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Items: 1 to 50 of 82

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.

Report of two cases of tocilizumab induced recurrent meningitis or meningoencephalitis.

Richebé P, Bailly F, Mariani LL, Pena PS, Pedespan JM, Fautrel B.

Joint Bone Spine. 2018 Oct;85(5):643-644. doi: 10.1016/j.jbspin.2018.01.002. Epub 2018 Jan 31. No abstract available.

PMID:
29366968
3.

Initial clinical presentation of young children with N-methyl-d-aspartate receptor encephalitis.

Favier M, Joubert B, Picard G, Rogemond V, Thomas L, Rheims S, Bailhache M, Villega F, Pédespan JM, Berzero G, Psimaras D, Antoine JC, Desestret V, Honnorat J.

Eur J Paediatr Neurol. 2018 May;22(3):404-411. doi: 10.1016/j.ejpn.2017.12.014. Epub 2017 Dec 28.

PMID:
29310866
4.

Childhood idiopathic spinal cord infarction: Description of 7 cases and review of the literature.

Bar C, Cheuret E, Bessou P, Pedespan JM.

Brain Dev. 2017 Nov;39(10):818-827. doi: 10.1016/j.braindev.2017.05.009. Epub 2017 May 31. Review.

PMID:
28578817
5.

[Hereditary neuropathy with liability to pressure palsies in childhood: Report of three cases].

Bar C, Villéga F, Espil C, Husson M, Pedespan JM, Rouanet MF.

Arch Pediatr. 2017 Mar;24(3):260-262. doi: 10.1016/j.arcped.2016.12.002. Epub 2017 Jan 26. French.

PMID:
28131554
6.

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
7.

EFFECTS: an expanded access program of everolimus for patients with subependymal giant cell astrocytoma associated with tuberous sclerosis complex.

Fogarasi A, De Waele L, Bartalini G, Jozwiak S, Laforgia N, Verhelst H, Petrak B, Pedespan JM, Witt O, Castellana R, Crippa S, Gislimberti G, Gyorsok Z.

BMC Neurol. 2016 Aug 8;16:126. doi: 10.1186/s12883-016-0658-4.

8.

Catathrenia in a four-year-old boy: a first case report.

Bar C, Pedespan JM, Ghorayeb I.

Sleep Med. 2016 Apr;20:131-3. doi: 10.1016/j.sleep.2015.12.014. Epub 2016 Jan 13. No abstract available.

PMID:
26928180
9.

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.

10.

From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

Hully M, Vuillaumier-Barrot S, Le Bizec C, Boddaert N, Kaminska A, Lascelles K, de Lonlay P, Cances C, des Portes V, Roubertie A, Doummar D, LeBihannic A, Degos B, de Saint Martin A, Flori E, Pedespan JM, Goldenberg A, Vanhulle C, Bekri S, Roubergue A, Heron B, Cournelle MA, Kuster A, Chenouard A, Loiseau MN, Valayannopoulos V, Chemaly N, Gitiaux C, Seta N, Bahi-Buisson N.

Eur J Med Genet. 2015 Sep;58(9):443-54. doi: 10.1016/j.ejmg.2015.06.007. Epub 2015 Jul 17.

PMID:
26193382
11.

Childhood CIDP: Study of 31 patients and comparison between slow and rapid-onset groups.

Cabasson S, Tardieu M, Meunier A, Rouanet-Larriviere MF, Boulay C, Pedespan JM.

Brain Dev. 2015 Nov;37(10):943-51. doi: 10.1016/j.braindev.2015.04.001. Epub 2015 Apr 25.

PMID:
25921353
12.

Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.

Sabourdy F, Mourey L, Le Trionnaire E, Bednarek N, Caillaud C, Chaix Y, Delrue MA, Dusser A, Froissart R, Garnotel R, Guffon N, Megarbane A, Ogier de Baulny H, Pédespan JM, Pichard S, Valayannopoulos V, Verloes A, Levade T.

Orphanet J Rare Dis. 2015 Mar 15;10:31. doi: 10.1186/s13023-015-0244-7.

13.

[Gradenigo syndrome and petrositis in a child].

Favier M, Bessou P, Franco-Vidal V, Pédespan JM.

Arch Pediatr. 2015 Mar;22(3):283-6. doi: 10.1016/j.arcped.2014.11.013. Epub 2014 Dec 15. French.

PMID:
25524289
14.

Continuation rates of levetiracetam in children from the EULEVp cohort study.

Dureau-Pournin C, Pédespan JM, Droz-Perroteau C, Lavernhe G, Mann M, Pollet C, Robinson P, Jové J, Moore N, Fourrier-Réglat A; EULEV study group.

Eur J Paediatr Neurol. 2014 Jan;18(1):19-24. doi: 10.1016/j.ejpn.2013.07.003. Epub 2013 Sep 10.

PMID:
24035600
15.

Children often present with infantile spasms after herpetic encephalitis.

Aznar Laín G, Dellatolas G, Eisermann M, Boddaert N, Chiron C, Bulteau C, Monteiro JP, An I, Pédespan JM, Cancès C, Peudenier S, Barthez MA, Milh M, Dorfmuller G, Héron B, Nabbout R, Grevent D, Dulac O.

Epilepsia. 2013 Sep;54(9):1571-6. doi: 10.1111/epi.12258. Epub 2013 Jul 1.

16.

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.

17.

[Neurological manifestations of an osteoid osteoma located on the femoral neck in an 8-year-old boy].

Cabasson S, Yvert M, Pillet P, Pédespan JM.

Arch Pediatr. 2012 Nov;19(11):1196-9. doi: 10.1016/j.arcped.2012.08.022. Epub 2012 Oct 10. French.

PMID:
23062998
18.

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.

Micol R, Ben Slama L, Suarez F, Le Mignot L, Beauté J, Mahlaoui N, Dubois d'Enghien C, Laugé A, Hall J, Couturier J, Vallée L, Delobel B, Rivier F, Nguyen K, Billette de Villemeur T, Stephan JL, Bordigoni P, Bertrand Y, Aladjidi N, Pedespan JM, Thomas C, Pellier I, Koenig M, Hermine O, Picard C, Moshous D, Neven B, Lanternier F, Blanche S, Tardieu M, Debré M, Fischer A, Stoppa-Lyonnet D; CEREDIH Network Investigators.

J Allergy Clin Immunol. 2011 Aug;128(2):382-9.e1. doi: 10.1016/j.jaci.2011.03.052. Epub 2011 Jun 12.

PMID:
21665257
19.

[Polymorphic expression of epilepsy and cognitive impairment in ring chromosome 20 syndrome].

Villéga F, Ngayap H, Espil-Taris C, Husson M, Rooryck-Thambo C, Arveiler B, Lacombe D, Pédespan JM.

Arch Pediatr. 2011 Apr;18(4):394-6. doi: 10.1016/j.arcped.2010.12.025. French.

PMID:
21397468
20.

Benign nocturnal alternating hemiplegia of childhood: two cases with positive evolution.

Villéga F, Picard F, Espil-Taris C, Husson M, Michel V, Pedespan JM.

Brain Dev. 2011 Jun;33(6):525-9. doi: 10.1016/j.braindev.2010.08.008. Epub 2010 Sep 2.

PMID:
20817433
21.

Age-dependent Mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood.

Abel L, Plancoulaine S, Jouanguy E, Zhang SY, Mahfoufi N, Nicolas N, Sancho-Shimizu V, Alcaïs A, Guo Y, Cardon A, Boucherit S, Obach D, Clozel T, Lorenzo L, Amsallem D, Berquin P, Blanc T, Bost-Bru C, Chabrier S, Chabrol B, Cheuret E, Dulac O, Evrard P, Héron B, Lazaro L, Mancini J, Pedespan JM, Rivier F, Vallée L, Lebon P, Rozenberg F, Casanova JL, Tardieu M.

J Pediatr. 2010 Oct;157(4):623-9, 629.e1. doi: 10.1016/j.jpeds.2010.04.020. Epub 2010 May 31.

PMID:
20553844
22.

Conversion disorder and coexisting nonepileptic seizures in patients with refractory seizures.

Rotge JY, Lambrecq V, Marchal C, Pedespan JM, Burbaud P, Rougier A, Michel V.

Epilepsy Behav. 2009 Oct;16(2):350-2. doi: 10.1016/j.yebeh.2009.07.032. Epub 2009 Aug 22.

PMID:
19703793
23.

[From Guillain-Barré syndrome to chronic inflammatory polyneuropathies in childhood].

Pédespan JM, Meyer-Witte S.

Arch Pediatr. 2009 Jun;16(6):782-3. doi: 10.1016/S0929-693X(09)74152-1. French. No abstract available.

PMID:
19541170
24.

Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome.

Sweney MT, Silver K, Gerard-Blanluet M, Pedespan JM, Renault F, Arzimanoglou A, Schlesinger-Massart M, Lewelt AJ, Reyna SP, Swoboda KJ.

Pediatrics. 2009 Mar;123(3):e534-41. doi: 10.1542/peds.2008-2027.

PMID:
19254988
25.

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.

26.

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.

Vezain M, Saugier-Veber P, Melki J, Toutain A, Bieth E, Husson M, Pedespan JM, Viollet L, Pénisson-Besnier I, Fehrenbach S, Bou J, Frébourg T, Tosi M.

Eur J Hum Genet. 2007 Oct;15(10):1054-62. Epub 2007 Jul 4.

27.

Refractory occipital lobe epilepsy treated by surgery in a child with chronic encephalitis.

Rougier A, Vital A, Michel V, Chateil JF, Husson M, Pedespan JM.

Pediatr Neurosurg. 2007;43(2):130-3.

PMID:
17337926
28.

[Vaccinal status in children with seizures: a retrospective study conducted in the Bordeaux child hospital].

Gitiaux C, Poeyo S, Demazes S, Pedespan L, Pillet P, Husson M, Pedespan JM.

Arch Pediatr. 2006 Aug;13(8):1102-6. Epub 2006 May 11. French.

PMID:
16697162
29.

[Acceptability and tolerance of sodium valproate, a new sustained-action granule formulation, in monotherapy for epileptic children from 3 years old].

Motte J, Pedespan JM, Sevestre M, Chiron C; Groupe AME.

Arch Pediatr. 2005 Oct;12(10):1533-9. Epub 2005 Aug 11. French.

PMID:
16099147
30.

[Woolly adolescent moan and neurological disorders].

Pedespan JM.

Arch Pediatr. 2005 Jun;12(6):808-10. Review. French. No abstract available.

PMID:
15904812
31.

[Angelman syndrome and intracranial aneurysm: fortuitous association or commune genetic predisposition?].

Meyer Witte S, Espil-Taris C, Cenraud C, Le Brun S, Loiseau H, Chateil JF, Lacombe D, Pédespan JM.

Arch Pediatr. 2005 Apr;12(4):431-3. French.

PMID:
15808434
32.

[Hereditary neuralgic amyotrophy: a paediatric and familial presentation of Parsonage-Turner syndrome].

Husson M, Goizet C, Rivera S, Lacombe D, Pedespan JM.

Arch Pediatr. 2004 Nov;11(11):1336-8. French.

PMID:
15519832
33.

[Epilepsy in children and adults. First part: epilepsy in children].

Pedespan JM.

Rev Prat. 2004 May 31;54(10):1109-14. French. No abstract available.

PMID:
15369154
34.

A patient with hydranencephaly and PEHO-like dysmorphic features.

Goizet C, Espil-Taris C, Husson M, Chateil JF, Pedespan JM, Lacombe D.

Ann Genet. 2003 Jan-Mar;46(1):25-8.

PMID:
12818526
35.

Topiramate: efficacy and tolerability in children according to epilepsy syndromes.

Mikaeloff Y, de Saint-Martin A, Mancini J, Peudenier S, Pedespan JM, Vallée L, Motte J, Bourgeois M, Arzimanoglou A, Dulac O, Chiron C.

Epilepsy Res. 2003 Mar;53(3):225-32.

PMID:
12694931
36.

Pulsed dye laser for Sturge-Weber syndrome.

Léauté-Labréze C, Boralevi F, Pedespan JM, Meymat Y, Taïeb A.

Arch Dis Child. 2002 Nov;87(5):434-5.

37.

Association of external auditory canal atresia, vertical talus, and hypertelorism: confirmation of Rasmussen syndrome.

Julia S, Pedespan JM, Boudard P, Barbier R, Gavilan-Cellie I, Chateil JF, Lacombe D.

Am J Med Genet. 2002 Jun 15;110(2):179-81.

PMID:
12116258
38.

[Botulinum toxin in the management of spastic hip adductors in non-ambulatory cerebral palsy children].

Deleplanque B, Lagueny A, Flurin V, Arnaud C, Pedespan JM, Fontan D, Pontallier JR.

Rev Chir Orthop Reparatrice Appar Mot. 2002 May;88(3):279-85. French.

PMID:
12037484
39.

[Neurologic emergencies in the child].

Pedespan JM, Husson M, Defos du Rau C, Roux S.

Rev Prat. 2001 Nov 1;51(17):1903-8. French.

PMID:
11787222
40.

Prenatal diagnosis of schizencephaly by fetal magnetic resonance imaging.

Denis D, Maugey-Laulom B, Carles D, Pedespan JM, Brun M, Chateil JF.

Fetal Diagn Ther. 2001 Nov-Dec;16(6):354-9.

PMID:
11694738
41.

[Multiple sclerosis: pathogenesis and manifestations in children].

Brissaud O, Palin K, Chateil JF, Pedespan JM.

Arch Pediatr. 2001 Sep;8(9):969-78. Review. French.

PMID:
11582940
42.

Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.

Rodriguez D, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G, Pham-Dinh D, Dautigny A, Boespflug-Tanguy O.

Am J Hum Genet. 2001 Nov;69(5):1134-40. Epub 2001 Sep 20. Erratum in: Am J Hum Genet 2001 Dec;69(6):1413.

43.

Interferon-beta treatment in patients with childhood-onset multiple sclerosis.

Mikaeloff Y, Moreau T, Debouverie M, Pelletier J, Lebrun C, Gout O, Pedespan JM, Van Hulle C, Vermersch P, Ponsot G.

J Pediatr. 2001 Sep;139(3):443-6.

PMID:
11562627
44.

X-linked myopathy with excessive autophagy: a clinicopathological study of five new families.

Chabrol B, Figarella-Branger D, Coquet M, Mancini J, Fontan D, Pedespan JM, Francannet C, Pouget J, Beaufrère AM, Pellissier JF.

Neuromuscul Disord. 2001 May;11(4):376-88.

PMID:
11369189
45.

[Cerebellar vermis hypoplasia with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes].

Graber D, Antignac C, Deschenes G, Coulin A, Hermouet Y, Pedespan JM, Fontan D, Ponsot G.

Arch Pediatr. 2001 Feb;8(2):186-90. French.

PMID:
11232461
46.

MRI and clinical differences between optic pathway tumours in children with and without neurofibromatosis.

Chateil JF, Soussotte C, Pédespan JM, Brun M, Le Manh C, Diard F.

Br J Radiol. 2001 Jan;74(877):24-31.

PMID:
11227773
47.

Statistical analysis of mitochondrial pathologies in childhood: identification of deficiencies using principal component analysis.

Letellier T, Durrieu G, Malgat M, Rossignol R, Antoch J, Deshouillers JM, Coquet M, Lacombe D, Netter JC, Pedespan JM, Redonnet-Vernhet I, Mazat JP.

Lab Invest. 2000 Jul;80(7):1019-30.

PMID:
10908147
48.

[Idiopathic epilepsy in the child].

Pedespan JM.

Rev Prat. 1999 Sep 15;49(14):1516-20. French.

PMID:
10887597
49.

A successful pregnancy in a heterozygote for OTC deficiency treated with sodium phenylbutyrate.

Redonnet-Vernhet I, Rouanet F, Pedespan JM, Hocke C, Parrot F.

Neurology. 2000 Feb 22;54(4):1008. No abstract available.

PMID:
10691008
50.

Menkes disease: study of the mitochondrial respiratory chain in three cases.

Pedespan JM, Jouaville LS, Cances C, Letellier T, Malgat M, Guiraud P, Coquet M, Vernhet I, Lacombe D, Mazat JP.

Eur J Paediatr Neurol. 1999;3(4):167-70.

PMID:
10476365

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