Publications by authors named "Abdelhamid Slama"

52Publications

Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia.

Authors:
Pierre-Hadrien Becker Zeynep Demir Yael Mozer Glassberg Caroline Sevin Dalila Habes Apolline Imbard Charlotte Mussini Michal Rozenfeld Bar Lev Anne Davit-Spraul Jean-François Benoist Patrice Thérond Abdelhamid Slama Emmanuel Jacquemin Emmanuel Gonzales Pauline Gaignard

Mol Genet Metab 2021 Jan 28;132(1):38-43. Epub 2020 Nov 28.

Department of Biochemistry, Reference Center for Mitochondrial Disease, FILNEMUS, Bicêtre University Hospital, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France; Lip(Sys)2, University of Paris-Saclay, Chatenay-Malabry, France. Electronic address:

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January 2021

Mitochondrial dysfunction caused by novel ATAD3A mutations.

Authors:
Nathalie Dorison Pauline Gaignard Aurélien Bayot Antoinette Gelot Pierre Hadrien Becker Salma Fourati Elise Lebigot Perrine Charles Timothy Wai Patrice Therond Abdelhamid Slama

Mol Genet Metab 2020 Sep - Oct;131(1-2):107-113. Epub 2020 Sep 9.

Biochemistry Department, Hôpital Bicêtre, APHP Université Paris-Saclay, Le Kremlin Bicêtre F-94275, France. Electronic address:

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September 2020

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.

Authors:
Giulia Barcia Marlène Rio Zahra Assouline Coralie Zangarelli Naig Gueguen Valerie D Dumas Pascale Marcorelles Manuel Schiff Abdelhamid Slama Magalie Barth Marie Hully Pascale de Lonlay Arnold Munnich Isabelle Desguerre Jean-Paul Bonnefont Julie Steffann Vincent Procaccio Nathalie Boddaert Agnès Rötig Metodi D Metodiev Benedetta Ruzzenente

Hum Mutat 2020 02 11;41(2):397-402. Epub 2019 Nov 11.

Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.

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February 2020

Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.

Authors:
Bianca E Russell Kaitlin G Whaley Kevin E Bove Anatalia Labilloy Rachel C Lombardo Robert J Hopkin Nancy D Leslie Carlos Prada Zahra Assouline Giulia Barcia Juliette Bouchereau Maryline Chomton Dominique Debray Imen Dorboz Philippe Durand Pauline Gaignard Dalila Habes Claude Jardel François Labarthe Jonathan Lévy Anne Lombès Claire Mehler-Jacob Judith Melki Laura Menvielle Arnold Munnich Charlotte Mussini Samia Pichard Marlène Rio Agnès Rötig Samira Sissaoui Abdelhamid Slama Alexander G Miethke Manuel Schiff

Hepatology 2019 09 16;70(3):1066-1070. Epub 2019 May 16.

Reference Center for Inherited Metabolic Diseases, Robert Debré Hospital, University Paris Diderot-Sorbonne Paris Cité, APHP, Paris, France.

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September 2019

Mitochondrial myopathy associated with anti-programmed cell death 1 therapy.

Authors:
Tony Ibrahim Clovis Adam Emilie Routier Abdelhamid Slama Caroline Robert

Eur J Cancer 2019 Mar 14;110:71-73. Epub 2019 Feb 14.

Dermatology Unit, Oncology Department, Gustave Roussy cancer campus, Villejuif, France; Paris-Sud University, Kremlin Bicêtre, France. Electronic address:

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March 2019

Steroids in Stroke with Special Reference to Progesterone.

Authors:
Rachida Guennoun Xiaoyan Zhu Magalie Fréchou Pauline Gaignard Abdelhamid Slama Philippe Liere Michael Schumacher

Cell Mol Neurobiol 2019 May 9;39(4):551-568. Epub 2018 Oct 9.

U1195 Inserm and University Paris-Sud and University Paris-Saclay, 80 rue du Général Leclerc, 94276, Le Kremlin-Bicêtre, France.

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May 2019

Intranasal administration of progesterone: A potential efficient route of delivery for cerebroprotection after acute brain injuries.

Authors:
Rachida Guennoun Magalie Fréchou Pauline Gaignard Philippe Liere Abdelhamid Slama Michael Schumacher Christian Denier Claudia Mattern

Neuropharmacology 2019 02 6;145(Pt B):283-291. Epub 2018 Jun 6.

M et P Pharma AG, Schynweg 7, P.O. Box 138, 6376, Emmetten, Switzerland; Nova Southeastern University, Fort Lauderdale, FL, 33314, USA.

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February 2019

Long-term liver disease in methylmalonic and propionic acidemias.

Authors:
Apolline Imbard Nuria Garcia Segarra Marine Tardieu Pierre Broué Juliette Bouchereau Samia Pichard Hélène Ogier de Baulny Abdelhamid Slama Charlotte Mussini Guy Touati Marie Danjoux Pauline Gaignard Hannes Vogel François Labarthe Manuel Schiff Jean-François Benoist

Mol Genet Metab 2018 04 7;123(4):433-440. Epub 2018 Feb 7.

Biochemistry Laboratory, APHP, Robert Debré University Hospital, Paris, France; Paris Sud University, Chatenay Malabry, France. Electronic address:

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April 2018

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.

Authors:
Marie Muller Marine Guillaud-Bataille Julia Salleron Catherine Genestie Sophie Deveaux Abdelhamid Slama Brigitte Bressac de Paillerets Stéphane Richard Patrick R Benusiglio Sophie Ferlicot

Mod Pathol 2018 06 6;31(6):974-983. Epub 2018 Feb 6.

Réseau National pour Cancers Rares de l'Adulte PREDIR AP-HP labellisé par l'Institut National du Cancer (INCa), Hôpital de Bicêtre, 94275, Le Kremlin Bicêtre, France.

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June 2018

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

Authors:
Pauline Gaignard Philippe Liere Patrice Thérond Michael Schumacher Abdelhamid Slama Rachida Guennoun

Front Aging Neurosci 2017 7;9:406. Epub 2017 Dec 7.

U1195 Inserm and University Paris-Sud and University Paris-Saclay, Le Kremlin-Bicêtre, France.

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December 2017

Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.

Authors:
Alice Kuster Jean-Baptiste Arnoux Magalie Barth Delphine Lamireau Nada Houcinat Cyril Goizet Bérénice Doray Stéphanie Gobin Manuel Schiff Aline Cano Daniel Amsallem Christine Barnerias Boris Chaumette Marion Plaze Abdelhamid Slama Christine Ioos Isabelle Desguerre Anne-Sophie Lebre Pascale de Lonlay Laurence Christa

J Inherit Metab Dis 2018 01 18;41(1):129-139. Epub 2017 Sep 18.

Metabolomic and proteomic Biochemical department, Necker Enfants-Malades Hospital, Paris Descartes University, Paris, France.

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January 2018

Mutation in the AGK gene in two siblings with unusual Sengers syndrome.

Authors:
Sanae Allali Imen Dorboz Simon Samaan Abdelhamid Slama Charlène Rambaud Odile Boespflug-Tanguy Catherine Sarret

Metab Brain Dis 2017 12 3;32(6):2149-2154. Epub 2017 Sep 3.

Service de Génétique Médicale, Hôpital Estaing, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.

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December 2017

Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health.

Authors:
Amandine Duchesne Anne Vaiman Johan Castille Christian Beauvallet Pauline Gaignard Sandrine Floriot Sabrina Rodriguez Marthe Vilotte Laurent Boulanger Bruno Passet Olivier Albaric François Guillaume Abdelhak Boukadiri Laurence Richard Maud Bertaud Edouard Timsit Raphaël Guatteo Florence Jaffrézic Pierre Calvel Louise Helary Rachid Mahla Diane Esquerré Christine Péchoux Sophie Liuu Jean-Michel Vallat Didier Boichard Abdelhamid Slama Jean-Luc Vilotte

PLoS Genet 2017 04 4;13(4):e1006597. Epub 2017 Apr 4.

GABI, INRA, AgroParisTech, Université Paris-Saclay, Jouy-en-Josas, France.

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April 2017

UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia.

Authors:
Pauline Gaignard Didier Eyer Elise Lebigot Christophe Oliveira Patrice Therond Audrey Boutron Abdelhamid Slama

J Hum Genet 2017 Jul 9;62(7):729-731. Epub 2017 Mar 9.

APHP-CHU de Bicêtre, Biochemistry Department, 78, rue du Général Leclerc, Le Kremlin Bicêtre, France.

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July 2017

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

Authors:
Virginia Guarani Claude Jardel Dominique Chrétien Anne Lombès Paule Bénit Clémence Labasse Emmanuelle Lacène Agnès Bourillon Apolline Imbard Jean-François Benoist Imen Dorboz Mylène Gilleron Eric S Goetzman Pauline Gaignard Abdelhamid Slama Monique Elmaleh-Bergès Norma B Romero Pierre Rustin Hélène Ogier de Baulny Joao A Paulo J Wade Harper Manuel Schiff

Elife 2016 09 13;5. Epub 2016 Sep 13.

UMR1141, PROTECT, INSERM, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.

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September 2016

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

Authors:
Lise Mathieu Alexandra Lopes Costa Carole Le Bachelier Abdelhamid Slama Anne-Sophie Lebre Robert W Taylor Jean Bastin Fatima Djouadi

Free Radic Biol Med 2016 07 25;96:190-8. Epub 2016 Apr 25.

INSERM UMRS 1124, Université Paris Descartes, 75006 Paris, France. Electronic address:

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July 2016

Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.

Authors:
Juliette Bouchereau Sandrine Vuillaumier Barrot Thierry Dupré Stuart E H Moore Ruxandra Cardas Yline Capri Pauline Gaignard Abdelhamid Slama Catherine Delanoë Hélène Ogier de Baulny Nathalie Seta Manuel Schiff Laurent Servais

JIMD Rep 2016 27;29:109-113. Epub 2016 Feb 27.

Institut de Myologie, Hôpital Pitié-Salpêtrière, Paris, France.

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February 2016

Progesterone reduces brain mitochondrial dysfunction after transient focal ischemia in male and female mice.

Authors:
Pauline Gaignard Magalie Fréchou Michael Schumacher Patrice Thérond Claudia Mattern Abdelhamid Slama Rachida Guennoun

J Cereb Blood Flow Metab 2016 Mar 14;36(3):562-8. Epub 2015 Oct 14.

U1195 Inserm and University Paris-Sud, Le Kremlin-Bicêtre, France

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March 2016

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

Authors:
Pauline Gaignard Stéphane Savouroux Philippe Liere Antoine Pianos Patrice Thérond Michael Schumacher Abdelhamid Slama Rachida Guennoun

Endocrinology 2015 Aug 3;156(8):2893-904. Epub 2015 Jun 3.

U1195 Inserm and University Paris-Sud (P.G., P.L., A.P., M.S., R.G.), 94276 Le Kremlin-Bicêtre Cedex, France; and Biochemistry Laboratory (P.G., S.S., P.T., A.S.), Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Sud, 94275 Le Kremlin-Bicêtre Cedex, France.

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August 2015

New spastic paraplegia phenotype associated to mutation of NFU1.

Authors:
Davide Tonduti Imen Dorboz Apolline Imbard Abdelhamid Slama Audrey Boutron Samia Pichard Monique Elmaleh Louis Vallée Jean François Benoist Heléne Ogier Odile Boespflug-Tanguy

Orphanet J Rare Dis 2015 Feb 8;10:13. Epub 2015 Feb 8.

Paris Diderot University - Sorbonne Paris Cité; Inserm U1141, DHU PROTECT, Robert Debré Hospital, Paris, France.

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February 2015

The lack of antitumor effects of o,p'DDA excludes its role as an active metabolite of mitotane for adrenocortical carcinoma treatment.

Authors:
Ségolène Hescot Angelo Paci Atmane Seck Abdelhamid Slama Say Viengchareun Séverine Trabado Sylvie Brailly-Tabard Abir Al Ghuzlan Jacques Young Eric Baudin Marc Lombès

Horm Cancer 2014 Oct 16;5(5):312-23. Epub 2014 Jul 16.

Inserm U693, Fac Med Paris Sud, 63 rue Gabriel Péri, 94276, Le Kremlin-Bicêtre Cedex, France.

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October 2014

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

Authors:
Dominique Bonneau Estelle Colin Florine Oca Marc Ferré Arnaud Chevrollier Naïg Guéguen Valérie Desquiret-Dumas Sylvie N'Guyen Magalie Barth Xavier Zanlonghi Marlène Rio Isabelle Desguerre Christine Barnerias Marta Momtchilova Diana Rodriguez Abdelhamid Slama Guy Lenaers Vincent Procaccio Patrizia Amati-Bonneau Pascal Reynier

Brain 2014 Oct 10;137(Pt 10):e301. Epub 2014 Jul 10.

1 Unité Mixte de Recherche CNRS 6214 - INSERM 1083, Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France.

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October 2014

Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity.

Authors:
Matthew J Fraidakis Claude Jardel Stéphane Allouche Isabelle Nelson Karine Auré Abdelhamid Slama Isabelle Lemière Jean Philippe Thenint Jean Baptiste Hamon Fabien Zagnoli Delphine Heron Frédéric Sedel Anne Lombès

Mitochondrion 2014 Mar 29;15:34-9. Epub 2014 Mar 29.

AP-HP, Hôpital de La Salpêtrière, Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, Paris F-75651, France; INSERM, UMRS 1016, Institut Cochin, Paris F-75014, France; CNRS, UMR 8104, Institut Cochin, Paris F-75014, France; Université René Descartes-Paris 5, Paris F-75014, France. Electronic address:

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March 2014

Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency.

Authors:
Mathilde Nizon Audrey Boutron Nathalie Boddaert Abdelhamid Slama Hélène Delpech Claude Sardet Anaïs Brassier Florence Habarou Agnès Delahodde Isabelle Correia Chris Ottolenghi Pascale de Lonlay

Mitochondrion 2014 Mar 22;15:59-64. Epub 2014 Jan 22.

Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, APHP, Paris, France. Electronic address:

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March 2014

Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis.

Authors:
Anne Davit-Spraul Marine Beinat Dominique Debray Agnes Rötig Abdelhamid Slama Emmanuel Jacquemin

JIMD Rep 2014 9;14:17-21. Epub 2013 Nov 9.

Biochemistry Unit, Hôpital Bicêtre, Assistance Publique - Hôpitaux de Paris, Université Paris Sud 11, 78, rue du Général Leclerc, Le Kremlin-Bicêtre, 94275 cedex, France,

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October 2014

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

Authors:
Pauline Gaignard Minal Menezes Manuel Schiff Aurélien Bayot Malgorzata Rak Hélène Ogier de Baulny Chen-Hsien Su Mylene Gilleron Anne Lombes Heni Abida Alexander Tzagoloff Lisa 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

Am J Hum Genet 2013 Aug 1;93(2):384-9. Epub 2013 Aug 1.

Laboratoire de Biochimie, Hôpital de Bicêtre, Assistance Publique - Hôpitaux de Paris, 78 Rue du Général Leclerc, 94275 Le Kremlin Bicêtre Cedex, France.

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August 2013

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders.

Authors:
Sylvie Bannwarth Vincent Procaccio Anne Sophie Lebre Claude Jardel Annabelle Chaussenot Claire Hoarau Hassani Maoulida Nathanaël Charrier Xiaowu Gai Hongbo M Xie Marc Ferre Konstantina Fragaki Gaëlle Hardy Bénédicte Mousson de Camaret Sandrine Marlin Claire Marie Dhaenens Abdelhamid Slama Christophe Rocher Jean Paul Bonnefont Agnès Rötig Nadia Aoutil Mylène 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 Brigitte Chabrol Isabelle Durand-Zaleski Véronique Paquis-Flucklinger

J Med Genet 2013 Oct 11;50(10):704-14. Epub 2013 Jul 11.

IRCAN, CNRS UMR 7284/Inserm U1081/UNS, Faculté de Médecine, Nice, France.

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October 2013

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

Authors:
Ségolène Hescot Abdelhamid Slama Anne Lombès Angelo Paci Hervé Remy Sophie Leboulleux Rita Chadarevian Séverine Trabado Larbi Amazit Jacques Young Eric Baudin Marc Lombès

Endocr Relat Cancer 2013 Jun 21;20(3):371-81. Epub 2013 May 21.

INSERM U693, Fac Med Paris Sud, Rue Gabriel Péri, Le Kremlin-Bicêtre F-94276, France.

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June 2013

Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.

Authors:
Pauline Gaignard Emmanuel Gonzales Oanez Ackermann Philippe Labrune Isabelle Correia Patrice Therond Emmanuel Jacquemin Abdelhamid Slama

JIMD Rep 2013 27;11:117-23. Epub 2013 Apr 27.

Laboratoire de biochimie, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, 78 rue du Général Leclerc, Le Kremlin-Bicêtre Cedex, 94275, France.

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August 2013

MFN2, a new gene responsible for mitochondrial DNA depletion.

Authors:
Florence Renaldo Patrizia Amati-Bonneau Abdelhamid Slama Claudia Romana Veronique Forin Diane Doummar Christine Barnerias Joseph Bursztyn Michèle Mayer Nejib Khouri Thierry Billette de Villemeur Lydie Burglen Pascal Reynier Antoinette Bernabe Gelot Diana Rodriguez

Brain 2012 Aug 3;135(Pt 8):e223, 1-4; author reply e224, 1-3. Epub 2012 May 3.

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August 2012

Mitochondrial complex I deficiency of nuclear origin I. Structural genes.

Authors:
Hélène Pagniez-Mammeri Sandrine Loublier Alain Legrand Paule Bénit Pierre Rustin Abdelhamid Slama

Mol Genet Metab 2012 Feb 18;105(2):163-72. Epub 2011 Nov 18.

Laboratoire de Biochimie, APHP Hôpital de Bicêtre, 78 rue du Général Leclerc, 94275 Le Kremlin Bicêtre cedex, France.

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February 2012

Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes.

Authors:
Hélène Pagniez-Mammeri Malgorzata Rak Alain Legrand Paule Bénit Pierre Rustin Abdelhamid Slama

Mol Genet Metab 2012 Feb 20;105(2):173-9. Epub 2011 Oct 20.

Laboratoire de Biochimie, APHP Hôpital de Bicêtre, 78 rue du Général Leclerc, 94275 Le Kremlin Bicêtre cedex, France.

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February 2012

Clinical and biochemical heterogeneity associated with fumarase deficiency.

Authors:
Chris Ottolenghi Laurence Hubert Yannick Allanore Anais Brassier Cécilia Altuzarra Caroline Mellot-Draznieks Soumeya Bekri Alice Goldenberg Severine Veyrieres Nathalie Boddaert Valérie Barbier Vassili Valayannopoulos Abdelhamid Slama Dominique Chrétien Daniel Ricquier Stéphane Marret Thierry Frebourg Daniel Rabier Arnold Munnich Yves de Keyzer Hervé Toulhoat Pascale de Lonlay

Hum Mutat 2011 Sep 12;32(9):1046-52. Epub 2011 Jul 12.

Service de Biochimie Métabolique, Hôpital Necker-Enfants Malades, Université Paris Descartes et Assistance Publique Hôpitaux de Paris, Paris, France.

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September 2011

Increased susceptibility to liver fibrosis with age is correlated with an altered inflammatory response.

Authors:
Meriem Mahrouf-Yorgov Alexandra Collin de l'Hortet Claudine Cosson Abdelhamid Slama Elsa Abdoun Jacques-Emmanuel Guidotti Bernard Fromenty Claudia Mitchell Hélène Gilgenkrantz

Rejuvenation Res 2011 Aug 6;14(4):353-63. Epub 2011 May 6.

Institut National de la Santé et de la Recherche Médicale U.1016, Institut Cochin, 24 rue du Faubourg Saint-Jacques, Paris, France.

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August 2011

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

Authors:
Betty Gardie Audrey Remenieras Darouna Kattygnarath Johny Bombled Sandrine Lefèvre Victoria Perrier-Trudova Pierre Rustin Michel Barrois Abdelhamid Slama Marie-Françoise Avril Didier Bessis Olivier Caron Frédéric Caux Patrick Collignon Isabelle Coupier Carol Cremin Hélène Dollfus Catherine Dugast Bernard Escudier Laurence Faivre Michel Field Brigitte Gilbert-Dussardier Nicolas Janin Yves Leport Dominique Leroux Dan Lipsker Félicia Malthieu Barbara McGilliwray Christine Maugard Arnaud Méjean Isabelle Mortemousque Ghislaine Plessis Bruce Poppe Christelle Pruvost-Balland Serena Rooker Joelle Roume Nadem Soufir Michelle Steinraths Min-Han Tan Christine Théodore Luc Thomas Pierre Vabres Emmanuel Van Glabeke Jean-Baptiste Meric Virginie Verkarre Gilbert Lenoir Virginie Joulin Sophie Deveaux Veronica Cusin Jean Feunteun Bin Tean Teh Brigitte Bressac-de Paillerets Stéphane Richard

J Med Genet 2011 Apr 12;48(4):226-34. Epub 2011 Mar 12.

Génétique Oncologique EPHE, INSERM U753, Institut de cancérologie Gustave Roussy Villejuif, Faculté de Médecine Paris-Sud, 63 avenue du Général Leclerc, 94276 Le Kremlin-Bicêtre, France.

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April 2011

Carboplatin: a new cause of severe type B lactic acidosis secondary to mitochondrial DNA damage.

Authors:
François Gilles Brivet Abdelhamid Slama Dominique Prat Frédéric Marc Jacobs

Am J Emerg Med 2011 Sep 8;29(7):842.e5-7. Epub 2010 Oct 8.

Medical Intensive Care Department, Antoine Béclère Hospital, France EA 4046, Paris XI University, France.

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September 2011

Leukoencephalopathy with vanishing white matter caused by compound heterozygous mutations in mitochondrial complex I NDUFS1 subunit.

Authors:
Hélène Pagniez-Mammeri Pierre Landrieu Alain Legrand Abdelhamid Slama

Mol Genet Metab 2010 Oct-Nov;101(2-3):297-8. Epub 2010 Jul 17.

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January 2011

Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction.

Authors:
Aurélien Amiot Maya Tchikviladzé Francisca Joly Abdelhamid Slama Dominique Cazals Hatem Claude Jardel Bernard Messing Anne Lombès

Gastroenterology 2009 Jul 1;137(1):101-9. Epub 2009 Apr 1.

AP-HP, Hôpital Beaujon, Pôle des maladies de l'appareil digestif, Service de Gastroentérologie et d'assistance nutritive, Clichy, France.

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July 2009

Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects.

Authors:
Hélène Pagniez-Mammeri Anne Lombes Michèle Brivet Hélène Ogier-de Baulny Pierre Landrieu Alain Legrand Abdelhamid Slama

Mol Genet Metab 2009 Apr 22;96(4):196-200. Epub 2009 Jan 22.

Laboratoire de Biochimie, APHP Hôpital de Bicêtre, 78, rue du Général Leclerc, 94275 Le Kremlin-Bicêtre Cedex, France.

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April 2009

Decylubiquinol impedes mitochondrial respiratory chain complex I activity.

Authors:
Paule Bénit Abdelhamid Slama Pierre Rustin

Mol Cell Biochem 2008 Jul 15;314(1-2):45-50. Epub 2008 Apr 15.

Inserm, U676, Hôpital Robert Debré, Bât Ecran, Paris, France.

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July 2008

Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions.

Authors:
Young Mock Lee Hoon Chul Kang Joon Soo Lee Se Hoon Kim Eung Yeop Kim Seung Koo Lee Abdelhamid Slama Heung Dong Kim

Epilepsia 2008 Apr 5;49(4):685-90. Epub 2008 Feb 5.

Department of Pediatrics, Severance Children's Hospital, The Institute for Handicapped Children, Yonsei University College of Medicine, Seoul, Korea.

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April 2008

Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.

Authors:
Emmanuelle Sarzi Steffi Goffart Valérie Serre Dominique Chrétien Abdelhamid Slama Arnold Munnich Johannes N Spelbrink Agnès Rötig

Ann Neurol 2007 Dec;62(6):579-87

Institut National de la Sante et de la Recherche Médicale U781 and Service de Génétique, Hôpital Necker-Enfants Malades, Paris, France.

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December 2007

Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.

Authors:
Neil Ashley Susan Adams Abdelhamid Slama Massimo Zeviani Anu Suomalainen Antonio L Andreu Robert K Naviaux Joanna Poulton

Hum Mol Genet 2007 Jun 3;16(12):1400-11. Epub 2007 May 3.

Mitochondrial Genetics Group, Nuffield Department of Obstetrics and Gynaecology, Level 3, Women's Centre,The John Radcliffe Hospital, Oxford OX3 9DU, UK.

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June 2007

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood.

Authors:
Emmanuelle Sarzi Alice Bourdon Dominique Chrétien Mohamed Zarhrate Johanna Corcos Abdelhamid Slama Valérie Cormier-Daire Pascale de Lonlay Arnold Munnich Agnès Rötig

J Pediatr 2007 May;150(5):531-4, 534.e1-6

INSERM U781, Hôpital Necker-Enfants Malades, Paris, France.

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May 2007

A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome.

Authors:
Sophie Lebon Diana Rodriguez Delphine Bridoux Amal Zerrad Agnès Rötig Arnold Munnich Alain Legrand Abdelhamid Slama

Mol Genet Metab 2007 Apr 1;90(4):379-82. Epub 2007 Feb 1.

INSERM U781, Hôpital Necker-Enfants Malades, Paris, France.

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April 2007

Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects.

Authors:
Hoon-Chul Kang Young-Mock Lee Heung Dong Kim Joon Soo Lee Abdelhamid Slama

Epilepsia 2007 Jan;48(1):82-8

Department of Pediatrics and Epilepsy Center, Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.

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January 2007

Respiratory chain defects may present only with hypoglycemia.

Authors:
Fanny Mochel Abdelhamid Slama Guy Touati Isabelle Desguerre Irina Giurgea Daniel Rabier Michele Brivet Pierre Rustin Jean-Marie Saudubray Pascale DeLonlay

J Clin Endocrinol Metab 2005 Jun 22;90(6):3780-5. Epub 2005 Mar 22.

Service des Maladies Métaboliques, Hôpital Necker Enfants-Malades, 149 rue de Sèvres, Paris 75015, France.

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June 2005

Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation.

Authors:
Gérard Said Catherine Lacroix Violaine Planté-Bordeneuve Bernard Messing Abdelhamid Slama Pascal Crenn Annie Nivelon-Chevallier Laurent Bedenne Pierre Soichot E Manceau Daniel Rigaud Anne Guiochon-Mantel Claude Matuchansky

J Neurol 2005 Jun 7;252(6):655-62. Epub 2005 Mar 7.

Service de Neurologie, Centre Hospitalier Universitaire de Bicêtre, 94275 Le Kremlin Bicêtre, France.

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June 2005

Revisiting pitfalls, problems and tentative solutions for assaying mitochondrial respiratory chain complex III in human samples.

Authors:
Dominique Chretien Abdelhamid Slama Jean-Jacques Brière Arnold Munnich Agnès Rötig Pierre Rustin

Curr Med Chem 2004 Jan;11(2):233-9

Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Hôpital des Enfants-Malades, 149, rue de Sèvres, 75743 Paris Cedex 15, France.

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January 2004

The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers.

Authors:
Sandrine Haut Thierry Billette de Villemeur Michèle Brivet Anne Guiochon-Mantel Audrey Boutron Pierre Rustin Alain Legrand Abdelhamid Slama

Eur J Hum Genet 2004 Mar;12(3):220-4

Laboratoire de Biochimie, AP-HP Hôpital de Bicêtre, Paris, France.

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March 2004

A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis.

Authors:
Sandrine Haut Michèle Brivet Guy Touati Pierre Rustin Sophie Lebon Angela Garcia-Cazorla Jean Marie Saudubray Audrey Boutron Alain Legrand Abdelhamid Slama

Hum Genet 2003 Jul 23;113(2):118-22. Epub 2003 Apr 23.

Laboratoire de Biochimie 1, AP-HP Hôpital de Bicêtre, 78 Rue du Général Leclerc, Cédex, 94275 Le Kremlin Bicetre, France.

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July 2003

A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.

Authors:
Runu Dey Manuele Mine Isabelle Desguerre Abdelhamid Slama Loic Van Den Berghe Michèle Brivet Bernard Aral Cécile Marsac

Ann Neurol 2003 Feb;53(2):273-7

Laboratoire CERTO, CNRS UPR 1524, Faculté de Médecine Necker, Paris, France.

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February 2003