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Myopathies constitutionnelles : place des examens complémentaires

 Francois Rivier , Ui Walther-Louvier , S Chabrier , C Cances , C Espil , et al.
Archives de Pédiatrie, 2012, ⟨10.1016/S0929-693X(12)71123-5⟩
Article dans une revue hal-02544490v1
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New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

 Anaïs Begemann , Heinrich Sticht , Amber Begtrup , Antonio Vitobello , Laurence Faivre , et al.
Genetics in Medicine, In press, 23, pp.543-554. ⟨10.1038/s41436-020-01011-x⟩
Article dans une revue hal-03029836v1
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Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy Patients

 Pierre Meyer , Cécile Notarnicola , Albano C Meli , Stefan Matecki , Gerald Hugon , et al.
International Journal of Molecular Sciences, 2021, 22 (23), pp.12985. ⟨10.3390/ijms222312985⟩
Article dans une revue hal-03474956v2
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Déficit moteur aigu non traumatique de l'enfant : orientations diagnostiques Acute motor deficit in childhood: Diagnosis management

 A. Roubertie , S Soëte , Pierre Meyer , B. Echenne , Francois Rivier , et al.
Archives de Pédiatrie, 2010, ⟨10.1016/j.arcped.2009.11.017⟩
Article dans une revue hal-02544526v1
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Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency

 Marie-Aude Spitz , Guy Lenaers , Majida Charif , Thomas Wirth , Jameleddine Chelly , et al.
Neuropediatrics, 2021, 52 (5), pp.410-414. ⟨10.1055/s-0040-1722678⟩
Article dans une revue hal-03124166v1
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Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

 Jack Collier , Claire Guissart , Monika Oláhová , Souphatta Sasorith , Florence Piron-Prunier , et al.
New England Journal of Medicine, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩
Article dans une revue hal-03270279v1
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Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy

 Claire Bar , Delphine Breuillard , Mathieu Kuchenbuch , Mélanie Jennesson , Gwenaël Le Guyader , et al.
Epilepsy & Behavior, 2022, 126, pp.108471. ⟨10.1016/j.yebeh.2021.108471⟩
Article dans une revue hal-03485808v1
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Unexpected neurological sequelae following propofol anesthesia in infants: Three case reports

 Pierre Meyer , C. Langlois , S Soëte , J Leydet , B. Echenne , et al.
Brain and Development, 2010, ⟨10.1016/j.braindev.2009.11.011⟩
Article dans une revue hal-02544549v1
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Polyradiculonévrite aiguë et glomérulonéphrite extramembraneuse au décours d'une primo-infection à Epstein-Barr virus chez une patiente de 12 ans

 Pierre Meyer , S Soëte , Patrice Raynaud , V. Henry , D. Morin , et al.
Archives de Pédiatrie, 2010, ⟨10.1016/j.arcped.2010.08.007⟩
Article dans une revue hal-02544511v1
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Assessment of left ventricular dyssynchrony by speckle tracking echocardiography in children with duchenne muscular dystrophy

 Nicolas Lanot , Marie Vincenti , Hamouda Abassi , Charlene Bredy , Audrey Agullo , et al.
International Journal of Cardiovascular Imaging, 2022, 38 (1), pp.79-89. ⟨10.1007/s10554-021-02369-y⟩
Article dans une revue hal-03562536v1
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Intraputaminal Gene Delivery in Two Patients with Aromatic L‐Amino Acid Decarboxylase Deficiency

 Marie‐céline François-Heude , Gaetan Poulen , Emmanuel Flamand Roze , Marie‐ange Nguyen Morel , Domitille Gras , et al.
Movement Disorders Clinical Practice, 2023, 10 (5), pp.811-818. ⟨10.1002/mdc3.13685⟩
Article dans une revue hal-04101510v1
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Monocentric retrospective clinical outcome in a group of 13 patients with opsoclonus myoclonus syndrome, proposal of diagnostic algorithm and review of the literature

 Sarai Urtiaga Valle , Sarah Souvannanorath , Nicolas Leboucq , Stephanie Haouy , Francois Rivier , et al.
European Journal of Paediatric Neurology, 2022, ⟨10.1016/j.ejpn.2022.07.002⟩
Article dans une revue hal-03727224v1
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Association of children's toothbrushing and fine motor skills: a cross-sectional study.

 Ana Cristina Mafla , Ramiro José Benavides , Pierre Meyer , Nicolas Giraudeau , Falk Schwendicke
Brazilian Oral Research, 2022, 36, pp.e103. ⟨10.1590/1807-3107bor-2022.vol36.0103⟩
Article dans une revue hal-03723433v1
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Encéphalite à parvovirus B19 de l'enfant

 Pierre Meyer , E. Jeziorski , L Bott-Gilton , V. Foulongne , Francois Rivier , et al.
Archives de Pédiatrie, 2011, 18 (12), pp.1310-1314. ⟨10.1016/j.arcped.2011.08.013⟩
Article dans une revue hal-02544496v1

Impact of dynamic IMRT and tomotherapy in pelvic cancers: A prospective dosimetric study with 51 patients

 S. Servagi-Vernat , P. Giraud , P. Fenoglietto , D. Azria , A. Lisbona , et al.
Cancer/Radiothérapie, 2014, 18 (2), pp.111 - 118. ⟨10.1016/j.canrad.2013.12.008⟩
Article dans une revue hal-01817609v1
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Hemolytic uremic syndrome related to Shiga-like toxin-producing Escherichia coli with encephalitis hiding a human herpesvirus-6 infection: a case report

 Sophie Mounier , Arthur Gavotto , Julie Tenenbaum , Pierre Meyer , Marc Fila , et al.
Journal of Medical Case Reports, 2021, 15 (1), ⟨10.1186/s13256-021-02873-8⟩
Article dans une revue hal-03238669v1
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Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

 Claire Bar , Giulia Barcia , Mélanie Jennesson , Gwenaël Le Guyader , Amy Schneider , et al.
Human Mutation, 2020, 41 (1), pp.69-80. ⟨10.1002/humu.23915⟩
Article dans une revue hal-02302579v1
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Context-dependent function of TSLP and IL-1β in skin allergic sensitization and atopic march

 Justine Segaud , Wenjin Yao , Pierre Marschall , François Daubeuf , Christine Lehalle , et al.
Nature Communications, 2022, 13 (1), pp.4703. ⟨10.1038/s41467-022-32196-1⟩
Article dans une revue hal-03862150v1
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L'encéphalomyopathie neuro-gastro-intestinale mitochondriale : un tableau d'anorexie mentale atypique

 A. Benureau , Pierre Meyer , O. Maillet , N. Leboucq , S. Legras , et al.
Archives de Pédiatrie, 2014, 21 (12), pp.1370-1374. ⟨10.1016/j.arcped.2014.08.006⟩
Article dans une revue hal-01756823v1
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Pregnancy in MNGIE: a clinical and metabolic honeymoon

 Pauline Pappalardo , Jean‐françois Benoist , Bridget Bax , Clarisse Carra‐dallière , Cecilia Marelli , et al.
Annals of Clinical and Translational Neurology, In press, ⟨10.1002/acn3.51202⟩
Article dans une revue hal-02995577v1
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Clinical Features and Risk of Relapse in Children and Adults with Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease

 Alvaro Cobo‐calvo , Anne Ruiz , Fabien Rollot , Georgina Arrambide , Romain Deschamps , et al.
Annals of Neurology, In press, 89, pp.30-41. ⟨10.1002/ana.25909⟩
Article dans une revue hal-03029833v1
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Optic neuropathy linked to ACAD9 pathogenic variants: a potentially riboflavin-responsive disorder?

 Naig Gueguen , Julie Piarroux , Emmanuelle Sarzi , Mehdi Benkirane , Gael Manes , et al.
Mitochondrion, 2021, pp.169-174. ⟨10.1016/j.mito.2021.05.002⟩
Article dans une revue hal-03234769v1
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Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome

 Claire Bar , Mathieu Kuchenbuch , Giulia Barcia , Amy Schneider , Mélanie Jennesson , et al.
Epilepsia, 2020, 61 (11), pp.2461-2473. ⟨10.1111/epi.16679⟩
Article dans une revue hal-02959318v1

Prognostic factors for the sequelae and severity of Guillain‐Barré syndrome in children

 Sophie Estrade , Clara Guiomard , Vincent Fabry , Éloïse Baudou , Claude Cances , et al.
Muscle & nerve. Supplement., 2019, 60 (6), pp.716-723. ⟨10.1002/mus.26706⟩
Article dans une revue hal-02544255v1
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Generation of three Duchenne Muscular Dystrophy patient-specific induced pluripotent 4 stem cell lines DMD_YoTaz_PhyMedEXp, DMD_RaPer_PhyMedEXp, 5 DMD_OuMen_PhyMedEXp (INSRMi008-A, INSRMi009-A and INSRMi010-A)

 Monia Souidi , Pascal Amedro , Pierre Meyer , Romain Desprat , Jean-Marc Lemaitre , et al.
Stem Cell Research, 2020, 49, ⟨10.1016/j.scr.2020.102094⟩
Article dans une revue hal-03018255v1
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Systematic MRI in NF1 children under six years of age for the diagnosis of optic pathway gliomas. Study and outcome of a French cohort

 Gaëlle Blanchard , Marie-Pierre Lafforgue , François Lion-François , Isabelle Kemlin , Diana Rodriguez , et al.
European Journal of Paediatric Neurology, 2016, 20 (2), pp.275 - 281. ⟨10.1016/j.ejpn.2015.12.002⟩
Article dans une revue hal-01803195v1

Clinical and Electrophysiological Characterization of Essential Tremor in 18 Children and Adolescents

 Julie Piarroux , Evgenia Dimopoulou , Guillaume Taieb , Sarah Souvannanorath , Emmanuel Roze , et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.), 2023, 13, pp.46. ⟨10.5334/tohm.803⟩
Article dans une revue hal-04383318v1
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Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiation

 Eugénie Ansseau , Jocelyn Eidahl , Céline Lancelot , Alexandra Tassin , Christel Matteotti , et al.
PLoS ONE, 2016, 11 (1), pp.e0146893. ⟨10.1371/journal.pone.0146893⟩
Article dans une revue hal-01802787v1

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

 Agathe Roubertie , Majida Charif , Pierre Meyer , Gael Manes , Isabelle Meunier , et al.
Annals of Clinical and Translational Neurology, 2019, ⟨10.1002/acn3.50860⟩
Article dans une revue hal-02197816v1
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Dual function of Langerhans cells in skin TSLP-promoted TFH differentiation in mouse atopic dermatitis

 Pierre Marschall , Ruicheng Wei , Justine Segaud , Wenjin Yao , Pierre Hener , et al.
Journal of Allergy and Clinical Immunology, 2020, 147 (5), pp.1778-1794. ⟨10.1016/j.jaci.2020.10.006⟩
Article dans une revue hal-03063945v1
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