Quand suspecter une maladie musculaire chez l’enfant ?
C. Sarret
,
B. Khalili
,
B. Pontier
,
F. Laffargue
Journal articles
hal-02097098v1
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Electrical modulation of neuronal networks in brain-injured patients with disorders of consciousness: a systematic review.
Jean-Jacques Lemaire
,
Anna Sontheimer
,
Hachemi Nezzar
,
Bénédicte Pontier
,
Jacques Luaute
et al.
35èmes journées de l'Association de Neuro-Anesthésie Réanimation de Langue Française , Association de Neuro-Anesthésie Réanimation de Langue Française, Nov 2013, Paris, France
Conference papers
hal-01871122v1
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Clinical features of homozygous FIG4‐p.Ile41Thr Charcot‐Marie‐Tooth 4J patients
Maxime Lafontaine
,
Anne‐sophie Lia
,
Sylvie Bourthoumieu
,
Hélène Beauvais‐dzugan
,
Paco Derouault
et al.
Journal articles
hal-03124483v1
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Brain diffusion imaging and tractography to distinguish clinical severity of human PLP1-related disorders
Catherine Sarret
,
Jean-Jacques Lemaire
,
Anna Sontheimer
,
Jérôme Coste
,
Nadia Savy
et al.
2ème journée conjointe TGI MPS TechMed , CHU de Clermont-Ferrand, Université Clermont Auvergne, Institut Pascal, Institut de Chimie de Clermont-Ferrand, Sep 2018, Clermont-Ferrand, France
Conference papers
hal-01949468v1
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Conscious behaviors following bilateral pallido-thalamic low frequency stimulation in patients with continuing disorders of consciousness
Jean-Jacques Lemaire
,
Anna Sontheimer
,
Bruno Pereira
,
Jérôme Coste
,
Sarah, D Rosenberg
et al.
1ère journée conjointe TGI TechMed , CHU de Clermont-Ferrand, Université Clermont Auvergne, Institut Pascal, Sep 2017, Clermont-Ferrand, France
Conference papers
hal-01654638v1
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Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC 16A2 mutations
Ganaelle Remerand
,
Odile Boespflug‐tanguy
,
Davide Tonduti
,
Renaud Touraine
,
Diana Rodriguez
et al.
Journal articles
hal-02267879v1
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Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.
Catherine Vaurs-Barrière
,
Marlène Deville
,
Catherine Sarret
,
Geneviève Giraud
,
Vincent Des Portes
et al.
Journal articles
istex
hal-00655300v1
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Neural correlates of rehabilitation program with robot-assisted intensive therapy in one case of Holmes tremor
Bénédicte Pontier
,
Anna Sontheimer
,
Jerome Coste
,
Youssef El Ouadih
,
Anne-Marie Briançon
et al.
Journal articles
hal-02890979v1
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Atypical clinical and radiological course of a patient with Canavan disease
Catherine Sarret
,
Odile Boespflug-Tanguy
,
Diana Rodriguez
Journal articles
hal-02097121v1
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Leukodystrophies and genetic leukoencephalopathies in children
Catherine Sarret
Journal articles
hal-02236890v1
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Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations
Aurore Garde
,
Jenny Cornaton
,
Arthur Sorlin
,
Sébastien Moutton
,
Claire Nicolas
et al.
Journal articles
hal-03124488v1
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Lack of Long-Term Neurologic Efficacy of Zileuton in Sjögren–Larsson's Syndrome
Catherine Sarret
,
Samia Pichard
,
Alexandra Afenjar
,
Odile Boespflug-Tanguy
Journal articles
hal-01655988v1
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KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP
Mathieu Kuchenbuch
,
Giulia Barcia
,
Nicole Chemaly
,
Emilie Carme
,
Agathe Roubertie
et al.
Journal articles
hal-03124507v1
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Clinical and biochemical outcome of a patient with pyridoxine-dependent epilepsy treated by triple therapy (pyridoxine supplementation, lysine-restricted diet, and arginine supplementation)
Perrine Minet
,
Catherine Sarret
,
Ania Miret
,
Karine Mention
,
Jean François Benoist
et al.
Journal articles
hal-03124490v1
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Brain Diffusion Imaging and Tractography to Distinguish Clinical Severity of Human PLP1-Related Disorders
Catherine Sarret
,
Jean-Jacques Lemaire
,
Anna Sontheimer
,
Jerome Coste
,
Nadia Savy
et al.
Journal articles
hal-01952380v1
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Time-course of myelination and atrophy on cerebral imaging in 35 patients with PLP1 -related disorders
Catherine Sarret
,
Jean-Jacques Lemaire
,
Davide Tonduti
,
Anna Sontheimer
,
Jérôme Coste
et al.
Journal articles
hal-01654750v1
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Secondary Bone Defect in Neuromuscular Diseases in Childhood: A Longitudinal “Muscle-Bone Unit” Analysis
C. Ribstein
,
D. Courteix
,
N. Rabiau
,
C. Bommelaer
,
Y. Bourdeau
et al.
Journal articles
hal-02097110v1
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Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability
Paul r. Kasher
,
Katherine e. Schertz
,
Megan Thomas
,
Adam Jackson
,
Silvia Annunziata
et al.
Journal articles
hal-02097118v1
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Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
Marguerite Miguet
,
Laurence Faivre
,
Jeanne Amiel
,
Mathilde Nizon
,
Renaud Touraine
et al.
Journal articles
hal-02064139v1
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Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study
Frédérique Audic
,
Marta Gomez Garcia de La Banda
,
Delphine Bernoux
,
Paola Ramirez-Garcia
,
Julien Durigneux
et al.
Journal articles
hal-03124498v1
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Electrical modulation of neuronal networks in brain-injured patients with disorders of consciousness: A systematic review
Jean-Jacques Lemaire
,
Anna Sontheimer
,
Hachemi Nezzar
,
Bénédicte Pontier
,
Jacques Luauté
et al.
Journal articles
hal-01577854v1
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Evaluation of the capillary assay of C-reactive protein (CRP) through the lenght of consultation in pediatric emergencies and its economic impact.
Marine Roulliaud
,
Bruno Pereira
,
Justine Cosme
,
Charline Mourgues
,
Catherine Sarret
et al.
Journal articles
hal-01919700v1
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Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability
N B Tan
,
A T Pagnamenta
,
M P Ferla
,
J Gadian
,
B Hy Chung
et al.
Journal articles
hal-03602370v1
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Chronic DBS stimulation of minimally conscious state: methodological issues
Jean-Jacques Lemaire
,
Bénédicte Pontier
,
Anna Sontheimer
,
Fabien Feschet
,
Jérôme Coste
et al.
Conference papers
hal-01654763v1
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Assessment of the advantage of the serum S100B protein biomonitoring in the management of paediatric mild traumatic brain injury—PROS100B: protocol of a multicentre unblinded stepped wedge cluster randomised trial
Damien Bouvier
,
David Balayssac
,
Julie Durif
,
Charline Mourgues
,
Catherine Sarret
et al.
Journal articles
hal-02237348v1
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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.
Journal articles
hal-02097112v1
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Maps of the adult human hypothalamus
Jean-Jacques Lemaire
,
Hachemi Nezzar
,
Laurent Sakka
,
Yves Boirie
,
Denys Fontaine
et al.
Journal articles
hal-02073726v1
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Initiation à la pédagogie narrative en pédiatrie : le focus-groupe pédagogique
E. Merlin
,
A. Chausset
,
M. Verdan
,
B. Cambon
,
C. Sarret
et al.
Journal articles
hal-02097062v1
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Prenatal diagnosis of hemimegalencephaly revealing tuberous sclerosis complex
S. Bruet
,
C. Francannet
,
F. Marguet
,
M. Biard
,
Catherine Sarret
et al.
Ultrasound in Obstetrics and Gynecology = Ultrasound in Obstetrics & Gynecology , 2020, 55 (5), pp.688-689.
⟨10.1002/uog.21874⟩
Journal articles
hal-03124504v1
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The Brainstem and Cerebral Activation
Jean-Jacques Lemaire
,
Anna Sontheimer
,
Guillaume Coll
,
Catherine Sarret
,
Hachemi Nezzar
et al.
Robert Lalonde. The Brainstem and Behavior , Nova Science Publishers, Inc., 2017, 978-1-53612-846-8 (eBook)
Book sections
hal-01657295v1
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