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Items: 1 to 50 of 165

1.

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
2.

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

Roubertie A, Hieu N, Roux CJ, Leboucq N, Manes G, Charif M, Echenne B, Goizet C, Guissart C, Meyer P, Marelli C, Rivier F, Burglen L, Horvath R, Hamel CP, Lenaers G.

Neurol Genet. 2018 Jan 24;4(1):e217. doi: 10.1212/NXG.0000000000000217. eCollection 2018 Feb.

3.

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

Schiff M, Roda C, Monin ML, Arion A, Barth M, Bednarek N, Bidet M, Bloch C, Boddaert N, Borgel D, Brassier A, Brice A, Bruneel A, Buissonnière R, Chabrol B, Chevalier MC, Cormier-Daire V, De Barace C, De Maistre E, De Saint-Martin A, Dorison N, Drouin-Garraud V, Dupré T, Echenne B, Edery P, Feillet F, Fontan I, Francannet C, Labarthe F, Gitiaux C, Héron D, Hully M, Lamoureux S, Martin-Coignard D, Mignot C, Morin G, Pascreau T, Pincemaille O, Polak M, Roubertie A, Thauvin-Robinet C, Toutain A, Viot G, Vuillaumier-Barrot S, Seta N, De Lonlay P.

J Med Genet. 2017 Dec;54(12):843-851. doi: 10.1136/jmedgenet-2017-104903. Epub 2017 Sep 27. Review.

PMID:
28954837
4.

Insights in Developmental Coordination Disorder.

Farmer M, Echenne B, Drouin R, Bentourkia M.

Curr Pediatr Rev. 2017;13(2):111-119. doi: 10.2174/1573396313666170726113550. Review.

PMID:
28745216
5.

Study of clinical characteristics in young subjects with Developmental coordination disorder.

Farmer M, Echenne B, Bentourkia M.

Brain Dev. 2016 Jun;38(6):538-47. doi: 10.1016/j.braindev.2015.12.010. Epub 2016 Jan 4.

PMID:
26763621
6.

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

Habbout K, Poulin H, Rivier F, Giuliano S, Sternberg D, Fontaine B, Eymard B, Morales RJ, Echenne B, King L, Hanna MG, Männikkö R, Chahine M, Nicole S, Bendahhou S.

Neurology. 2016 Jan 12;86(2):161-9. doi: 10.1212/WNL.0000000000002264. Epub 2015 Dec 11.

7.

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

El Chehadeh S, Faivre L, Mosca-Boidron AL, Malan V, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Callier P, Lefebvre M, Marle N, Dubourg C, Julia S, Sarret C, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Le Caignec C, Vigneron J, Leheup B, Lambert L, Philippe C, Cuisset JM, Andrieux J, Plessis G, Toutain A, Goldenberg A, Cormier-Daire V, Rio M, Bonnefont JP, Thevenon J, Echenne B, Journel H, Afenjar A, Burglen L, Bienvenu T, Addor MC, Lebon S, Martinet D, Baumann C, Perrin L, Drunat S, Jouk PS, Devillard F, Coutton C, Lacombe D, Delrue MA, Philip N, Moncla A, Badens C, Perreton N, Masurel A, Thauvin-Robinet C, Des Portes V, Guibaud L.

Am J Med Genet A. 2016 Jan;170A(1):116-29. doi: 10.1002/ajmg.a.37384. Epub 2015 Sep 30.

PMID:
26420639
8.

Infectious and immunologic phenotype of MECP2 duplication syndrome.

Bauer M, Kölsch U, Krüger R, Unterwalder N, Hameister K, Kaiser FM, Vignoli A, Rossi R, Botella MP, Budisteanu M, Rosello M, Orellana C, Tejada MI, Papuc SM, Patat O, Julia S, Touraine R, Gomes T, Wenner K, Xu X, Afenjar A, Toutain A, Philip N, Jezela-Stanek A, Gortner L, Martinez F, Echenne B, Wahn V, Meisel C, Wieczorek D, El-Chehadeh S, Van Esch H, von Bernuth H.

J Clin Immunol. 2015 Feb;35(2):168-81. doi: 10.1007/s10875-015-0129-5. Epub 2015 Feb 27.

PMID:
25721700
9.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM.

Mol Psychiatry. 2016 Jan;21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3.

10.

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.

Delcourt M, Riant F, Mancini J, Milh M, Navarro V, Roze E, Humbertclaude V, Korff C, Des Portes V, Szepetowski P, Doummar D, Echenne B, Quintin S, Leboucq N, Singh Amrathlal R, Rochette J, Roubertie A.

J Neurol Neurosurg Psychiatry. 2015 Jul;86(7):782-5. doi: 10.1136/jnnp-2014-309025. Epub 2015 Jan 16.

PMID:
25595153
11.

Partial acute transverse myelitis is a predictor of multiple sclerosis in children.

Meyer P, Leboucq N, Molinari N, Roubertie A, Carneiro M, Walther-Louvier U, Cuntz-Shadfar D, Leydet J, Cheminal R, Cambonie G, Echenne B, Rondouin G, Deiva K, Mikaeloff Y, Rivier F.

Mult Scler. 2014 Oct;20(11):1485-93. doi: 10.1177/1352458514526943. Epub 2014 Mar 11.

PMID:
24619933
12.

Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.

Soldovieri MV, Boutry-Kryza N, Milh M, Doummar D, Heron B, Bourel E, Ambrosino P, Miceli F, De Maria M, Dorison N, Auvin S, Echenne B, Oertel J, Riquet A, Lambert L, Gerard M, Roubergue A, Calender A, Mignot C, Taglialatela M, Lesca G.

Hum Mutat. 2014 Mar;35(3):356-67. doi: 10.1002/humu.22500. Epub 2014 Jan 13.

PMID:
24375629
13.

Update on transcobalamin deficiency: clinical presentation, treatment and outcome.

Trakadis YJ, Alfares A, Bodamer OA, Buyukavci M, Christodoulou J, Connor P, Glamuzina E, Gonzalez-Fernandez F, Bibi H, Echenne B, Manoli I, Mitchell J, Nordwall M, Prasad C, Scaglia F, Schiff M, Schrewe B, Touati G, Tchan MC, Varet B, Venditti CP, Zafeiriou D, Rupar CA, Rosenblatt DS, Watkins D, Braverman N.

J Inherit Metab Dis. 2014 May;37(3):461-73. doi: 10.1007/s10545-013-9664-5. Epub 2013 Dec 5.

PMID:
24305960
14.

[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases].

Humbertclaude V, Hamroun D, Picot MC, Bezzou K, Bérard C, Boespflug-Tanguy O, Bommelaer C, Campana-Salort E, Cances C, Chabrol B, Commare MC, Cuisset JM, de Lattre C, Desnuelle C, Echenne B, Halbert C, Jonquet O, Labarre-Vila A, N'guyen-Morel MA, Pages M, Pepin JL, Petitjean T, Pouget J, Ollagnon-Roman E, Richelme C, Rivier F, Sacconi S, Tiffreau V, Vuillerot C, Béroud C, Tuffery-Giraud S, Claustres M.

Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):583-94. doi: 10.1016/j.neurol.2013.04.004. Epub 2013 Aug 14. French.

PMID:
23954141
15.

Congenital and infantile myotonic dystrophy.

Echenne B, Bassez G.

Handb Clin Neurol. 2013;113:1387-93. doi: 10.1016/B978-0-444-59565-2.00009-5. Review.

PMID:
23622362
16.

Acute-onset chorea, dystonia, and cardiac fibroelastoma in a child: a paraneoplastic association?

Bohrer S, De La Villeon G, Carneiro M, Fernandez C, Garbi D, Mace L, Milh M, Guillaumont S, Echenne B, Honnorat J, Roubertie A.

Mov Disord. 2013 Feb;28(2):250-2. doi: 10.1002/mds.25274. Epub 2012 Dec 12. No abstract available.

PMID:
23238994
17.

Lack of progressive arteriopathy and stroke recurrence among children with cryptogenic stroke.

Darteyre S, Chabrier S, Presles E, Bonafé A, Roubertie A, Echenne B, Leboucq N, Rivier F.

Neurology. 2012 Dec 11;79(24):2342-8; discussion 2346. doi: 10.1212/WNL.0b013e318278b629. Epub 2012 Nov 28.

PMID:
23197751
18.

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee WL, Lynch DR, Mohammed S, Müller U, Nespeca MP, Renner D, Rochette J, Rudolf G, Saiki S, Soong BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock AM, Szepetowski P, Fu YH, Ptáček LJ.

Cell Rep. 2012 Jan 26;1(1):2-12. doi: 10.1016/j.celrep.2011.11.001. Epub 2011 Dec 15.

19.

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

Friedman J, Roze E, Abdenur JE, Chang R, Gasperini S, Saletti V, Wali GM, Eiroa H, Neville B, Felice A, Parascandalo R, Zafeiriou DI, Arrabal-Fernandez L, Dill P, Eichler FS, Echenne B, Gutierrez-Solana LG, Hoffmann GF, Hyland K, Kusmierska K, Tijssen MA, Lutz T, Mazzuca M, Penzien J, Poll-The BT, Sykut-Cegielska J, Szymanska K, Thöny B, Blau N.

Ann Neurol. 2012 Apr;71(4):520-30. doi: 10.1002/ana.22685.

PMID:
22522443
20.

MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies.

Lambert L, Bienvenu T, Allou L, Valduga M, Echenne B, Diebold B, Mignot C, Héron D, Roth V, Saunier A, Moustaïne A, Jonveaux P, Philippe C.

Clin Genet. 2012 Nov;82(5):499-501. doi: 10.1111/j.1399-0004.2012.01861.x. Epub 2012 Mar 26. No abstract available.

PMID:
22449245
21.

[Genetic syndromes that mimic congenital infections: report of 2 cases].

Thibault M, Leydet J, Tournier-Lasserve E, Crow YJ, Rivier F, Echenne B, Langlois C, Daudet H, Sarda P, Roubertie A.

Arch Pediatr. 2011 Dec;18(12):1297-1301. doi: 10.1016/j.arcped.2011.08.009. Epub 2011 Oct 2. French.

PMID:
21963371
22.

Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials.

Humbertclaude V, Hamroun D, Bezzou K, Bérard C, Boespflug-Tanguy O, Bommelaer C, Campana-Salort E, Cances C, Chabrol B, Commare MC, Cuisset JM, de Lattre C, Desnuelle C, Echenne B, Halbert C, Jonquet O, Labarre-Vila A, N'Guyen-Morel MA, Pages M, Pepin JL, Petitjean T, Pouget J, Ollagnon-Roman E, Richelme C, Rivier F, Sacconi S, Tiffreau V, Vuillerot C, Picot MC, Claustres M, Béroud C, Tuffery-Giraud S.

Eur J Paediatr Neurol. 2012 Mar;16(2):149-60. doi: 10.1016/j.ejpn.2011.07.001. Epub 2011 Sep 15.

PMID:
21920787
23.

Early onset collagen VI myopathies: Genetic and clinical correlations.

Briñas L, Richard P, Quijano-Roy S, Gartioux C, Ledeuil C, Lacène E, Makri S, Ferreiro A, Maugenre S, Topaloglu H, Haliloglu G, Pénisson-Besnier I, Jeannet PY, Merlini L, Navarro C, Toutain A, Chaigne D, Desguerre I, de Die-Smulders C, Dunand M, Echenne B, Eymard B, Kuntzer T, Maincent K, Mayer M, Plessis G, Rivier F, Roelens F, Stojkovic T, Taratuto AL, Lubieniecki F, Monges S, Tranchant C, Viollet L, Romero NB, Estournet B, Guicheney P, Allamand V.

Ann Neurol. 2010 Oct;68(4):511-20. doi: 10.1002/ana.22087.

PMID:
20976770
24.

Benign paroxysmal vertigo of childhood: long-term outcome.

Krams B, Echenne B, Leydet J, Rivier F, Roubertie A.

Cephalalgia. 2011 Mar;31(4):439-43. doi: 10.1177/0333102410382797. Epub 2010 Sep 17.

PMID:
20851837
25.

Type I hyperprolinemia: genotype/phenotype correlations.

Guilmatre A, Legallic S, Steel G, Willis A, Di Rosa G, Goldenberg A, Drouin-Garraud V, Guet A, Mignot C, Des Portes V, Valayannopoulos V, Van Maldergem L, Hoffman JD, Izzi C, Espil-Taris C, Orcesi S, Bonafé L, Le Galloudec E, Maurey H, Ioos C, Afenjar A, Blanchet P, Echenne B, Roubertie A, Frebourg T, Valle D, Campion D.

Hum Mutat. 2010 Aug;31(8):961-5. doi: 10.1002/humu.21296.

PMID:
20524212
26.

[Treatment of childhood dystonia].

Roubertie A, Roze E, Bahi-Buisson N, Payet C, Echenne B, Doummar D.

Arch Pediatr. 2010 May;17(5):540-53. doi: 10.1016/j.arcped.2010.02.016. Epub 2010 Apr 1. Review. French.

PMID:
20362421
27.

Unexpected neurological sequelae following propofol anesthesia in infants: Three case reports.

Meyer P, Langlois C, Soëte S, Leydet J, Echenne B, Rivier F, Bonafé A, Roubertie A.

Brain Dev. 2010 Nov;32(10):872-8. doi: 10.1016/j.braindev.2009.11.011. Epub 2010 Jan 8.

PMID:
20060673
28.

[Acute motor deficit in childhood: diagnosis management].

Roubertie A, Soëte S, Meyer P, Echenne B, Rivier F, Langlois C.

Arch Pediatr. 2010 Mar;17(3):325-32. doi: 10.1016/j.arcped.2009.11.017. Epub 2009 Dec 31. Review. French.

PMID:
20045298
29.

Neurologic aspects of MECP2 gene duplication in male patients.

Echenne B, Roubertie A, Lugtenberg D, Kleefstra T, Hamel BC, Van Bokhoven H, Lacombe D, Philippe C, Jonveaux P, de Brouwer AP.

Pediatr Neurol. 2009 Sep;41(3):187-91. doi: 10.1016/j.pediatrneurol.2009.03.012.

PMID:
19664534
30.

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.

Daoud F, Angeard N, Demerre B, Martie I, Benyaou R, Leturcq F, Cossée M, Deburgrave N, Saillour Y, Tuffery S, Urtizberea A, Toutain A, Echenne B, Frischman M, Mayer M, Desguerre I, Estournet B, Réveillère C, Penisson-Besnier, Cuisset JM, Kaplan JC, Héron D, Rivier F, Chelly J.

Hum Mol Genet. 2009 Oct 15;18(20):3779-94. doi: 10.1093/hmg/ddp320. Epub 2009 Jul 14.

PMID:
19602481
31.

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.

Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O'Rourke D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP.

Eur J Hum Genet. 2009 Apr;17(4):444-53. doi: 10.1038/ejhg.2008.208. Epub 2008 Nov 5. Erratum in: Eur J Hum Genet. 2009 May;17(5):697.

32.

Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family.

Roubertie A, Echenne B, Leydet J, Soete S, Krams B, Rivier F, Riant F, Tournier-Lasserve E.

J Neurol. 2008 Oct;255(10):1600-2. doi: 10.1007/s00415-008-0982-8. Epub 2008 Sep 3. No abstract available.

PMID:
18758887
33.

Monoamine metabolism study in severe, early-onset epilepsy in childhood.

Echenne B, Roubertie A, Leydet J, Rivier F, Hoffmann GF.

Epileptic Disord. 2008 Jun;10(2):130-5. doi: 10.1684/epd.2008.0181.

34.

Parry Romberg syndrome and linear scleroderma en coup de sabre mimicking Rasmussen encephalitis.

Echenne B, Sébire G.

Neurology. 2007 Dec 11;69(24):2274; author reply 2274. No abstract available.

PMID:
18071151
35.

Cerebrospinal fluid analysis in the diagnosis and treatment of arterial ischemic stroke.

Riou EM, Amlie-Lefond C, Echenne B, Farmer M, Sébire G.

Pediatr Neurol. 2008 Jan;38(1):1-9. Review.

PMID:
18054685
36.

Myotonic dystrophy type I in childhood Long-term evolution in patients surviving the neonatal period.

Echenne B, Rideau A, Roubertie A, Sébire G, Rivier F, Lemieux B.

Eur J Paediatr Neurol. 2008 May;12(3):210-23. Epub 2007 Sep 24.

PMID:
17892958
37.

A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome.

Richard P, Gaudon K, Fournier E, Jackson C, Bauché S, Haddad H, Koenig J, Echenne B, Hantaï D, Eymard B.

Neuromuscul Disord. 2007 May;17(5):409-14. Epub 2007 Mar 23.

PMID:
17363247
38.

[Non epileptic paroxysmal movement disorders in childhood].

Roubertie A, Leydet J, Soete S, Rivier F, Cheminal R, Echenne B.

Arch Pediatr. 2007 Feb;14(2):187-93. Epub 2006 Nov 29. French.

PMID:
17137769
39.

Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy.

Echenne B, Roubertie A, Assmann B, Lutz T, Penzien JM, Thöny B, Blau N, Hoffmann GF.

Pediatr Neurol. 2006 Nov;35(5):308-13.

PMID:
17074599
40.

Benefit of glucocorticosteroid in the routine therapy of bacterial meningitis in children.

Sébire G, Cyr C, Echenne B.

Eur J Paediatr Neurol. 2006 Jul;10(4):163-6. Epub 2006 Sep 1. Review.

PMID:
16949844
41.

Partial epilepsy and 47,XXX karyotype: report of four cases.

Roubertie A, Humbertclaude V, Leydet J, Lefort G, Echenne B.

Pediatr Neurol. 2006 Jul;35(1):69-74.

PMID:
16814091
42.

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.

Cossée M, Demeer B, Blanchet P, Echenne B, Singh D, Hagens O, Antin M, Finck S, Vallee L, Dollfus H, Hegde S, Springell K, Thelma BK, Woods G, Kalscheuer V, Mandel JL.

Eur J Hum Genet. 2006 Apr;14(4):418-25.

43.

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.

Tezenas du Montcel S, Clot F, Vidailhet M, Roze E, Damier P, Jedynak CP, Camuzat A, Lagueny A, Vercueil L, Doummar D, Guyant-Maréchal L, Houeto JL, Ponsot G, Thobois S, Cournelle MA, Durr A, Durif F, Echenne B, Hannequin D, Tranchant C, Brice A; French Dystonia Network.

J Med Genet. 2006 May;43(5):394-400. Epub 2005 Oct 14.

44.

[Genetics contribution to the understanding of autism].

Demonceau N, Roubertie A, Cheminal R, Leydet J, Rivier F, Echenne B.

Arch Pediatr. 2005 Oct;12(10):1509-12. Epub 2005 Aug 15. French.

PMID:
16102953
45.

Antiglial cell autoantibodies and childhood epilepsy: a case report.

Roubertie A, Boukhaddaoui H, Sieso V, de Saint-Martin A, Lellouch-Tubiana A, Hirsch E, Echenne B, Valmier J.

Epilepsia. 2005 Aug;46(8):1308-12.

46.

[What can we do when a child is unable to speak?].

Echenne B.

Arch Pediatr. 2005 Jun;12(6):900-1. French. No abstract available.

PMID:
15904844
47.

[Parry-Romberg's syndrome and epilepsy].

Chbicheb M, Gelot A, Rivier F, Roubertie A, Humbertclaude V, Coubes P, Echenne B.

Rev Neurol (Paris). 2005 Jan;161(1):92-7. French.

PMID:
15678008
48.

Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.

Bergametti F, Denier C, Labauge P, Arnoult M, Boetto S, Clanet M, Coubes P, Echenne B, Ibrahim R, Irthum B, Jacquet G, Lonjon M, Moreau JJ, Neau JP, Parker F, Tremoulet M, Tournier-Lasserve E; Société Française de Neurochirurgie.

Am J Hum Genet. 2005 Jan;76(1):42-51. Epub 2004 Nov 12.

49.

Topiramate pharmacokinetics in children with epilepsy aged from 6 months to 4 years.

Mikaeloff Y, Rey E, Soufflet C, d'Athis P, Echenne B, Vallée L, Bouhours P, Grinspan A, Dulac O, Pons G, Chiron C.

Epilepsia. 2004 Nov;45(11):1448-52.

50.

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.

Tuffery-Giraud S, Saquet C, Chambert S, Echenne B, Marie Cuisset J, Rivier F, Cossée M, Philippe C, Monnier N, Bieth E, Recan D, Antoinette Voelckel M, Perelman S, Lambert JC, Malcolm S, Claustres M.

Neuromuscul Disord. 2004 Oct;14(10):650-8.

PMID:
15351422

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