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Motor Unit Number Index ( MUNIX ) in Control Children: Reference Values and Reliability
Christophe Boulay
,
Emilien Delmont
,
Frédérique Audic
,
Cécile Halbert
,
Sébastien Pesenti
et al.
Article dans une revue
hal-05507607v1
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Innovative treatments of pediatric spinal muscular atrophy: The decision-making process in France
Maelle Biotteau
,
Juliette Ropars
,
Brigitte Chabrol
,
Isabelle Desguerre
,
Christine Barnéria
et al.
Article dans une revue
hal-05525123v1
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PERIGENOMED-CLINICS 1—the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France
Camille Level
,
Christel Thauvin-Robinet
,
C Binquet
,
Yannis Duffourd
,
Emeline Davoine
et al.
Article dans une revue
hal-05345188v1
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Difficulty of caring for children in danger or at risk of danger in Var (a French department) by general practitioners and private pediatricians
Clemence Desmarets
,
Julie Berbis
,
Paul Casha
,
Violaine Bresson
,
Emmanuelle Bosdure
et al.
Article dans une revue
hal-05589507v1
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Continuous deep sedation until death of children at the end of life: French physicians’ opinions
Carole-Anne Pisa
,
Pierre Le Coz
,
Marie-ange Einaudi
,
Barthélémy Tosello
,
Maria Katsogiannou
et al.
Journal of Palliative Medicine, In press
Article dans une revue
hal-04344178v1
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Reduced plantar-flexors extensibility but improved selective motor control associated with age in young children with unilateral cerebral palsy and equinovalgus gait
Christophe Boulay
,
Morgan Sangeux
,
Guillaume Authier
,
Michel Jacquemier
,
Andrea Merlo
et al.
Article dans une revue
hal-03991640v1
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Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
Heba Morsy
,
Mehdi Benkirane
,
Elisa Cali
,
Clarissa Rocca
,
Kristina Zhelcheska
et al.
Article dans une revue
hal-03840317v1
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Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy
Perry Shieh
,
Gary Elfring
,
Panayiota Trifillis
,
Claudio Santos
,
Stuart Peltz
et al.
Article dans une revue
hal-05469333v1
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Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports
Marie Hully
,
Christine Barnérias
,
Delphine Chabalier
,
Sophie Le Guen
,
Virginie Germa
et al.
Article dans une revue
hal-02500990v1
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A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management
Emmanuelle Lagrue
,
Celine Dogan
,
Marie de Antonio
,
Frédérique Audic
,
Nathalie Bach
et al.
Article dans une revue
hal-02097112v1
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A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing
Martin Krahn
,
Valérie Biancalana
,
Mathieu Cerino
,
Aurélien Perrin
,
Laurence Michel-Calemard
et al.
Article dans une revue
hal-02434896v1
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Feedforward motor control in developmental dyslexia and developmental coordination disorder: Does comorbidity matter?
Fabien Cignetti
,
Marianne Vaugoyeau
,
Aurelie Fontan
,
Marianne Jover
,
Marie-Odile Livet
et al.
Article dans une revue
hal-01991955v1
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Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation
Juliette Bacquet
,
Tanya Stojkovic
,
Amandine Boyer
,
Nathalie Martini
,
Frédérique Audic
et al.
Article dans une revue
hal-01984168v1
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Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration
Nathalie Villeneuve
,
Affef Abidi
,
Pierre Cacciagli
,
Cecile Mignon-Ravix
,
Brigitte Chabrol
et al.
Article dans une revue
hal-01668649v1
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Table ronde 6 - Quelles sont les responsabilités de la société vis-à-vis des personnes atteintes de maladies rares ?
Gilles Roche
,
Florence Bordon-Pallier
,
Brigitte Chabrol
,
Pierre Le Coz
,
Anne-Sophie Lapointe
et al.
Médecine/Sciences, 2016, RARE 2015 – Les maladies rares : quelles attentes et quels enjeux pour la société ? 4e édition (Montpellier, France, 26 et 27 novembre 2015), 32 (Hors série n°1), pp.48-54. ⟨10.1051/medsci/201632s112⟩
Article dans une revue
hal-01436197v1
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Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation
Chloe Di Meglio
,
Nathalie Bonello-Palot
,
Christophe Boulay
,
Mathieu Milh
,
Caroline Ovaert
et al.
Article dans une revue
hal-01469048v1
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Cerebral (18)FluoroDeoxy-Glucose Positron Emission Tomography in paediatric anti N-methyl-D-aspartate receptor encephalitis: A case series
Stanislas Lagarde
,
Anne Lepine
,
Emilie Caietta
,
Florence Pelletier
,
José Boucraut
et al.
Article dans une revue
istex
hal-01473978v1
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Normalisation of brain spectroscopy findings in Niemann–Pick disease type C patients treated with miglustat
Frédéric Sedel
,
Brigitte Chabrol
,
Bertrand Audoin
,
Elsa Kaphan
,
Christine Tranchant
et al.
Article dans une revue
hal-01377872v1
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Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study
Nathalie Guffon
,
Bénédicte Heron
,
Brigitte Chabrol
,
François Feillet
,
Vincent Montauban
et al.
Article dans une revue
hal-01215937v1
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Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases
Chloé Di Meglio
,
Gaetan Lesca
,
Nathalie Villeneuve
,
Caroline Lacoste
,
Affef Abidi
et al.
Article dans une revue
hal-01664313v1
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The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.
Alexia Boizot
,
Yasmina Talmat-Amar
,
Deborah Morrogh
,
Nancy Kuntz
,
Cecile Halbert
et al.
Article dans une revue
inserm-00989733v1
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Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.
Cécile Rouzier
,
Annabelle Chaussenot
,
Valérie Serre
,
Konstantina Fragaki
,
Sylvie Bannwarth
et al.
Article dans une revue
hal-00968707v1
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Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
Mathieu Milh
,
Nadia Boutry-Kryza
,
Julie Sutera-Sardo
,
Cyril Mignot
,
Stéphane Auvin
et al.
Article dans une revue
inserm-00829466v1
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Novel Compound Heterozygous Mutations in TBC 1 D 24 Cause Familial Malignant Migrating Partial Seizures of Infancy
Mathieu Milh
,
Antonio Falace
,
Nathalie Villeneuve
,
Nicola Vanni
,
Pierre Cacciagli
et al.
Article dans une revue
istex
hal-01668674v1
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Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials
Véronique Humbertclaude
,
Dalil Hamroun
,
Kamel Bezzou
,
Carole Bérard
,
Odile Boespflug-Tanguy
et al.
Article dans une revue
istex
hal-01681808v1
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Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
Bénédicte Héron
,
Vassili Valayannopoulos
,
Julien Baruteau
,
Brigitte Chabrol
,
Hélène Ogier
et al.
Article dans une revue
inserm-00723766v1
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Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.
David Cheillan
,
Marie Joncquel-Chevalier Curt
,
Gilbert Briand
,
Gajja Salomons
,
Karine Mention-Mulliez
et al.
Article dans une revue
inserm-00780328v1
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Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations
Mathieu Milh
,
Nathalie Villeneuve
,
Mondher Chouchane
,
Anna Kaminska
,
Cécile Laroche
et al.
Article dans une revue
hal-01668681v1
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The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein
Cécile Rouzier
,
Sandie Le Guédard-Méreuze
,
Konstantina Fragaki
,
Valérie Serre
,
Julie Miro
et al.
Article dans une revue
hal-00557375v1
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Anticipatory postural adjustments in a bimanual load-lifting task in children with developmental coordination disorder
Marianne Jover
,
Christina Schmitz
,
Laurie Centelles
,
Brigitte Chabrol
,
Christine Assaiante
Developmental Medicine and Child Neurology - Developmental Medicine & Child Neurology, 2010, 52 (9), pp.850-855
Article dans une revue
hal-01989663v1
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Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.
Laurent Villard
,
Pierre Cacciagli
,
Marie-Reine Haddad
,
Cecile Mignon-Ravix
,
Bilal El-Waly
et al.
Article dans une revue
hal-00563106v1
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Multiexon deletions account for 15% of Congenital Myasthenic Syndrome with RAPSN mutations after negative DNA Sequencing
Karen Gaudon
,
Isabelle Pénisson-Besnier
,
Brigitte Chabrol
,
Françoise Bouhour
,
Laurence Demay
et al.
Article dans une revue
istex
hal-00574007v1
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Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Vincent Laugel
,
Cécile Dalloz
,
M. Durand
,
Florence Sauvanaud
,
Hans-Ulrik Kristensen
et al.
Article dans une revue
inserm-00436454v1
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Anticipatory postural adjustments in a bimanual load-lifting task in children with developmental coordination disorder
Marianne Jover
,
Christina Schmitz
,
Laurie Centelles
,
Brigitte Chabrol
,
Christine Assaiante
Article dans une revue
hal-01772106v1
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Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.
Carlos Cardoso
,
Amber Boys
,
Ellena Parrini
,
Cecile Mignon-Ravix
,
Jacinta M. Mcmahon
et al.
Article dans une revue
inserm-00483473v1
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Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
Mathieu Anheim
,
Ben Monga
,
Marie Fleury
,
P. Charles
,
Clara Barbot
et al.
Article dans une revue
inserm-00437772v1
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Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?
Mélissa Yana Frédéric
,
Fabienne Clot
,
Laura Cif
,
Arnaud Blanchard
,
Alexandra Dürr
et al.
Article dans une revue
inserm-00343965v1
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TCF4 deletions in Pitt-Hopkins Syndrome.
Irina Giurgea
,
Chantal Missirian
,
Pierre Cacciagli
,
Sandra Whalen
,
Tessa Fredriksen
et al.
Article dans une revue
inserm-00325404v1
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Anticipatory postural adjustments in a bimanual load-lifting task in children with Duchenne muscular dystrophy
Marianne Jover
,
Christina Schmitz
,
Emmanuelle Bosdure
,
Brigitte Chabrol
,
Christine Assaiante
Article dans une revue
istex
hal-01989696v1
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Développement de l'anticipation posturale chez l'enfant sain et pathologique: revue de travaux
Marianne ´ Jover
,
Christina Schmitz
,
Emmanuelle Bosdure
,
Brigitte Chabrol
,
Christine Assaiante
A.N.A.E. Approche neuropsychologique des apprentissages chez l'enfant, 2005
Article dans une revue
hal-01792526v1
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L'autisme : une pathologie du codage temporel ?
Bruno Gepner
,
Jean Massion
,
Carole Tardif
,
Olivier Gorgy
,
Marie-Odile Livet
et al.
Travaux interdisciplinaires du Laboratoire Parole et Langage, 2002, 21, pp.177-218
Article dans une revue
hal-00311512v1
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