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Items: 21


The role of the neuropediatrician in pediatric intensive care unit: Diagnosis, therapeutics and major participation in collaborative multidisciplinary deliberations about life-sustaining treatments' withdrawal.

Toulouse J, Hully M, Brossier D, Viallard ML, de Saint Blanquat L, Renolleau S, Kossorotoff M, Desguerre I.

Eur J Paediatr Neurol. 2018 Sep 14. pii: S1090-3798(18)30070-9. doi: 10.1016/j.ejpn.2018.09.002. [Epub ahead of print]


PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings.

Gitiaux C, Kaminska A, Boddaert N, Barcia G, Guéden S, The Tich SN, De Lonlay P, Quijano-Roy S, Hully M, Péréon Y, Desguerre I.

Eur J Paediatr Neurol. 2018 Sep;22(5):854-861. doi: 10.1016/j.ejpn.2018.05.005. Epub 2018 May 22.


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

Cavallin M, Maillard C, Hully M, Philbert M, Boddaert N, Reilly ML, Nitschké P, Bery A, Bahi-Buisson N.

Eur J Med Genet. 2018 May 25. pii: S1769-7212(17)30773-5. doi: 10.1016/j.ejmg.2018.05.002. [Epub ahead of print]


Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

Schiff M, Roda C, Monin ML, Arion A, Barth M, Bednarek N, Bidet M, Bloch C, Boddaert N, Borgel D, Brassier A, Brice A, Bruneel A, Buissonnière R, Chabrol B, Chevalier MC, Cormier-Daire V, De Barace C, De Maistre E, De Saint-Martin A, Dorison N, Drouin-Garraud V, Dupré T, Echenne B, Edery P, Feillet F, Fontan I, Francannet C, Labarthe F, Gitiaux C, Héron D, Hully M, Lamoureux S, Martin-Coignard D, Mignot C, Morin G, Pascreau T, Pincemaille O, Polak M, Roubertie A, Thauvin-Robinet C, Toutain A, Viot G, Vuillaumier-Barrot S, Seta N, De Lonlay P.

J Med Genet. 2017 Dec;54(12):843-851. doi: 10.1136/jmedgenet-2017-104903. Epub 2017 Sep 27. Review.


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

Chareyre J, Hully M, Simonnet H, Musset L, Barnerias C, Kossorotoff M, Quijano-Roy S, Desguerre I, Gitiaux C.

Eur J Paediatr Neurol. 2017 Nov;21(6):891-897. doi: 10.1016/j.ejpn.2017.07.005. Epub 2017 Jul 17.


Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ.

Neuropediatrics. 2017 Jun;48(3):166-184. doi: 10.1055/s-0037-1601449. Epub 2017 Apr 10.


Detection of interferon alpha protein reveals differential levels and cellular sources in disease.

Rodero MP, Decalf J, Bondet V, Hunt D, Rice GI, Werneke S, McGlasson SL, Alyanakian MA, Bader-Meunier B, Barnerias C, Bellon N, Belot A, Bodemer C, Briggs TA, Desguerre I, Frémond ML, Hully M, van den Maagdenberg AMJM, Melki I, Meyts I, Musset L, Pelzer N, Quartier P, Terwindt GM, Wardlaw J, Wiseman S, Rieux-Laucat F, Rose Y, Neven B, Hertel C, Hayday A, Albert ML, Rozenberg F, Crow YJ, Duffy D.

J Exp Med. 2017 May 1;214(5):1547-1555. doi: 10.1084/jem.20161451. Epub 2017 Apr 18.


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

Benjumea-Cuartas V, Eisermann M, Simonnet H, Hully M, Nabbout R, Desguerre I, Kaminska A.

Epilepsy Behav Case Rep. 2017 Jan 18;7:42-44. doi: 10.1016/j.ebcr.2016.12.002. eCollection 2017.


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

Hully M, Ropars J, Hubert L, Boddaert N, Rio M, Bernardelli M, Desguerre I, Cormier-Daire V, Munnich A, de Lonlay P, Reilly L, Besmond C, Bahi-Buisson N.

Neurogenetics. 2017 Jan;18(1):23-28. doi: 10.1007/s10048-016-0498-9. Epub 2016 Oct 10.


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

De Liso P, Chemaly N, Laschet J, Barnerias C, Hully M, Leunen D, Desguerre I, Chiron C, Dulac O, Nabbout R.

Epilepsy Res. 2016 Sep;125:42-6. doi: 10.1016/j.eplepsyres.2016.05.012. Epub 2016 May 28.


Motor neuropathy contributes to crouching in patients with Dravet syndrome.

Gitiaux C, Chemaly N, Quijano-Roy S, Barnerias C, Desguerre I, Hully M, Chiron C, Dulac O, Nabbout R.

Neurology. 2016 Jul 19;87(3):277-81. doi: 10.1212/WNL.0000000000002859. Epub 2016 Jun 17.


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

Hully M, Grevent D, Breuillard D, Brunelle F, Chemaly N, Calmon R, Boddaert N, Nabbout R.

Neurology. 2016 May 3;86(18):1744-5. doi: 10.1212/WNL.0000000000002636. No abstract available.


From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

Hully M, Vuillaumier-Barrot S, Le Bizec C, Boddaert N, Kaminska A, Lascelles K, de Lonlay P, Cances C, des Portes V, Roubertie A, Doummar D, LeBihannic A, Degos B, de Saint Martin A, Flori E, Pedespan JM, Goldenberg A, Vanhulle C, Bekri S, Roubergue A, Heron B, Cournelle MA, Kuster A, Chenouard A, Loiseau MN, Valayannopoulos V, Chemaly N, Gitiaux C, Seta N, Bahi-Buisson N.

Eur J Med Genet. 2015 Sep;58(9):443-54. doi: 10.1016/j.ejmg.2015.06.007. Epub 2015 Jul 17.


Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome.

Gitiaux C, Blin-Rochemaure N, Hully M, Echaniz-Laguna A, Calmels N, Bahi-Buisson N, Desguerre I, Dabaj I, Wehbi S, Quijano-Roy S, Laugel V.

Clin Neurophysiol. 2015 Jul;126(7):1435-9. doi: 10.1016/j.clinph.2014.10.014. Epub 2014 Oct 20.


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

Simonnet H, Laurent-Vannier A, Yuan W, Hully M, Valimahomed S, Bourennane M, Chevignard M.

Child Abuse Negl. 2014 Dec;38(12):1914-22. doi: 10.1016/j.chiabu.2014.06.002. Epub 2014 Jul 17.


The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I; LIS-Tubulinopathies Consortium, Beldjord C, Chelly J.

Brain. 2014 Jun;137(Pt 6):1676-700. doi: 10.1093/brain/awu082.


Mitochondrial disorders and epilepsy.

Desguerre I, Hully M, Rio M, Nabbout R.

Rev Neurol (Paris). 2014 May;170(5):375-80. doi: 10.1016/j.neurol.2014.03.010. Epub 2014 May 5. Review.


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

Gitiaux C, Simonnet H, Eisermann M, Leunen D, Dulac O, Nabbout R, Chevignard M, Honnorat J, Gataullina S, Musset L, Scalais E, Gauthier A, Hully M, Boddaert N, Kuchenbuch M, Desguerre I, Kaminska A.

Clin Neurophysiol. 2013 Dec;124(12):2354-61. doi: 10.1016/j.clinph.2013.05.023. Epub 2013 Jul 2. Erratum in: Clin Neurophysiol. 2014 Jun;125(6):1288.


Right place, right time.

Hully M.

Emerg Nurse. 2013 May;21(2):9. No abstract available.


New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.

Bahi-Buisson N, Souville I, Fourniol FJ, Toussaint A, Moores CA, Houdusse A, Lemaitre JY, Poirier K, Khalaf-Nazzal R, Hully M, Leger PL, Elie C, Boddaert N, Beldjord C, Chelly J, Francis F; SBH-LIS European Consortium.

Brain. 2013 Jan;136(Pt 1):223-44. doi: 10.1093/brain/aws323.


Cerebral vasculitis in severe Kawasaki disease: early detection by magnetic resonance imaging and good outcome after intensive treatment.

Gitiaux C, Kossorotoff M, Bergounioux J, Adjadj E, Lesage F, Boddaert N, Hully M, Brugel D, Desguerre I, Bader-Meunier B.

Dev Med Child Neurol. 2012 Dec;54(12):1160-3. doi: 10.1111/dmcn.12002.

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