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Items: 1 to 50 of 113

1.

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
2.

Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy.

Aartsma-Rus A, Hegde M, Ben-Omran T, Buccella F, Ferlini A, Gallano P, Howell RR, Leturcq F, Martin AS, Potulska-Chromik A, Saute JA, Schmidt WM, Sejersen T, Tuffery-Giraud S, Uyguner ZO, Witcomb LA, Yau S, Nelson SF.

J Pediatr. 2019 Jan;204:305-313.e14. doi: 10.1016/j.jpeds.2018.10.043. No abstract available.

3.

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.

Krahn M, Biancalana V, Cerino M, Perrin A, Michel-Calemard L, Nectoux J, Leturcq F, Bouchet-Séraphin C, Acquaviva-Bourdain C, Campana-Salort E, Molon A, Urtizberea JA, Audic F, Chabrol B, Pouget J, Froissart R, Melki J, Rendu J, Petit F, Métay C, Seta N, Sternberg D, Fauré J, Cossée M.

Eur J Hum Genet. 2019 Mar;27(3):349-352. doi: 10.1038/s41431-018-0305-1. Epub 2018 Dec 14.

PMID:
30552423
4.

[An overview of Duchenne muscular dystrophy in Martinique].

Sarrazin E, Valard-Giguet AG, Leturcq F, Bellance R.

Med Sci (Paris). 2018 Nov;34 Hors série n°2:45-48. doi: 10.1051/medsci/201834s215. Epub 2018 Nov 12. French. No abstract available.

PMID:
30418149
5.

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies.

Ávila-Polo R, Malfatti E, Lornage X, Cheraud C, Nelson I, Nectoux J, Böhm J, Schneider R, Hedberg-Oldfors C, Eymard B, Monges S, Lubieniecki F, Brochier G, Thao Bui M, Madelaine A, Labasse C, Beuvin M, Lacène E, Boland A, Deleuze JF, Thompson J, Richard I, Taratuto AL, Udd B, Leturcq F, Bonne G, Oldfors A, Laporte J, Romero NB.

J Neuropathol Exp Neurol. 2018 Dec 1;77(12):1101-1114. doi: 10.1093/jnen/nly095.

PMID:
30365001
6.

Effects of Home Mechanical Ventilation on Left Ventricular Function in Sarcoglycanopathies (Limb Girdle Muscular Dystrophies).

Fayssoil A, Nguyen LS, Ogna A, Meng P, Nardi O, Laforet P, Clair B, Prigent H, Lofaso F, Leturcq F, Yaou RB, Annane D, Orlikowski D.

Am J Cardiol. 2018 Jul 15;122(2):353-355. doi: 10.1016/j.amjcard.2018.04.001. Epub 2018 Apr 16.

PMID:
29793889
7.

miR-708-5p and miR-34c-5p are involved in nNOS regulation in dystrophic context.

Guilbaud M, Gentil C, Peccate C, Gargaun E, Holtzmann I, Gruszczynski C, Falcone S, Mamchaoui K, Ben Yaou R, Leturcq F, Jeanson-Leh L, Piétri-Rouxel F.

Skelet Muscle. 2018 Apr 27;8(1):15. doi: 10.1186/s13395-018-0161-2.

8.

Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR.

Gruber A, Pacault M, El Khattabi LA, Vaucouleur N, Orhant L, Bienvenu T, Girodon E, Vidaud D, Leturcq F, Costa C, Letourneur F, Anselem O, Tsatsaris V, Goffinet F, Viot G, Vidaud M, Nectoux J.

Clin Chem Lab Med. 2018 Apr 25;56(5):728-738. doi: 10.1515/cclm-2017-0689.

PMID:
29613853
9.

Dystrophin's central domain forms a complex filament that becomes disorganized by in-frame deletions.

Delalande O, Molza AE, Dos Santos Morais R, Chéron A, Pollet É, Raguenes-Nicol C, Tascon C, Giudice E, Guilbaud M, Nicolas A, Bondon A, Leturcq F, Férey N, Baaden M, Perez J, Roblin P, Piétri-Rouxel F, Hubert JF, Czjzek M, Le Rumeur E.

J Biol Chem. 2018 May 4;293(18):6637-6646. doi: 10.1074/jbc.M117.809798. Epub 2018 Mar 13.

10.

Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis.

Fayssoil A, Ben Yaou R, Ogna A, Chaffaut C, Leturcq F, Nardi O, Wahbi K, Duboc D, Lofaso F, Prigent H, Clair B, Crenn P, Nicolas G, Laforet P, Behin A, Chevret S, Orlikowski D, Annane D.

PLoS One. 2018 Jan 5;13(1):e0190518. doi: 10.1371/journal.pone.0190518. eCollection 2018.

11.

Limb girdle muscular dystrophy due to mutations in POMT2.

Østergaard ST, Johnson K, Stojkovic T, Krag T, De Ridder W, De Jonghe P, Baets J, Claeys KG, Fernández-Torrón R, Phillips L, Topf A, Colomer J, Nafissi S, Jamal-Omidi S, Bouchet-Seraphin C, Leturcq F, MacArthur DG, Lek M, Xu L, Nelson I, Straub V, Vissing J.

J Neurol Neurosurg Psychiatry. 2018 May;89(5):506-512. doi: 10.1136/jnnp-2017-317018. Epub 2017 Nov 24.

PMID:
29175898
12.

Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation.

Fayssoil A, Yaou RB, Ogna A, Leturcq F, Nardi O, Clair B, Wahbi K, Lofaso F, Laforet P, Duboc D, Orlikowski D, Annane D.

ESC Heart Fail. 2017 Nov;4(4):527-534. doi: 10.1002/ehf2.12165. Epub 2017 May 18.

13.

Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy.

Vihola A, Luque H, Savarese M, Penttilä S, Lindfors M, Leturcq F, Eymard B, Tasca G, Brais B, Conte T, Charton K, Richard I, Udd B.

Neuropathol Appl Neurobiol. 2018 Aug;44(5):441-448. doi: 10.1111/nan.12410. Epub 2017 Jun 6.

PMID:
28489263
14.

Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients.

Papadopoulos C, LaforÊt P, Nectoux J, Stojkovic T, Wahbi K, Carlier RY, Carlier PG, Leonard-Louis S, Leturcq F, Romero N, Eymard B, Behin A.

Muscle Nerve. 2017 Dec;56(6):1096-1100. doi: 10.1002/mus.25608. Epub 2017 Apr 10.

PMID:
28187523
15.

Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms.

Marey I, Ben Yaou R, Deburgrave N, Vasson A, Nectoux J, Leturcq F, Eymard B, Laforet P, Behin A, Stojkovic T, Mayer M, Tiffreau V, Desguerre I, Boyer FC, Nadaj-Pakleza A, Ferrer X, Wahbi K, Becane HM, Claustres M, Chelly J, Cossee M.

J Neuromuscul Dis. 2016 May 27;3(2):227-245.

PMID:
27854212
16.

Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

Oestergaard ST, Stojkovic T, Dahlqvist JR, Bouchet-Seraphin C, Nectoux J, Leturcq F, Cossée M, Solé G, Thomsen C, Krag TO, Vissing J.

Neurol Genet. 2016 Oct 11;2(6):e112. eCollection 2016 Dec.

17.

Captain Haddock's health issues in the adventures of Tintin. Comparison with Tintin's health issues.

Caumes E, Epelboin L, Guermonprez G, Leturcq F, Clarke P.

Presse Med. 2016 Jul-Aug;45(7-8 Pt 1):e225-32. doi: 10.1016/j.lpm.2016.02.027. Epub 2016 Jul 21.

PMID:
27453541
18.

Droplet digital PCR, a new approach to analyze fetal DNA from maternal blood: application to the determination of fetal RHD genotype.

Orhant L, Rondeau S, Vasson A, Anselem O, Goffinet F, Allach El Khattabi L, Leturcq F, Vidaud D, Bienvenu T, Tsatsaris V, Nectoux J.

Ann Biol Clin (Paris). 2016 Jun 1;74(3):269-77. doi: 10.1684/abc.2016.1139.

19.

Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D.

Fayssoil A, Ogna A, Chaffaut C, Chevret S, Guimarães-Costa R, Leturcq F, Wahbi K, Prigent H, Lofaso F, Nardi O, Clair B, Behin A, Stojkovic T, Laforet P, Orlikowski D, Annane D.

PLoS One. 2016 Apr 27;11(4):e0153095. doi: 10.1371/journal.pone.0153095. eCollection 2016.

20.

Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.

Orhant L, Anselem O, Fradin M, Becker PH, Beugnet C, Deburgrave N, Tafuri G, Letourneur F, Goffinet F, Allach El Khattabi L, Leturcq F, Bienvenu T, Tsatsaris V, Nectoux J.

Prenat Diagn. 2016 May;36(5):397-406. doi: 10.1002/pd.4790. Epub 2016 Apr 7.

21.

[Genetics and molecular aspects of dystrophinopathies].

Leturcq F, Tuffery-Giraud S.

Arch Pediatr. 2015 Dec;22(12 Suppl 1):12S3-11. doi: 10.1016/S0929-693X(16)30002-1. Review. French.

PMID:
26773583
22.

[Interest of Droplet digital PCR in non-invasive prenatal testing].

Orhant L, Vasson A, Leturcq F, Vidaud D, Bienvenu T, Nectoux J.

Ann Biol Clin (Paris). 2015 Nov;73 Suppl 1:22-3. doi: 10.1684/abc.2015.1084. French. No abstract available.

PMID:
26620241
23.

Emery-Dreifuss Muscular Dystrophy.

Bonne G, Leturcq F, Ben Yaou R.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2004 Sep 29 [updated 2015 Nov 25].

24.

A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.

De Cid R, Ben Yaou R, Roudaut C, Charton K, Baulande S, Leturcq F, Romero NB, Malfatti E, Beuvin M, Vihola A, Criqui A, Nelson I, Nectoux J, Ben Aim L, Caloustian C, Olaso R, Udd B, Bonne G, Eymard B, Richard I.

Neurology. 2015 Dec 15;85(24):2126-35. doi: 10.1212/WNL.0000000000002200. Epub 2015 Nov 18.

25.

Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.

Massouridès E, Polentes J, Mangeot PE, Mournetas V, Nectoux J, Deburgrave N, Nusbaum P, Leturcq F, Popplewell L, Dickson G, Wein N, Flanigan KM, Peschanski M, Chelly J, Pinset C.

Skelet Muscle. 2015 Nov 14;5:40. doi: 10.1186/s13395-015-0062-6. eCollection 2015.

26.

[First Italo-French meeting on laminopathies and other pathologies related to the nuclear envelope].

Yaou RB, De Sandre-Giovannoli A, Leturcq F, Lévy N, Bonne G.

Med Sci (Paris). 2015 Nov;31 Spec No 3:39-40. doi: 10.1051/medsci/201531s311. Epub 2015 Nov 6. French. No abstract available.

27.

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.

28.

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases.

Nelson I, Stojkovic T, Allamand V, Leturcq F, Bécane HM, Babuty D, Toutain A, Béroud C, Richard P, Romero NB, Eymard B, Ben Yaou R, Bonne G.

J Neuromuscul Dis. 2015 Sep 2;2(3):229-240.

29.

Tintin's travel traumas: Health issues affecting the intrepid globetrotter.

Caumes E, Epelboin L, Leturcq F, Kozarsky P, Clarke P.

Presse Med. 2015 Jun;44(6 Pt 1):e203-10. doi: 10.1016/j.lpm.2015.01.006. Epub 2015 May 11.

PMID:
25976457
30.

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.

Semplicini C, Vissing J, Dahlqvist JR, Stojkovic T, Bello L, Witting N, Duno M, Leturcq F, Bertolin C, D'Ambrosio P, Eymard B, Angelini C, Politano L, Laforêt P, Pegoraro E.

Neurology. 2015 Apr 28;84(17):1772-81. doi: 10.1212/WNL.0000000000001519. Epub 2015 Apr 10.

31.

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.

Nectoux J, de Cid R, Baulande S, Leturcq F, Urtizberea JA, Penisson-Besnier I, Nadaj-Pakleza A, Roudaut C, Criqui A, Orhant L, Peyroulan D, Ben Yaou R, Nelson I, Cobo AM, Arné-Bes MC, Uro-Coste E, Nitschke P, Claustres M, Bonne G, Lévy N, Chelly J, Richard I, Cossée M.

Eur J Hum Genet. 2015 Jul;23(7):929-34. doi: 10.1038/ejhg.2014.223. Epub 2014 Oct 29.

32.

Becker muscular dystrophy severity is linked to the structure of dystrophin.

Nicolas A, Raguénès-Nicol C, Ben Yaou R, Ameziane-Le Hir S, Chéron A, Vié V, Claustres M, Leturcq F, Delalande O, Hubert JF, Tuffery-Giraud S, Giudice E, Le Rumeur E; French Network of Clinical Reference Centres for Neuromuscular Diseases (CORNEMUS).

Hum Mol Genet. 2015 Mar 1;24(5):1267-79. doi: 10.1093/hmg/ddu537. Epub 2014 Oct 27.

33.

When a mid-intronic variation of DMD gene creates an ESE site.

Trabelsi M, Beugnet C, Deburgrave N, Commere V, Orhant L, Leturcq F, Chelly J.

Neuromuscul Disord. 2014 Dec;24(12):1111-7. doi: 10.1016/j.nmd.2014.07.003. Epub 2014 Aug 1.

PMID:
25193336
34.

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.

Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, Roy A, Chamova T, Guergueltcheva V, Korngut L, Campbell C, Dai Y, Barišić N, Kos T, Brabec P, Rahbek J, Lahdetie J, Tuffery-Giraud S, Claustres M, Leturcq F, Ben Yaou R, Walter MC, Schreiber O, Karcagi V, Herczegfalvi A, Viswanathan V, Bayat F, de la Caridad Guerrero Sarmiento I, Ambrosini A, Ceradini F, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Oliveira J, Santos R, Neagu E, Butoianu N, Artemieva S, Rasic VM, Posada M, Palau F, Lindvall B, Bloetzer C, Karaduman A, Topaloğlu H, Inal S, Oflazer P, Stringer A, Shatillo AV, Martin AS, Peay H, Flanigan KM, Salgado D, von Rekowski B, Lynn S, Heslop E, Gainotti S, Taruscio D, Kirschner J, Verschuuren J, Bushby K, Béroud C, Lochmüller H.

Hum Mutat. 2013 Nov;34(11):1449-57. doi: 10.1002/humu.22390. Epub 2013 Aug 26.

PMID:
23913485
35.

Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.

Vasson A, Leroux C, Orhant L, Boimard M, Toussaint A, Leroy C, Commere V, Ghiotti T, Deburgrave N, Saillour Y, Atlan I, Fouveaut C, Beldjord C, Valleix S, Leturcq F, Dodé C, Bienvenu T, Chelly J, Cossée M.

Eur J Hum Genet. 2013 Sep;21(9):977-87. doi: 10.1038/ejhg.2012.279. Epub 2013 Jan 23.

36.

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.

Mercier S, Toutain A, Toussaint A, Raynaud M, de Barace C, Marcorelles P, Pasquier L, Blayau M, Espil C, Parent P, Journel H, Lazaro L, Andoni Urtizberea J, Moerman A, Faivre L, Eymard B, Maincent K, Gherardi R, Chaigne D, Ben Yaou R, Leturcq F, Chelly J, Desguerre I.

Eur J Hum Genet. 2013 Aug;21(8):855-63. doi: 10.1038/ejhg.2012.269. Epub 2013 Jan 9. Erratum in: Eur J Hum Genet. 2013 Aug;21(8):892.

37.

Dilated cardiomyopathy in patients with mutations in anoctamin 5.

Wahbi K, Béhin A, Bécane HM, Leturcq F, Cossée M, Laforêt P, Stojkovic T, Carlier P, Toussaint M, Gaxotte V, Cluzel P, Eymard B, Duboc D.

Int J Cardiol. 2013 Sep 20;168(1):76-9. doi: 10.1016/j.ijcard.2012.09.070. Epub 2012 Oct 3.

PMID:
23041008
38.

Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.

Nicolas A, Lucchetti-Miganeh C, Yaou RB, Kaplan JC, Chelly J, Leturcq F, Barloy-Hubler F, Le Rumeur E.

Orphanet J Rare Dis. 2012 Jul 9;7:45. doi: 10.1186/1750-1172-7-42.

39.

Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation.

Gentil C, Leturcq F, Ben Yaou R, Kaplan JC, Laforet P, Pénisson-Besnier I, Espil-Taris C, Voit T, Garcia L, Piétri-Rouxel F.

Hum Mol Genet. 2012 Aug 1;21(15):3449-60. doi: 10.1093/hmg/dds176. Epub 2012 May 15.

PMID:
22589245
40.

Miyoshi-like distal myopathy with mutations in anoctamin 5 gene.

Bouquet F, Cossée M, Béhin A, Deburgrave N, Romero N, Leturcq F, Eymard B.

Rev Neurol (Paris). 2012 Feb;168(2):135-41. doi: 10.1016/j.neurol.2011.10.005. Epub 2012 Feb 13.

PMID:
22336395
41.

A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C.

Herson S, Hentati F, Rigolet A, Behin A, Romero NB, Leturcq F, Laforêt P, Maisonobe T, Amouri R, Haddad H, Audit M, Montus M, Masurier C, Gjata B, Georger C, Cheraï M, Carlier P, Hogrel JY, Herson A, Allenbach Y, Lemoine FM, Klatzmann D, Sweeney HL, Mulligan RC, Eymard B, Caizergues D, Voït T, Benveniste O.

Brain. 2012 Feb;135(Pt 2):483-92. doi: 10.1093/brain/awr342. Epub 2012 Jan 11.

PMID:
22240777
42.

Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?

Sáenz A, Ono Y, Sorimachi H, Goicoechea M, Leturcq F, Blázquez L, García-Bragado F, Marina A, Poza JJ, Azpitarte M, Doi N, Urtasun M, Kaplan JC, López de Munain A.

Muscle Nerve. 2011 Nov;44(5):710-4. doi: 10.1002/mus.22194.

PMID:
22006685
43.

Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America.

Vernengo L, Oliveira J, Krahn M, Vieira E, Santos R, Carrasco L, Negrão L, Panuncio A, Leturcq F, Labelle V, Bronze-da-Rocha E, Mesa R, Pizzarossa C, Lévy N, Rodriguez MM.

Neuromuscul Disord. 2011 May;21(5):328-37. doi: 10.1016/j.nmd.2011.02.003. Epub 2011 Mar 9.

PMID:
21392994
44.

Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?

Krahn M, Goicoechea M, Hanisch F, Groen E, Bartoli M, Pécheux C, Garcia-Bragado F, Leturcq F, Jeannet PY, Lobrinus JA, Jacquemont S, Strober J, Urtizberea JA, Saenz A, Bushby K, Lévy N, Lopez de Munain A.

Clin Genet. 2011 Oct;80(4):398-402. doi: 10.1111/j.1399-0004.2010.01620.x. No abstract available.

PMID:
21204801
45.

A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.

Krahn M, Wein N, Bartoli M, Lostal W, Courrier S, Bourg-Alibert N, Nguyen K, Vial C, Streichenberger N, Labelle V, DePetris D, Pécheux C, Leturcq F, Cau P, Richard I, Lévy N.

Sci Transl Med. 2010 Sep 22;2(50):50ra69. doi: 10.1126/scitranslmed.3000951.

46.

Marked hemiatrophy in carriers of Duchenne muscular dystrophy.

Rajakulendran S, Kuntzer T, Dunand M, Yau SC, Ashton EJ, Storey H, McCauley J, Abbs S, Thonney F, Leturcq F, Lobrinus JA, Yousry T, Farmer S, Holton JL, Hanna MG.

Arch Neurol. 2010 Apr;67(4):497-500. doi: 10.1001/archneurol.2010.58.

PMID:
20385919
47.

Immunolabelling and flow cytometry as new tools to explore dysferlinopathies.

Wein N, Krahn M, Courrier S, Bartoli M, Salort-Campana E, Nguyen K, Fernandez C, Pouget J, Fossat C, Depetris D, Leturcq F, Cau P, Levy N.

Neuromuscul Disord. 2010 Jan;20(1):57-60. doi: 10.1016/j.nmd.2009.08.004. Epub 2009 Oct 23.

PMID:
19854055
48.

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
49.

[Phenotypic heterogeneity of Duchenne myopathy and prognosis criteria].

Desguerre I, Mayer M, Christov C, Leturcq F, Chelly J, Gherardi RK.

Arch Pediatr. 2009 Jun;16(6):681-3. doi: 10.1016/S0929-693X(09)74110-7. French. No abstract available.

PMID:
19541128
50.

Endomysial fibrosis in Duchenne muscular dystrophy: a marker of poor outcome associated with macrophage alternative activation.

Desguerre I, Mayer M, Leturcq F, Barbet JP, Gherardi RK, Christov C.

J Neuropathol Exp Neurol. 2009 Jul;68(7):762-73. doi: 10.1097/NEN.0b013e3181aa31c2.

PMID:
19535995

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