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Items: 1 to 50 of 57

1.

Fine scale geographic residence and annual primary production drive body condition of wild immature green turtles (Chelonia mydas) in Martinique Island (Lesser Antilles).

Bonola M, Girondot M, Robin JP, Martin J, Siegwalt F, Jeantet L, Lelong P, Grand C, Chambault P, Etienne D, Gresser J, Hielard G, Arqué A, Régis S, Lecerf N, Frouin C, Lefebvre F, Sutter E, Vedie F, Barnerias C, Thieulle L, Bordes R, Guimera C, Aubert N, Bouaziz M, Pinson A, Flora F, Duru M, Benhalilou A, Murgale C, Maillet T, Andreani L, Campistron G, Sikora M, Rateau F, George F, Eggenspieler J, Woignier T, Allenou JP, Louis-Jean L, Chanteur B, Béranger C, Crillon J, Brador A, Habold C, Le Maho Y, Chevallier D.

Biol Open. 2019 Dec 9;8(12). pii: bio048058. doi: 10.1242/bio.048058.

2.

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Wahbi K, Ben Yaou R, Gandjbakhch E, Anselme F, Gossios T, Lakdawala NK, Stalens C, Sacher F, Babuty D, Trochu JN, Moubarak G, Savvatis K, Porcher R, Laforêt P, Fayssoil A, Marijon E, Stojkovic T, Béhin A, Leonard-Louis S, Sole G, Labombarda F, Richard P, Metay C, Quijano-Roy S, Dabaj I, Klug D, Vantyghem MC, Chevalier P, Ambrosi P, Salort E, Sadoul N, Waintraub X, Chikhaoui K, Mabo P, Combes N, Maury P, Sellal JM, Tedrow UB, Kalman JM, Vohra J, Androulakis AFA, Zeppenfeld K, Thompson T, Barnerias C, Bécane HM, Bieth E, Boccara F, Bonnet D, Bouhour F, Boulé S, Brehin AC, Chapon F, Cintas P, Cuisset JM, Davy JM, De Sandre-Giovannoli A, Demurger F, Desguerre I, Dieterich K, Durigneux J, Echaniz-Laguna A, Eschalier R, Ferreiro A, Ferrer X, Francannet C, Fradin M, Gaborit B, Gay A, Hagège A, Isapof A, Jeru I, Juntas Morales R, Lagrue E, Lamblin N, Lascols O, Laugel V, Lazarus A, Leturcq F, Levy N, Magot A, Manel V, Martins R, Mayer M, Mercier S, Meune C, Michaud M, Minot-Myhié MC, Muchir A, Nadaj-Pakleza A, Péréon Y, Petiot P, Petit F, Praline J, Rollin A, Sabouraud P, Sarret C, Schaeffer S, Taithe F, Tard C, Tiffreau V, Toutain A, Vatier C, Walther-Louvier U, Eymard B, Charron P, Vigouroux C, Bonne G, Kumar S, Elliott P, Duboc D.

Circulation. 2019 Jul 23;140(4):293-302. doi: 10.1161/CIRCULATIONAHA.118.039410. Epub 2019 Jun 3.

PMID:
31155932
3.

Thoracic circumference: A new outcome measure in spinal muscular atrophy type 1?

Ropars J, Barnerias C, Hully M, Chabalier D, Peudenier S, Barzic A, Cros P, Desguerre I.

Neuromuscul Disord. 2019 Jun;29(6):415-421. doi: 10.1016/j.nmd.2019.03.003. Epub 2019 Mar 14.

PMID:
31040038
4.

Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.

Nguyen K, Broucqsault N, Chaix C, Roche S, Robin JD, Vovan C, Gerard L, Mégarbané A, Urtizberea JA, Bellance R, Barnérias C, David A, Eymard B, Fradin M, Manel V, Sacconi S, Tiffreau V, Zagnoli F, Cuisset JM, Salort-Campana E, Attarian S, Bernard R, Lévy N, Magdinier F.

J Med Genet. 2019 Sep;56(9):590-601. doi: 10.1136/jmedgenet-2018-105949. Epub 2019 Apr 22.

PMID:
31010831
5.

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.

Lagrue E, Dogan C, De Antonio M, Audic F, Bach N, Barnerias C, Bellance R, Cances C, Chabrol B, Cuisset JM, Desguerre I, Durigneux J, Espil C, Fradin M, Héron D, Isapof A, Jacquin-Piques A, Journel H, Laroche-Raynaud C, Laugel V, Magot A, Manel V, Mayer M, Péréon Y, Perrier-Boeswillald J, Peudenier S, Quijano-Roy S, Ragot-Mandry S, Richelme C, Rivier F, Sabouraud P, Sarret C, Testard H, Vanhulle C, Walther-Louvier U, Gherardi R, Hamroun D, Bassez G.

Neurology. 2019 Feb 19;92(8):e852-e865. doi: 10.1212/WNL.0000000000006948. Epub 2019 Jan 18.

PMID:
30659139
6.

Connecting paths between juvenile and adult habitats in the Atlantic green turtle using genetics and satellite tracking.

Chambault P, de Thoisy B, Huguin M, Martin J, Bonola M, Etienne D, Gresser J, Hiélard G, Mailles J, Védie F, Barnerias C, Sutter E, Guillemot B, Dumont-Dayot É, Régis S, Lecerf N, Lefebvre F, Frouin C, Aubert N, Guimera C, Bordes R, Thieulle L, Duru M, Bouaziz M, Pinson A, Flora F, Queneherve P, Woignier T, Allenou JP, Cimiterra N, Benhalilou A, Murgale C, Maillet T, Rangon L, Chanteux N, Chanteur B, Béranger C, Le Maho Y, Petit O, Chevallier D.

Ecol Evol. 2018 Dec 11;8(24):12790-12802. doi: 10.1002/ece3.4708. eCollection 2018 Dec.

7.

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

Rice GI, Meyzer C, Bouazza N, Hully M, Boddaert N, Semeraro M, Zeef LAH, Rozenberg F, Bondet V, Duffy D, Llibre A, Baek J, Sambe MN, Henry E, Jolaine V, Barnerias C, Barth M, Belot A, Cances C, Debray FG, Doummar D, Frémond ML, Kitabayashi N, Lepelley A, Levrat V, Melki I, Meyer P, Nougues MC, Renaldo F, Rodero MP, Rodriguez D, Roubertie A, Seabra L, Uggenti C, Abdoul H, Treluyer JM, Desguerre I, Blanche S, Crow YJ.

N Engl J Med. 2018 Dec 6;379(23):2275-7. doi: 10.1056/NEJMc1810983. No abstract available.

8.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.

Genet Med. 2019 Aug;21(8):1897-1898. doi: 10.1038/s41436-018-0327-7.

PMID:
30279470
9.

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.

Genet Med. 2019 Apr;21(4):837-849. doi: 10.1038/s41436-018-0268-1. Epub 2018 Sep 12. Erratum in: Genet Med. 2018 Oct 2;:.

10.

Respiratory insight to congenital muscular dystrophies and congenital myopathies and its relation to clinical trial.

Fauroux B, Amaddeo A, Quijano-Roy S, Barnerias C, Desguerre I, Khirani S.

Neuromuscul Disord. 2018 Sep;28(9):731-740. doi: 10.1016/j.nmd.2018.06.013. Epub 2018 Jul 1. Review.

PMID:
30097248
11.

Pitfalls in molecular diagnosis of Friedreich ataxia.

Barcia G, Rachid M, Magen M, Assouline Z, Koenig M, Funalot B, Barnerias C, Rötig A, Munnich A, Bonnefont JP, Steffann J.

Eur J Med Genet. 2018 Aug;61(8):455-458. doi: 10.1016/j.ejmg.2018.03.004. Epub 2018 Mar 9.

PMID:
29530802
12.

Muscle ischaemia associated with NXP2 autoantibodies: a severe subtype of juvenile dermatomyositis.

Aouizerate J, De Antonio M, Bader-Meunier B, Barnerias C, Bodemer C, Isapof A, Quartier P, Melki I, Charuel JL, Bassez G, Desguerre I, Gherardi RK, Authier FJ, Gitiaux C.

Rheumatology (Oxford). 2018 May 1;57(5):873-879. doi: 10.1093/rheumatology/kex516.

PMID:
29474663
13.

Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.

Kuster A, Arnoux JB, Barth M, Lamireau D, Houcinat N, Goizet C, Doray B, Gobin S, Schiff M, Cano A, Amsallem D, Barnerias C, Chaumette B, Plaze M, Slama A, Ioos C, Desguerre I, Lebre AS, de Lonlay P, Christa L; Individual contributors who contributed to this work.

J Inherit Metab Dis. 2018 Jan;41(1):129-139. doi: 10.1007/s10545-017-0079-6. Epub 2017 Sep 18.

PMID:
28924877
14.

Clinical features and evolution of juvenile myasthenia gravis in a French cohort.

Barraud C, Desguerre I, Barnerias C, Gitiaux C, Boulay C, Chabrol B.

Muscle Nerve. 2018 Apr;57(4):603-609. doi: 10.1002/mus.25965. Epub 2017 Oct 11.

PMID:
28877546
15.

Sleep in infants with congenital myasthenic syndromes.

Caggiano S, Khirani S, Verrillo E, Barnerias C, Amaddeo A, Gitiaux C, Thierry B, Desguerre I, Cutrera R, Fauroux B.

Eur J Paediatr Neurol. 2017 Nov;21(6):842-851. doi: 10.1016/j.ejpn.2017.07.010. Epub 2017 Jul 21.

PMID:
28755803
16.

Acute axonal neuropathy subtype of Guillain Barré syndrome in a French pediatric series: Adequate follow-up may require repetitive electrophysiological studies.

Chareyre J, Hully M, Simonnet H, Musset L, Barnerias C, Kossorotoff M, Quijano-Roy S, Desguerre I, Gitiaux C.

Eur J Paediatr Neurol. 2017 Nov;21(6):891-897. doi: 10.1016/j.ejpn.2017.07.005. Epub 2017 Jul 17.

PMID:
28754297
17.

Detection of interferon alpha protein reveals differential levels and cellular sources in disease.

Rodero MP, Decalf J, Bondet V, Hunt D, Rice GI, Werneke S, McGlasson SL, Alyanakian MA, Bader-Meunier B, Barnerias C, Bellon N, Belot A, Bodemer C, Briggs TA, Desguerre I, Frémond ML, Hully M, van den Maagdenberg AMJM, Melki I, Meyts I, Musset L, Pelzer N, Quartier P, Terwindt GM, Wardlaw J, Wiseman S, Rieux-Laucat F, Rose Y, Neven B, Hertel C, Hayday A, Albert ML, Rozenberg F, Crow YJ, Duffy D.

J Exp Med. 2017 May 1;214(5):1547-1555. doi: 10.1084/jem.20161451. Epub 2017 Apr 18.

18.

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.

19.

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle.

Malfatti E, Barnerias C, Hedberg-Oldfors C, Gitiaux C, Benezit A, Oldfors A, Carlier RY, Quijano-Roy S, Romero NB.

Neuromuscul Disord. 2016 Oct;26(10):681-687. doi: 10.1016/j.nmd.2016.07.005. Epub 2016 Jul 25.

PMID:
27546458
20.

Patients with dravet syndrome in the era of stiripentol: A French cohort cross-sectional study.

De Liso P, Chemaly N, Laschet J, Barnerias C, Hully M, Leunen D, Desguerre I, Chiron C, Dulac O, Nabbout R.

Epilepsy Res. 2016 Sep;125:42-6. doi: 10.1016/j.eplepsyres.2016.05.012. Epub 2016 May 28.

PMID:
27389706
21.

Motor neuropathy contributes to crouching in patients with Dravet syndrome.

Gitiaux C, Chemaly N, Quijano-Roy S, Barnerias C, Desguerre I, Hully M, Chiron C, Dulac O, Nabbout R.

Neurology. 2016 Jul 19;87(3):277-81. doi: 10.1212/WNL.0000000000002859. Epub 2016 Jun 17.

PMID:
27316242
22.

Sleep study as a diagnostic tool for unexplained respiratory failure in infants hospitalized in the PICU.

Griffon L, Amaddeo A, Mortamet G, Barnerias C, Abadie V, Olmo Arroyo J, de Sanctis L, Renolleau S, Fauroux B.

J Crit Care. 2017 Dec;42:317-323. doi: 10.1016/j.jcrc.2016.04.003. Epub 2016 Apr 14.

PMID:
28826082
23.

[Chanarin-Dorfman syndrome in a 7-year-old child: when myophathy and skin involvement are all but one].

Barnérias C, Bassez G, Schischmanoff O.

Med Sci (Paris). 2015 Nov;31 Spec No 3:11-3. doi: 10.1051/medsci/201531s303. Epub 2015 Nov 6. French. No abstract available.

24.

Vasculopathy-related clinical and pathological features are associated with severe juvenile dermatomyositis.

Gitiaux C, De Antonio M, Aouizerate J, Gherardi RK, Guilbert T, Barnerias C, Bodemer C, Brochard-Payet K, Quartier P, Musset L, Chazaud B, Desguerre I, Bader-Meunier B.

Rheumatology (Oxford). 2016 Mar;55(3):470-9. doi: 10.1093/rheumatology/kev359. Epub 2015 Sep 30.

PMID:
26424834
25.

Primary Leptomeningeal Gliomatosis in Children and Adults: A Morphological and Molecular Comparative Study With Literature Review.

Tauziede-Espariat A, Maues de Paula A, Pages M, Laquerriere A, Caietta E, Delpont B, Viennet G, Medeiros de Bustos E, Moulin T, Barnerias C, Vauleon E, Grill J, Chiforeanu D, Vasiljevic A, Varlet P.

Neurosurgery. 2016 Mar;78(3):343-52. doi: 10.1227/NEU.0000000000001028.

PMID:
26397750
26.

Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.

Hankiewicz K, Carlier RY, Lazaro L, Linzoain J, Barnerias C, Gómez-Andrés D, Avila-Smirnow D, Ferreiro A, Estournet B, Guicheney P, Germain DP, Richard P, Bulacio S, Mompoint D, Quijano-Roy S.

Muscle Nerve. 2015 Nov;52(5):728-35. doi: 10.1002/mus.24634. Epub 2015 Sep 14.

PMID:
25808192
27.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, te Water Naude J, Wee Teik K, Thomas MM, Till M, Tonduti D, Valente EM, Van Coster RN, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI.

Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16.

28.

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

Bonneau D, Colin E, Oca F, Ferré M, Chevrollier A, Guéguen N, Desquiret-Dumas V, N'Guyen S, Barth M, Zanlonghi X, Rio M, Desguerre I, Barnerias C, Momtchilova M, Rodriguez D, Slama A, Lenaers G, Procaccio V, Amati-Bonneau P, Reynier P.

Brain. 2014 Oct;137(Pt 10):e301. doi: 10.1093/brain/awu184. Epub 2014 Jul 10. No abstract available.

PMID:
25012220
29.

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C.

Hum Mutat. 2014 Jul;35(7):779-90. doi: 10.1002/humu.22554. Epub 2014 May 1.

30.

[Multicentric study of medical care and practices in spinal muscular atrophy type 1 over two 10-year periods].

Barnérias C, Quijano S, Mayer M, Estournet B, Cuisset JM, Sukno S, Peudenier S, Laroche C, Chabrier S, Sabouraud P, Vuillerot C, Chabrol B, Halbert C, Cancès C, Beze-Beyrie P, Ledivenah A, Viallard ML, Desguerre I.

Arch Pediatr. 2014 Apr;21(4):347-54. doi: 10.1016/j.arcped.2014.01.017. Epub 2014 Mar 12. French.

PMID:
24630620
31.

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.

Soreze Y, Boutron A, Habarou F, Barnerias C, Nonnenmacher L, Delpech H, Mamoune A, Chrétien D, Hubert L, Bole-Feysot C, Nitschke P, Correia I, Sardet C, Boddaert N, Hamel Y, Delahodde A, Ottolenghi C, de Lonlay P.

Orphanet J Rare Dis. 2013 Dec 17;8:192. doi: 10.1186/1750-1172-8-192.

32.

[What a tracheostomy changes in a child with a neuromuscular disease].

Rul B, Quijano-Roy S, Golse A, Beynier D, Estournet B, Desguerre I, Barnerias C, Herve C.

Rech Soins Infirm. 2013 Sep;(114):46-57. French.

PMID:
24236398
33.

Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?

Barcia G, Chemaly N, Gobin S, Milh M, Van Bogaert P, Barnerias C, Kaminska A, Dulac O, Desguerre I, Cormier V, Boddaert N, Nabbout R.

Eur J Med Genet. 2014 Jan;57(1):15-20. doi: 10.1016/j.ejmg.2013.10.006. Epub 2013 Nov 1.

PMID:
24189369
34.

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP, Livingston JH, Lourenco CM, Marques W Jr, Oades P, Peterson P, Rasmussen M, Roubertie A, Schmidt JL, Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt J, Wermenbol V, Whitehouse WP, Soler D, Olivieri I, Orcesi S, Aglan MS, Zaki MS, Abdel-Salam GM, Vanderver A, Kisand K, Rozenberg F, Lebon P, Crow YJ.

Lancet Neurol. 2013 Dec;12(12):1159-69. doi: 10.1016/S1474-4422(13)70258-8. Epub 2013 Oct 30.

35.

A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency.

Barcia G, Barnerias C, Rio M, Siquier-Pernet K, Desguerre I, Colleaux L, Munnich A, Rotig A, Nabbout R.

Eur J Med Genet. 2013 Dec;56(12):683-5. doi: 10.1016/j.ejmg.2013.09.013. Epub 2013 Oct 3.

PMID:
24095819
36.

Hemiconvulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 children.

Barcia G, Desguerre I, Carmona O, Barnerias C, Chemaly N, Gitiaux C, Brunelle F, Dulac O, Boddaert N, Nabbout R.

Dev Med Child Neurol. 2013 Dec;55(12):1150-8. doi: 10.1111/dmcn.12233. Epub 2013 Aug 8.

37.

MFN2, a new gene responsible for mitochondrial DNA depletion.

Renaldo F, Amati-Bonneau P, Slama A, Romana C, Forin V, Doummar D, Barnerias C, Bursztyn J, Mayer M, Khouri N, Billette de Villemeur T, Burglen L, Reynier P, Bernabe Gelot A, Rodriguez D.

Brain. 2012 Aug;135(Pt 8):e223, 1-4; author reply e224, 1-3. doi: 10.1093/brain/aws111. Epub 2012 May 3. No abstract available.

PMID:
22556188
38.

A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.

Assouline Z, Jambou M, Rio M, Bole-Feysot C, de Lonlay P, Barnerias C, Desguerre I, Bonnemains C, Guillermet C, Steffann J, Munnich A, Bonnefont JP, Rötig A, Lebre AS.

Biochim Biophys Acta. 2012 Jun;1822(6):1062-9. doi: 10.1016/j.bbadis.2012.01.013. Epub 2012 Feb 3.

39.

Thrombotic microangiopathy and Purtscher-like retinopathy as a rare presentation of juvenile dermatomyositis.

Bader-Meunier B, Monnet D, Barnerias C, Halphen I, Lambot-Juhan K, Chalumeau M, Costedoat-Chalumeau N, Ribeil JA, Bodemer C, Gherardi R.

Pediatrics. 2012 Mar;129(3):e821-4. doi: 10.1542/peds.2011-0338. Epub 2012 Feb 6.

PMID:
22311994
40.

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

Imbard A, Boutron A, Vequaud C, Zater M, de Lonlay P, de Baulny HO, Barnerias C, Miné M, Marsac C, Saudubray JM, Brivet M.

Mol Genet Metab. 2011 Dec;104(4):507-16. doi: 10.1016/j.ymgme.2011.08.008. Epub 2011 Aug 18.

PMID:
21914562
41.

Safety and efficacy of rituximab in severe juvenile dermatomyositis: results from 9 patients from the French Autoimmunity and Rituximab registry.

Bader-Meunier B, Decaluwe H, Barnerias C, Gherardi R, Quartier P, Faye A, Guigonis V, Pagnier A, Brochard K, Sibilia J, Gottenberg JE, Bodemer C; Club Rhumatismes et Inflammation.

J Rheumatol. 2011 Jul;38(7):1436-40. doi: 10.3899/jrheum.101321. Epub 2011 Jun 15.

PMID:
21677003
42.

Adenoviral infection presenting as an isolated central nervous system disease without detectable viremia in two children after stem cell transplantation.

Frange P, Peffault de Latour R, Arnaud C, Boddaert N, Oualha M, Avettand-Fenoel V, Bernaudin F, Aguilar C, Barnerias C, Leruez-Ville M, Touzot F, Lortholary O, Fischer A, Blanche S.

J Clin Microbiol. 2011 Jun;49(6):2361-4. doi: 10.1128/JCM.00080-11. Epub 2011 Apr 13.

43.

Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.

Poirier K, Saillour Y, Bahi-Buisson N, Jaglin XH, Fallet-Bianco C, Nabbout R, Castelnau-Ptakhine L, Roubertie A, Attie-Bitach T, Desguerre I, Genevieve D, Barnerias C, Keren B, Lebrun N, Boddaert N, Encha-Razavi F, Chelly J.

Hum Mol Genet. 2010 Nov 15;19(22):4462-73. doi: 10.1093/hmg/ddq377. Epub 2010 Sep 9.

44.

Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.

Dupré T, Vuillaumier-Barrot S, Chantret I, Sadou Yayé H, Le Bizec C, Afenjar A, Altuzarra C, Barnérias C, Burglen L, de Lonlay P, Feillet F, Napuri S, Seta N, Moore SE.

J Med Genet. 2010 Nov;47(11):729-35. doi: 10.1136/jmg.2009.072504. Epub 2010 Aug 2. Erratum in: J Med Genet. 2015 Mar;52(3):216. Yayé, H S [corrected to Sadou Yayé, H].

45.

A cognitive and affective pattern in posterior fossa strokes in children: a case series.

Kossorotoff M, Gonin-Flambois C, Gitiaux C, Quijano S, Boddaert N, Bahi-Buisson N, Barnerias C, Dulac O, Brunelle F, Desguerre I.

Dev Med Child Neurol. 2010 Jul;52(7):626-31. doi: 10.1111/j.1469-8749.2010.03616.x. Epub 2010 Mar 29.

46.

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.

Barnerias C, Saudubray JM, Touati G, De Lonlay P, Dulac O, Ponsot G, Marsac C, Brivet M, Desguerre I.

Dev Med Child Neurol. 2010 Feb;52(2):e1-9. doi: 10.1111/j.1469-8749.2009.03541.x. Epub 2009 Dec 1.

47.

[Peripheral neuropathy as a presentation of metabolic disorders in childhood].

Desguerre I, Barnerias C, Valayannopoulos V.

Rev Neurol (Paris). 2007 Dec;163(12):1256-9. doi: 10.1016/S0035-3787(07)78415-1. Review. French. No abstract available.

PMID:
18355478
48.

Unusual magnetic resonance imaging features in Menkes disease.

Barnerias C, Boddaert N, Guiraud P, Desguerre I, Hertz Pannier L, Dulac O, de Lonlay P, Bahi Buisson N.

Brain Dev. 2008 Aug;30(7):489-92. doi: 10.1016/j.braindev.2007.12.014. Epub 2008 Feb 19. Erratum in: Brain Dev. 2009 Mar;31(3):252. Pascale, Guiraud [corrected to Guiraud, Pascale]; Isabelle, Desguerre [corrected to Desguerre, Isabelle].

PMID:
18243619
49.

Peripheral neuropathy and inborn errors of metabolism in adults.

Sedel F, Barnerias C, Dubourg O, Desguerres I, Lyon-Caen O, Saudubray JM.

J Inherit Metab Dis. 2007 Oct;30(5):642-53. Epub 2007 Sep 21. Review.

PMID:
17879144
50.

Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families.

Passemard S, Gelot A, Fogli A, N'Guyen S, Barnerias C, Niel F, Doummar D, Arbues AS, Mignot C, de Villemeur TB, Ponsot G, Boespflug-Tanguy O, Rodriguez D.

Neurology. 2007 Jul 24;69(4):400-2. No abstract available.

PMID:
17646634

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