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Items: 1 to 50 of 175

1.

Conditional switching of KIF2A mutation provides new insights into cortical malformations pathogeny.

Gilet J, Ivanova E, Trofimova D, Rudolf G, Meziane H, Broix L, Drouot N, Courraud J, Skory V, Voulleminot P, Osipenko M, Bahi-Buisson N, Yalcin B, Birling MC, Hinckelmann MV, Kwok BH, Allingham JS, Chelly J.

Hum Mol Genet. 2020 Jan 10. pii: ddz316. doi: 10.1093/hmg/ddz316. [Epub ahead of print]

PMID:
31919497
2.

Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.

Barcia G, Chemaly N, Kuchenbuch M, Eisermann M, Gobin-Limballe S, Ciorna V, Macaya A, Lambert L, Dubois F, Doummar D, Billette de Villemeur T, Villeneuve N, Barthez MA, Nava C, Boddaert N, Kaminska A, Bahi-Buisson N, Milh M, Auvin S, Bonnefont JP, Nabbout R.

Neurol Genet. 2019 Oct 25;5(6):e363. doi: 10.1212/NXG.0000000000000363. eCollection 2019 Dec.

3.

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.

Vandervore LV, Schot R, Milanese C, Smits DJ, Kasteleijn E, Fry AE, Pilz DT, Brock S, Börklü-Yücel E, Post M, Bahi-Buisson N, Sánchez-Soler MJ, van Slegtenhorst M, Keren B, Afenjar A, Coury SA, Tan WH, Oegema R, de Vries LS, Fawcett KA, Nikkels PGJ, Bertoli-Avella A, Al Hashem A, Alwabel AA, Tlili-Graiess K, Efthymiou S, Zafar F, Rana N, Bibi F, Houlden H, Maroofian R, Person RE, Crunk A, Savatt JM, Turner L, Doosti M, Karimiani EG, Saadi NW, Akhondian J, Lequin MH, Kayserili H, van der Spek PJ, Jansen AC, Kros JM, Verdijk RM, Milošević NJ, Fornerod M, Mastroberardino PG, Mancini GMS.

Am J Hum Genet. 2019 Dec 5;105(6):1126-1147. doi: 10.1016/j.ajhg.2019.10.009. Epub 2019 Nov 14.

PMID:
31735293
4.

EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.

Oegema R, McGillivray G, Leventer R, Le Moing AG, Bahi-Buisson N, Barnicoat A, Mandelstam S, Francis D, Francis F, Mancini GMS, Savelberg S, van Haaften G, Mankad K, Lequin MH.

Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):627-637. doi: 10.1002/ajmg.c.31751. Epub 2019 Nov 11.

5.

Building Bridges Between the Clinic and the Laboratory: A Meeting Review - Brain Malformations: A Roadmap for Future Research.

Sapir T, Barakat TS, Paredes MF, Lerman-Sagie T, Aronica E, Klonowski W, Nguyen L, Ben Zeev B, Bahi-Buisson N, Leventer R, Rachmian N, Reiner O.

Front Cell Neurosci. 2019 Sep 27;13:434. doi: 10.3389/fncel.2019.00434. eCollection 2019.

6.

KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.

Kuchenbuch M, Barcia G, Chemaly N, Carme E, Roubertie A, Gibaud M, Van Bogaert P, de Saint Martin A, Hirsch E, Dubois F, Sarret C, Nguyen The Tich S, Laroche C, des Portes V, Billette de Villemeur T, Barthez MA, Auvin S, Bahi-Buisson N, Desguerre I, Kaminska A, Benquet P, Nabbout R.

Brain. 2019 Oct 1;142(10):2996-3008. doi: 10.1093/brain/awz240.

PMID:
31532509
7.

Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia.

Uzquiano A, Cifuentes-Diaz C, Jabali A, Romero DM, Houllier A, Dingli F, Maillard C, Boland A, Deleuze JF, Loew D, Mancini GMS, Bahi-Buisson N, Ladewig J, Francis F.

Cell Rep. 2019 Aug 6;28(6):1596-1611.e10. doi: 10.1016/j.celrep.2019.06.096.

8.

Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.

Madeo A, Di Rocco M, Brassier A, Bahi-Buisson N, De Lonlay P, Ceballos-Picot I.

Mol Genet Metab. 2019 Jun;127(2):147-157. doi: 10.1016/j.ymgme.2019.06.001. Epub 2019 Jun 3.

PMID:
31182398
9.

Analysis of the Phenotypes in the Rett Networked Database.

Frullanti E, Papa FT, Grillo E, Clarke A, Ben-Zeev B, Pineda M, Bahi-Buisson N, Bienvenu T, Armstrong J, Roche Martinez A, Mari F, Nissenkorn A, Lo Rizzo C, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Ravn K, Bosnjak VM, Hayek J, Khajuria R, Montomoli B, Cogliati F, Pintaudi M, Hadzsiev K, Craiu D, Voinova V, Djukic A, Villard L, Renieri A.

Int J Genomics. 2019 Mar 27;2019:6956934. doi: 10.1155/2019/6956934. eCollection 2019.

10.

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.

Vandervore LV, Schot R, Kasteleijn E, Oegema R, Stouffs K, Gheldof A, Grochowska MM, van der Sterre MLT, van Unen LMA, Wilke M, Elfferich P, van der Spek PJ, Heijsman D, Grandone A, Demmers JAA, Dekkers DHW, Slotman JA, Kremers GJ, Schaaf GJ, Masius RG, van Essen AJ, Rump P, van Haeringen A, Peeters E, Altunoglu U, Kalayci T, Poot RA, Dobyns WB, Bahi-Buisson N, Verheijen FW, Jansen AC, Mancini GMS.

Brain. 2019 Apr 1;142(4):867-884. doi: 10.1093/brain/awz045. Erratum in: Brain. 2019 Jun 1;142(6):e29.

11.

Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.

Vegas N, Cavallin M, Maillard C, Boddaert N, Toulouse J, Schaefer E, Lerman-Sagie T, Lev D, Magalie B, Moutton S, Haan E, Isidor B, Heron D, Milh M, Rondeau S, Michot C, Valence S, Wagner S, Hully M, Mignot C, Masurel A, Datta A, Odent S, Nizon M, Lazaro L, Vincent M, Cogné B, Guerrot AM, Arpin S, Pedespan JM, Caubel I, Pontier B, Troude B, Rivier F, Philippe C, Bienvenu T, Spitz MA, Bery A, Bahi-Buisson N.

Neurol Genet. 2018 Nov 7;4(6):e281. doi: 10.1212/NXG.0000000000000281. eCollection 2018 Dec.

12.

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.

Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, Lise S, Taylor JC, Terrone G, Vitiello G, Del Giudice E, Brunetti-Pierri N, D'Amico A, Reymond A, Voisin N, Bernstein JA, Farrelly E, Kini U, Leonard TA, Valence S, Burglen L, Armstrong L, Hiatt SM, Cooper GM, Aldinger KA, Dobyns WB, Mirzaa G, Pierson TM, Baas F, Chelly J, Cowan NJ, Keays DA.

Neuron. 2018 Dec 19;100(6):1354-1368.e5. doi: 10.1016/j.neuron.2018.10.044. Epub 2018 Nov 15.

13.

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 Dec;61(12):773-782. doi: 10.1016/j.ejmg.2018.10.015. Epub 2018 Nov 1.

PMID:
30391507
14.

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 Dec;61(12):765-772. doi: 10.1016/j.ejmg.2018.10.004. Epub 2018 Oct 11.

PMID:
30315939
15.

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 Dec;61(12):759-764. doi: 10.1016/j.ejmg.2018.09.012. Epub 2018 Sep 27.

PMID:
30268909
16.

Polysomnographic findings in Rett syndrome.

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

Eur J Paediatr Neurol. 2019 Jan;23(1):214-221. doi: 10.1016/j.ejpn.2018.09.003. Epub 2018 Sep 12.

PMID:
30262236
17.

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 Dec;61(12):755-758. doi: 10.1016/j.ejmg.2018.08.001. Epub 2018 Aug 16.

PMID:
30121372
18.

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
19.

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.

20.

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 Dec;61(12):729-732. doi: 10.1016/j.ejmg.2018.05.002. Epub 2018 May 25.

PMID:
29758293
21.

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
22.

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
23.

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.

24.

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 Mar 1;141(3):698-712. doi: 10.1093/brain/awx358.

25.

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
26.

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.

27.

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
28.

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
29.

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.

30.

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.

31.

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.

32.

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
33.

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.

34.

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
35.

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
36.

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
37.

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
38.

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
39.

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.

40.

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
41.

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
42.

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
43.

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.

44.

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.

45.

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.

46.

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.

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Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

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

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Tubulinopathies Overview.

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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.

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