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authIdHal_s : pierre-meyer
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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⟩
Journal articles hal-03485808v1
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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⟩
Journal articles hal-03270279v1
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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⟩
Journal articles hal-02544526v1
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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⟩
Journal articles hal-03029836v1

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⟩
Journal articles hal-03562536v1
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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⟩
Journal articles hal-03474956v2
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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⟩
Journal articles hal-02544490v1
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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⟩
Journal articles hal-03727224v1
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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⟩
Journal articles 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⟩
Journal articles hal-02544511v1
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Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

Gillian Rice , Candice Meyzer , Naïm Bouazza , Marie Hully , Nathalie Boddaert et al.
New England Journal of Medicine, 2018, 379 (23), pp.2275-2277. ⟨10.1056/NEJMc1810983⟩
Journal articles pasteur-01974160v1
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Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies

Marie‐céline François-Heude , Elise Lebigot , Emmanuel Roze , Marie Thérèse Abi Warde , Claude Cances et al.
European Journal of Neurology, 2022, 29 (11), pp.3229-3242. ⟨10.1111/ene.15515⟩
Journal articles hal-03806206v1
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Speckle-Tracking Echocardiography in Children With Duchenne Muscular Dystrophy: A Prospective Multicenter Controlled Cross-Sectional Study

Pascal Amedro , Marie Vincenti , Gregoire de La Villeon , Kathleen Lavastre , Catherine Barrea et al.
Journal of The American Society of Echocardiography, 2019, ⟨10.1016/j.echo.2018.10.017⟩
Journal articles hal-01996427v1
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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⟩
Journal articles hal-03063945v1
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Drosophila Spag is the homolog of RNA polymerase II-associated protein 3 (RPAP3) and recruits the heat shock proteins 70 and 90 (Hsp70 and Hsp90) during the assembly of cellular machineries

H. Benbahouche Nel , I. Iliopoulos , I. Torok , J. Marhold , J. Henri et al.
Journal of Biological Chemistry, 2014, 289 (9), pp.6236--47. ⟨10.1074/jbc.M113.499608⟩
Journal articles hal-02191553v1
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AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

Agathe Roubertie , Nelson Hieu , Charles-Joris Roux , Nicolas Leboucq , Gaël Manes et al.
Neurology Genetics, 2018, 4 (1), pp.e217. ⟨10.1212/NXG.0000000000000217⟩
Journal articles hal-01797330v1
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Partial acute transverse myelitis is a predictor of multiple sclerosis in children

Pierre Meyer , N. Leboucq , N. Molinari , A. Roubertie , M. Carneiro et al.
Multiple Sclerosis Journal, 2014, 20 (11), pp.1485-1493. ⟨10.1177/1352458514526943⟩
Journal articles hal-02544667v1
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Discordant sex in monozygotic XXY/XX twins: a case report

G. Tachon , G. Lefort , J. Puechberty , A. Schneider , C. Jeandel et al.
Human Reproduction, 2014, 29 (12), pp.2814 - 2820. ⟨10.1093/humrep/deu275⟩
Journal articles hal-01847082v1

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⟩
Journal articles hal-02197816v1
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High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

Mehdi Benkirane , Cecilia Marelli , Claire Guissart , Agathe Roubertie , Elizabeth Ollagnon et al.
Genetics in Medicine, 2021, ⟨10.1038/s41436-021-01250-6⟩
Journal articles hal-03282716v1
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FGF14 ‐related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9

Julie Piarroux , Florence Riant , Véronique Humbertclaude , Ganaelle Remerand , Jessica Hadjadj et al.
Annals of Clinical and Translational Neurology, 2020, ⟨10.1002/acn3.51005⟩
Journal articles hal-02507985v1
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Characterization of the GABRB2 ‐Associated Neurodevelopmental Disorders

Christelle Achkar , Merle Harrer , Lacey Smith , Mckenna Kelly , Sumaiya Iqbal et al.
Annals of Neurology, 2021, 89 (3), pp.573-586. ⟨10.1002/ana.25985⟩
Journal articles hal-03272477v1
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Cognitive impairment in children with CACNA 1A mutations

Véronique Humbertclaude , Florence Riant , Benjamin Krams , Valérie Zimmermann , Nicolas Nagot et al.
Developmental Medicine and Child Neurology, 2020, 62 (3), pp.330-337. ⟨10.1111/dmcn.14261⟩
Journal articles hal-02139175v1
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Prognostic value of contrast-enhanced MRI in Guillain–Barré syndrome in children

F. Althubaiti , C. Guiomard , Francois Rivier , Pierre Meyer , N. Leboucq et al.
Archives de Pédiatrie, In press, ⟨10.1016/j.arcped.2022.01.004⟩
Journal articles hal-03552647v1
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Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

Nathan Absalom , Vivian Liao , Katrine Johannesen , Elena Gardella , Julia Jacobs et al.
Nature Communications, 2022, 13 (1), pp.1822. ⟨10.1038/s41467-022-29280-x⟩
Journal articles hal-03633628v1
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Cerebral sinovenous thrombosis associated with head/neck infection in children: Clues for improved management

Lucie Narcy , Sabine Durand , Marion Grimaud , Nicolas Leboucq , David Grevent et al.
Developmental Medicine and Child Neurology, In press, ⟨10.1111/dmcn.15331⟩
Journal articles hal-03711579v1
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Paralysie faciale bilatérale au cours d’une infection à virus d’Epstein–Barr

M. Grassin , A. Rolland , N. Leboucq , A. Roubertie , Francois Rivier et al.
Archives de Pédiatrie, 2017, 24 (6), pp.564 - 567. ⟨10.1016/j.arcped.2017.03.009⟩
Journal articles hal-01762793v1
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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⟩
Journal articles hal-03029833v1

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⟩
Journal articles 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⟩
Journal articles hal-01756823v1