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Items: 14

1.

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.

2.

Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations.

Coton J, Labalme A, Till M, Bussy G, Krifi Papoz S, Lesca G, Heron D, Sanlaville D, Edery P, des Portes V, Rossi M.

Clin Case Rep. 2018 Mar 9;6(5):827-834. doi: 10.1002/ccr3.1450. eCollection 2018 May.

3.

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
4.

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.

5.

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.

6.

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

Lesca G, Moizard MP, Bussy G, Boggio D, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Des Portes V, Labalme A, Sanlaville D, Edery P, Raynaud M, Lespinasse J.

Am J Med Genet A. 2013 Dec;161A(12):3063-71. doi: 10.1002/ajmg.a.36162. Epub 2013 Aug 16.

PMID:
24039113
7.

Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome.

Marignier S, Lesca G, Marguin J, Bussy G, Sanlaville D, des Portes V.

Eur J Med Genet. 2012 Jun;55(6-7):433-6. doi: 10.1016/j.ejmg.2012.03.008. Epub 2012 Mar 28.

PMID:
22510527
8.

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
9.

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.

10.

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
11.

Reactivity to visual signals and the cerebellar vermis: Evidence from a rare case with rhombencephalosynapsis.

Michael GA, Garcia S, Bussy G, Lion-François L, Guibaud L.

Behav Neurosci. 2009 Feb;123(1):86-96. doi: 10.1037/a0013726.

PMID:
19170433
12.

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
13.

High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.

Lion-François L, Cheillan D, Pitelet G, Acquaviva-Bourdain C, Bussy G, Cotton F, Guibaud L, Gérard D, Rivier C, Vianey-Saban C, Jakobs C, Salomons GS, des Portes V.

Neurology. 2006 Nov 14;67(9):1713-4. No abstract available.

PMID:
17101918
14.

[Thermostable antigens of Pseudomonas pseudomallei and of Malleomyces mallei and their characteristics in common].

Fournier J, Bussy G.

Ann Inst Pasteur (Paris). 1967 Jan;112(1):93-104. French. No abstract available.

PMID:
4961924

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