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Items: 1 to 50 of 163

1.

Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome.

Deloison B, Sonigo P, Millischer-Bellaiche AE, Quibel T, Cavallin M, Benoist G, Quelin C, Jouk PS, Lev D, Alison M, Baumann C, Beldjord C, Razavi F, Bessières B, Boddaert N, Ville Y, Salomon LJ, Bahi-Buisson N.

Eur J Med Genet. 2018 Nov 1. pii: S1769-7212(17)30771-1. doi: 10.1016/j.ejmg.2018.10.015. [Epub ahead of print]

PMID:
30391507
2.

Further refinement of COL4A1 and COL4A2 related cortical malformations.

Cavallin M, Mine M, Philbert M, Boddaert N, Lepage JM, Coste T, Lopez-Gonzalez V, Sanchez-Soler MJ, Ballesta-Martínez MJ, Remerand G, Pasquier L, Guët A, Chelly J, Lascelles K, Prieto-Morin C, Kossorotoff M, Tournier Lasserve E, Bahi-Buisson N.

Eur J Med Genet. 2018 Oct 11. pii: S1769-7212(17)30844-3. doi: 10.1016/j.ejmg.2018.10.004. [Epub ahead of print]

PMID:
30315939
3.

Mutations in TBR1 gene leads to cortical malformations and intellectual disability.

Vegas N, Cavallin M, Kleefstra T, de Boer L, Philbert M, Maillard C, Boddaert N, Munnich A, Hubert L, Bery A, Besmond C, Bahi-Buisson N.

Eur J Med Genet. 2018 Sep 27. pii: S1769-7212(17)30791-7. doi: 10.1016/j.ejmg.2018.09.012. [Epub ahead of print]

PMID:
30268909
4.

Polysomnographic findings in Rett syndrome.

Amaddeo A, De Sanctis L, Arroyo JO, Khirani S, Bahi-Buisson N, Fauroux B.

Eur J Paediatr Neurol. 2018 Sep 12. pii: S1090-3798(18)30277-0. doi: 10.1016/j.ejpn.2018.09.003. [Epub ahead of print]

PMID:
30262236
5.

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.

Cavallin M, Bery A, Maillard C, Salomon LJ, Bole C, Reilly ML, Nitschké P, Boddaert N, Bahi-Buisson N.

Eur J Med Genet. 2018 Aug 16. pii: S1769-7212(17)30720-6. doi: 10.1016/j.ejmg.2018.08.001. [Epub ahead of print]

PMID:
30121372
6.

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.

Chemin J, Siquier-Pernet K, Nicouleau M, Barcia G, Ahmad A, Medina-Cano D, Hanein S, Altin N, Hubert L, Bole-Feysot C, Fourage C, Nitschké P, Thevenon J, Rio M, Blanc P, Vidal C, Bahi-Buisson N, Desguerre I, Munnich A, Lyonnet S, Boddaert N, Fassi E, Shinawi M, Zimmerman H, Amiel J, Faivre L, Colleaux L, Lory P, Cantagrel V.

Brain. 2018 Jul 1;141(7):1998-2013. doi: 10.1093/brain/awy145.

PMID:
29878067
7.

Next generation phenotyping using narrative reports in a rare disease clinical data warehouse.

Garcelon N, Neuraz A, Salomon R, Bahi-Buisson N, Amiel J, Picard C, Mahlaoui N, Benoit V, Burgun A, Rance B.

Orphanet J Rare Dis. 2018 May 31;13(1):85. doi: 10.1186/s13023-018-0830-6.

8.

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]

PMID:
29758293
9.

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.

Alby C, Boutaud L, Bessières B, Serre V, Rio M, Cormier-Daire V, de Oliveira J, Ichkou A, Mouthon L, Gordon CT, Bonnière M, Mechler C, Nitschke P, Bole C, Lyonnet S, Bahi-Buisson N, Boddaert N, Colleaux L, Roth P, Ville Y, Vekemans M, Encha-Razavi F, Attié-Bitach T, Thomas S.

Am J Med Genet A. 2018 May;176(5):1091-1098. doi: 10.1002/ajmg.a.38684.

PMID:
29681083
10.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Lefebvre M, Thevenon J, Dubourg C, Julia S, Sarret C, Remerand G, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Vigneron J, Leheup B, Lambert L, Philippe C, Béri-Dexheimer M, Cuisset JM, Andrieux J, Plessis G, Toutain A, Guibaud L, Cormier-Daire V, Rio M, Bonnefont JP, Echenne B, Journel H, Burglen L, Chantot-Bastaraud S, Bienvenu T, Baumann C, Perrin L, Drunat S, Jouk PS, Dieterich K, Devillard F, Lacombe D, Philip N, Sigaudy S, Moncla A, Missirian C, Badens C, Perreton N, Thauvin-Robinet C, AChro-Puce R, Pedespan JM, Rooryck C, Goizet C, Vincent-Delorme C, Duban-Bedu B, Bahi-Buisson N, Afenjar A, Maincent K, Héron D, Alessandri JL, Martin-Coignard D, Lesca G, Rossi M, Raynaud M, Callier P, Mosca-Boidron AL, Marle N, Coutton C, Satre V, Caignec CL, Malan V, Romana S, Keren B, Tabet AC, Kremer V, Scheidecker S, Vigouroux A, Lackmy-Port-Lis M, Sanlaville D, Till M, Carneiro M, Gilbert-Dussardier B, Willems M, Van Esch H, Portes VD, El Chehadeh S.

J Med Genet. 2018 Jun;55(6):359-371. doi: 10.1136/jmedgenet-2017-104956. Epub 2018 Apr 4.

PMID:
29618507
11.

Effect of desipramine on patients with breathing disorders in RETT syndrome.

Mancini J, Dubus JC, Jouve E, Roux JC, Franco P, Lagrue E, Castelnau P, Cances C, Chaix Y, Rougeot-Jung C, Cornu C, Desportes V, Vallée L, Bahi-Buisson N, Truillet R, Attolini L, Villard L, Blin O, Micallef J.

Ann Clin Transl Neurol. 2017 Dec 27;5(2):118-127. doi: 10.1002/acn3.468. eCollection 2018 Feb.

12.

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.

Fry AE, Fawcett KA, Zelnik N, Yuan H, Thompson BAN, Shemer-Meiri L, Cushion TD, Mugalaasi H, Sims D, Stoodley N, Chung SK, Rees MI, Patel CV, Brueton LA, Layet V, Giuliano F, Kerr MP, Banne E, Meiner V, Lerman-Sagie T, Helbig KL, Kofman LH, Knight KM, Chen W, Kannan V, Hu C, Kusumoto H, Zhang J, Swanger SA, Shaulsky GH, Mirzaa GM, Muir AM, Mefford HC, Dobyns WB, Mackenzie AB, Mullins JGL, Lemke JR, Bahi-Buisson N, Traynelis SF, Iago HF, Pilz DT.

Brain. 2018 Jan 22. doi: 10.1093/brain/awx358. [Epub ahead of print]

13.

Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.

Broix L, Asselin L, Silva CG, Ivanova EL, Tilly P, Gilet JG, Lebrun N, Jagline H, Muraca G, Saillour Y, Drouot N, Reilly ML, Francis F, Benmerah A, Bahi-Buisson N, Belvindrah R, Nguyen L, Godin JD, Chelly J, Hinckelmann MV.

Hum Mol Genet. 2018 Jan 15;27(2):224-238. doi: 10.1093/hmg/ddx384.

PMID:
29077851
14.

Lower incidence of fracture after IV bisphosphonates in girls with Rett syndrome and severe bone fragility.

Lambert AS, Rothenbuhler A, Charles P, Brailly-Tabard S, Trabado S, Célestin E, Durand E, Fontaine I, Miladi L, Wicart P, Bahi-Buisson N, Linglart A.

PLoS One. 2017 Oct 26;12(10):e0186941. doi: 10.1371/journal.pone.0186941. eCollection 2017.

15.

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.

Cavallin M, Rujano MA, Bednarek N, Medina-Cano D, Bernabe Gelot A, Drunat S, Maillard C, Garfa-Traore M, Bole C, Nitschké P, Beneteau C, Besnard T, Cogné B, Eveillard M, Kuster A, Poirier K, Verloes A, Martinovic J, Bidat L, Rio M, Lyonnet S, Reilly ML, Boddaert N, Jenneson-Liver M, Motte J, Doco-Fenzy M, Chelly J, Attie-Bitach T, Simons M, Cantagrel V, Passemard S, Baffet A, Thomas S, Bahi-Buisson N.

Brain. 2017 Oct 1;140(10):2597-2609. doi: 10.1093/brain/awx218.

PMID:
28969387
16.

Genetics and mechanisms leading to human cortical malformations.

Romero DM, Bahi-Buisson N, Francis F.

Semin Cell Dev Biol. 2018 Apr;76:33-75. doi: 10.1016/j.semcdb.2017.09.031. Epub 2017 Oct 11. Review.

PMID:
28951247
17.

Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack.

Garcelon N, Neuraz A, Benoit V, Salomon R, Kracker S, Suarez F, Bahi-Buisson N, Hadj-Rabia S, Fischer A, Munnich A, Burgun A.

J Biomed Inform. 2017 Sep;73:51-61. doi: 10.1016/j.jbi.2017.07.016. Epub 2017 Jul 25.

18.

Cryo-EM Reveals How Human Cytoplasmic Dynein Is Auto-inhibited and Activated.

Zhang K, Foster HE, Rondelet A, Lacey SE, Bahi-Buisson N, Bird AW, Carter AP.

Cell. 2017 Jun 15;169(7):1303-1314.e18. doi: 10.1016/j.cell.2017.05.025. Epub 2017 Jun 8.

19.

Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency.

Habarou F, Bahi-Buisson N, Lebigot E, Pontoizeau C, Abi-Warde MT, Brassier A, Le Quan Sang KH, Broissand C, Vuillaumier-Barrot S, Roubertie A, Boutron A, Ottolenghi C, de Lonlay P.

JIMD Rep. 2018;38:53-59. doi: 10.1007/8904_2017_30. Epub 2017 May 17.

20.

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.

Laquerriere A, Maillard C, Cavallin M, Chapon F, Marguet F, Molin A, Sigaudy S, Blouet M, Benoist G, Fernandez C, Poirier K, Chelly J, Thomas S, Bahi-Buisson N.

J Neuropathol Exp Neurol. 2017 Mar 1;76(3):195-205. doi: 10.1093/jnen/nlw124.

PMID:
28395088
21.

Epileptic spasms in congenital disorders of glycosylation.

Pereira AG, Bahi-Buisson N, Barnerias C, Boddaert N, Nabbout R, de Lonlay P, Kaminska A, Eisermann M.

Epileptic Disord. 2017 Mar 1;19(1):15-23. doi: 10.1684/epd.2017.0901.

22.

Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.

Vandervore L, Stouffs K, Tanyalçin I, Vanderhasselt T, Roelens F, Holder-Espinasse M, Jørgensen A, Pepin MG, Petit F, Khau Van Kien P, Bahi-Buisson N, Lissens W, Gheldof A, Byers PH, Jansen AC.

J Med Genet. 2017 Jun;54(6):432-440. doi: 10.1136/jmedgenet-2016-104421. Epub 2017 Mar 3.

PMID:
28258187
23.

Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues.

Nabbout R, Andrade DM, Bahi-Buisson N, Cross H, Desquerre I, Dulac O, Granata T, Hirsch E, Navarro V, Ouss L, Pearl PL, Schmidt D, Thiele E, Camfield PR, Camfield CS.

Epilepsy Behav. 2017 Apr;69:161-169. doi: 10.1016/j.yebeh.2016.11.010. Epub 2017 Feb 28. Review.

PMID:
28256379
24.

Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.

Maillard C, Cavallin M, Piquand K, Philbert M, Bault JP, Millischer AE, Moshous D, Rio M, Gitiaux C, Boddaert N, Masson C, Thomas S, Bahi-Buisson N.

Am J Med Genet A. 2017 Mar;173(3):706-711. doi: 10.1002/ajmg.a.38061. Epub 2017 Feb 7.

PMID:
28168853
25.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Kuentz P, St-Onge J, Duffourd Y, Courcet JB, Carmignac V, Jouan T, Sorlin A, Abasq-Thomas C, Albuisson J, Amiel J, Amram D, Arpin S, Attie-Bitach T, Bahi-Buisson N, Barbarot S, Baujat G, Bessis D, Boccara O, Bonnière M, Boute O, Bursztejn AC, Chiaverini C, Cormier-Daire V, Coubes C, Delobel B, Edery P, Chehadeh SE, Francannet C, Geneviève D, Goldenberg A, Haye D, Isidor B, Jacquemont ML, Khau Van Kien P, Lacombe D, Martin L, Martinovic J, Maruani A, Mathieu-Dramard M, Mazereeuw-Hautier J, Michot C, Mignot C, Miquel J, Morice-Picard F, Petit F, Phan A, Rossi M, Touraine R, Verloes A, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Lehalle D, Thevenon J, Thauvin-Robinet C, Hadj-Rabia S, Faivre L, Vabres P, Rivière JB.

Genet Med. 2017 Sep;19(9):989-997. doi: 10.1038/gim.2016.220. Epub 2017 Feb 2.

PMID:
28151489
26.

A novel recurrent LIS1 splice site mutation in classic lissencephaly.

Philbert M, Maillard C, Cavallin M, Goldenberg A, Masson C, Boddaert N, El Morjani A, Steffann J, Chelly J, Gerard X, Bahi-Buisson N.

Am J Med Genet A. 2017 Feb;173(2):561-564. doi: 10.1002/ajmg.a.38041. Epub 2016 Nov 27. No abstract available.

PMID:
27891766
27.

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.

Broix L, Jagline H, Ivanova E, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A; Deciphering Developmental Disorders study, Moïse M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischké P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J.

Nat Genet. 2016 Nov;48(11):1349-1358. doi: 10.1038/ng.3676. Epub 2016 Oct 3.

28.

Recurrent KIF2A mutations are responsible for classic lissencephaly.

Cavallin M, Bijlsma EK, El Morjani A, Moutton S, Peeters EA, Maillard C, Pedespan JM, Guerrot AM, Drouin-Garaud V, Coubes C, Genevieve D, Bole-Feysot C, Fourrage C, Steffann J, Bahi-Buisson N.

Neurogenetics. 2017 Apr;18(2):73-79. doi: 10.1007/s10048-016-0499-8. Epub 2016 Oct 17.

PMID:
27747449
29.

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.

PMID:
27726050
30.

Epileptic Phenotype of Two Siblings with Asparagine Synthesis Deficiency Mimics Neonatal Pyridoxine-Dependent Epilepsy.

Gataullina S, Lauer-Zillhardt J, Kaminska A, Galmiche-Rolland L, Bahi-Buisson N, Pontoizeau C, Ottolenghi C, Dulac O, Fallet-Bianco C.

Neuropediatrics. 2016 Dec;47(6):399-403. Epub 2016 Aug 14.

PMID:
27522229
31.

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

Metodiev MD, Thompson K, Alston CL, Morris AA, He L, Assouline Z, Rio M, Bahi-Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rötig A, Taylor RW.

Am J Hum Genet. 2016 Jul 7;99(1):246. doi: 10.1016/j.ajhg.2016.06.013. No abstract available.

32.

Fetal brain imaging following laser surgery in twin-to-twin surgery.

Stirnemann J, Chalouhi G, Essaoui M, Bahi-Buisson N, Sonigo P, Millischer AE, Lapillonne A, Guigue V, Salomon LJ, Ville Y.

BJOG. 2018 Aug;125(9):1186-1191. doi: 10.1111/1471-0528.14162. Epub 2016 Jun 27.

PMID:
27348600
33.

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.

Megahed H, Nicouleau M, Barcia G, Medina-Cano D, Siquier-Pernet K, Bole-Feysot C, Parisot M, Masson C, Nitschké P, Rio M, Bahi-Buisson N, Desguerre I, Munnich A, Boddaert N, Colleaux L, Cantagrel V.

Orphanet J Rare Dis. 2016 May 4;11(1):57. doi: 10.1186/s13023-016-0436-9.

34.

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

Metodiev MD, Thompson K, Alston CL, Morris AAM, He L, Assouline Z, Rio M, Bahi-Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rötig A, Taylor RW.

Am J Hum Genet. 2016 May 5;98(5):993-1000. doi: 10.1016/j.ajhg.2016.03.010. Epub 2016 Apr 28.

35.

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

Gerber S, Alzayady KJ, Burglen L, Brémond-Gignac D, Marchesin V, Roche O, Rio M, Funalot B, Calmon R, Durr A, Gil-da-Silva-Lopes VL, Ribeiro Bittar MF, Orssaud C, Héron B, Ayoub E, Berquin P, Bahi-Buisson N, Bole C, Masson C, Munnich A, Simons M, Delous M, Dollfus H, Boddaert N, Lyonnet S, Kaplan J, Calvas P, Yule DI, Rozet JM, Fares Taie L.

Am J Hum Genet. 2016 May 5;98(5):971-980. doi: 10.1016/j.ajhg.2016.03.004. Epub 2016 Apr 21.

36.

Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in France.

Chipaux M, Szurhaj W, Vercueil L, Milh M, Villeneuve N, Cances C, Auvin S, Chassagnon S, Napuri S, Allaire C, Derambure P, Marchal C, Caubel I, Ricard-Mousnier B, N'Guyen The Tich S, Pinard JM, Bahi-Buisson N, de Baracé C, Kahane P, Gautier A, Hamelin S, Coste-Zeitoun D, Rosenberg SD, Clerson P, Nabbout R, Kuchenbuch M, Picot MC, Kaminska A; GRENAT Group.

Epilepsia. 2016 May;57(5):757-69. doi: 10.1111/epi.13368. Epub 2016 Apr 1.

37.

Tubulinopathies Overview.

Bahi-Buisson N, Cavallin M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2016 Mar 24.

38.

Epilepsy in young Tsc1(+/-) mice exhibits age-dependent expression that mimics that of human tuberous sclerosis complex.

Gataullina S, Lemaire E, Wendling F, Kaminska A, Watrin F, Riquet A, Ville D, Moutard ML, de Saint Martin A, Napuri S, Pedespan JM, Eisermann M, Bahi-Buisson N, Nabbout R, Chiron C, Dulac O, Huberfeld G.

Epilepsia. 2016 Apr;57(4):648-59. doi: 10.1111/epi.13325. Epub 2016 Feb 13.

39.

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.

Laquerriere A, Gonzales M, Saillour Y, Cavallin M, Joyē N, Quēlin C, Bidat L, Dommergues M, Plessis G, Encha-Razavi F, Chelly J, Bahi-Buisson N, Poirier K.

Eur J Med Genet. 2016 Apr;59(4):249-56. doi: 10.1016/j.ejmg.2015.12.007. Epub 2015 Dec 28.

40.

Erratum. Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations. Diabetes Care 2015;38:2033-2041.

Beltrand J, Elie C, Busiah K, Fournier E, Boddaert N, Bahi-Buisson N, Vera M, Bui-Quoc E, Ingster-Moati I, Berdugo M, Simon A, Gozalo C, Djerada Z, Flechtner I, Treluyer JM, Scharfmann R, Cavé H, Vaivre-Douret L, Polak M; GlidKir Study Group.

Diabetes Care. 2016 Jan;39(1):175. doi: 10.2337/dc16-er01. No abstract available.

PMID:
26696658
41.

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.

Alby C, Malan V, Boutaud L, Marangoni MA, Bessières B, Bonniere M, Ichkou A, Elkhartoufi N, Bahi-Buisson N, Sonigo P, Millischer AE, Thomas S, Ville Y, Vekemans M, Encha-Razavi F, Attié-Bitach T.

Birth Defects Res A Clin Mol Teratol. 2016 Jan;106(1):36-46. doi: 10.1002/bdra.23472. Epub 2015 Dec 14.

PMID:
26663670
42.

Two new cases of serine deficiency disorders treated with l-serine.

Brassier A, Valayannopoulos V, Bahi-Buisson N, Wiame E, Hubert L, Boddaert N, Kaminska A, Habarou F, Desguerre I, Van Schaftingen E, Ottolenghi C, de Lonlay P.

Eur J Paediatr Neurol. 2016 Jan;20(1):53-60. doi: 10.1016/j.ejpn.2015.10.007. Epub 2015 Nov 5.

PMID:
26610677
43.

Severe and Progressive Fetal Ventriculomegaly Leading to the Diagnosis of Periventricular Nodular Heterotopias with Good Outcome.

Fluss J, Pellegrinelli JM, Fokstuen S, Moutard ML, Garel C, Bahi-Buisson N, Bilieux MH, Hanquinet S.

Neuropediatrics. 2016 Jan;47(1):57-60. doi: 10.1055/s-0035-1566447. Epub 2015 Nov 16.

PMID:
26569159
44.

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder.

Philippe A, Craus Y, Rio M, Bahi-Buisson N, Boddaert N, Malan V, Bonnefont JP, Robel L.

BMC Psychiatry. 2015 Oct 21;15:256. doi: 10.1186/s12888-015-0631-6.

45.

Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations.

Beltrand J, Elie C, Busiah K, Fournier E, Boddaert N, Bahi-Buisson N, Vera M, Bui-Quoc E, Ingster-Moati I, Berdugo M, Simon A, Gozalo C, Djerada Z, Flechtner I, Treluyer JM, Scharfmann R, Cavé H, Vaivre-Douret L, Polak M; GlidKir Study Group.

Diabetes Care. 2015 Nov;38(11):2033-41. doi: 10.2337/dc15-0837. Epub 2015 Oct 5. Erratum in: Diabetes Care. 2016 Jan;39(1):175.

PMID:
26438614
46.

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

Zillhardt JL, Poirier K, Broix L, Lebrun N, Elmorjani A, Martinovic J, Saillour Y, Muraca G, Nectoux J, Bessieres B, Fallet-Bianco C, Lyonnet S, Dulac O, Odent S, Rejeb I, Ben Jemaa L, Rivier F, Pinson L, Geneviève D, Musizzano Y, Bigi N, Leboucq N, Giuliano F, Philip N, Vilain C, Van Bogaert P, Maurey H, Beldjord C, Artiguenave F, Boland A, Olaso R, Masson C, Nitschké P, Deleuze JF, Bahi-Buisson N, Chelly J.

Eur J Hum Genet. 2016 Apr;24(4):611-4. doi: 10.1038/ejhg.2015.192. Epub 2015 Sep 23.

47.

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.

Cavallin M, Hubert L, Cantagrel V, Munnich A, Boddaert N, Vincent-Delorme C, Cuvellier JC, Masson C, Besmond C, Bahi-Buisson N.

Neurogenetics. 2016 Jan;17(1):79-82. doi: 10.1007/s10048-015-0459-8. Epub 2015 Sep 19. No abstract available.

PMID:
26384676
48.

From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

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