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Items: 1 to 50 of 68

1.

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.

2.

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
3.

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.

4.

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
5.

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.

6.

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
7.

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
8.

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
9.

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.

PMID:
29404559
10.

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.

11.

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
12.

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.

13.

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.

14.

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
15.

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
16.

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
17.

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
18.

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
19.

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
20.

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.

21.

[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.

22.

[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.

23.

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.

24.

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
25.

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
26.

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.

27.

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.

28.

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
29.

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
30.

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.

31.

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
32.

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.

33.

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
34.

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
35.

Myotonic dystrophy type 2 (DM2) and related disorders report of the 180th ENMC workshop including guidelines on diagnostics and management 3-5 December 2010, Naarden, The Netherlands.

Udd B, Meola G, Krahe R, Wansink DG, Bassez G, Kress W, Schoser B, Moxley R.

Neuromuscul Disord. 2011 Jun;21(6):443-50. doi: 10.1016/j.nmd.2011.03.013. Epub 2011 May 4. No abstract available.

PMID:
21543227
36.

Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report.

Sinico M, Bassez G, Touboul C, Cavé H, Vergnaud A, Zirah C, Fleury-Feith J, Gettler S, Vojtek AM, Chevalier N, Amram D, Alsamad IA, Haddad B, Encha-Razavi F.

Pediatr Dev Pathol. 2011 May-Jun;14(3):218-23. doi: 10.2350/09-06-0664-CR.1. Epub 2010 Jul 26.

PMID:
20658932
37.

[Management of muscle and nerve biopsies: expert guidelines from two French professional societies, Société française de myologie et de l'Association française contre les myopathies].

Uro-Soste E, Fernandez C, Authier FJ, Bassez G, Butori C, Chapon F, Delisle MB, Dubourg O, Feasson L, Gherardi R, Lacroix C, Laquerriere A, Letournel F, Magy L, Maisonobe T, Marcorelles P, Maurage CA, Mezin P, Mussini JM, Penisson-Besnier I, Romero NB, Streichenberger N, Vallat JM, Viennet G, Vital A, Voit T, Boucharef W, Figarella-Branger D; Société française de myologie; Association française contre les myopathies.

Rev Neurol (Paris). 2010 May;166(5):477-85. French. No abstract available.

PMID:
20626090
38.

Late-onset cervicoscapular muscle atrophy and weakness after radiotherapy for Hodgkin disease: a case series.

Furby A, Béhin A, Lefaucheur JP, Beauvais K, Marcorelles P, Mussini JM, Bassez G, Créange A, Eymard B, Pénisson-Besnier I.

J Neurol Neurosurg Psychiatry. 2010 Jan;81(1):101-4. doi: 10.1136/jnnp.2008.167577.

PMID:
20019226
39.

Clustering of the human skeletal muscle fibers using linear programming and angular Hilbertian metrics.

Neji R, Besbes A, Komodakis N, Deux JF, Maatouk M, Rahmouni A, Bassez G, Fleury G, Paragios N.

Inf Process Med Imaging. 2009;21:14-25.

PMID:
19694249
40.

Left ventricular dysfunction and cardiac arrhythmias are frequent in type 2 myotonic dystrophy: a case control study.

Wahbi K, Meune C, Bécane HM, Laforêt P, Bassez G, Lazarus A, Radvanyi-Hoffman H, Eymard B, Duboc D.

Neuromuscul Disord. 2009 Jul;19(7):468-72. doi: 10.1016/j.nmd.2009.04.012. Epub 2009 May 29.

PMID:
19481939
41.

Dysferlinopathies.

Urtizberea JA, Bassez G, Leturcq F, Nguyen K, Krahn M, Levy N.

Neurol India. 2008 Jul-Sep;56(3):289-97. Review.

42.

Analysis of the DYSF mutational spectrum in a large cohort of patients.

Krahn M, Béroud C, Labelle V, Nguyen K, Bernard R, Bassez G, Figarella-Branger D, Fernandez C, Bouvenot J, Richard I, Ollagnon-Roman E, Bevilacqua JA, Salvo E, Attarian S, Chapon F, Pellissier JF, Pouget J, Hammouda el H, Laforêt P, Urtizberea JA, Eymard B, Leturcq F, Lévy N.

Hum Mutat. 2009 Feb;30(2):E345-75. doi: 10.1002/humu.20910.

PMID:
18853459
43.

Assessment of calf muscle contraction by diffusion tensor imaging.

Deux JF, Malzy P, Paragios N, Bassez G, Luciani A, Zerbib P, Roudot-Thoraval F, Vignaud A, Kobeiter H, Rahmouni A.

Eur Radiol. 2008 Oct;18(10):2303-10. doi: 10.1007/s00330-008-1012-z. Epub 2008 May 8.

PMID:
18463875
44.

Left ventricular non-compaction in a patient with myotonic dystrophy type 2.

Wahbi K, Meune C, Bassez G, Laforêt P, Vignaux O, Marmursztejn J, Bécane HM, Eymard B, Duboc D.

Neuromuscul Disord. 2008 Apr;18(4):331-3. doi: 10.1016/j.nmd.2007.11.012.

PMID:
18395448
45.

Type 2 myotonic dystrophy can be predicted by the combination of type 2 muscle fiber central nucleation and scattered atrophy.

Bassez G, Chapoy E, Bastuji-Garin S, Radvanyi-Hoffman H, Authier FJ, Pellissier JF, Eymard B, Gherardi RK.

J Neuropathol Exp Neurol. 2008 Apr;67(4):319-25. doi: 10.1097/NEN.0b013e31816b4acc.

PMID:
18379436
46.

DM1 CTG expansions affect insulin receptor isoforms expression in various tissues of transgenic mice.

Guiraud-Dogan C, Huguet A, Gomes-Pereira M, Brisson E, Bassez G, Junien C, Gourdon G.

Biochim Biophys Acta. 2007 Dec;1772(11-12):1183-91. Epub 2007 Sep 15.

47.

Neuromuscular excitability properties in myotonic dystrophy type 1.

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

Clin Neurophysiol. 2007 Nov;118(11):2375-82. Epub 2007 Sep 24.

PMID:
17890147
48.

Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.

Nguyen K, Bassez G, Krahn M, Bernard R, Laforêt P, Labelle V, Urtizberea JA, Figarella-Branger D, Romero N, Attarian S, Leturcq F, Pouget J, Lévy N, Eymard B.

Arch Neurol. 2007 Aug;64(8):1176-82.

PMID:
17698709
49.

Muscle satellite cells and endothelial cells: close neighbors and privileged partners.

Christov C, Chrétien F, Abou-Khalil R, Bassez G, Vallet G, Authier FJ, Bassaglia Y, Shinin V, Tajbakhsh S, Chazaud B, Gherardi RK.

Mol Biol Cell. 2007 Apr;18(4):1397-409. Epub 2007 Feb 7.

50.

140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management.

Udd B, Meola G, Krahe R, Thornton C, Ranum LP, Bassez G, Kress W, Schoser B, Moxley R.

Neuromuscul Disord. 2006 Jun;16(6):403-13. Epub 2006 May 8. No abstract available.

PMID:
16684600

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