Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 138

1.

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.

Lemattre C, Imbert-Bouteille M, Gatinois V, Benit P, Sanchez E, Guignard T, Tran Mau-Them F, Haquet E, Rivier F, Carme E, Roubertie A, Boland A, Lechner D, Meyer V, Thevenon J, Duffourd Y, Rivière JB, Deleuze JF, Wells C, Molinari F, Rustin P, Blanchet P, Geneviève D.

Eur J Hum Genet. 2019 Jul 8. doi: 10.1038/s41431-019-0433-2. [Epub ahead of print]

PMID:
31285529
2.

Neurodevelopmental problems of unaccompanied refugee and migrant children: a new challenge for pediatric neurologists.

Fazzi E, Korff C, Bernabe Gelot A, Leroy P, Rivier F, San Antonio-Arce V, Veggiotti P.

Dev Med Child Neurol. 2019 Jun 10. doi: 10.1111/dmcn.14275. [Epub ahead of print] No abstract available.

PMID:
31183863
3.

Autism and developmental disability caused by KCNQ3 gain-of-function variants.

Sands TT, Miceli F, Lesca G, Beck AE, Sadleir LG, Arrington DK, Schönewolf-Greulich B, Moutton S, Lauritano A, Nappi P, Soldovieri MV, Scheffer IE, Mefford HC, Stong N, Heinzen EL, Goldstein DB, Perez AG, Kossoff EH, Stocco A, Sullivan JA, Shashi V, Gerard B, Francannet C, Bisgaard AM, Tümer Z, Willems M, Rivier F, Vitobello A, Thakkar K, Rajan DS, Barkovich AJ, Weckhuysen S, Cooper EC, Taglialatela M, Cilio MR.

Ann Neurol. 2019 Aug;86(2):181-192. doi: 10.1002/ana.25522. Epub 2019 Jun 26.

PMID:
31177578
4.

Phase Contrast MRI Suggests an Internal Carotid Vascular Tone Alteration in Migraines.

Deverdun J, Leboucq N, Pfeuffer J, Rivier F, Bousquet E, Benali A, Le Bars E.

Neuropediatrics. 2019 Aug;50(4):244-247. doi: 10.1055/s-0039-1692215. Epub 2019 Jun 6.

PMID:
31170735
5.

Speckle-Tracking Echocardiography in Children With Duchenne Muscular Dystrophy: A Prospective Multicenter Controlled Cross-Sectional Study.

Amedro P, Vincenti M, De La Villeon G, Lavastre K, Barrea C, Guillaumont S, Bredy C, Gamon L, Meli AC, Cazorla O, Fauconnier J, Meyer P, Rivier F, Adda J, Mura T, Lacampagne A.

J Am Soc Echocardiogr. 2019 Mar;32(3):412-422. doi: 10.1016/j.echo.2018.10.017. Epub 2019 Jan 21.

PMID:
30679141
6.

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
7.

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.

8.

The 2019 version of the gene table of neuromuscular disorders (nuclear genome).

Bonne G, Rivier F, Hamroun D.

Neuromuscul Disord. 2018 Dec;28(12):1031-1063. doi: 10.1016/j.nmd.2018.09.006. Epub 2018 Sep 27. No abstract available.

PMID:
30472062
9.

The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome).

Bonne G, Rivier F, Hamroun D.

Neuromuscul Disord. 2017 Dec;27(12):1152-1183. doi: 10.1016/j.nmd.2017.10.005. Epub 2017 Nov 23. No abstract available.

PMID:
29961566
10.

Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations.

Wallach E, Walther-Louvier U, Espil-Taris C, Rivier F, Baudou E, Cances C.

Arch Pediatr. 2018 Jun 15. pii: S0929-693X(18)30110-6. doi: 10.1016/j.arcped.2018.05.004. [Epub ahead of print]

PMID:
29914754
11.

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.

Zenagui R, Lacourt D, Pegeot H, Yauy K, Juntas Morales R, Theze C, Rivier F, Cances C, Sole G, Renard D, Walther-Louvier U, Ferrer-Monasterio X, Espil C, Arné-Bes MC, Cintas P, Uro-Coste E, Martin Negrier ML, Rigau V, Bieth E, Goizet C, Claustres M, Koenig M, Cossée M.

J Mol Diagn. 2018 Jul;20(4):533-549. doi: 10.1016/j.jmoldx.2018.04.001. Epub 2018 May 21.

PMID:
29792937
12.

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Guissart C, Latypova X, Rollier P, Khan TN, Stamberger H, McWalter K, Cho MT, Kjaergaard S, Weckhuysen S, Lesca G, Besnard T, Õunap K, Schema L, Chiocchetti AG, McDonald M, de Bellescize J, Vincent M, Van Esch H, Sattler S, Forghani I, Thiffault I, Freitag CM, Barbouth DS, Cadieux-Dion M, Willaert R, Guillen Sacoto MJ, Safina NP, Dubourg C, Grote L, Carré W, Saunders C, Pajusalu S, Farrow E, Boland A, Karlowicz DH, Deleuze JF, Wojcik MH, Pressman R, Isidor B, Vogels A, Van Paesschen W, Al-Gazali L, Al Shamsi AM, Claustres M, Pujol A, Sanders SJ, Rivier F, Leboucq N, Cogné B, Sasorith S, Sanlaville D, Retterer K, Odent S, Katsanis N, Bézieau S, Koenig M, Davis EE, Pasquier L, Küry S.

Am J Hum Genet. 2018 May 3;102(5):744-759. doi: 10.1016/j.ajhg.2018.02.021. Epub 2018 Apr 12.

13.

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.

14.

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

Durand CM, Dhers L, Tesson C, Tessa A, Fouillen L, Jacqueré S, Raymond L, Coupry I, Benard G, Darios F, El-Hachimi KH, Astrea G, Rivier F, Banneau G, Pujol C, Lacombe D, Durr A, Babin PJ, Santorelli FM, Pietrancosta N, Boucher JL, Mansuy D, Stevanin G, Goizet C.

Hum Mutat. 2018 Jan;39(1):140-151. doi: 10.1002/humu.23359. Epub 2017 Nov 11.

PMID:
29034544
15.

Corrigendum to "22nd International Congress of the World Muscle Society, Saint Malo, France, 3rd-7th October 2017" [Neuromuscular Disorders 27S2 (2017) S51-S270].

Rendu J, Bosson C, Roux-Buisson N, Chatagnon A, Bankole B, Rivier F, Durigneux J, Monges S, Stojkovic T, Romero N, Marty I, Fauré J.

Neuromuscul Disord. 2017 Nov;27(11):e1. doi: 10.1016/j.nmd.2017.09.014. Epub 2017 Oct 21. No abstract available.

PMID:
29033277
16.

Outcome of isolated agenesis of the corpus callosum: A population-based prospective study.

des Portes V, Rolland A, Velazquez-Dominguez J, Peyric E, Cordier MP, Gaucherand P, Massardier J, Massoud M, Curie A, Pellot AS, Rivier F, Lacalm A, Clément A, Ville D, Guibaud L.

Eur J Paediatr Neurol. 2018 Jan;22(1):82-92. doi: 10.1016/j.ejpn.2017.08.003. Epub 2017 Sep 5.

PMID:
28947381
17.

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ.

Neuropediatrics. 2017 Jun;48(3):166-184. doi: 10.1055/s-0037-1601449. Epub 2017 Apr 10.

18.

[Bilateral facial nerve palsy associated with Epstein-Barr virus infection in a 3-year-old boy].

Grassin M, Rolland A, Leboucq N, Roubertie A, Rivier F, Meyer P.

Arch Pediatr. 2017 Jun;24(6):564-567. doi: 10.1016/j.arcped.2017.03.009. Epub 2017 Apr 14. French.

PMID:
28416425
19.

Deficit in phonological processes: a characteristic of the neuropsychological profile of children with NF1.

Chaix Y, Lauwers-Cancès V, Faure-Marie N, Gentil C, Lelong S, Schweitzer E, Rodriguez D, Iannuzzi S, Kemlin I, Dorison N, Rivier F, Carniero M, Preclaire E, Barbarot S, Lion-François L, Castelnau P.

Child Neuropsychol. 2018 May;24(4):558-574. doi: 10.1080/09297049.2017.1313970. Epub 2017 Apr 10.

PMID:
28393676
20.

Interhypothalamic adhesion and multiple cerebral abnormalities in a 2-year-old boy.

Loubet A, Dargazanli C, Joris Roux C, Rivier F, Menjot de Champfleur N, Leboucq N.

J Neuroradiol. 2017 Feb;44(1):63-64. doi: 10.1016/j.neurad.2016.09.001. Epub 2016 Nov 24. No abstract available.

PMID:
27890452
21.

MACVIA-LR (Fighting Chronic Diseases for Active and Healthy Ageing in Languedoc-Roussillon): A Success Story of the European Innovation Partnership on Active and Healthy Ageing.

Bousquet J, Bourret R, Camuzat T, Augé P, Bringer J, Noguès M, Jonquet O, de la Coussaye JE, Ankri J, Cesari M, Guérin O, Vellas B, Blain H, Arnavielhe S, Avignon A, Combe B, Canovas G, Daien C, Dray G, Dupeyron A, Jeandel C, Laffont I, Laune D, Marion C, Pastor E, Pélissier JY, Galan B, Reynes J, Reuzeau JC, Bedbrook A, Granier S, Adnet PA, Amouyal M, Alomène B, Bernard PL, Berr C, Caimmi D, Claret PG, Costa DJ, Cristol JP, Fesler P, Hève D, Millot-Keurinck J, Morquin D, Ninot G, Picot MC, Raffort N, Roubille F, Sultan A, Touchon J, Attalin V, Azevedo C, Badin M, Bakhti K, Bardy B, Battesti MP, Bobia X, Boegner C, Boichot S, Bonnin HY, Bouly S, Boubakri C, Bourrain JL, Bourrel G, Bouix V, Bruguière V, Cade S, Camu W, Carre V, Cavalli G, Cayla G, Chiron R, Coignard P, Coroian F, Costa P, Cottalorda J, Coulet B, Coupet AL, Courrouy-Michel MC, Courtet P, Cros V, Cuisinier F, Danko M, Dauenhauer P, Dauzat M, David M, Davy JM, Delignières D, Demoly P, Desplan J, Dujols P, Dupeyron G, Engberink O, Enjalbert M, Fattal C, Fernandes J, Fouletier M, Fraisse P, Gabrion P, Gellerat-Rogier M, Gelis A, Genis C, Giraudeau N, Goucham AY, Gouzi F, Gressard F, Gris JC, Guillot B, Guiraud D, Handweiler V, Hayot M, Hérisson C, Heroum C, Hoa D, Jacquemin S, Jaber S, Jakovenko D, Jorgensen C, Kouyoudjian P, Lamoureux R, Landreau L, Lapierre M, Larrey D, Laurent C, Léglise MS, Lemaitre JM, Le Quellec A, Leclercq F, Lehmann S, Lognos B, Lussert CM, Makinson A, Mandrick K, Mares P, Martin-Gousset P, Matheron A, Mathieu G, Meissonnier M, Mercier G, Messner P, Meunier C, Mondain M, Morales R, Morel J, Mottet D, Nérin P, Nicolas P, Nouvel F, Paccard D, Pandraud G, Pasdelou MP, Pasquié JL, Patte K, Perrey S, Pers YM, Portejoie F, Pujol JL, Quantin X, Quéré I, Ramdani S, Ribstein J, Rédini-Martinez I, Richard S, Ritchie K, Riso JP, Rivier F, Robine JM, Rolland C, Royère E, Sablot D, Savy JL, Schifano L, Senesse P, Sicard R, Stephan Y, Strubel D, Tallon G, Tanfin M, Tassery H, Tavares I, Torre K, Tribout V, Uziel A, Van de Perre P, Venail F, Vergne-Richard C, Vergotte G, Vian L, Vialla F, Viart F, Villain M, Viollet E, Ychou M, Mercier J.

J Frailty Aging. 2016;5(4):233-241.

PMID:
27883170
22.

[Congenital neuromuscular diseases with neonatal respiratory failure excluding myotonic dystrophy type 1 and infantile spinal muscular atrophy. Diagnosis strategy according to a 19-child series].

Raignoux J, Walther-Louvier U, Espil C, Berthomieu L, Uro-Coste E, Rivier F, Cances C.

Arch Pediatr. 2016 Sep;23(9):878-86. doi: 10.1016/j.arcped.2016.05.019. Epub 2016 Jun 30. French.

PMID:
27375179
23.

Role of neuroimaging in the diagnosis of hereditary cerebellar ataxias in childhood.

Perucca G, Leboucq N, Roubertie A, Rivier F, Menjot N, Valentini C, Bonafe A.

J Neuroradiol. 2016 Jun;43(3):176-85. doi: 10.1016/j.neurad.2016.03.006. Epub 2016 Apr 25. Review.

PMID:
27126632
24.

Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.

Chassaing N, Ragge N, Plaisancié J, Patat O, Geneviève D, Rivier F, Malrieu-Eliaou C, Hamel C, Kaplan J, Calvas P.

Am J Med Genet A. 2016 Jul;170(7):1895-8. doi: 10.1002/ajmg.a.37667. Epub 2016 Apr 22.

PMID:
27103084
25.

Systematic MRI in NF1 children under six years of age for the diagnosis of optic pathway gliomas. Study and outcome of a French cohort.

Blanchard G, Lafforgue MP, Lion-François L, Kemlin I, Rodriguez D, Castelnau P, Carneiro M, Meyer P, Rivier F, Barbarot S, Chaix Y; NF France network.

Eur J Paediatr Neurol. 2016 Mar;20(2):275-281. doi: 10.1016/j.ejpn.2015.12.002. Epub 2015 Dec 17.

PMID:
26774135
26.

[Central manifestations of dystrophinopathies].

Cuisset JM, Rivier F.

Arch Pediatr. 2015 Dec;22(12 Suppl 1):12S58-62. doi: 10.1016/S0929-693X(16)30010-0. French.

PMID:
26773588
27.

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.

28.

[Living Lab MACVIA. Disability].

Laffont I, Jourdan C, Coroian F, Blain H, Carre V, Viollet E, Tavares I, Fattal C, Gelis A, Nouvel F, Bakhti K, Cros V, Patte K, Schifano L, Porte M, Galano E, Dray G, Fouletier M, Rivier F, Morales R, Labauge P, Camu W, Combe B, Morel J, Froger J, Coulet B, Cottalorda J, Kouyoumdjian P, Jonquet O, Landreau L, Bonnin HY, Hantkié O, Nicolas P, Enjalbert M, Leblond C, Soua B, Coignard P, Guiraud D, Azevedo C, Mottet D, Fraisse P, Pastor E, Mercier J, Bourret R, Bousquet J, Pélissier J, Bardy B, Herisson C, Dupeyron A.

Presse Med. 2015 Nov;44 Suppl 1:S60-9. doi: 10.1016/j.lpm.2015.07.007. Epub 2015 Oct 21. French. No abstract available.

PMID:
26482491
29.

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.

30.

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

Angebault C, Charif M, Guegen N, Piro-Megy C, Mousson de Camaret B, Procaccio V, Guichet PO, Hebrard M, Manes G, Leboucq N, Rivier F, Hamel CP, Lenaers G, Roubertie A.

Hum Mol Genet. 2015 Jul 15;24(14):3948-55. doi: 10.1093/hmg/ddv133. Epub 2015 Apr 21.

PMID:
25901006
31.

[Mitochondrial neurogastrointestinal encephalopathy disease].

Benureau A, Meyer P, Maillet O, Leboucq N, Legras S, Jeziorski E, Fournier-Favre S, Jeandel C, Gaignard P, Slama A, Rivier F, Roubertie A, Carneiro M.

Arch Pediatr. 2014 Dec;21(12):1370-4. doi: 10.1016/j.arcped.2014.08.006. Epub 2014 Oct 2. French.

PMID:
25282463
32.

Bilateral idiopathic calf muscle hypertrophy: an exceptional cause of unsightly leg curvature.

Herlin C, Chaput B, Rivier F, Doucet JC, Bigorre M, Captier G.

Ann Chir Plast Esthet. 2015 Apr;60(2):160-3. doi: 10.1016/j.anplas.2014.08.010. Epub 2014 Sep 16.

PMID:
25236976
33.

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, Pinto D, Howe J, Lemière N, Durand CM, Guibert J, Ey E, Toro R, Peyre H, Mathieu A, Amsellem F, Rastam M, Gillberg IC, Rappold GA, Holt R, Monaco AP, Maestrini E, Galan P, Heron D, Jacquette A, Afenjar A, Rastetter A, Brice A, Devillard F, Assouline B, Laffargue F, Lespinasse J, Chiesa J, Rivier F, Bonneau D, Regnault B, Zelenika D, Delepine M, Lathrop M, Sanlaville D, Schluth-Bolard C, Edery P, Perrin L, Tabet AC, Schmeisser MJ, Boeckers TM, Coleman M, Sato D, Szatmari P, Scherer SW, Rouleau GA, Betancur C, Leboyer M, Gillberg C, Delorme R, Bourgeron T.

PLoS Genet. 2014 Sep 4;10(9):e1004580. doi: 10.1371/journal.pgen.1004580. eCollection 2014 Sep.

34.

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
35.

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J.

Brain. 2013 Dec;136(Pt 12):3634-44. doi: 10.1093/brain/awt283. Epub 2013 Oct 30.

36.

Creatine and guanidinoacetate reference values in a French population.

Joncquel-Chevalier Curt M, Cheillan D, Briand G, Salomons GS, Mention-Mulliez K, Dobbelaere D, Cuisset JM, Lion-François L, Des Portes V, Chabli A, Valayannopoulos V, Benoist JF, Pinard JM, Simard G, Douay O, Deiva K, Tardieu M, Afenjar A, Héron D, Rivier F, Chabrol B, Prieur F, Cartault F, Pitelet G, Goldenberg A, Bekri S, Gerard M, Delorme R, Porchet N, Vianey-Saban C, Vamecq J.

Mol Genet Metab. 2013 Nov;110(3):263-7. doi: 10.1016/j.ymgme.2013.09.005. Epub 2013 Sep 16.

PMID:
24090707
37.

[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
38.

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

Tran Mau-Them F, Willems M, Albrecht B, Sanchez E, Puechberty J, Endele S, Schneider A, Ruiz Pallares N, Missirian C, Rivier F, Girard M, Holder M, Manouvrier S, Touitou I, Lefort G, Sarda P, Moncla A, Drunat S, Wieczorek D, Genevieve D.

Eur J Hum Genet. 2014 Feb;22(2):289-92. doi: 10.1038/ejhg.2013.113. Epub 2013 May 15.

39.

Natural history of Barth syndrome: a national cohort study of 22 patients.

Rigaud C, Lebre AS, Touraine R, Beaupain B, Ottolenghi C, Chabli A, Ansquer H, Ozsahin H, Di Filippo S, De Lonlay P, Borm B, Rivier F, Vaillant MC, Mathieu-Dramard M, Goldenberg A, Viot G, Charron P, Rio M, Bonnet D, Donadieu J.

Orphanet J Rare Dis. 2013 May 8;8:70. doi: 10.1186/1750-1172-8-70.

40.

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.

Cheillan D, Joncquel-Chevalier Curt M, Briand G, Salomons GS, Mention-Mulliez K, Dobbelaere D, Cuisset JM, Lion-François L, Portes VD, Chabli A, Valayannopoulos V, Benoist JF, Pinard JM, Simard G, Douay O, Deiva K, Afenjar A, Héron D, Rivier F, Chabrol B, Prieur F, Cartault F, Pitelet G, Goldenberg A, Bekri S, Gerard M, Delorme R, Tardieu M, Porchet N, Vianey-Saban C, Vamecq J.

Orphanet J Rare Dis. 2012 Dec 13;7:96. doi: 10.1186/1750-1172-7-96.

41.

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
42.

Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations.

Raymond L, Diebold B, Leroux C, Maurey H, Drouin-Garraud V, Delahaye A, Dulac O, Metreau J, Melikishvili G, Toutain A, Rivier F, Bahi-Buisson N, Bienvenu T.

Gene. 2013 Jan 1;512(1):70-5. doi: 10.1016/j.gene.2012.09.056. Epub 2012 Oct 11.

PMID:
23064044
43.

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.

Allou L, Lambert L, Amsallem D, Bieth E, Edery P, Destrée A, Rivier F, Amor D, Thompson E, Nicholl J, Harbord M, Nemos C, Saunier A, Moustaïne A, Vigouroux A, Jonveaux P, Philippe C.

Eur J Hum Genet. 2012 Dec;20(12):1216-23. doi: 10.1038/ejhg.2012.127. Epub 2012 Jun 27.

44.

E2F transcription factor-1 deficiency reduces pathophysiology in the mouse model of Duchenne muscular dystrophy through increased muscle oxidative metabolism.

Blanchet E, Annicotte JS, Pradelli LA, Hugon G, Matecki S, Mornet D, Rivier F, Fajas L.

Hum Mol Genet. 2012 Sep 1;21(17):3910-7. doi: 10.1093/hmg/dds219. Epub 2012 Jun 7.

45.

Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene.

Ishmukhametova A, Khau Van Kien P, Méchin D, Thorel D, Vincent MC, Rivier F, Coubes C, Humbertclaude V, Claustres M, Tuffery-Giraud S.

Eur J Hum Genet. 2012 Oct;20(10):1096-100. doi: 10.1038/ejhg.2012.51. Epub 2012 Apr 18.

46.

[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
47.

[Childhood parvovirus B19 encephalitis].

Meyer P, Jeziorski E, Bott-Gilton L, Foulongne V, Rivier F, Rondoin G, Rodière M.

Arch Pediatr. 2011 Dec;18(12):1315-9. doi: 10.1016/j.arcped.2011.08.013. Epub 2011 Oct 1. French.

PMID:
21963073
48.

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
49.

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
50.

A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization.

Le Guen T, Fichou Y, Nectoux J, Bahi-Buisson N, Rivier F, Boddaert N, Diebold B, Héron D, Chelly J, Bienvenu T.

Hum Mutat. 2011 Feb;32(2):E2026-35. doi: 10.1002/humu.21422. Epub 2010 Dec 7.

PMID:
21280142

Supplemental Content

Loading ...
Support Center