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Items: 1 to 50 of 106

1.

Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.

Echaniz-Laguna A, Cuisset JM, Guyant-Marechal L, Aubourg P, Kremer L, Baaloul N, Verloes A, Beladgham K, Perrot J, Francou B, Latour P.

Neurogenetics. 2019 Oct 26. doi: 10.1007/s10048-019-00596-z. [Epub ahead of print]

PMID:
31655922
2.

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.

XiangWei W, Kannan V, Xu Y, Kosobucki GJ, Schulien AJ, Kusumoto H, Moufawad El Achkar C, Bhattacharya S, Lesca G, Nguyen S, Helbig KL, Cuisset JM, Fenger CD, Marjanovic D, Schuler E, Wu Y, Bao X, Zhang Y, Dirkx N, Schoonjans AS, Syrbe S, Myers SJ, Poduri A, Aizenman E, Traynelis SF, Lemke JR, Yuan H, Jiang Y.

Brain. 2019 Oct 1;142(10):3009-3027. doi: 10.1093/brain/awz232.

PMID:
31504254
3.

Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.

Morin G, Biancalana V, Echaniz-Laguna A, Noury JB, Lornage X, Moggio M, Ripolone M, Violano R, Marcorelles P, Maréchal D, Renaud F, Maurage CA, Tard C, Cuisset JM, Laporte J, Böhm J.

Hum Mutat. 2019 Aug 26. doi: 10.1002/humu.23899. [Epub ahead of print]

PMID:
31448844
4.

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
5.

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
6.

X-linked myotubular myopathy: A prospective international natural history study.

Annoussamy M, Lilien C, Gidaro T, Gargaun E, Chê V, Schara U, Gangfuß A, D'Amico A, Dowling JJ, Darras BT, Daron A, Hernandez A, de Lattre C, Arnal JM, Mayer M, Cuisset JM, Vuillerot C, Fontaine S, Bellance R, Biancalana V, Buj-Bello A, Hogrel JY, Landy H, Servais L.

Neurology. 2019 Apr 16;92(16):e1852-e1867. doi: 10.1212/WNL.0000000000007319. Epub 2019 Mar 22.

PMID:
30902907
7.

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
8.

Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study.

Chabanon A, Seferian AM, Daron A, Péréon Y, Cances C, Vuillerot C, De Waele L, Cuisset JM, Laugel V, Schara U, Gidaro T, Gilabert S, Hogrel JY, Baudin PY, Carlier P, Fournier E, Lowes LP, Hellbach N, Seabrook T, Toledano E, Annoussamy M, Servais L; NatHis-SMA study group.

PLoS One. 2018 Jul 26;13(7):e0201004. doi: 10.1371/journal.pone.0201004. eCollection 2018.

9.

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
10.

Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts.

Joncquel-Chevalier Curt M, Bout MA, Fontaine M, Kim I, Huet G, Bekri S, Morin G, Moortgat S, Moerman A, Cuisset JM, Cheillan D, Vamecq J.

Mol Genet Metab. 2018 Apr;123(4):463-471. doi: 10.1016/j.ymgme.2018.02.010. Epub 2018 Feb 16.

PMID:
29478817
11.

Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy.

Huin V, Strubi-Vuillaume I, Dujardin K, Brion M, Delliaux M, Dellacherie D, Cuvellier JC, Cuisset JM, Riquet A, Moreau C, Defebvre L, Sablonnière B, Devos D.

Parkinsonism Relat Disord. 2017 Dec;45:85-89. doi: 10.1016/j.parkreldis.2017.09.014. Epub 2017 Sep 19.

PMID:
28947073
12.

Anti-HMGCR Antibody-Related Necrotizing Autoimmune Myopathy Mimicking Muscular Dystrophy.

Tard C, Tiffreau V, Jaillette E, Jouen F, Nelson I, Bonne G, Yaou RB, Romero N, Vallée L, Vermersch P, Nguyen S, Maurage CA, Cuisset JM.

Neuropediatrics. 2017 Dec;48(6):473-476. doi: 10.1055/s-0037-1604402. Epub 2017 Aug 4. No abstract available.

PMID:
28778101
13.

Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial.

Bertini E, Dessaud E, Mercuri E, Muntoni F, Kirschner J, Reid C, Lusakowska A, Comi GP, Cuisset JM, Abitbol JL, Scherrer B, Ducray PS, Buchbjerg J, Vianna E, van der Pol WL, Vuillerot C, Blaettler T, Fontoura P; Olesoxime SMA Phase 2 Study Investigators.

Lancet Neurol. 2017 Jul;16(7):513-522. doi: 10.1016/S1474-4422(17)30085-6. Epub 2017 Apr 28. Erratum in: Lancet Neurol. 2017 Aug;16(8):584.

14.

A fast method for high resolution oxymetry study of skeletal muscle mitochondrial respiratory chain complexes.

Vienne JC, Cimetta C, Dubois M, Duburcq T, Favory R, Dessein AF, Fontaine M, Joncquel-Chevalier Curt M, Cuisset JM, Douillard C, Mention-Mulliez K, Dobbelaere D, Vamecq J.

Anal Biochem. 2017 Jul 1;528:57-62. doi: 10.1016/j.ab.2017.04.015. Epub 2017 Apr 26.

PMID:
28456637
15.

Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.

Lornage X, Malfatti E, Chéraud C, Schneider R, Biancalana V, Cuisset JM, Garibaldi M, Eymard B, Fardeau M, Boland A, Deleuze JF, Thompson J, Carlier RY, Böhm J, Romero NB, Laporte J.

Ann Neurol. 2017 Mar;81(3):467-473. doi: 10.1002/ana.24900. Epub 2017 Mar 20.

PMID:
28220527
16.

Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients.

Grotto S, Cuisset JM, Marret S, Drunat S, Faure P, Audebert-Bellanger S, Desguerre I, Flurin V, Grebille AG, Guerrot AM, Journel H, Morin G, Plessis G, Renolleau S, Roume J, Simon-Bouy B, Touraine R, Willems M, Frébourg T, Verspyck E, Saugier-Veber P.

J Neuromuscul Dis. 2016 Nov 29;3(4):487-495.

PMID:
27911332
17.

TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.

Caubit X, Gubellini P, Andrieux J, Roubertoux PL, Metwaly M, Jacq B, Fatmi A, Had-Aissouni L, Kwan KY, Salin P, Carlier M, Liedén A, Rudd E, Shinawi M, Vincent-Delorme C, Cuisset JM, Lemaitre MP, Abderrehamane F, Duban B, Lemaitre JF, Woolf AS, Bockenhauer D, Severac D, Dubois E, Zhu Y, Sestan N, Garratt AN, Lydia Kerkerian-Le Goff, Fasano L.

Nat Genet. 2016 Nov;48(11):1359-1369. doi: 10.1038/ng.3681. Epub 2016 Sep 26.

18.

Muscle Activation during Gait in Children with Duchenne Muscular Dystrophy.

Ropars J, Lempereur M, Vuillerot C, Tiffreau V, Peudenier S, Cuisset JM, Pereon Y, Leboeuf F, Delporte L, Delpierre Y, Gross R, Brochard S.

PLoS One. 2016 Sep 13;11(9):e0161938. doi: 10.1371/journal.pone.0161938. eCollection 2016.

19.
20.

Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy.

Buyse GM, Voit T, Schara U, Straathof CS, D'Angelo MG, Bernert G, Cuisset JM, Finkel RS, Goemans N, Rummey C, Leinonen M, Mayer OH, Spagnolo P, Meier T, McDonald CM; DELOS Study Group.

Pediatr Pulmonol. 2017 Apr;52(4):508-515. doi: 10.1002/ppul.23547. Epub 2016 Aug 29.

21.

Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy.

McDonald CM, Meier T, Voit T, Schara U, Straathof CS, D'Angelo MG, Bernert G, Cuisset JM, Finkel RS, Goemans N, Rummey C, Leinonen M, Spagnolo P, Buyse GM; DELOS Study Group.

Neuromuscul Disord. 2016 Aug;26(8):473-80. doi: 10.1016/j.nmd.2016.05.008. Epub 2016 May 12.

22.

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.

Gerin I, Ury B, Breloy I, Bouchet-Seraphin C, Bolsée J, Halbout M, Graff J, Vertommen D, Muccioli GG, Seta N, Cuisset JM, Dabaj I, Quijano-Roy S, Grahn A, Van Schaftingen E, Bommer GT.

Nat Commun. 2016 May 19;7:11534. doi: 10.1038/ncomms11534.

23.

Doubling diet fat on sugar ratio in children with mitochondrial OXPHOS disorders: Effects of a randomized trial on resting energy expenditure, diet induced thermogenesis and body composition.

Béghin L, Coopman S, Schiff M, Vamecq J, Mention-Mulliez K, Hankard R, Cuisset JM, Ogier H, Gottrand F, Dobbelaere D.

Clin Nutr. 2016 Dec;35(6):1414-1422. doi: 10.1016/j.clnu.2016.03.015. Epub 2016 Apr 8.

24.

Assessment of Procedural Pain in Children Using Analgesia Nociception Index: A Pilot Study.

Avez-Couturier J, De Jonckheere J, Jeanne M, Vallée L, Cuisset JM, Logier R.

Clin J Pain. 2016 Dec;32(12):1100-1104.

PMID:
26889618
25.

[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
26.

Changes in muscle activation during gait of children with duchenne muscular dystrophy.

Ropars J, Lemeur M, Vuillerot C, Tiffreau V, Peudenier S, Cuisset JM, Pereon Y, Leboeuf F, Delporte L, Delpierre Y, Gross R, Brochard S.

Comput Methods Biomech Biomed Engin. 2015;18 Suppl 1:2042-3. doi: 10.1080/10255842.2015.1069615. Epub 2015 Sep 1. No abstract available.

PMID:
26467719
27.

[Organization of collaborative deliberation for limiting or withholding treatments in children].

Cremer R, Lervat C, Laffargue A, Le Cunff J, Joriot S, Minnaert C, Cuisset JM, Mention K, Thomas D, Guimber D, Matthews A, Fayoux P, Storme L, Vandoolaeghe S; groupe de travail de l’EEHU de Lille.

Arch Pediatr. 2015 Nov;22(11):1119-28. doi: 10.1016/j.arcped.2015.08.004. Epub 2015 Oct 1. French.

28.

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
29.

Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype.

Servais L, Montus M, Guiner CL, Ben Yaou R, Annoussamy M, Moraux A, Hogrel JY, Seferian AM, Zehrouni K, Le Moing AG, Gidaro T, Vanhulle C, Laugel V, Butoianu N, Cuisset JM, Sabouraud P, Cances C, Klein A, Leturcq F, Moullier P, Voit T.

J Neuromuscul Dis. 2015 Sep 2;2(3):269-279.

30.

Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial.

Buyse GM, Voit T, Schara U, Straathof CSM, D'Angelo MG, Bernert G, Cuisset JM, Finkel RS, Goemans N, McDonald CM, Rummey C, Meier T; DELOS Study Group.

Lancet. 2015 May 2;385(9979):1748-1757. doi: 10.1016/S0140-6736(15)60025-3. Epub 2015 Apr 20.

PMID:
25907158
31.

Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial.

Seferian AM, Moraux A, Canal A, Decostre V, Diebate O, Le Moing AG, Gidaro T, Deconinck N, Van Parys F, Vereecke W, Wittevrongel S, Annoussamy M, Mayer M, Maincent K, Cuisset JM, Tiffreau V, Denis S, Jousten V, Quijano-Roy S, Voit T, Hogrel JY, Servais L.

PLoS One. 2015 Apr 10;10(4):e0121799. doi: 10.1371/journal.pone.0121799. eCollection 2015.

32.

Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial.

Seferian AM, Moraux A, Annoussamy M, Canal A, Decostre V, Diebate O, Le Moing AG, Gidaro T, Deconinck N, Van Parys F, Vereecke W, Wittevrongel S, Mayer M, Maincent K, Desguerre I, Thémar-Noël C, Cuisset JM, Tiffreau V, Denis S, Jousten V, Quijano-Roy S, Voit T, Hogrel JY, Servais L.

PLoS One. 2015 Feb 2;10(2):e0113999. doi: 10.1371/journal.pone.0113999. eCollection 2015.

33.

15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.

Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O, Holder-Espinasse M, Delobel B, Duban B, Vallee L, Cuisset JM, Lemaitre MP, Vantyghem MC, Pigeyre M, Lanco-Dosen S, Plessis G, Gerard M, Decamp M, Mathieu M, Morin G, Jedraszak G, Bilan F, Gilbert-Dussardier B, Fauvert D, Roume J, Cormier-Daire V, Caumes R, Puechberty J, Genevieve D, Sarda P, Pinson L, Blanchet P, Lemeur N, Sheth F, Manouvrier-Hanu S, Andrieux J.

Eur J Med Genet. 2015 Mar;58(3):140-7. doi: 10.1016/j.ejmg.2015.01.002. Epub 2015 Jan 14.

PMID:
25596525
34.

21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders.

Petit F, Plessis G, Decamp M, Cuisset JM, Blyth M, Pendlebury M, Andrieux J.

Eur J Med Genet. 2015 Jan;58(1):44-6. doi: 10.1016/j.ejmg.2014.11.004. Epub 2014 Nov 20.

PMID:
25464110
35.

Botulinum toxin treatment of pes cavovarus in a child suffering from autosomal recessive axonal Charcot-Marie-Tooth neuropathy (AR-CMT2).

Tiffreau V, Allart E, Dangleterre C, Boutry N, Petit F, Cuisset JM, Thevenon A.

Eur J Phys Rehabil Med. 2015 Jun;51(3):345-9. Epub 2014 Jul 1.

36.

Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis.

Masurel-Paulet A, Drumare I, Holder M, Cuisset JM, Vallée L, Defoort S, Bourgois B, Pernes P, Cuvellier JC, Huet F, Chehadeh SE, Thevenon J, Callier P, Thauvin C, Faivre L, Andrieux J.

Am J Med Genet A. 2014 Jun;164A(6):1537-44. doi: 10.1002/ajmg.a.36471. Epub 2014 Mar 25.

PMID:
24668847
37.

[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
38.

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.

Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, Jedrzejowska M, Kostera-Pruszczyk A, van der Pol L, Wadman RI, Gredal O, Karaduman A, Topaloglu H, Yilmaz O, Matyushenko V, Rasic VM, Kosac A, Karcagi V, Garami M, Herczegfalvi A, Monges S, Moresco A, Chertkoff L, Chamova T, Guergueltcheva V, Butoianu N, Craiu D, Korngut L, Campbell C, Haberlova J, Strenkova J, Alejandro M, Jimenez A, Ortiz GG, Enriquez GV, Rodrigues M, Roxburgh R, Dawkins H, Youngs L, Lahdetie J, Angelkova N, Saugier-Veber P, Cuisset JM, Bloetzer C, Jeannet PY, Klein A, Nascimento A, Tizzano E, Salgado D, Mercuri E, Sejersen T, Kirschner J, Rafferty K, Straub V, Bushby K, Verschuuren J, Beroud C, Lochmüller H.

J Neurol. 2014 Jan;261(1):152-63. doi: 10.1007/s00415-013-7154-1. Epub 2013 Oct 27.

PMID:
24162038
39.

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
40.

[Muscle biopsy in children: Usefulness in 2012].

Cuisset JM, Maurage CA, Carpentier A, Briand G, Thévenon A, Rouaix N, Vallée L.

Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):632-9. doi: 10.1016/j.neurol.2012.11.011. Epub 2013 Aug 28. French.

PMID:
23993361
41.

[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
42.

Five year follow-up of two sisters with type II sialidosis: systemic and ophthalmic findings including OCT analysis.

Rosenberg R, Halimi E, Mention-Mulliez K, Cuisset JM, Holder M, Defoort-Dhellemmes S.

J Pediatr Ophthalmol Strabismus. 2013 Jul 2;50 Online:e33-6. doi: 10.3928/01913913-20130625-02.

PMID:
23819954
43.

The lung is involved in juvenile dermatomyositis.

Pouessel G, Deschildre A, Le Bourgeois M, Cuisset JM, Catteau B, Karila C, Nève V, Thumerelle C, Quartier P, Tillie-Leblond I.

Pediatr Pulmonol. 2013 Oct;48(10):1016-25. doi: 10.1002/ppul.22742. Epub 2012 Dec 31.

PMID:
23281200
44.

Sniff nasal inspiratory pressure in the longitudinal assessment of young Duchenne muscular dystrophy children.

Nève V, Cuisset JM, Edmé JL, Carpentier A, Howsam M, Leclerc O, Matran R.

Eur Respir J. 2013 Sep;42(3):671-80. doi: 10.1183/09031936.00127712. Epub 2012 Dec 20.

45.

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.

46.

Recommendations for the diagnosis and management of typical childhood spinal muscular atrophy.

Cuisset JM, Estournet B; French Ministry of Health.

Rev Neurol (Paris). 2012 Dec;168(12):902-9. doi: 10.1016/j.neurol.2012.07.020. Epub 2012 Oct 26. Review.

PMID:
23107878
47.

Effect of glutamine on glucose metabolism in children with Duchenne muscular dystrophy.

Letellier G, Mok E, Alberti C, De Luca A, Gottrand F, Cuisset JM, Denjean A, Darmaun D, Hankard R.

Clin Nutr. 2013 Jun;32(3):386-90. doi: 10.1016/j.clnu.2012.08.019. Epub 2012 Sep 14.

PMID:
23021433
48.

Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1.

Douniol M, Jacquette A, Cohen D, Bodeau N, Rachidi L, Angeard N, Cuisset JM, Vallée L, Eymard B, Plaza M, Héron D, Guilé JM.

Dev Med Child Neurol. 2012 Oct;54(10):905-11. doi: 10.1111/j.1469-8749.2012.04379.x. Epub 2012 Aug 3. Review.

49.

Methionine synthase deficiency: a rare cause of adult-onset leukoencephalopathy.

Outteryck O, de Sèze J, Stojkovic T, Cuisset JM, Dobbelaere D, Delalande S, Lacour A, Cabaret M, Lepoutre AC, Deramecourt V, Zéphir H, Fowler B, Vermersch P.

Neurology. 2012 Jul 24;79(4):386-8. doi: 10.1212/WNL.0b013e318260451b. Epub 2012 Jul 11. No abstract available.

PMID:
22786600
50.

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.

Héron B, Valayannopoulos V, Baruteau J, Chabrol B, Ogier H, Latour P, Dobbelaere D, Eyer D, Labarthe F, Maurey H, Cuisset JM, de Villemeur TB, Sedel F, Vanier MT.

Orphanet J Rare Dis. 2012 Jun 7;7:36. doi: 10.1186/1750-1172-7-36.

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