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Items: 1 to 50 of 84

1.

Peptide-conjugated oligonucleotides evoke long-lasting myotonic dystrophy correction in patient-derived cells and mice.

Klein AF, Varela MA, Arandel L, Holland A, Naouar N, Arzumanov A, Seoane D, Revillod L, Bassez G, Ferry A, Jauvin D, Gourdon G, Puymirat J, Gait MJ, Furling D, Wood MJA.

J Clin Invest. 2019 Sep 3. pii: 128205. doi: 10.1172/JCI128205. [Epub ahead of print]

2.

Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations.

Voermans NC, van der Bilt RC, IJspeert J, Hogrel JY, Jeanpierre M, Behin A, Laforet P, Stojkovic T, van Engelen BG, Padberg GW, Sacconi S, Lemmers RJLF, van der Maarel SM, Eymard B, Bassez G.

J Neurol. 2019 Aug 31. doi: 10.1007/s00415-019-09494-8. [Epub ahead of print]

PMID:
31471688
3.

Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Díaz-Manera J, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmüller H.

Orphanet J Rare Dis. 2019 Aug 15;14(1):199. doi: 10.1186/s13023-019-1157-7.

4.

Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort.

Cumming SA, Jimenez-Moreno C, Okkersen K, Wenninger S, Daidj F, Hogarth F, Littleford R, Gorman G, Bassez G, Schoser B, Lochmüller H, van Engelen BGM, Monckton DG; OPTIMISTIC Consortium.

Neurology. 2019 Sep 3;93(10):e995-e1009. doi: 10.1212/WNL.0000000000008056. Epub 2019 Aug 8.

PMID:
31395669
5.

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care.

De Antonio M, Dogan C, Daidj F, Eymard B, Puymirat J, Mathieu J, Gagnon C, Katsahian S; Filnemus Myotonic Dystrophy Study Group, Hamroun D, Bassez G.

Orphanet J Rare Dis. 2019 Jun 3;14(1):122. doi: 10.1186/s13023-019-1088-3.

6.

Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI.

Heskamp L, van Nimwegen M, Ploegmakers MJ, Bassez G, Deux JF, Cumming SA, Monckton DG, van Engelen BGM, Heerschap A.

Neurology. 2019 Jun 11;92(24):e2803-e2814. doi: 10.1212/WNL.0000000000007648. Epub 2019 May 22.

7.

Diaphragm sniff ultrasound: Normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disorders.

Fayssoil A, Nguyen LS, Ogna A, Stojkovic T, Meng P, Mompoint D, Carlier R, Prigent H, Clair B, Behin A, Laforet P, Bassez G, Crenn P, Orlikowski D, Annane D, Eymard B, Lofaso F.

PLoS One. 2019 Apr 24;14(4):e0214288. doi: 10.1371/journal.pone.0214288. eCollection 2019.

8.

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.

Olivé M, Engvall M, Ravenscroft G, Cabrera-Serrano M, Jiao H, Bortolotti CA, Pignataro M, Lambrughi M, Jiang H, Forrest ARR, Benseny-Cases N, Hofbauer S, Obinger C, Battistuzzi G, Bellei M, Borsari M, Di Rocco G, Viola HM, Hool LC, Cladera J, Lagerstedt-Robinson K, Xiang F, Wredenberg A, Miralles F, Baiges JJ, Malfatti E, Romero NB, Streichenberger N, Vial C, Claeys KG, Straathof CSM, Goris A, Freyer C, Lammens M, Bassez G, Kere J, Clemente P, Sejersen T, Udd B, Vidal N, Ferrer I, Edström L, Wedell A, Laing NG.

Nat Commun. 2019 Mar 27;10(1):1396. doi: 10.1038/s41467-019-09111-2.

9.

Assessment of diaphragm motion using ultrasonography in a patient with facio-scapulo-humeral dystrophy: A case report.

Fayssoil A, Stojkovic T, Ogna A, Laforet P, Prigent H, Lofaso F, Orlikowski D, Bassez G, Eymard B, Behin A.

Medicine (Baltimore). 2019 Jan;98(4):e13887. doi: 10.1097/MD.0000000000013887.

10.

[Pharmacological research and pluripotent stem cells: from the innovative experimental paradigm to the successful clinical trial].

Baghdoyan S, Bassez G, Audureau E, Peschanski M.

Med Sci (Paris). 2019 Jan;35(1):26-29. doi: 10.1051/medsci/2018316. Epub 2019 Jan 23. French. No abstract available.

PMID:
30672450
11.

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
12.

Reply: Could weight loss contribute to the improved mobility with metformin in patients with myotonic dystrophy type 1?

Bassez G, Audureau E, Peschanski M.

Brain. 2019 Feb 1;142(2):e6. doi: 10.1093/brain/awy337. No abstract available.

PMID:
30615109
13.

Consensus-based care recommendations for adults with myotonic dystrophy type 1.

Ashizawa T, Gagnon C, Groh WJ, Gutmann L, Johnson NE, Meola G, Moxley R 3rd, Pandya S, Rogers MT, Simpson E, Angeard N, Bassez G, Berggren KN, Bhakta D, Bozzali M, Broderick A, Byrne JLB, Campbell C, Cup E, Day JW, De Mattia E, Duboc D, Duong T, Eichinger K, Ekstrom AB, van Engelen B, Esparis B, Eymard B, Ferschl M, Gadalla SM, Gallais B, Goodglick T, Heatwole C, Hilbert J, Holland V, Kierkegaard M, Koopman WJ, Lane K, Maas D, Mankodi A, Mathews KD, Monckton DG, Moser D, Nazarian S, Nguyen L, Nopoulos P, Petty R, Phetteplace J, Puymirat J, Raman S, Richer L, Roma E, Sampson J, Sansone V, Schoser B, Sterling L, Statland J, Subramony SH, Tian C, Trujillo C, Tomaselli G, Turner C, Venance S, Verma A, White M, Winblad S.

Neurol Clin Pract. 2018 Dec;8(6):507-520. doi: 10.1212/CPJ.0000000000000531. Review.

14.

Echographic Assessment of Diaphragmatic Function in Duchenne Muscular Dystrophy from Childhood to Adulthood.

Fayssoil A, Chaffaut C, Ogna A, Stojkovic T, Lamothe L, Mompoint D, Meng P, Prigent H, Clair B, Behin A, Laforet P, Bassez G, Carlier R, Orlikowski D, Amthor H, Quijano Roy S, Crenn P, Chevret S, Eymard B, Lofaso F, Annane D.

J Neuromuscul Dis. 2019;6(1):55-64. doi: 10.3233/JND-180326.

PMID:
30562904
15.

[Retinal involvement in type 1 myotonic dystrophy: Literature review and presentation of a project based on the DM-Scope].

Brignol TN, Leveziel N, Dogan C, Moussu-Haudebourg H, Bassez G.

J Fr Ophtalmol. 2018 Nov;41(9):e445-e446. doi: 10.1016/j.jfo.2018.03.016. Epub 2018 Oct 30. Review. French. No abstract available.

PMID:
30389178
16.

High Risk of Fatal and Nonfatal Venous Thromboembolism in Myotonic Dystrophy.

Sochala M, Porcher R, Stojkovic T, Bécane HM, Béhin A, Laforêt P, Bassez G, Leonard-Louis S, Eymard B, Furling D, Duboc D, Wahbi K.

Circulation. 2018 Sep 11;138(11):1169-1171. doi: 10.1161/CIRCULATIONAHA.118.035035. No abstract available.

PMID:
30354391
17.

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Manera JAD, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmüller H.

Orphanet J Rare Dis. 2018 Sep 5;13(1):155. doi: 10.1186/s13023-018-0889-0. Erratum in: Orphanet J Rare Dis. 2019 Aug 15;14(1):199.

18.

Improved mobility with metformin in patients with myotonic dystrophy type 1: a randomized controlled trial.

Bassez G, Audureau E, Hogrel JY, Arrouasse R, Baghdoyan S, Bhugaloo H, Gourlay-Chu ML, Le Corvoisier P, Peschanski M.

Brain. 2018 Oct 1;141(10):2855-2865. doi: 10.1093/brain/awy231.

PMID:
30169600
19.

Renal artery fibromuscular dysplasia in Pompe disease: A case report.

Pappa E, Papadopoulos C, Grimbert P, Laforêt P, Bassez G.

Mol Genet Metab Rep. 2018 Jul 26;16:64-65. doi: 10.1016/j.ymgmr.2018.07.002. eCollection 2018 Sep.

20.

Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial.

Okkersen K, Jimenez-Moreno C, Wenninger S, Daidj F, Glennon J, Cumming S, Littleford R, Monckton DG, Lochmüller H, Catt M, Faber CG, Hapca A, Donnan PT, Gorman G, Bassez G, Schoser B, Knoop H, Treweek S, van Engelen BGM; OPTIMISTIC consortium.

Lancet Neurol. 2018 Aug;17(8):671-680. doi: 10.1016/S1474-4422(18)30203-5. Epub 2018 Jun 19.

PMID:
29934199
21.

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences.

Sellier C, Cerro-Herreros E, Blatter M, Freyermuth F, Gaucherot A, Ruffenach F, Sarkar P, Puymirat J, Udd B, Day JW, Meola G, Bassez G, Fujimura H, Takahashi MP, Schoser B, Furling D, Artero R, Allain FHT, Llamusi B, Charlet-Berguerand N.

Nat Commun. 2018 May 22;9(1):2009. doi: 10.1038/s41467-018-04370-x.

22.

Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism.

Tomé S, Dandelot E, Dogan C, Bertrand A, Geneviève D, Péréon Y; DM contraction study group, Simon M, Bonnefont JP, Bassez G, Gourdon G.

Hum Mutat. 2018 Jul;39(7):970-982. doi: 10.1002/humu.23531. Epub 2018 May 19.

PMID:
29664219
23.

222nd ENMC International Workshop:: Myotonic dystrophy, developing a European consortium for care and therapy, Naarden, The Netherlands, 1-2 July 2016.

Wood L, Bassez G, van Engelen B, Lochmüller H, Schoser B; 222nd ENMC workshop participants.

Neuromuscul Disord. 2018 May;28(5):463-469. doi: 10.1016/j.nmd.2018.02.003. Epub 2018 Feb 12. No abstract available.

PMID:
29550152
24.

Muscle ischaemia associated with NXP2 autoantibodies: a severe subtype of juvenile dermatomyositis.

Aouizerate J, De Antonio M, Bader-Meunier B, Barnerias C, Bodemer C, Isapof A, Quartier P, Melki I, Charuel JL, Bassez G, Desguerre I, Gherardi RK, Authier FJ, Gitiaux C.

Rheumatology (Oxford). 2018 May 1;57(5):873-879. doi: 10.1093/rheumatology/kex516.

PMID:
29474663
25.

Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1.

Wahbi K, Porcher R, Laforêt P, Fayssoil A, Bécane HM, Lazarus A, Sochala M, Stojkovic T, Béhin A, Leonard-Louis S, Arnaud P, Furling D, Probst V, Babuty D, Pellieux S, Clementy N, Bassez G, Péréon Y, Eymard B, Duboc D.

JAMA Neurol. 2018 May 1;75(5):573-581. doi: 10.1001/jamaneurol.2017.4778.

26.

The benefits and tolerance of exercise in myasthenia gravis (MGEX): study protocol for a randomised controlled trial.

Birnbaum S, Hogrel JY, Porcher R, Portero P, Clair B, Eymard B, Demeret S, Bassez G, Gargiulo M, Louët E, Berrih-Aknin S, Jobic A, Aegerter P, Thoumie P, Sharshar T; MGEX Study Group.

Trials. 2018 Jan 18;19(1):49. doi: 10.1186/s13063-017-2433-2.

27.

Hearing impairment in patients with myotonic dystrophy type 2.

van Vliet J, Tieleman AA, van Engelen BGM, Bassez G, Servais L, Béhin A, Stojkovic T, Meulstee J, Engel JAM, Lamas G, Eymard B, Verhagen WIM, Mamelle E.

Neurology. 2018 Feb 13;90(7):e615-e622. doi: 10.1212/WNL.0000000000004963. Epub 2018 Jan 17.

PMID:
29343467
28.

Relationships between grip strength, myotonia, and CTG expansion in myotonic dystrophy type 1.

Hogrel JY, Ollivier G, Ledoux I, Hébert LJ, Eymard B, Puymirat J, Bassez G.

Ann Clin Transl Neurol. 2017 Nov 7;4(12):921-925. doi: 10.1002/acn3.496. eCollection 2017 Dec.

29.

Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice.

Jauvin D, Chrétien J, Pandey SK, Martineau L, Revillod L, Bassez G, Lachon A, MacLeod AR, Gourdon G, Wheeler TM, Thornton CA, Bennett CF, Puymirat J.

Mol Ther Nucleic Acids. 2017 Jun 16;7:465-474. doi: 10.1016/j.omtn.2017.05.007. Epub 2017 May 17.

30.

Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart Registry.

Chong-Nguyen C, Wahbi K, Algalarrondo V, Bécane HM, Radvanyi-Hoffman H, Arnaud P, Furling D, Lazarus A, Bassez G, Béhin A, Fayssoil A, Laforêt P, Stojkovic T, Eymard B, Duboc D.

Circ Cardiovasc Genet. 2017 Jun;10(3). pii: e001526. doi: 10.1161/CIRCGENETICS.116.001526.

PMID:
28611030
31.

The quality of life in genetic neuromuscular disease questionnaire: Rasch validation of the French version.

Dany A, Rapin A, Lavrard B, Saoût V, Réveillère C, Bassez G, Tiffreau V, Péréon Y, Sacconi S, Eymard B, Dramé M, Jolly D, Novella JL, Hardouin JB, Boyer FC.

Muscle Nerve. 2017 Dec;56(6):1085-1091. doi: 10.1002/mus.25598. Epub 2017 Mar 21.

PMID:
28164330
32.

Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification.

De Antonio M, Dogan C, Hamroun D, Mati M, Zerrouki S, Eymard B, Katsahian S, Bassez G; French Myotonic Dystrophy Clinical Network.

Rev Neurol (Paris). 2016 Oct;172(10):572-580. doi: 10.1016/j.neurol.2016.08.003. Epub 2016 Sep 21. Review.

PMID:
27665240
33.

Relationship between muscle impairments, postural stability, and gait parameters assessed with lower-trunk accelerometry in myotonic dystrophy type 1.

Bachasson D, Moraux A, Ollivier G, Decostre V, Ledoux I, Gidaro T, Servais L, Behin A, Stojkovic T, Hébert LJ, Puymirat J, Eymard B, Bassez G, Hogrel JY.

Neuromuscul Disord. 2016 Jul;26(7):428-35. doi: 10.1016/j.nmd.2016.05.009. Epub 2016 May 12.

PMID:
27234310
34.

Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.

Béhin A, Acquaviva-Bourdain C, Souvannanorath S, Streichenberger N, Attarian S, Bassez G, Brivet M, Fouilhoux A, Labarre-Villa A, Laquerrière A, Pérard L, Kaminsky P, Pouget J, Rigal O, Vanhulle C, Eymard B, Vianey-Saban C, Laforêt P.

Rev Neurol (Paris). 2016 Mar;172(3):231-41. doi: 10.1016/j.neurol.2015.11.008. Epub 2016 Mar 30.

PMID:
27038534
35.

Atrial flutter in myotonic dystrophy type 1: Patient characteristics and clinical outcome.

Wahbi K, Sebag FA, Lellouche N, Lazarus A, Bécane HM, Bassez G, Stojkovic T, Fayssoil A, Laforêt P, Béhin A, Meune C, Eymard B, Duboc D.

Neuromuscul Disord. 2016 Mar;26(3):227-33. doi: 10.1016/j.nmd.2016.01.005. Epub 2016 Feb 10.

PMID:
26948709
36.

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.

Dogan C, De Antonio M, Hamroun D, Varet H, Fabbro M, Rougier F, Amarof K, Arne Bes MC, Bedat-Millet AL, Behin A, Bellance R, Bouhour F, Boutte C, Boyer F, Campana-Salort E, Chapon F, Cintas P, Desnuelle C, Deschamps R, Drouin-Garraud V, Ferrer X, Gervais-Bernard H, Ghorab K, Laforet P, Magot A, Magy L, Menard D, Minot MC, Nadaj-Pakleza A, Pellieux S, Pereon Y, Preudhomme M, Pouget J, Sacconi S, Sole G, Stojkovich T, Tiffreau V, Urtizberea A, Vial C, Zagnoli F, Caranhac G, Bourlier C, Riviere G, Geille A, Gherardi RK, Eymard B, Puymirat J, Katsahian S, Bassez G.

PLoS One. 2016 Feb 5;11(2):e0148264. doi: 10.1371/journal.pone.0148264. eCollection 2016.

37.

[DM-SCOPE, an intermediary appraisal report and benefits of databases in neuromuscular disorders].

Dogan C, Puymirat J, Bassez G.

Med Sci (Paris). 2015 Nov;31 Spec No 3:18-9. doi: 10.1051/medsci/201531s305. Epub 2015 Nov 6. French. No abstract available.

38.

[Chanarin-Dorfman syndrome in a 7-year-old child: when myophathy and skin involvement are all but one].

Barnérias C, Bassez G, Schischmanoff O.

Med Sci (Paris). 2015 Nov;31 Spec No 3:11-3. doi: 10.1051/medsci/201531s303. Epub 2015 Nov 6. French. No abstract available.

39.

In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin.

Laustriat D, Gide J, Barrault L, Chautard E, Benoit C, Auboeuf D, Boland A, Battail C, Artiguenave F, Deleuze JF, Bénit P, Rustin P, Franc S, Charpentier G, Furling D, Bassez G, Nissan X, Martinat C, Peschanski M, Baghdoyan S.

Mol Ther Nucleic Acids. 2015 Nov 3;4:e262. doi: 10.1038/mtna.2015.35.

40.

Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease.

Dany A, Barbe C, Rapin A, Réveillère C, Hardouin JB, Morrone I, Wolak-Thierry A, Dramé M, Calmus A, Sacconi S, Bassez G, Tiffreau V, Richard I, Gallais B, Prigent H, Taiar R, Jolly D, Novella JL, Boyer FC.

Qual Life Res. 2015 Nov;24(11):2615-23. doi: 10.1007/s11136-015-1013-8. Epub 2015 Jul 4.

PMID:
26141500
41.

Natural history of skeletal muscle involvement in myotonic dystrophy type 1: a retrospective study in 204 cases.

Bouchard JP, Cossette L, Bassez G, Puymirat J.

J Neurol. 2015 Feb;262(2):285-93. doi: 10.1007/s00415-014-7570-x. Epub 2014 Nov 8.

PMID:
25380585
42.

Myofiber HLA-DR expression is a distinctive biomarker for antisynthetase-associated myopathy.

Aouizerate J, De Antonio M, Bassez G, Gherardi RK, Berenbaum F, Guillevin L, Berezne A, Valeyre D, Maisonobe T, Dubourg O, Cosnes A, Benveniste O, Authier FJ.

Acta Neuropathol Commun. 2014 Oct 23;2:154. doi: 10.1186/s40478-014-0154-2.

43.

Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies.

Bachinski LL, Baggerly KA, Neubauer VL, Nixon TJ, Raheem O, Sirito M, Unruh AK, Zhang J, Nagarajan L, Timchenko LT, Bassez G, Eymard B, Gamez J, Ashizawa T, Mendell JR, Udd B, Krahe R.

Neuromuscul Disord. 2014 Mar;24(3):227-40. doi: 10.1016/j.nmd.2013.11.001. Epub 2013 Nov 15.

44.

Distinctive clinical features in arthro-myalgic patients with and without aluminum hydroxyde-induced macrophagic myofasciitis: an exploratory study.

Ragunathan-Thangarajah N, Le Beller C, Boutouyrie P, Bassez G, Gherardi RK, Laurent S, Authier FJ.

J Inorg Biochem. 2013 Nov;128:262-6. doi: 10.1016/j.jinorgbio.2013.07.020. Epub 2013 Jul 20.

PMID:
23921285
45.

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
46.

Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour.

Hernández-Hernández O, Guiraud-Dogan C, Sicot G, Huguet A, Luilier S, Steidl E, Saenger S, Marciniak E, Obriot H, Chevarin C, Nicole A, Revillod L, Charizanis K, Lee KY, Suzuki Y, Kimura T, Matsuura T, Cisneros B, Swanson MS, Trovero F, Buisson B, Bizot JC, Hamon M, Humez S, Bassez G, Metzger F, Buée L, Munnich A, Sergeant N, Gourdon G, Gomes-Pereira M.

Brain. 2013 Mar;136(Pt 3):957-70. doi: 10.1093/brain/aws367. Epub 2013 Feb 11.

47.

Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study.

Laforêt P, Stojkovic T, Bassez G, Carlier PG, Clément K, Wahbi K, Petit FM, Eymard B, Carlier RY.

Mol Genet Metab. 2013 Feb;108(2):125-31. doi: 10.1016/j.ymgme.2012.12.004. Epub 2012 Dec 28.

PMID:
23333026
48.

Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus.

Huguet A, Medja F, Nicole A, Vignaud A, Guiraud-Dogan C, Ferry A, Decostre V, Hogrel JY, Metzger F, Hoeflich A, Baraibar M, Gomes-Pereira M, Puymirat J, Bassez G, Furling D, Munnich A, Gourdon G.

PLoS Genet. 2012;8(11):e1003043. doi: 10.1371/journal.pgen.1003043. Epub 2012 Nov 29.

49.

Central and peripheral components of exercise-related fatigability in myotonic dystrophy type 1.

Boërio D, Lefaucheur JP, Bassez G, Hogrel JY.

Acta Neurol Scand. 2012 Jan;125(1):38-46. doi: 10.1111/j.1600-0404.2011.01497.x. Epub 2011 Feb 25.

PMID:
22188374
50.

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.

Fugier C, Klein AF, Hammer C, Vassilopoulos S, Ivarsson Y, Toussaint A, Tosch V, Vignaud A, Ferry A, Messaddeq N, Kokunai Y, Tsuburaya R, de la Grange P, Dembele D, Francois V, Precigout G, Boulade-Ladame C, Hummel MC, Lopez de Munain A, Sergeant N, Laquerrière A, Thibault C, Deryckere F, Auboeuf D, Garcia L, Zimmermann P, Udd B, Schoser B, Takahashi MP, Nishino I, Bassez G, Laporte J, Furling D, Charlet-Berguerand N.

Nat Med. 2011 Jun;17(6):720-5. doi: 10.1038/nm.2374. Epub 2011 May 29.

PMID:
21623381

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