Publications by authors named "Marie Hully"

27Publications

Thoracic circumference: A new outcome measure in spinal muscular atrophy type 1?

Neuromuscul Disord 2019 06 14;29(6):415-421. Epub 2019 Mar 14.

Hôpital Necker Enfants Malades, APHP, Paris.

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http://dx.doi.org/10.1016/j.nmd.2019.03.003DOI Listing
June 2019

A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.

Am J Med Genet A 2019 07 19;179(7):1304-1309. Epub 2019 Apr 19.

Laboratory of embryology and genetics of malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.61151DOI Listing
July 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

TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly.

Eur J Med Genet 2018 Dec 25;61(12):729-732. Epub 2018 May 25.

Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Pediatric Neurology APHP- Necker Enfants Malades University Hospital, Paris, France; Centre de Référence "Déficiences intellectuelles de causes rares", APHP- Necker Enfants Malades University Hospital, Paris, France; Genetics and development of the cerebral cortex, Institut Imagine, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173077
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http://dx.doi.org/10.1016/j.ejmg.2018.05.002DOI Listing
December 2018

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

Unilateral predominance of abnormal movements: A characteristic feature of the pediatric anti-NMDA receptor encephalitis?

Epilepsy Behav Case Rep 2017 18;7:42-44. Epub 2017 Jan 18.

Department of Clinical Neurophysiology, Necker-Enfants Malades Hospital, APHP, Paris, France; INSERM U1129, Paris, France; Paris Descartes University, Sorbonne Paris Cité; CEA, Gif sur Yvette, France.

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http://dx.doi.org/10.1016/j.ebcr.2016.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5357742PMC
January 2017

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

Neurogenetics 2017 01 10;18(1):23-28. Epub 2016 Oct 10.

Department of Pediatric Neurology, Necker Enfants Malades Hospital, APHP, 149 rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1007/s10048-016-0498-9DOI Listing
January 2017

Patients with dravet syndrome in the era of stiripentol: A French cohort cross-sectional study.

Epilepsy Res 2016 09 28;125:42-6. Epub 2016 May 28.

Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, 149 Rue de Sevres, 75015 Paris, France; Inserm U1129, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France; CEA, Gif Sur Yvette, France; Paris Descartes University, Department of Pediatrics, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2016.05.012DOI Listing
September 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

Arterial spin labeling shows pre-epileptic tuber hyperperfusion in tuberous sclerosis complex.

Neurology 2016 05;86(18):1744-5

From the Departments of Pediatric Neurology (M.H., D.B., N.C., R.N.) and Pediatric Radiology (D.G., F.B., R.C., N.B.), Necker Enfants Malades Hospital, APHP, Paris; Centre National de Référence des Epilepsies Rares de l'Enfant (M.H., D.B., N.C., R.N.); INSERM U1129 (M.H., D.B., N.C., R.N.), Paris; University René Descartes (D.G., F.B., R.C., N.B., R.N.), PRES Sorbonne Paris Cité, Paris; INSERM U1000 (D.G., F.B., R.C., N.B.), Paris; and MR 1163 (D.G., F.B., R.C., N.B., R.N.), Institut Imagine, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000002636DOI Listing
May 2016

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

Parents' behavior in response to infant crying: abusive head trauma education.

Child Abuse Negl 2014 Dec 17;38(12):1914-22. Epub 2014 Jul 17.

Physical Medicine and Rehabilitation Department for Children with Acquired Neurological Injury, Saint Maurice Hospitals, Saint Maurice, France; Sorbonne Universités, UPMC Univ Paris 06, Inserm, CNRS, LIB, F-7013, Paris, France.

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http://dx.doi.org/10.1016/j.chiabu.2014.06.002DOI Listing
December 2014

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