Search - Inserm - Institut national de la santé et de la recherche médicale Access content directly

Filter your results

41 Results
authFullName_s : Arnold Munnich

TAB2, TRAF6 and TAK1 are involved in NF-κB activation induced by the TNF-receptor, Edar and its adaptator Edaradd

Aurore Morlon , Arnold Munnich , Asma Smahi
Human Molecular Genetics, 2005, 14 (23), pp.3751-3757. ⟨10.1093/hmg/ddi405⟩
Journal articles hal-04138562v1

Disabled early recruitment of antioxidant defenses in Friedreich's ataxia

Karine Chantrel-Groussard , Vanna Geromel , Hélène Puccio , Michel Koenig , Arnold Munnich , et al.
Human Molecular Genetics, 2001, 10 (19), pp.2061-2067. ⟨10.1093/hmg/10.19.2061⟩
Journal articles hal-04093208v1
Image document

Asphyxiating Thoracic Dysplasia: clinical and molecular review of 42 families

Valérie Cormier-Daire , Céline Huber , Geneviève Baujat , R Caumes , Honorine Kayirangwa , et al.
First International Cilia in Development and Disease Scientific Conference, pp.O4
Conference papers inserm-00752961v1
Image document

Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies

Marie‐céline François-Heude , Elise Lebigot , Emmanuel Roze , Marie Thérèse Abi Warde , Claude Cances , et al.
European Journal of Neurology, 2022, 29 (11), pp.3229-3242. ⟨10.1111/ene.15515⟩
Journal articles hal-03806206v1
Image document

Correction of Fatty Acid Oxidation in Carnitine Palmitoyl Transferase 2-Deficient Cultured Skin Fibroblasts by Bezafibrate

Fatima Djouadi , Jean-Paul Bonnefont , Laure Thuillier , Véronique Droin , Noman Khadom , et al.
Pediatric Research, 2003, 54 (4), pp.446-451. ⟨10.1203/01.PDR.0000083001.91588.BB⟩
Journal articles inserm-02896299v1
Image document

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

Johanne Dubail , Céline Huber , Sandrine Chantepie , Stephan Sonntag , Beyhan Tuysuz , et al.
Nature Communications, 2018, 9 (1), pp.3087. ⟨10.1038/s41467-018-05191-8⟩
Journal articles hal-01914333v1
Image document

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations

Jorge Diaz , Xavier Gérard , Michel-Boris Emerit , Julie Areias , David Geny , et al.
Brain - A Journal of Neurology , 2020, 143 (10), pp.2911-2928. ⟨10.1093/brain/awaa235⟩
Journal articles hal-03002603v1
Image document

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

Marlène Rio , Valérie Malan , Sarah Boissel , Annick Toutain , Ghislaine Royer , et al.
European Journal of Human Genetics, 2010, 18 (3), pp.285-290. ⟨10.1038/ejhg.2009.159⟩
Journal articles hal-02044698v1
Image document

Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour.

Oscar Hernández-Hernández , Céline Guiraud-Dogan , Géraldine Sicot , Aline Huguet , Sabrina Luilier , et al.
Brain - A Journal of Neurology , 2013, 136 (Pt 3), pp.957-70. ⟨10.1093/brain/aws367⟩
Journal articles inserm-00795195v1
Image document

Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

Isabelle Perrault , Sophie Saunier , Sylvain Hanein , Emile Filhol , Albane A. Bizet , et al.
First International Cilia in Development and Disease Scientific Conference, pp.O28
Conference papers inserm-00752958v1
Image document

Activation of Peroxisome Proliferator-Activated Receptor Pathway Stimulates the Mitochondrial Respiratory Chain and Can Correct Deficiencies in Patients' Cells Lacking Its Components

Jean Bastin , Flore Aubey , Agnès Rötig , Arnold Munnich , Fatima Djouadi
Journal of Clinical Endocrinology and Metabolism, 2008, 93 (4), pp.1433-1441. ⟨10.1210/jc.2007-1701⟩
Journal articles inserm-02896255v1
Image document

Characterization of fatty acid oxidation in human muscle mitochondria and myoblasts

Fatima Djouadi , Jean-Paul Bonnefont , Arnold Munnich , Jean Bastin
Molecular Genetics and Metabolism, 2003, 78 (2), pp.112-118. ⟨10.1016/S1096-7192(03)00017-9⟩
Journal articles inserm-02896304v1
Image document

Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency

Giulia Barcia , Sonia Khirani , Alessandro Amaddeo , Zahra Assouline , Alessandra Pennisi , et al.
Neuromuscular Disorders, 2020, 30, pp.593 - 598. ⟨10.1016/j.nmd.2020.06.002⟩
Journal articles hal-03492110v1
Image document

Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis.

Niklas Darin , Norman Kadhom , Jean-Jacques Brière , Dominique Chretien , Cécile M. Bébéar , et al.
BMC Biochemistry, 2003, 4, pp.15. ⟨10.1186/1471-2091-4-15⟩
Journal articles inserm-00114072v1
Image document

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation.

Christelle Golzio , Emmanuelle Havis , Philippe Daubas , Gregory Nuel , Candice Babarit , et al.
PLoS ONE, 2012, 7 (1), pp.e30677. ⟨10.1371/journal.pone.0030677⟩
Journal articles hal-00686361v1
Image document

Searching for secondary findings: considering actionability and preserving the right not to know

Bertrand Isidor , Sophie Julia , Pascale Saugier-Veber , Paul-Loup Weil-Dubuc , Stephane Bezieau , et al.
European Journal of Human Genetics, 2019, 27 (10), pp.1481-1484. ⟨10.1038/s41431-019-0438-x⟩
Journal articles hal-02904506v1
Image document

New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling

Laurent Schibler , Linda Gibbs , Catherine Benoist-Lasselin , Charles Decraene , Jelena Martinovic , et al.
PLoS ONE, 2009, 4, online (10), Non paginé. ⟨10.1371/journal.pone.0007633⟩
Journal articles hal-01193364v1
Image document

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

Hisham Megahed , Michaël Nicouleau , Giulia Barcia , Daniel Medina-Cano , Karine Siquier-Pernet , et al.
Orphanet Journal of Rare Diseases, 2015, 11 (1), pp.57. ⟨10.1186/s13023-016-0436-9⟩
Journal articles inserm-01322562v1
Image document

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

Ekin Ucuncu , Karthyayani Rajamani , Miranda Wilson , Daniel Medina-Cano , Nami Altin , et al.
Nature Communications, 2020, 11 (1), pp.6087. ⟨10.1038/s41467-020-19919-y⟩
Journal articles hal-03151207v1

The place of social sexing' in medicine and science

Pierre F. Ray , Arnold Munnich , Israël Nisand , René Frydman , Michel Vekemans , et al.
Human Reproduction, 2002, 17 (1), pp.248-249. ⟨10.1093/humrep/17.1.248⟩
Journal articles hal-04149524v1

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

Soumaya Mougou-Zerelli , Sophie Thomas , Emmanuelle Szenker , Sophie Audollent , Nadia Elkhartoufi , et al.
Human Mutation, 2009, 30 (11), pp.1574-82. ⟨10.1002/humu.21116⟩
Journal articles inserm-00420359v1
Image document

Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.

Yannick Allanore , Mohamad Saad , Philippe Dieudé , Jérôme Avouac , Jorg H. W. Distler , et al.
PLoS Genetics, 2011, 7 (7), pp.e1002091. ⟨10.1371/journal.pgen.1002091⟩
Journal articles inserm-00714204v1
Image document

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

Laurence Faivre , J. R. Gorlin , M. K. Wirtz , Maurice Godfrey , N. Dagoneau , et al.
Journal of Medical Genetics, 2003, 40 (1), pp.34-6
Journal articles inserm-00143439v1
Image document

New insights into genotype-phenotype correlation for GLI3 mutations

Florence Démurger , Amale Ichkou , Soumaya Mougou-Zerelli , Martine Le Merrer , Géraldine Goudefroye , et al.
European Journal of Human Genetics, 2015, 23 (1), pp.92-102. ⟨10.1038/ejhg.2014.62⟩
Journal articles hal-01064583v1
Image document

Pregnancy in MNGIE: a clinical and metabolic honeymoon

Pauline Pappalardo , Jean‐françois Benoist , Bridget Bax , Clarisse Carra‐dallière , Cecilia Marelli , et al.
Annals of Clinical and Translational Neurology, In press, ⟨10.1002/acn3.51202⟩
Journal articles hal-02995577v1
Image document


Slimane Allali , Carine Le Goff , Isabelle Pressac-Diebold , Gwendolyne Pfenning , Clã©mentine Mahaut , et al.
Journal of Medical Genetics, 2011, 48 (6), pp.417. ⟨10.1136/jmg.2010.087544⟩
Journal articles hal-00614843v1
Image document

Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations

Charles-Joris Roux , Giulia Barcia , Manuel Schiff , Marie Sissler , Raphaël Levy , et al.
Molecular Genetics and Metabolism, 2021, 133 (2), pp.222-229. ⟨10.1016/j.ymgme.2021.04.004⟩
Journal articles hal-03365760v1
Image document

Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation

David Genevieve , Delphine Héron , Vincent El Ghouzzi , Catherine Prost-Squarcioni , Martine Le Merrer , et al.
European Journal of Human Genetics, 2005, 13 (5), pp.541-546. ⟨10.1038/sj.ejhg.5201339⟩
Journal articles hal-02342690v1
Image document

The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia

Cybel Mehawej , Agnès Delahodde , Laurence Legeai-Mallet , Valérie Delague , Nabil Kaci , et al.
PLoS Genetics, 2014, 10 (5), pp.e1004311. ⟨10.1371/journal.pgen.1004311⟩
Journal articles hal-01680942v1
Image document

Epithelial barrier dysfunction in desmoglein-1 deficiency

Laura Polivka , Smaïl Hadj-Rabia , Elodie Bal , Stéphanie Leclerc-Mercier , Marine Madrange , et al.
Journal of Allergy and Clinical Immunology, 2018, 142 (2), pp.702-706.e7. ⟨10.1016/j.jaci.2018.04.007⟩
Journal articles hal-02052255v1