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authIdHal_s : catherine-sarret

Quand suspecter une maladie musculaire chez l’enfant ?

C. Sarret , B. Khalili , B. Pontier , F. Laffargue
Perfectionnement en Pédiatrie, 2018, 1 (3), pp.205-210. ⟨10.1016/j.perped.2018.07.006⟩
Journal articles hal-02097098v1

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

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.
Annals of Clinical and Translational Neurology, 2021, ⟨10.1002/acn3.51175⟩
Journal articles hal-03124483v1

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

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

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.
Developmental Medicine and Child Neurology, 2019, 61 (12), pp.1439-1447. ⟨10.1111/dmcn.14332⟩
Journal articles hal-02267879v1

Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.

Catherine Vaurs-Barrière , Marlène Deville , Catherine Sarret , Geneviève Giraud , Vincent Des Portes et al.
Annals of Neurology, 2009, 65 (1), pp.114-8. ⟨10.1002/ana.21579⟩
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.
Annals of Physical and Rehabilitation Medicine, 2021, 64 (4), pp.101411. ⟨10.1016/j.rehab.2020.06.002⟩
Journal articles hal-02890979v1

Atypical clinical and radiological course of a patient with Canavan disease

Catherine Sarret , Odile Boespflug-Tanguy , Diana Rodriguez
Metabolic Brain Disease, 2016, 31 (2), pp.475-479. ⟨10.1007/s11011-015-9767-9⟩
Journal articles hal-02097121v1

Leukodystrophies and genetic leukoencephalopathies in children

Catherine Sarret
Revue Neurologique, 2019, ⟨10.1016/j.neurol.2019.04.003⟩
Journal articles hal-02236890v1

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.
Clinical Genetics, 2020, ⟨10.1111/cge.13894⟩
Journal articles hal-03124488v1

Lack of Long-Term Neurologic Efficacy of Zileuton in Sjögren–Larsson's Syndrome

Catherine Sarret , Samia Pichard , Alexandra Afenjar , Odile Boespflug-Tanguy
Neuropediatrics, 2017, 48 (03), pp.205 - 206. ⟨10.1055/s-0037-1601856⟩
Journal articles hal-01655988v1

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.
Brain - A Journal of Neurology , 2019, 142 (10), pp.2996-3008. ⟨10.1093/brain/awz240⟩
Journal articles hal-03124507v1

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.
Acta Neurologica Belgica, 2020, ⟨10.1007/s13760-020-01467-3⟩
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.
Developmental Neuroscience, 2018, 40 (4), pp.301-311. ⟨10.1159/000492218⟩
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.
Developmental Medicine and Child Neurology, 2016, 58 (7), pp.706-713. ⟨10.1111/dmcn.13025⟩
Journal articles hal-01654750v1

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.
Neuropediatrics, 2018, 49 (06), pp.397-400. ⟨10.1055/s-0038-1666846⟩
Journal articles hal-02097110v1

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.
American Journal of Human Genetics, 2016, 98 (2), pp.363-372. ⟨10.1016/j.ajhg.2015.12.014⟩
Journal articles hal-02097118v1

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 of Medical Genetics, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
Journal articles hal-02064139v1

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.
Orphanet Journal of Rare Diseases, 2020, 15 (1), ⟨10.1186/s13023-020-01414-8⟩
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.
Annales Françaises d'Anesthésie et de Réanimation, 2014, 33 (2), pp.88 - 97. ⟨10.1016/j.annfar.2013.11.007⟩
Journal articles hal-01577854v1

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.
Annales de Biologie Clinique, 2018, pp.545-552. ⟨10.1684/abc.2018.1378⟩
Journal articles hal-01919700v1

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 of Medical Genetics, 2021, 1, pp.107462. ⟨10.1136/jmedgenet-2020-107462⟩
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.
22nd Congress ESSFN Madrid, Sep 2016, Madrid, Spain. pp.1 - 132, ⟨10.1159/000448961⟩
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.
BMJ Open, 2019, 9 (5), pp.e027365. ⟨10.1136/bmjopen-2018-027365⟩
Journal articles hal-02237348v1

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.
Neurology, 2019, 92 (8), pp.e852-e865. ⟨10.1212/WNL.0000000000006948⟩
Journal articles hal-02097112v1

Maps of the adult human hypothalamus

Jean-Jacques Lemaire , Hachemi Nezzar , Laurent Sakka , Yves Boirie , Denys Fontaine et al.
Surgical Neurology International, 2013, 4 (3), pp.156-63. ⟨10.4103/2152-7806.110667⟩
Journal articles hal-02073726v1

Initiation à la pédagogie narrative en pédiatrie : le focus-groupe pédagogique

E. Merlin , A. Chausset , M. Verdan , B. Cambon , C. Sarret et al.
Archives de Pédiatrie, 2016, 23 (8), pp.792-797. ⟨10.1016/j.arcped.2016.05.009⟩
Journal articles hal-02097062v1

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

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