检索结果 - Munnich, Arnold 

Regional siderosis: a new challenge for iron chelation therapy 由 Cabantchik, Zvi Ioav, Munnich, Arnold, Youdim, Moussa B., Devos, David

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Low dose clozapine controls adult-onset psychosis associated with the neurogenic ataxia-retinitis pigmentosa (NARP) mutation 由 Demily, Caroline, Duwime, Charlyne, Poisson, Alice, Boddaert, Nathalie, Munnich, Arnold

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Authors' reply — Clozapine for mitochondrial psychosis 由 Demily, Caroline, Duwime, Charlyne, Poisson, Alice, Boddaert, Nathalie, Munnich, Arnold

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Stabilization of RNA during laser capture microdissection by performing experiments under argon atmosphere or using ethanol as a solvent in staining solutions 由 Clément-Ziza, Mathieu, Munnich, Arnold, Lyonnet, Stanislas, Jaubert, Francis, Besmond, Claude

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Transcriptionally Repressive Chromatin Remodelling and CpG Methylation in the Presence of Expanded CTG-Repeats at the DM1 Locus 由 Brouwer, Judith Rixt, Huguet, Aline, Nicole, Annie, Munnich, Arnold, Gourdon, Geneviève

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Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)] 由 Bouazzi, Habib, Lesca, Gaetan, Trujillo, Carlos, Alwasiyah, Mohammad Khalid, Munnich, Arnold

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Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia 由 Bouazzi, Habib, Thakur, Seema, Trujillo, Carlos, Alwasiyah, Mohammad Khalid, Munnich, Arnold

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Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells 由 Gérard, Xavier, Perrault, Isabelle, Munnich, Arnold, Kaplan, Josseline, Rozet, Jean-Michel

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In vitro readthrough of termination codons by gentamycin in the Stüve–Wiedemann Syndrome 由 Bellais, Samuel, Le Goff, Carine, Dagoneau, Nathalie, Munnich, Arnold, Cormier-Daire, Valérie

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SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions 由 Beneteau, Claire, Cavé, Hélène, Moncla, Anne, Dorison, Nathalie, Munnich, Arnold, Verloes, Alain, Leheup, Bruno

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CTG Trinucleotide Repeat “Big Jumps”: Large Expansions, Small Mice 由 Gomes-Pereira, Mário, Foiry, Laurent, Nicole, Annie, Huguet, Aline, Junien, Claudine, Munnich, Arnold, Gourdon, Geneviève

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The Computerized Adaptable Test Battery (BMT-i) for Rapid Assessment of Children's Academic Skills and Cognitive Functions: A Validation Study 由 Billard, Catherine, Thiébaut, Eric, Gassama, Sahawanatou, Touzin, Monique, Thalabard, Jean-Christophe, Mirassou, Anne, Munnich, Arnold

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External Validation of BMT-i Computerized Test Battery for Diagnosis of Learning Disabilities 由 Billard, Catherine, Jung, Camille, Munnich, Arnold, Gassama, Sahawanatou, Touzin, Monique, Mirassou, Anne, Willig, Thiébaut-Noël

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USH1A: Chronicle of a Slow Death 由 Gerber, Sylvie, Bonneau, Dominique, Gilbert, Brigitte, Munnich, Arnold, Dufier, Jean-Louis, Rozet, Jean-Michel, Kaplan, Josseline

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MSH2 ATPase Domain Mutation Affects CTG•CAG Repeat Instability in Transgenic Mice 由 Tomé, Stéphanie, Holt, Ian, Edelmann, Winfried, Morris, Glenn E., Munnich, Arnold, Pearson, Christopher E., Gourdon, Geneviève

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Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders 由 Steffann, Julie, Michot, Caroline, Borghese, Roxana, Baptista-Fernandes, Marcia, Monnot, Sophie, Bonnefont, Jean-Paul, Munnich, Arnold

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Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations 由 González-Serrano, Ligia Elena, Karim, Loukmane, Pierre, Florian, Schwenzer, Hagen, Rötig, Agnès, Munnich, Arnold, Sissler, Marie

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Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis 由 Darin, Niklas, Kadhom, Norman, Brière, Jean-Jacques, Chretien, Dominique, Bébéar, Cécile M, Rötig, Agnès, Munnich, Arnold, Rustin, Pierre

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Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency() 由 Serre, Valérie, Rozanska, Agata, Beinat, Marine, Chretien, Dominique, Boddaert, Nathalie, Munnich, Arnold, Rötig, Agnès, Chrzanowska-Lightowlers, Zofia M.

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Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood 由 Metodiev, Metodi D, Assouline, Zahra, Landrieu, Pierre, Chretien, Dominique, Bader-Meunier, Brigitte, Guitton, Corinne, Munnich, Arnold, Rötig, Agnès

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