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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.
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.
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.
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.
Journal articles
hal-03029836v1
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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.
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.
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.
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.
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.
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.
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.
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.
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 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 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 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.
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.
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.
Journal articles
hal-01847082v1
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Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!
Agathe Roubertie
,
Majida Charif
,
Pierre Meyer
,
Gael Manes
,
Isabelle Meunier
et al.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Journal articles
hal-03029833v1
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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.
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.
Journal articles
hal-01756823v1
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