Publications by authors named "Cyril Gitiaux"

51Publications

De novo mutations of are responsible for arthrogryposis broadening the -related phenotypes.

J Med Genet 2020 Sep 14. Epub 2020 Sep 14.

Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin Bicêtre, 94276, France

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http://dx.doi.org/10.1136/jmedgenet-2020-107166DOI Listing
September 2020

Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time.

Neurology 2020 03 2;94(13):e1378-e1385. Epub 2020 Mar 2.

From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence "Déficiences Intellectuelles de Causes Rares" (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France.

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http://dx.doi.org/10.1212/WNL.0000000000009175DOI Listing
March 2020

Severe Abdominal Manifestations in Juvenile Dermatomyositis.

J Pediatr Gastroenterol Nutr 2020 02;70(2):247-251

Laboratoire d'Immunogénétique des maladies auto-immunes de l'enfant, Institut Imagine, INSERM U 1163.

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http://dx.doi.org/10.1097/MPG.0000000000002575DOI Listing
February 2020

Diagnosis and Management of Carpal Tunnel Syndrome in Children with Mucopolysaccharidosis: A 10 Year Experience.

Diagnostics (Basel) 2019 Dec 20;10(1). Epub 2019 Dec 20.

APHP, Hôpital Raymond Poincaré, Hôpitaux Universitaires Paris Ile-de-France Ouest, Pôle pédiatrique, Service de Pédiatrie, 92380 Garches, France.

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http://dx.doi.org/10.3390/diagnostics10010005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7169406PMC
December 2019

[Dermatomyositis: new antibody, new classification].

Med Sci (Paris) 2019 Nov 20;35 Hors série n° 2:18-23. Epub 2019 Dec 20.

Service de médecine interne et immunologie clinique, APHP Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1051/medsci/2019178DOI Listing
November 2019

Orofacial motor dysfunction in Moebius syndrome.

Dev Med Child Neurol 2020 04 12;62(4):521-527. Epub 2019 Nov 12.

Centre de Référence des Fentes et Malformations Faciales 'MAFACE', Hôpital Necker-Enfants-Malades, Paris, France.

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http://dx.doi.org/10.1111/dmcn.14379DOI Listing
April 2020

Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF.

Mol Genet Metab Rep 2019 Dec 23;21:100522. Epub 2019 Oct 23.

Fédération de Génétique et Institut Imagine, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819737PMC
December 2019

Expanding the clinical spectrum of mutations.

Mol Genet Metab Rep 2019 Dec 13;21:100501. Epub 2019 Aug 13.

Fédération de Génétique et Institut Imagine, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6706677PMC
December 2019

PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings.

Eur J Paediatr Neurol 2018 Sep 22;22(5):854-861. Epub 2018 May 22.

Reference Center for Neuromuscular Diseases, FILNEMUS, Paris, France; Department of Pediatric Neurology, Necker-Enfants Malades Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1016/j.ejpn.2018.05.005DOI Listing
September 2018

Pathogenesis of cranial neuropathies in Moebius syndrome: Electrodiagnostic orofacial studies.

Muscle Nerve 2018 Feb 9. Epub 2018 Feb 9.

Service de neurophysiologie clinique pédiatrique & centre de référence des maladies neuromusculaires, Hôpital Necker-Enfants-Malades, Paris, France.

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http://dx.doi.org/10.1002/mus.26095DOI Listing
February 2018

Cell sorting of various cell types from mouse and human skeletal muscle.

Methods 2018 02 19;134-135:50-55. Epub 2017 Dec 19.

Institut NeuroMyoGène, Univ Lyon, Université Claude Bernard Lyon 1, INSERM U1217, CNRS UMR5310, Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ymeth.2017.12.013DOI Listing
February 2018

Coupling between Myogenesis and Angiogenesis during Skeletal Muscle Regeneration Is Stimulated by Restorative Macrophages.

Stem Cell Reports 2017 12 30;9(6):2018-2033. Epub 2017 Nov 30.

Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Descartes, PRES Sorbonne-Paris-Cité, 75014 Paris, France; Institut NeuroMyoGène, Université Lyon, Université Claude Bernard Lyon 1, INSERM U1217, CNRS UMR5534, 16 rue Raphael Dubois, Bâtiment Gregor Mendel, 69100 Villeurbanne, France. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2017.10.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785732PMC
December 2017

Presentations and outcomes of juvenile dermatomyositis patients admitted to intensive care units.

Rheumatology (Oxford) 2017 Oct;56(10):1814-1816

Service d'Immunologie, Hématologie et Rhumatologie Pédiatrique, Centre de Référence National des Maladies Rhumatologiques et Inflammatoires Pédiatriques (CERHUMIP), Hôpital Necker - Enfants Malades, AP-HP Paris.

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http://dx.doi.org/10.1093/rheumatology/kex267DOI Listing
October 2017

Clinical features and evolution of juvenile myasthenia gravis in a French cohort.

Muscle Nerve 2018 04 11;57(4):603-609. Epub 2017 Oct 11.

APHM Service de Neuropédiatrie, Hôpital La Timone-Enfants, 264, Rue St Pierre Marseille, 13385, cedex 5, France.

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http://dx.doi.org/10.1002/mus.25965DOI Listing
April 2018

Sleep in infants with congenital myasthenic syndromes.

Eur J Paediatr Neurol 2017 Nov 21;21(6):842-851. Epub 2017 Jul 21.

AP-HP, Hôpital Necker-Enfants Malades, Pediatric Noninvasive Ventilation and Sleep Unit, Paris, France; INSERM U955, Equipe 13, Créteil, France; Paris Descartes University, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.07.010DOI Listing
November 2017

Acute axonal neuropathy subtype of Guillain Barré syndrome in a French pediatric series: Adequate follow-up may require repetitive electrophysiological studies.

Eur J Paediatr Neurol 2017 Nov 17;21(6):891-897. Epub 2017 Jul 17.

Centre de référence des pathologies neuromusculaires "Garches-Necker-Mondor-Hendaye", FILNEMUS, France; Service d'explorations fonctionnelles, Laboratoire de neurophysiologie clinique, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.07.005DOI Listing
November 2017

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle.

Neuromuscul Disord 2016 10 25;26(10):681-687. Epub 2016 Jul 25.

Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GHU La Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France; Filière Nationale de Maladies Neuromusculaires (FILNEMUS), Marseille, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.07.005DOI Listing
October 2016

Motor neuropathy contributes to crouching in patients with Dravet syndrome.

Neurology 2016 07 17;87(3):277-81. Epub 2016 Jun 17.

From the Departments of Pediatric Neurology (C.G., N.C., C.B., I.D., M.H., C.C., R.N.) and Pediatric Neurophysiology (C.G., N.C., S.Q.-R.), and Reference Center for Rare Epilepsies (N.C., C.C., O.D., R.N.), Necker Enfants Malades Hospital, APHP, Paris; INSERM U1129-Infantile Epilepsies and Brain Plasticity (N.C., C.C., O.D., R.N.), Paris; Paris Descartes (N.C., C.C., O.D., R.N.), Sorbonne Paris Cité University; CEA (N.C., C.C., O.D., R.N.), Gif sur Yvette; Department of Pediatric Neurology (S.Q.-R.), Raymond Poincaré Hospital, APHP, Garches; and Paris Descartes University (C.G., I.D., R.N.), France.

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http://dx.doi.org/10.1212/WNL.0000000000002859DOI Listing
July 2016

Skeletal Muscle Microvasculature: A Highly Dynamic Lifeline.

Physiology (Bethesda) 2015 Nov;30(6):417-27

Institut Cochin, INSERM U1016, Paris, France; CNRS 8104, Paris, France; Université Paris Descartes, Paris, France; CGPhyMC, CNRS UMR5534, Villeurbanne, France; and Université Claude Bernard Lyon1, Villeurbanne, France

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http://dx.doi.org/10.1152/physiol.00026.2015DOI Listing
November 2015

Vasculopathy-related clinical and pathological features are associated with severe juvenile dermatomyositis.

Rheumatology (Oxford) 2016 Mar 30;55(3):470-9. Epub 2015 Sep 30.

Department of Pediatric Immunology-Hematology and Rheumatology, Paris-Descartes University, INSERM U 1163, Institut Imagine, AP-HP, Necker Hospital and.

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http://dx.doi.org/10.1093/rheumatology/kev359DOI Listing
March 2016

Mosaic Tetrasomy 9p: A Mendelian Condition Associated With Pediatric-Onset Overlap Myositis.

Pediatrics 2015 Aug;136(2):e544-7

Unité d'Immunologie, Hématologie et Rhumatologie Pédiatriques; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Laboratory of Neurogenetics and Neuroinflammation, Paris, France.

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
Publisher Site
http://dx.doi.org/10.1542/peds.2015-0724DOI Listing
August 2015

Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome.

Clin Neurophysiol 2015 Jul 20;126(7):1435-9. Epub 2014 Oct 20.

Laboratoire de Génétique Médicale, INSERM 1112, Faculté de Médecine, F-67085 Strasbourg, France.

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http://dx.doi.org/10.1016/j.clinph.2014.10.014DOI Listing
July 2015

Hemiconvulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 children.

Dev Med Child Neurol 2013 Dec 8;55(12):1150-8. Epub 2013 Aug 8.

Reference Centre for Rare Epilepsies, Department of Paediatric Neurology, Hôpital Necker-Enfants malades, APHP, Paris, France; Inserm, U663, Paris, France; University Paris Descartes, CEA, Gif sur Yvette, France.

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http://dx.doi.org/10.1111/dmcn.12233DOI Listing
December 2013

Early electro-clinical features may contribute to diagnosis of the anti-NMDA receptor encephalitis in children.

Clin Neurophysiol 2013 Dec 2;124(12):2354-61. Epub 2013 Jul 2.

Service de neurologie pédiatrique et maladies métaboliques, hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Service d'explorations fonctionnelles, laboratoire de neurophysiologie clinique, hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM U1016-CNRS8104-Université Paris-Descartes, Faculté de Médecine, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2013.05.023DOI Listing
December 2013

Pachymeningitis after meningococcal infection.

Lancet 2013 May;381(9877):1596

Department of Paediatrics and Infectious Disease, Necker Hospital, Descartes University, Paris.

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http://dx.doi.org/10.1016/S0140-6736(13)60315-3DOI Listing
May 2013

Whole microvascular unit deletions in dermatomyositis.

Ann Rheum Dis 2013 Mar 8;72(3):445-52. Epub 2012 Sep 8.

Neuropediatry Unit, AP-HP, Necker - Enfants Malades, Hospital, Paris, France.

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http://dx.doi.org/10.1136/annrheumdis-2012-201822DOI Listing
March 2013

Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathy.

J Child Neurol 2013 Jun 12;28(6):787-90. Epub 2012 Jul 12.

Service de Neurologie Pédiatrique et Maladies métaboliques, hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris-Descartes, Paris, France.

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http://journals.sagepub.com/doi/10.1177/0883073812450209
Publisher Site
http://dx.doi.org/10.1177/0883073812450209DOI Listing
June 2013

A cognitive and affective pattern in posterior fossa strokes in children: a case series.

Dev Med Child Neurol 2010 Jul 29;52(7):626-31. Epub 2010 Mar 29.

Paediatric Neurology Department, Hôpital Necker-Enfants Malades, APHP, 149 rue de Sévres, Paris, France.

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http://dx.doi.org/10.1111/j.1469-8749.2010.03616.xDOI Listing
July 2010

Misleading behavioural phenotype with adenylosuccinate lyase deficiency.

Eur J Hum Genet 2009 Jan 1;17(1):133-6. Epub 2008 Oct 1.

Département de Pédiatrie, Hoôpital Necker Enfants Malades, AP-HP, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2008.174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2985950PMC
January 2009