Publications by authors named "Christine Ioos"

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Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
Justine Géraud, Klaus Dieterich, John Rendu, Emmanuelle Uro Coste, Murielle Dobrzynski, Christine Ioos

J Med Genet· September 2021

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Tremor-like subcortical myoclonus in STXBP1 encephalopathy.
Anna Loussouarn, Diane Doummar, Yara Beaugendre, Thierry Bienvenu, Perrine Charles, Christine Ioos

Eur J Paediatr Neurol· September 2021

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16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
Laïla Allach El Khattabi, Solveig Heide, Jean-Hubert Caberg, Joris Andrieux, Martine Doco Fenzy, Christine Ioos

J Med Genet· May 2020

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Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time.
Eleni Panagiotakaki, Diane Doummar, Erika Nogue, Nicolas Nagot, Gaetan Lesca, Christine Ioos

Neurology· March 2020

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Functional classification of ATM variants in ataxia-telangiectasia patients.
Alice Fiévet, Dorine Bellanger, Guillaume Rieunier, Catherine Dubois d'Enghien, Julia Sophie, Christine Ioos

Hum Mutat· October 2019

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Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Cyril Mignot, Aoife C McMahon, Claire Bar, Philippe M Campeau, Claire Davidson, Christine Ioos

Genet Med· August 2019

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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Cyril Mignot, Aoife C McMahon, Claire Bar, Philippe M Campeau, Claire Davidson, Christine Ioos

Genet Med· April 2019

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Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.
Alice Kuster, Jean-Baptiste Arnoux, Magalie Barth, Delphine Lamireau, Nada Houcinat, Christine Ioos

J Inherit Metab Dis· January 2018

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Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.
David Gómez-Andrés, Ivana Dabaj, Dominique Mompoint, Karolina Hankiewicz, Viviane Azzi, Christine Ioos

Muscle Nerve· August 2016

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Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
Sophie Nicole, Amina Chaouch, Torberg Torbergsen, Stéphanie Bauché, Elodie de Bruyckere, Christine Ioos

Brain· September 2014

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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, Mathieu Milh, Renaud Touraine, Christine Ioos

Orphanet J Rare Dis· March 2012

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Type I hyperprolinemia: genotype/phenotype correlations.
Audrey Guilmatre, Solenn Legallic, Gary Steel, Alecia Willis, Gabriella Di Rosa, Christine Ioos

Hum Mutat· August 2010

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[Jeune'disease (asphyxiating thoracic dystrophy) and respiratory failure: importance of early respiratory management with periodic hyperinsufflation].
Claire Do Ngoc Thanh, Annie Barois, Brigitte Estournet-Mathiaud, Jacques Bataille, Christine Ioos

Bull Acad Natl Med· October 2007

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[Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene].
Frédéric Chevessier, Brice Faraut, Aymeric Ravel-Chapuis, Pascale Richard, Karen Gaudon, Christine Ioos

J Soc Biol· October 2005

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MUSK, a new target for mutations causing congenital myasthenic syndrome.
Frédéric Chevessier, Brice Faraut, Aymeric Ravel-Chapuis, Pascale Richard, Karen Gaudon, Christine Ioos

Hum Mol Genet· December 2004

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Respiratory capacity course in patients with infantile spinal muscular atrophy.
Christine Ioos, Danièle Leclair-Richard, Slah Mrad, Annie Barois, Brigitte Estournet-Mathiaud

Chest· September 2004

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