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Results: 1 to 20 of 105

1.

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.

Fallet-Bianco C, Laquerrière A, Poirier K, Razavi F, Guimiot F, Dias P, Loeuillet L, Lascelles K, Beldjord C, Carion N, Toussaint A, Revencu N, Addor MC, Lhermitte B, Gonzales M, Martinovich J, Bessieres B, Marcy-Bonnière M, Jossic F, Marcorelles P, Loget P, Chelly J, Bahi-Buisson N.

Acta Neuropathol Commun. 2014 Jul 25;2:69. doi: 10.1186/2051-5960-2-69.

PMID:
25059107
[PubMed - in process]
Free Article
2.

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.

PMID:
24860126
[PubMed - indexed for MEDLINE]
3.

Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.

Kielar M, Tuy FP, Bizzotto S, Lebrand C, de Juan Romero C, Poirier K, Oegema R, Mancini GM, Bahi-Buisson N, Olaso R, Le Moing AG, Boutourlinsky K, Boucher D, Carpentier W, Berquin P, Deleuze JF, Belvindrah R, Borrell V, Welker E, Chelly J, Croquelois A, Francis F.

Nat Neurosci. 2014 Jul;17(7):923-33. doi: 10.1038/nn.3729. Epub 2014 May 25.

PMID:
24859200
[PubMed - indexed for MEDLINE]
4.

Somatic mosaicism for a FOXG1 mutation: diagnostic implication.

Diebold B, Délepine C, Nectoux J, Bahi-Buisson N, Parent P, Bienvenu T.

Clin Genet. 2014 Jun;85(6):589-91. doi: 10.1111/cge.12212. Epub 2013 Jun 24. No abstract available.

PMID:
24766421
[PubMed - in process]
5.

Late onset epileptic spasms is frequent in MECP2 gene duplication: electroclinical features and long-term follow-up of 8 epilepsy patients.

Caumes R, Boespflug-Tanguy O, Villeneuve N, Lambert L, Delanoe C, Leheup B, Bahi-Buisson N, Auvin S.

Eur J Paediatr Neurol. 2014 Jul;18(4):475-81. doi: 10.1016/j.ejpn.2014.03.005. Epub 2014 Mar 26.

PMID:
24703762
[PubMed - in process]
6.

Not all myoclonic jerking and tonic posturing in the neonate is epilepsy.

Eisermann M, Lardeux C, Nicloux M, Bahi-Buisson N, Vanbellinghen JF, Magny JF, Kaminska A, Lapillonne A.

J Pediatr. 2014 Mar;164(3):664.e1. doi: 10.1016/j.jpeds.2013.10.073. Epub 2013 Dec 12. No abstract available.

PMID:
24332454
[PubMed - indexed for MEDLINE]
7.

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.

Valence S, Poirier K, Lebrun N, Saillour Y, Sonigo P, Bessières B, Attié-Bitach T, Benachi A, Masson C, Encha-Razavi F, Chelly J, Bahi-Buisson N.

Neurogenetics. 2013 Nov;14(3-4):215-24. doi: 10.1007/s10048-013-0373-x. Epub 2013 Sep 27.

PMID:
24072599
[PubMed - indexed for MEDLINE]
8.

Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.

Brassier A, Boyer O, Valayannopoulos V, Ottolenghi C, Krug P, Cosson MA, Touati G, Arnoux JB, Barbier V, Bahi-Buisson N, Desguerre I, Charbit M, Benoist JF, Dupic L, Aigrain Y, Blanc T, Salomon R, Rabier D, Guest G, de Lonlay P, Niaudet P.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):106-10. doi: 10.1016/j.ymgme.2013.05.001. Epub 2013 May 14.

PMID:
23751327
[PubMed - indexed for MEDLINE]
9.

Diffuse malformations of cortical development.

Bahi-Buisson N, Guerrini R.

Handb Clin Neurol. 2013;111:653-65. doi: 10.1016/B978-0-444-52891-9.00068-3. Review.

PMID:
23622213
[PubMed - indexed for MEDLINE]
10.

Epilepsy in inborn errors of metabolism.

Bahi-Buisson N, Dulac O.

Handb Clin Neurol. 2013;111:533-41. doi: 10.1016/B978-0-444-52891-9.00056-7. Review.

PMID:
23622201
[PubMed - indexed for MEDLINE]
11.

Genetically determined encephalopathy: Rett syndrome.

Bahi-Buisson N.

Handb Clin Neurol. 2013;111:281-6. doi: 10.1016/B978-0-444-52891-9.00031-2. Review.

PMID:
23622176
[PubMed - indexed for MEDLINE]
12.

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Geneviève D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J.

Nat Genet. 2013 Jun;45(6):639-47. doi: 10.1038/ng.2613. Epub 2013 Apr 21. Erratum in: Nat Genet. 2013 Aug;45(8):962.

PMID:
23603762
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiency.

Barth M, Serre V, Hubert L, Chaabouni Y, Bahi-Buisson N, Cadoudal M, Rabier D, Tich SN, Ribeiro M, Ricquier D, Munnich A, Bonneau D, de Lonlay P, Christa L.

JIMD Rep. 2012;3:25-32. doi: 10.1007/8904_2011_43. Epub 2011 Sep 16.

PMID:
23430870
[PubMed]
Free PMC Article
14.

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.

PMID:
23365099
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.

Breuss M, Heng JI, Poirier K, Tian G, Jaglin XH, Qu Z, Braun A, Gstrein T, Ngo L, Haas M, Bahi-Buisson N, Moutard ML, Passemard S, Verloes A, Gressens P, Xie Y, Robson KJ, Rani DS, Thangaraj K, Clausen T, Chelly J, Cowan NJ, Keays DA.

Cell Rep. 2012 Dec 27;2(6):1554-62. doi: 10.1016/j.celrep.2012.11.017. Epub 2012 Dec 13.

PMID:
23246003
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

MeCP2 deficiency is associated with impaired microtubule stability.

Delépine C, Nectoux J, Bahi-Buisson N, Chelly J, Bienvenu T.

FEBS Lett. 2013 Jan 16;587(2):245-53. doi: 10.1016/j.febslet.2012.11.033. Epub 2012 Dec 10.

PMID:
23238081
[PubMed - indexed for MEDLINE]
Free Article
17.

Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations.

Raymond L, Diebold B, Leroux C, Maurey H, Drouin-Garraud V, Delahaye A, Dulac O, Metreau J, Melikishvili G, Toutain A, Rivier F, Bahi-Buisson N, Bienvenu T.

Gene. 2013 Jan 1;512(1):70-5. doi: 10.1016/j.gene.2012.09.056. Epub 2012 Oct 11.

PMID:
23064044
[PubMed - indexed for MEDLINE]
18.

Atypical presentation of neuropsychiatric lupus with acanthosis nigricans.

Miquel J, Hadj-Rabia S, Boddaert N, Lascelles K, Bahi-Buisson N.

Pediatr Neurol. 2012 Oct;47(4):291-4. doi: 10.1016/j.pediatrneurol.2012.06.005.

PMID:
22964444
[PubMed - indexed for MEDLINE]
19.

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.

Poirier K, Saillour Y, Fourniol F, Francis F, Souville I, Valence S, Desguerre I, Marie Lepage J, Boddaert N, Line Jacquemont M, Beldjord C, Chelly J, Bahi-Buisson N.

Eur J Hum Genet. 2013 Apr;21(4):381-5. doi: 10.1038/ejhg.2012.195. Epub 2012 Sep 5.

PMID:
22948023
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Mosaic DCX deletion causes subcortical band heterotopia in males.

Quélin C, Saillour Y, Souville I, Poirier K, N'guyen-Morel MA, Vercueil L, Millisher-Bellaiche AE, Boddaert N, Dubois F, Chelly J, Beldjord C, Bahi-Buisson N.

Neurogenetics. 2012 Nov;13(4):367-73. doi: 10.1007/s10048-012-0339-4. Epub 2012 Jul 26.

PMID:
22833188
[PubMed - indexed for MEDLINE]

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