Search Results - Munnich, Arnold 

Refine Results
  1. 1
    Regional siderosis: a new challenge for iron chelation therapy

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

    Published 2013
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  2. 2
    Low dose clozapine controls adult-onset psychosis associated with the neurogenic ataxia-retinitis pigmentosa (NARP) mutation

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

    Published 2016
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  3. 3
    Authors' reply — Clozapine for mitochondrial psychosis

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

    Published 2017
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  4. 4
    Stabilization of RNA during laser capture microdissection by performing experiments under argon atmosphere or using ethanol as a solvent in staining solutions

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

    Published 2008
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  5. 5
    Transcriptionally Repressive Chromatin Remodelling and CpG Methylation in the Presence of Expanded CTG-Repeats at the DM1 Locus

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

    Published 2013
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  6. 6
    Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]

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

    Published 2015
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  7. 7
    Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia

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

    Published 2016
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  8. 8
    Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells

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

    Published 2015
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  9. 9
    In vitro readthrough of termination codons by gentamycin in the Stüve–Wiedemann Syndrome

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

    Published 2010
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  10. 10
    SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions

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

    Published 2009
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  11. 11
    CTG Trinucleotide Repeat “Big Jumps”: Large Expansions, Small Mice

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

    Published 2007
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  12. 12
    The Computerized Adaptable Test Battery (BMT-i) for Rapid Assessment of Children's Academic Skills and Cognitive Functions: A Validation Study

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

    Published 2021
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  13. 13
    External Validation of BMT-i Computerized Test Battery for Diagnosis of Learning Disabilities

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

    Published 2021
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  14. 14
    USH1A: Chronicle of a Slow Death

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

    Published 2006
    Get full text Get full text
    Text
    Save to List
    Saved in:
  15. 15
    MSH2 ATPase Domain Mutation Affects CTG•CAG Repeat Instability in Transgenic Mice

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

    Published 2009
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  16. 16
    Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders

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

    Published 2014
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  17. 17
    Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations

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

    Published 2018
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  18. 18
    Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis

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

    Published 2003
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  19. 19
    Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency()

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

    Published 2013
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  20. 20
    Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood

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

    Published 2015
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:

Search Tools: