Low dose clozapine controls adult-onset psychosis associated with the neurogenic ataxia-retinitis pigmentosa (NARP) mutation

by Caroline Demily, Charlyne Duwime, Alice Poisson, Nathalie Boddaert, Arnold Munnich
Published 2017-03-01

Authors' reply — Clozapine for mitochondrial psychosis

by Caroline Demily, Charlyne Duwime, Alice Poisson, Nathalie Boddaert, Arnold Munnich
Published 2017-03-01

Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells

by Xavier Gérard, Isabelle Perrault, Arnold Munnich, Josseline Kaplan, Jean-Michel Rozet
Published 2015-01-01

Transcriptionally Repressive Chromatin Remodelling and CpG Methylation in the Presence of Expanded CTG-Repeats at the DM1 Locus

by Judith Rixt Brouwer, Aline Huguet, Annie Nicole, Arnold Munnich, Geneviève Gourdon
Published 2013-01-01

Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia

by Habib Bouazzi, Seema Thakur, Carlos Trujillo, Mohammad Khalid Alwasiyah, Arnold Munnich
Published 2016-01-01

CTG trinucleotide repeat "big jumps": large expansions, small mice.

by Mário Gomes-Pereira, Laurent Foiry, Annie Nicole, Aline Huguet, Claudine Junien, Arnold Munnich, Geneviève Gourdon
Published 2007-04-01

MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice.

by Stéphanie Tomé, Ian Holt, Winfried Edelmann, Glenn E Morris, Arnold Munnich, Christopher E Pearson, Geneviève Gourdon
Published 2009-05-01

The Computerized Adaptable Test Battery (BMT-i) for Rapid Assessment of Children's Academic Skills and Cognitive Functions: A Validation Study

by Catherine Billard, Eric Thiébaut, Sahawanatou Gassama, Sahawanatou Gassama, Monique Touzin, Monique Touzin, Jean-Christophe Thalabard, Anne Mirassou, Arnold Munnich
Published 2021-07-01

Nuclear outsourcing of RNA interference components to human mitochondria.

by Simonetta Bandiera, Silvia Rüberg, Muriel Girard, Nicolas Cagnard, Sylvain Hanein, Dominique Chrétien, Arnold Munnich, Stanislas Lyonnet, Alexandra Henrion-Caude
Published 2011-01-01

Expanding the clinical spectrum of MTTF mutations

by Giulia Barcia, Zahra Assouline, Alessandra Pennisi, Julie Steffann, Nathalie Boddaert, Cyril Gitiaux, Agnès Rötig, Jean-Paul Bonnefont, Arnold Munnich
Published 2019-12-01

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation.

by Christelle Golzio, Emmanuelle Havis, Philippe Daubas, Gregory Nuel, Candice Babarit, Arnold Munnich, Michel Vekemans, Stéphane Zaffran, Stanislas Lyonnet, Heather C Etchevers
Published 2012-01-01

Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia.

by Simonetta Bandiera, François Cartault, Anne-Sophie Jannot, Elie Hatem, Muriel Girard, Laila Rifai, Clemence Loiseau, Arnold Munnich, Stanislas Lyonnet, Alexandra Henrion-Caude
Published 2013-01-01

External Validation of BMT-i Computerized Test Battery for Diagnosis of Learning Disabilities

by Catherine Billard, Camille Jung, Arnold Munnich, Sahawanatou Gassama, Sahawanatou Gassama, Monique Touzin, Monique Touzin, Anne Mirassou, Thiébaut-Noël Willig, Thiébaut-Noël Willig
Published 2021-10-01

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

by Laurent Schibler, Linda Gibbs, Catherine Benoist-Lasselin, Charles Decraene, Jelena Martinovic, Philippe Loget, Anne-Lise Delezoide, Marie Gonzales, Arnold Munnich, Jean-Philippe Jais, Laurence Legeai-Mallet
Published 2009-01-01

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

by Xavier Gerard, Isabelle Perrault, Sylvain Hanein, Eduardo Silva, Karine Bigot, Sabine Defoort-Delhemmes, Marlèene Rio, Arnold Munnich, Daniel Scherman, Josseline Kaplan, Antoine Kichler, Jean-Michel Rozet
Published 2012-01-01

Data from Artificial Models of Mitochondrial DNA Disorders Are Not Always Applicable to Humans

by Julie Steffann, Nadine Gigarel, David C. Samuels, Sophie Monnot, Roxana Borghese, Laetitia Hesters, Nelly Frydman, Philippe Burlet, René Frydman, Alexandra Benachi, Agnes Rotig, Arnold Munnich, Jean-Paul Bonnefont
Published 2014-05-01

rs5888 variant of SCARB1 gene is a possible susceptibility factor for age-related macular degeneration.

by Jennyfer Zerbib, Johanna M Seddon, Florence Richard, Robyn Reynolds, Nicolas Leveziel, Pascale Benlian, Patrick Borel, Josué Feingold, Arnold Munnich, Gisèle Soubrane, Josseline Kaplan, Jean-Michel Rozet, Eric H Souied
Published 2009-10-01

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.

by Cybel Mehawej, Agnès Delahodde, Laurence Legeai-Mallet, Valérie Delague, Nabil Kaci, Jean-Pierre Desvignes, Zoha Kibar, José-Mario Capo-Chichi, Eliane Chouery, Arnold Munnich, Valérie Cormier-Daire, André Mégarbané
Published 2014-05-01

Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis

by Fredoen Valianpour, Voula Mitsakos, Dimitri Schlemmer, Jeffrey A. Towbin, Juliet M. Taylor, Paul G. Ekert, David R. Thorburn, Arnold Munnich, Ronald J.A. Wanders, Peter G. Barth, Frédéric M. Vaz
Published 2005-06-01

MRI findings in 77 children with non-syndromic autistic disorder.

by Nathalie Boddaert, Mônica Zilbovicius, Anne Philipe, Laurence Robel, Marie Bourgeois, Catherine Barthélemy, David Seidenwurm, Isabelle Meresse, Laurence Laurier, Isabelle Desguerre, Nadia Bahi-Buisson, Francis Brunelle, Arnold Munnich, Yves Samson, Marie-Christine Mouren, Nadia Chabane
Published 2009-01-01