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Items: 25

1.

Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.

Remerand G, Boespflug-Tanguy O, Tonduti D, Touraine R, Rodriguez D, Curie A, Perreton N, Des Portes V, Sarret C; RMLX/AHDS Study Group.

Dev Med Child Neurol. 2019 Aug 13. doi: 10.1111/dmcn.14332. [Epub ahead of print]

PMID:
31410843
2.

Basal ganglia involvement in ARX patients: The reason for ARX patients very specific grasping?

Curie A, Friocourt G, des Portes V, Roy A, Nazir T, Brun A, Cheylus A, Marcorelles P, Retzepi K, Maleki N, Bussy G, Paulignan Y, Reboul A, Ibarrola D, Kong J, Hadjikhani N, Laquerrière A, Gollub RL.

Neuroimage Clin. 2018 Apr 5;19:454-465. doi: 10.1016/j.nicl.2018.04.001. eCollection 2018.

3.

A new mouse model of ARX dup24 recapitulates the patients' behavioral and fine motor alterations.

Dubos A, Meziane H, Iacono G, Curie A, Riet F, Martin C, Loaëc N, Birling MC, Selloum M, Normand E, Pavlovic G, Sorg T, Stunnenberg HG, Chelly J, Humeau Y, Friocourt G, Hérault Y.

Hum Mol Genet. 2018 Jun 15;27(12):2138-2153. doi: 10.1093/hmg/ddy122.

4.

Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.

Berry-Kravis EM, Lindemann L, Jønch AE, Apostol G, Bear MF, Carpenter RL, Crawley JN, Curie A, Des Portes V, Hossain F, Gasparini F, Gomez-Mancilla B, Hessl D, Loth E, Scharf SH, Wang PP, Von Raison F, Hagerman R, Spooren W, Jacquemont S.

Nat Rev Drug Discov. 2018 Apr;17(4):280-299. doi: 10.1038/nrd.2017.221. Epub 2017 Dec 8. Review.

PMID:
29217836
5.

Outcome of isolated agenesis of the corpus callosum: A population-based prospective study.

des Portes V, Rolland A, Velazquez-Dominguez J, Peyric E, Cordier MP, Gaucherand P, Massardier J, Massoud M, Curie A, Pellot AS, Rivier F, Lacalm A, Clément A, Ville D, Guibaud L.

Eur J Paediatr Neurol. 2018 Jan;22(1):82-92. doi: 10.1016/j.ejpn.2017.08.003. Epub 2017 Sep 5.

PMID:
28947381
6.

Certainty of genuine treatment increases drug responses among intellectually disabled patients.

Jensen KB, Kirsch I, Pontén M, Rosén A, Yang K, Gollub RL, des Portes V, Kaptchuk TJ, Curie A.

Neurology. 2017 May 16;88(20):1912-1918. doi: 10.1212/WNL.0000000000003934. Epub 2017 Apr 19.

7.

Asperger syndrome and early-onset schizophrenia associated with a novel MECP2 deleterious missense variant.

Curie A, Lesca G, Bussy G, Manificat S, Arnaud V, Gonzalez S, Revol O, Calender A, Gérard D, des Portes V.

Psychiatr Genet. 2017 Jun;27(3):105-109. doi: 10.1097/YPG.0000000000000165.

PMID:
28230711
8.

A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.

Masurel-Paulet A, Piton A, Chancenotte S, Redin C, Thauvin-Robinet C, Henrenger Y, Minot D, Creppy A, Ruffier-Bourdet M, Thevenon J, Kuentz P, Lehalle D, Curie A, Blanchard G, Ghosn E, Bonnet M, Archimbaud-Devilliers M, Huet F, Perret O, Philip N, Mandel JL, Faivre L.

Am J Med Genet A. 2016 Aug;170(8):2103-10. doi: 10.1002/ajmg.a.37765. Epub 2016 Jun 3.

PMID:
27256868
9.

A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients.

Curie A, Brun A, Cheylus A, Reboul A, Nazir T, Bussy G, Delange K, Paulignan Y, Mercier S, David A, Marignier S, Merle L, de Fréminville B, Prieur F, Till M, Mortemousque I, Toutain A, Bieth E, Touraine R, Sanlaville D, Chelly J, Kong J, Ott D, Kassai B, Hadjikhani N, Gollub RL, des Portes V.

PLoS One. 2016 Feb 26;11(2):e0149717. doi: 10.1371/journal.pone.0149717. eCollection 2016.

10.

Placebo Responses in Genetically Determined Intellectual Disability: A Meta-Analysis.

Curie A, Yang K, Kirsch I, Gollub RL, des Portes V, Kaptchuk TJ, Jensen KB.

PLoS One. 2015 Jul 30;10(7):e0133316. doi: 10.1371/journal.pone.0133316. eCollection 2015.

11.

[Transient ischemic attack: as well a paediatric emergency].

Hubert A, Curie A, Sabatier I, Poulat AL, Carneiro M, Chabrier S.

Presse Med. 2015 Feb;44(2):249-51. doi: 10.1016/j.lpm.2014.06.023. Epub 2014 Dec 30. French. No abstract available.

PMID:
25555829
12.

Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrification.

Germanaud D, Lefèvre J, Fischer C, Bintner M, Curie A, des Portes V, Eliez S, Elmaleh-Bergès M, Lamblin D, Passemard S, Operto G, Schaer M, Verloes A, Toro R, Mangin JF, Hertz-Pannier L.

Neuroimage. 2014 Nov 15;102 Pt 2:317-31. doi: 10.1016/j.neuroimage.2014.07.057. Epub 2014 Aug 6.

PMID:
25107856
13.

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.

Curie A, Nazir T, Brun A, Paulignan Y, Reboul A, Delange K, Cheylus A, Bertrand S, Rochefort F, Bussy G, Marignier S, Lacombe D, Chiron C, Cossée M, Leheup B, Philippe C, Laugel V, De Saint Martin A, Sacco S, Poirier K, Bienvenu T, Souville I, Gilbert-Dussardier B, Bieth E, Kauffmann D, Briot P, de Fréminville B, Prieur F, Till M, Rooryck-Thambo C, Mortemousque I, Bobillier-Chaumont I, Toutain A, Touraine R, Sanlaville D, Chelly J, Freeman S, Kong J, Hadjikhani N, Gollub RL, Roy A, des Portes V.

Orphanet J Rare Dis. 2014 Feb 14;9:25. doi: 10.1186/1750-1172-9-25.

14.

Neural correlates of non-verbal social interactions: a dual-EEG study.

Ménoret M, Varnet L, Fargier R, Cheylus A, Curie A, des Portes V, Nazir TA, Paulignan Y.

Neuropsychologia. 2014 Mar;55:85-97. doi: 10.1016/j.neuropsychologia.2013.10.001. Epub 2013 Oct 21.

PMID:
24157538
15.

Motor resonance facilitates movement execution: an ERP and kinematic study.

Ménoret M, Curie A, des Portes V, Nazir TA, Paulignan Y.

Front Hum Neurosci. 2013 Oct 15;7:646. doi: 10.3389/fnhum.2013.00646. eCollection 2013.

16.

Stroke by carotid artery complete occlusion in Kawasaki disease: case report and review of literature.

Sabatier I, Chabrier S, Brun A, Hees L, Cheylus A, Gollub R, Hadjikhani N, Kong J, des Portes V, Floret D, Curie A.

Pediatr Neurol. 2013 Dec;49(6):469-73. doi: 10.1016/j.pediatrneurol.2013.08.011. Epub 2013 Oct 3. Review.

PMID:
24095647
17.

Syntax at hand: common syntactic structures for actions and language.

Roy AC, Curie A, Nazir T, Paulignan Y, des Portes V, Fourneret P, Deprez V.

PLoS One. 2013 Aug 22;8(8):e72677. doi: 10.1371/journal.pone.0072677. eCollection 2013.

18.

Simultaneous action execution and observation optimise grasping actions.

Ménoret M, Curie A, des Portes V, Nazir TA, Paulignan Y.

Exp Brain Res. 2013 Jun;227(3):407-19. doi: 10.1007/s00221-013-3523-3. Epub 2013 Apr 25.

PMID:
23615976
19.

Implicit procedural learning in fragile X and Down syndrome.

Bussy G, Charrin E, Brun A, Curie A, des Portes V.

J Intellect Disabil Res. 2011 May;55(5):521-8. doi: 10.1111/j.1365-2788.2011.01410.x. Epub 2011 Mar 15.

PMID:
21418366
20.

Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.

Jacquemont S, Curie A, des Portes V, Torrioli MG, Berry-Kravis E, Hagerman RJ, Ramos FJ, Cornish K, He Y, Paulding C, Neri G, Chen F, Hadjikhani N, Martinet D, Meyer J, Beckmann JS, Delange K, Brun A, Bussy G, Gasparini F, Hilse T, Floesser A, Branson J, Bilbe G, Johns D, Gomez-Mancilla B.

Sci Transl Med. 2011 Jan 5;3(64):64ra1. doi: 10.1126/scitranslmed.3001708.

21.

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.

Germanaud D, Rossi M, Bussy G, Gérard D, Hertz-Pannier L, Blanchet P, Dollfus H, Giuliano F, Bennouna-Greene V, Sarda P, Sigaudy S, Curie A, Vincent MC, Touraine R, des Portes V.

Clin Genet. 2011 Mar;79(3):225-35. doi: 10.1111/j.1399-0004.2010.01551.x. Epub 2010 Oct 18.

PMID:
20950397
22.

[Problems posed by genetic diseases, concerning DNA instability disorders: fragile X syndrome].

Lesca G, Curie A, Rousselle C.

Rev Prat. 2010 Feb 20;60(2):243-4. French. No abstract available.

PMID:
20225567
23.

Impairment of cerebello-thalamo-frontal pathway in Rab-GDI mutated patients with pure mental deficiency.

Curie A, Sacco S, Bussy G, de Saint Martin A, Boddaert N, Chanraud S, Meresse I, Chelly J, Zilbovicius M, des Portes V.

Eur J Med Genet. 2009 Jan-Feb;52(1):6-13. doi: 10.1016/j.ejmg.2008.09.003. Epub 2008 Sep 25.

PMID:
18992375
24.

Long-term follow-up in 12 children with pulmonary arteriovenous malformations: confirmation of hereditary hemorrhagic telangiectasia in all cases.

Curie A, Lesca G, Cottin V, Edery P, Bellon G, Faughnan ME, Plauchu H.

J Pediatr. 2007 Sep;151(3):299-306. Epub 2007 Jul 25.

PMID:
17719943
25.

[MRI morphometry, an insight into brain function].

Curie A, Guibaud L, Des Portes V.

Arch Pediatr. 2006 Jun;13(6):674-7. Epub 2006 May 12. French. No abstract available.

PMID:
16697610

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