The CLDN5 gene at the blood-brain barrier in health and disease

por Hashimoto, Yosuke, Greene, Chris, Munnich, Arnold, Campbell, Matthew
Publicado 2023

Regional siderosis: a new challenge for iron chelation therapy

por Cabantchik, Zvi Ioav, Munnich, Arnold, Youdim, Moussa B., Devos, David
Publicado 2013

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

por Demily, Caroline, Duwime, Charlyne, Poisson, Alice, Boddaert, Nathalie, Munnich, Arnold
Publicado 2016

Authors' reply — Clozapine for mitochondrial psychosis

por Demily, Caroline, Duwime, Charlyne, Poisson, Alice, Boddaert, Nathalie, Munnich, Arnold
Publicado 2017

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

por Brouwer, Judith Rixt, Huguet, Aline, Nicole, Annie, Munnich, Arnold, Gourdon, Geneviève
Publicado 2013

Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]

por Bouazzi, Habib, Lesca, Gaetan, Trujillo, Carlos, Alwasiyah, Mohammad Khalid, Munnich, Arnold
Publicado 2015

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

por Bouazzi, Habib, Thakur, Seema, Trujillo, Carlos, Alwasiyah, Mohammad Khalid, Munnich, Arnold
Publicado 2016

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

por Gérard, Xavier, Perrault, Isabelle, Munnich, Arnold, Kaplan, Josseline, Rozet, Jean-Michel
Publicado 2015

CTG Trinucleotide Repeat “Big Jumps”: Large Expansions, Small Mice

por Gomes-Pereira, Mário, Foiry, Laurent, Nicole, Annie, Huguet, Aline, Junien, Claudine, Munnich, Arnold, Gourdon, Geneviève
Publicado 2007

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

por Billard, Catherine, Thiébaut, Eric, Gassama, Sahawanatou, Touzin, Monique, Thalabard, Jean-Christophe, Mirassou, Anne, Munnich, Arnold
Publicado 2021

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

por Billard, Catherine, Jung, Camille, Munnich, Arnold, Gassama, Sahawanatou, Touzin, Monique, Mirassou, Anne, Willig, Thiébaut-Noël
Publicado 2021

MSH2 ATPase Domain Mutation Affects CTG•CAG Repeat Instability in Transgenic Mice

por Tomé, Stéphanie, Holt, Ian, Edelmann, Winfried, Morris, Glenn E., Munnich, Arnold, Pearson, Christopher E., Gourdon, Geneviève
Publicado 2009

Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations

por González-Serrano, Ligia Elena, Karim, Loukmane, Pierre, Florian, Schwenzer, Hagen, Rötig, Agnès, Munnich, Arnold, Sissler, Marie
Publicado 2018

Reply: De novo mutations in CLDN5: alternating hemiplegia of childhood or not?

por Desguerre, Isabelle, Aubart, Melodie, Hashimoto, Yosuke, Poirier, Karine, Kaminska, Anna, Alison, Marianne, Boddaert, Nathalie, Munnich, Arnold, Campbell, Matthew
Publicado 2023

Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis

por Darin, Niklas, Kadhom, Norman, Brière, Jean-Jacques, Chretien, Dominique, Bébéar, Cécile M, Rötig, Agnès, Munnich, Arnold, Rustin, Pierre
Publicado 2003

Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency()

por Serre, Valérie, Rozanska, Agata, Beinat, Marine, Chretien, Dominique, Boddaert, Nathalie, Munnich, Arnold, Rötig, Agnès, Chrzanowska-Lightowlers, Zofia M.
Publicado 2013

Nuclear Outsourcing of RNA Interference Components to Human Mitochondria

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

Expanding the clinical spectrum of MTTF mutations

por Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Steffann, Julie, Boddaert, Nathalie, Gitiaux, Cyril, Rötig, Agnès, Bonnefont, Jean-Paul, Munnich, Arnold
Publicado 2019

Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF

por Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Steffann, Julie, Boddaert, Nathalie, Gitiaux, Cyril, Rötig, Agnès, Bonnefont, Jean-Paul, Munnich, Arnold
Publicado 2019

Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy

por Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Gitiaux, Cyril, Schiff, Manuel, Boddaert, Nathalie, Munnich, Arnold, Bonnefont, Jean-Paul, Rötig, Agnès
Publicado 2019