérias, Marta Momtchilova, Diana Rodriguez, Abdelhamid Slama, Guy Lenaers, Vincent Procaccio, Patrizia Amati‐Bonneau, Pascal Reynier

    出版 2014
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  11. 11
    Natural disease course and genotype‐phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

    Natural disease course and genotype‐phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases 由 Saskia Koene, Richard J. Rodenburg, Marjo S. van der Knaap, Michèl A.A.P. Willemsen, Wolfgang Sperl, Vincent Laugel, Elsebet Østergaard, Mark A. Tarnopolsky, Miguel A. Martı́n, Victoria Nesbitt, Janice M. Fletcher, Simon Edvardson, Vincent Procaccio, Abdelhamid Slama, Lambert P. W. J. den van Heuvel, J.A.M. Smeitink

    出版 2012
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  12. 12
    QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

    QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease 由 Virgínia Guarani, Claude Jardel, Dominique Chrétien, Anne Lombès, Paule Bénit, C. Labasse, Emmanuelle Lacène, Agnès Bourillon, Apolline Imbard, Jean‐François Benoist, Imen Dorboz, Martine Gilleron, Eric S. Goetzman, Pauline Gaignard, Abdelhamid Slama, Monique Elmaleh, Norma B. Romero, Pierre Rustin, Hélène Ogier de Baulny, João A. Paulo, J. Wade Harper, Manuel Schiff

    出版 2016
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  13. 13
    Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia

    Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia 由 Pauline Gaignard, Minal Menezes, Manuel Schiff, Aurélien Bayot, Malgorzata Rak, Hélène Ogier de Baulny, Chen-Hsien Su, Martine Gilleron, Anne Lombès, Heni Abida, Alexander Tzagoloff, Lisa G. Riley, Sandra T. Cooper, Kym Mina, Padma Sivadorai, Mark R. Davis, Richard J.N. Allcock, Nina Kresoje, Nigel G. Laing, David R. Thorburn, Abdelhamid Slama, John Christodoulou, Pierre Rustin

    出版 2013
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  14. 14
    A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

    A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency 由 Anne-Sophie Lèbre, Marlène Rio, L. Faivre d'Arcier, Déwy Vernerey, P. Landrieu, Abdelhamid Slama, Claude Jardel, P. Laforet, Diana Rodriguez, Nathalie Dorison, Damien Galanaud, B. Chabrol, Véronique Paquis‐Flucklinger, D. Grévent, Simon Edvardson, Julie Steffann, Benoît Funalot, Nathalie Villeneuve, Vassili Valayannopoulos, Pascale de Lonlay, I. Desguerre, Françis Brunelle, Jean‐Paul Bonnefont, Agnès Rötig, Arnold Münnich, Nathalie Boddaert

    出版 2010
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  15. 15
    Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

    Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders 由 Sylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre, Claude Jardel, Annabelle Chaussenot, Claire Hoarau, Hassani Maoulida, Nathanaël Charrier, Xiaowu Gai, Hongbo Xie, Marc Ferré, Konstantina Fragaki, G. Hardy, Bénédicte Mousson de Camaret, Sandrine Marlin, Claire Marie Dhaenens, Abdelhamid Slama, Christophe Rocher, Jean‐Paul Bonnefont, Agnès Rötig, Nadia Aoutil, Martine Gilleron, Valérie Desquiret‐Dumas, Pascal Reynier, Jennifer Ceresuela, Laurence Jonard, Aurore Devos, Caroline Espil‐Taris, Delphine Martinez, Pauline Gaignard, Kim‐Hanh Le Quan Sang, Patrizia Amati‐Bonneau, Marni J. Falk, Catherine Florentz, B. Chabrol, Isabelle Durand‐Zaleski, Véronique Paquis‐Flucklinger

    出版 2013
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  16. 16
    Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

    Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders 由 Robert Kopajtich, Dmitrii Smirnov, Sarah L. Stenton, Stefan Loipfinger, Chen Meng, Ines F. Scheller, Peter Freisinger, Robert Baski, Riccardo Berutti, Jürgen Behr, Martina Bucher, Felix Distelmaier, Elisabeth Graf, Mirjana Gušić, Maja Hempel, Lea Kulterer, Johannes A. Mayr, Thomas Meitinger, Christian Mertes, Metodi D. Metodiev, Agnieszka Nadel, Alessia Nasca, Akira Ohtake, Yasushi Okazaki, Rikke Katrine Jentoft Olsen, Dorota Piekutowska‐Abramczuk, Agnès Rötig, René Santer, Detlev Schindler, Abdelhamid Slama, Christian Staufner, Tim M. Strom, Patrick Verloo, Jürgen‐Christoph von Kleist-Retzow, Saskia B. Wortmann, Vicente A. Yépez, Costanza Lamperti, Daniele Ghezzi, Kei Murayama, Christina Ludwig, Julien Gagneur, Holger Prokisch

    出版 2021
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  17. 17
    Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

    Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma 由 Betty Gardie, Audrey Remenieras, Darouna Kattygnarath, Johny Bombled, Sandrine-Hélène Lefèvre, Victoria Perrier-Trudova, Pierre Rustin, M. Barrois, Abdelhamid Slama, M.-F. Avril, D. Bessis, Olivier Caron, F. Caux, Patrick Collignon, I. Coupier, Catherine Cremin, Hélène Dollfus, Catherine Dugast, B. Escudier, Laurence Faivre, Michael Field, Brigitte Gilbert‐Dussardier, Nicolas Janin, Y. Leport, Dominique Leroux, Dan Lipsker, F. Malthieu, B. McGilliwray, Christine Maugard, A. Méjean, Isabelle Mortemousque, Ghislaine Plessis, Bruce Poppe, C. Pruvost‐Balland, S. Rooker, J. Roume, Nadem Soufir, M. Steinraths, Min Tan, Christine Théodore, L. Thomas, P. Vabres, E. Van Glabeke, Jean‐Baptiste Méric, Virginie Verkarre, Gilbert Lenoir, V. Joulin, Scott DeVeaux, Véronica Cusin, Jean Feunteun, Bin Tean Teh, Brigitte Bressac–de Paillerets, Richard J. Kahnoski

    出版 2011
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