Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 354

1.

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
2.

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.

3.

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
4.

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES.

De Ridder W, Nelson I, Asselbergh B, De Paepe B, Beuvin M, Ben Yaou R, Masson C, Boland A, Deleuze JF, Maisonobe T, Eymard B, Symoens S, Schindler R, Brand T, Johnson K, Töpf A, Straub V, De Jonghe P, De Bleecker JL, Bonne G, Baets J.

Neurol Genet. 2019 Apr 1;5(2):e321. doi: 10.1212/NXG.0000000000000321. eCollection 2019 Apr.

5.

Life-threatening lactic acidosis occurring in adults with mitochondrial disorders.

Brisset M, Béhin A, Pottier C, Jardel C, Sharshar T, Mochel F, Mallard F, Slama A, Lombès A, Eymard B, Laforêt P.

Rev Neurol (Paris). 2019 Apr 30. pii: S0035-3787(18)30805-1. doi: 10.1016/j.neurol.2018.12.004. [Epub ahead of print]

PMID:
31053354
6.

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.

7.

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
8.

FSHD1 and FSHD2 form a disease continuum.

Sacconi S, Briand-Suleau A, Gros M, Baudoin C, Lemmers RJLF, Rondeau S, Lagha N, Nigumann P, Cambieri C, Puma A, Chapon F, Stojkovic T, Vial C, Bouhour F, Cao M, Pegoraro E, Petiot P, Behin A, Marc B, Eymard B, Echaniz-Laguna A, Laforet P, Salviati L, Jeanpierre M, Cristofari G, van der Maarel SM.

Neurology. 2019 May 7;92(19):e2273-e2285. doi: 10.1212/WNL.0000000000007456. Epub 2019 Apr 12.

PMID:
30979860
9.

Expanding the spectrum of HIV-associated myopathy.

Landon-Cardinal O, Gallay L, Dubourg O, Maisonobe T, Léonard-Louis S, Beniken D, Simon A, Behin A, Stojkovic T, Duyckaerts C, Breton G, Rigolet A, Fain O, Meyohas MC, Leport C, Valantin MA, Vittecoq D, Bergmann JF, Hanslik T, Chauveheid MP, Amoura Z, de Broucker T, Eymard B, Beaudequin N, Benveniste O, Allenbach Y.

J Neurol Neurosurg Psychiatry. 2019 Apr 11. pii: jnnp-2018-319419. doi: 10.1136/jnnp-2018-319419. [Epub ahead of print] No abstract available.

PMID:
30975823
10.

[Congenital myasthenic syndromes: repurposing does not simplify access de facto - Clinical use of innovative, repurposed or off-label therapies: a real life experience (4)].

Eymard B.

Med Sci (Paris). 2019 Mar;35 Hors série n° 1:28-31. doi: 10.1051/medsci/2019022. Epub 2019 Apr 3. French. No abstract available.

PMID:
30943158
11.

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.

12.

Comprehensive evaluation of structural and functional myocardial impairments in Becker muscular dystrophy using quantitative cardiac magnetic resonance imaging.

Marty B, Gilles R, Toussaint M, Béhin A, Stojkovic T, Eymard B, Carlier PG, Wahbi K.

Eur Heart J Cardiovasc Imaging. 2019 Aug 1;20(8):906-915. doi: 10.1093/ehjci/jey209.

PMID:
30590561
13.

Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy.

Mohassel P, Landon-Cardinal O, Foley AR, Donkervoort S, Pak KS, Wahl C, Shebert RT, Harper A, Fequiere P, Meriggioli M, Toro C, Drachman D, Allenbach Y, Benveniste O, Béhin A, Eymard B, Lafôret P, Stojkovic T, Mammen AL, Bönnemann CG.

Neurol Neuroimmunol Neuroinflamm. 2018 Dec 12;6(1):e523. doi: 10.1212/NXI.0000000000000523. eCollection 2019 Jan.

14.

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.

15.

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
16.

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era.

Thompson R, Abicht A, Beeson D, Engel AG, Eymard B, Maxime E, Lochmüller H.

Orphanet J Rare Dis. 2018 Nov 26;13(1):211. doi: 10.1186/s13023-018-0955-7.

17.

Isokinetic assessment of trunk muscles in facioscapulohumeral muscular dystrophy type 1 patients.

Esnault J, Missaoui B, Bendaya S, Mane M, Eymard B, Laforet P, Stojkovic T, Behin A, Thoumie P.

Neuromuscul Disord. 2018 Dec;28(12):996-1002. doi: 10.1016/j.nmd.2018.09.007. Epub 2018 Sep 27.

PMID:
30415787
18.

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
19.

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
20.

Marathons and myasthenia gravis: a case report.

Birnbaum S, Sharshar T, Eymard B, Theaudin M, Portero P, Hogrel JY.

BMC Neurol. 2018 Sep 18;18(1):145. doi: 10.1186/s12883-018-1150-0.

21.

Non invasive mechanical ventilation in DM1: The strong correlation between lung function, neurological-cognitive function and CTG repeats.

Lofaso F, Prigent H, Annane D, Orlikowski D, Wahbi K, Laforêt P, Eymard B, Stojkovic T, Béhin A, Boussaid G.

Neuromuscul Disord. 2018 Oct;28(10):894-895. doi: 10.1016/j.nmd.2018.07.012. Epub 2018 Aug 7. No abstract available.

PMID:
30217486
22.

Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort.

Carvalho AAS, Lacene E, Brochier G, Labasse C, Madelaine A, Silva VGD, Corazzini R, Papadopoulos K, Behin A, Laforêt P, Stojkovic T, Eymard B, Fardeau M, Romero N.

Genet Test Mol Biomarkers. 2018 Jun;22(6):374-383. doi: 10.1089/gtmb.2018.0004.

PMID:
29924655
23.

Efficacy of Rituximab in Refractory Generalized anti-AChR Myasthenia Gravis.

Landon-Cardinal O, Friedman D, Guiguet M, Laforêt P, Heming N, Salort-Campana E, Jouen F, Allenbach Y, Boyer O, Chatenoud L, Eymard B, Sharshar T, Benveniste O.

J Neuromuscul Dis. 2018;5(2):241-249. doi: 10.3233/JND-180300.

PMID:
29865089
24.

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.

25.

Genotype and other determinants of respiratory function in myotonic dystrophy type 1.

Boussaïd G, Wahbi K, Laforet P, Eymard B, Stojkovic T, Behin A, Djillali A, Orlikowski D, Prigent H, Lofaso F.

Neuromuscul Disord. 2018 Mar;28(3):222-228. doi: 10.1016/j.nmd.2017.12.011. Epub 2017 Dec 26.

PMID:
29398295
26.

Childhood-onset form of myotonic dystrophy type 1 and autism spectrum disorder: Is there comorbidity?

Angeard N, Huerta E, Jacquette A, Cohen D, Xavier J, Gargiulo M, Servais L, Eymard B, Héron D.

Neuromuscul Disord. 2018 Mar;28(3):216-221. doi: 10.1016/j.nmd.2017.12.006. Epub 2017 Dec 15.

PMID:
29361396
27.

The role of electrodiagnosis with long exercise test in mcardle disease.

Semplicini C, Hézode-Arzel M, Laforêt P, Béhin A, Leonard-Louis S, Hogrel JY, Petit F, Eymard B, Stojkovic T, Fournier E.

Muscle Nerve. 2018 Jan 19. doi: 10.1002/mus.26074. [Epub ahead of print]

PMID:
29350794
28.

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.

29.

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
30.

Necrosis in anti-SRP+ and anti-HMGCR+myopathies: Role of autoantibodies and complement.

Allenbach Y, Arouche-Delaperche L, Preusse C, Radbruch H, Butler-Browne G, Champtiaux N, Mariampillai K, Rigolet A, Hufnagl P, Zerbe N, Amelin D, Maisonobe T, Louis-Leonard S, Duyckaerts C, Eymard B, Goebel HH, Bergua C, Drouot L, Boyer O, Benveniste O, Stenzel W.

Neurology. 2018 Feb 6;90(6):e507-e517. doi: 10.1212/WNL.0000000000004923. Epub 2018 Jan 12.

PMID:
29330311
31.

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.

32.

Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders.

Fayssoil A, Behin A, Ogna A, Mompoint D, Amthor H, Clair B, Laforet P, Mansart A, Prigent H, Orlikowski D, Stojkovic T, Vinit S, Carlier R, Eymard B, Lofaso F, Annane D.

J Neuromuscul Dis. 2018;5(1):1-10. doi: 10.3233/JND-170276. Review.

33.

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.

Ben Yaou R, Hubert A, Nelson I, Dahlqvist JR, Gaist D, Streichenberger N, Beuvin M, Krahn M, Petiot P, Parisot F, Michel F, Malfatti E, Romero N, Carlier RY, Eymard B, Labrune P, Duno M, Krag T, Cerino M, Bartoli M, Bonne G, Vissing J, Laforet P, Petit FM.

Neurol Genet. 2017 Dec 18;3(6):e208. doi: 10.1212/NXG.0000000000000208. eCollection 2017 Dec.

34.

Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions.

Nicole S, Azuma Y, Bauché S, Eymard B, Lochmüller H, Slater C.

J Neuromuscul Dis. 2017;4(4):269-284. doi: 10.3233/JND-170257. Review.

35.

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.

Rossi D, Palmio J, Evilä A, Galli L, Barone V, Caldwell TA, Policke RA, Aldkheil E, Berndsen CE, Wright NT, Malfatti E, Brochier G, Pierantozzi E, Jordanova A, Guergueltcheva V, Romero NB, Hackman P, Eymard B, Udd B, Sorrentino V.

PLoS One. 2017 Oct 26;12(10):e0186642. doi: 10.1371/journal.pone.0186642. eCollection 2017.

36.

Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa.

Decostre V, Laforêt P, De Antonio M, Kachetel K, Canal A, Ollivier G, Nadaj-Pakleza A, Petit FM, Wahbi K, Fayssoil A, Eymard B, Behin A, Labrune P, Hogrel JY.

Mol Genet Metab. 2017 Nov;122(3):108-116. doi: 10.1016/j.ymgme.2017.08.010. Epub 2017 Aug 30.

PMID:
28888851
37.

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.

Abath Neto O, Moreno CAM, Malfatti E, Donkervoort S, Böhm J, Guimarães JB, Foley AR, Mohassel P, Dastgir J, Bharucha-Goebel DX, Monges S, Lubieniecki F, Collins J, Medne L, Santi M, Yum S, Banwell B, Salort-Campana E, Rendu J, Fauré J, Yis U, Eymard B, Cheraud C, Schneider R, Thompson J, Lornage X, Mesrob L, Lechner D, Boland A, Deleuze JF, Reed UC, Oliveira ASB, Biancalana V, Romero NB, Bönnemann CG, Laporte J, Zanoteli E.

Neuromuscul Disord. 2017 Nov;27(11):975-985. doi: 10.1016/j.nmd.2017.05.016. Epub 2017 May 30.

PMID:
28818389
38.

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.

Bauché S, Vellieux G, Sternberg D, Fontenille MJ, De Bruyckere E, Davoine CS, Brochier G, Messéant J, Wolf L, Fardeau M, Lacène E, Romero N, Koenig J, Fournier E, Hantaï D, Streichenberger N, Manel V, Lacour A, Nadaj-Pakleza A, Sukno S, Bouhour F, Laforêt P, Fontaine B, Strochlic L, Eymard B, Chevessier F, Stojkovic T, Nicole S.

J Neurol. 2017 Aug;264(8):1791-1803. doi: 10.1007/s00415-017-8569-x. Epub 2017 Jul 15.

PMID:
28712002
39.

Erratum to: Lambert-Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer.

Schoser B, Eymard B, Datt J, Mantegazza R.

J Neurol. 2017 Sep;264(9):1864. doi: 10.1007/s00415-017-8556-2. No abstract available.

PMID:
28695360
40.

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.

Biancalana V, Scheidecker S, Miguet M, Laquerrière A, Romero NB, Stojkovic T, Abath Neto O, Mercier S, Voermans N, Tanner L, Rogers C, Ollagnon-Roman E, Roper H, Boutte C, Ben-Shachar S, Lornage X, Vasli N, Schaefer E, Laforet P, Pouget J, Moerman A, Pasquier L, Marcorelle P, Magot A, Küsters B, Streichenberger N, Tranchant C, Dondaine N, Schneider R, Gasnier C, Calmels N, Kremer V, Nguyen K, Perrier J, Kamsteeg EJ, Carlier P, Carlier RY, Thompson J, Boland A, Deleuze JF, Fardeau M, Zanoteli E, Eymard B, Laporte J.

Acta Neuropathol. 2017 Dec;134(6):889-904. doi: 10.1007/s00401-017-1748-0. Epub 2017 Jul 6.

PMID:
28685322
41.

Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease.

Papadopoulos C, Orlikowski D, Prigent H, Lacour A, Tard C, Furby A, Praline J, Solé G, Hogrel JY, De Antonio M, Semplicini C, Deibener-Kaminsky J, Kaminsky P, Eymard B, Taouagh N, Perniconi B, Hamroun D, Laforêt P; French Pompe Study Group.

Mol Genet Metab. 2017 Sep;122(1-2):80-85. doi: 10.1016/j.ymgme.2017.06.007. Epub 2017 Jun 20.

PMID:
28648663
42.

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
43.

Lambert-Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer.

Schoser B, Eymard B, Datt J, Mantegazza R.

J Neurol. 2017 Sep;264(9):1854-1863. doi: 10.1007/s00415-017-8541-9. Epub 2017 Jun 12. Review. Erratum in: J Neurol. 2017 Jul 10;:.

PMID:
28608304
44.

Risk for Complications after Pacemaker or Cardioverter Defibrillator Implantations in Patients with Myotonic Dystrophy Type 1.

Sochala M, Wahbi K, Sorbets E, Lazarus A, Bécane HM, Stojkovic T, Fayssoil A, Laforêt P, Béhin A, Sroussi M, Eymard B, Duboc D, Meune C.

J Neuromuscul Dis. 2017;4(3):175-181. doi: 10.3233/JND-170232.

PMID:
28598855
45.

Methylome and transcriptome profiling in Myasthenia Gravis monozygotic twins.

Mamrut S, Avidan N, Truffault F, Staun-Ram E, Sharshar T, Eymard B, Frenkian M, Pitha J, de Baets M, Servais L, Berrih-Aknin S, Miller A.

J Autoimmun. 2017 Aug;82:62-73. doi: 10.1016/j.jaut.2017.05.005. Epub 2017 May 24.

PMID:
28549776
46.

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
47.

The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise test.

Hogrel JY, Janssen JBE, Ledoux I, Ollivier G, Béhin A, Stojkovic T, Eymard B, Voermans NC, Laforet P.

J Clin Pathol. 2017 Oct;70(10):896-898. doi: 10.1136/jclinpath-2017-204324. Epub 2017 Apr 11.

PMID:
28400468
48.

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.

Cerino M, Gorokhova S, Laforet P, Ben Yaou R, Salort-Campana E, Pouget J, Attarian S, Eymard B, Deleuze JF, Boland A, Behin A, Stojkovic T, Bonne G, Levy N, Bartoli M, Krahn M.

Muscle Nerve. 2017 Nov;56(5):993-997. doi: 10.1002/mus.25638. Epub 2017 Apr 7.

PMID:
28256728
49.

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
50.

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

Supplemental Content

Loading ...
Support Center