Maladies neuromusculaires

– Appropriate timing of electrophysiological study in myotonic dystrophy type 1: unsolved question.
Vincenzo Russo, Karim Wahbi
Europace, 2022 Jul 15, PMID: 34931223 DOI: 10.1093/europace/euab311

– Improved Cardiac Outcomes by Early Treatment with Angiotensin-Converting Enzyme Inhibitors in Becker Muscular Dystrophy.
Stalens C, Motté L, Béhin A, Ben Yaou R, Leturcq F, Bassez G, Laforêt P, Fontaine B, Ederhy S, Masingue M, Saadi M, Louis SL, Berber N, Stojkovic T, Duboc D, Wahbi K.
J Neuromuscul Dis, 2021 Mar 29, PMID: 33814458 DOI: 10.3233/JND-200620

– Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data.
Porcher R, Desguerre I, Amthor H, Chabrol B, Audic F, Rivier F, Isapof A, Tiffreau V, Campana-Salort E, Leturcq F, Tuffery-Giraud S, Ben Yaou R, Annane D, Amédro P, Barnerias C, Bécane HM, Béhin A, Bonnet D, Bassez G, Cossée M, de La Villéon G, Delcourte C, Fayssoil A, Fontaine B, Godart F, Guillaumont S, Jaillette E, Laforêt P, Leonard-Louis S, Lofaso F, Mayer M, Morales RJ, Meune C, Orlikowski D, Ovaert C, Prigent H, Saadi M, Sochala M, Tard C, Vaksmann G, Walther-Louvier U, Eymard B, Stojkovic T, Ravaud P, Duboc D, Wahbi K.
Eur Heart J, 2021 Mar 22, PMID: 33748842 DOI: 10.1093/eurheartj/ehab054

– Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy.
de Feraudy Y, Ben Yaou R, Wahbi K, Stalens C, Stantzou A, Laugel V, Desguerre I; FILNEMUS Network, Servais L, Leturcq F, Amthor H.
Ann Neurol, 2021 Feb, PMID: 33159473 PMCID: PMC7894170 DOI: 10.1002/ana.25951

– Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects.
Édouard Berling, Pascal Laforêt, Karim Wahbi, Philippe Labrune, François Petit, Giuseppe Ronzitti, Alan O’Brien
J Inherit Metab Dis, 2021 May, PMID: 33368379 DOI: 10.1002/jimd.12355

– Cardiovascular complications of lipodystrophic syndromes – focus on laminopathies.
Helena Mosbah, Camille Vatier, Franck Boccara, Isabelle Jéru, Marie-Christine Vantyghem, Bruno Donadille, Karim Wahbi, Corinne Vigouroux
Ann Endocrinol (Paris), 2021 Jun, PMID: 32201029 DOI: 10.1016/j.ando.2020.03.002

– Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies.
R Guimarães-Costa, G Fernández-Eulate, K Wahbi, F Leturcq, E Malfatti, A Behin, S Leonard-Louis, I Desguerre, C Barnerias, M C Nougues, A Isapof, B Estournet-Mathiaud, S Quijano-Roy 6, A Fayssoil, D Orlikowski, B Fauroux, I Richard, C Semplicini, N B Romero, G Querin, B Eymard, P Laforêt, T Stojkovic
Eur J Neurol, 2021 Feb, PMID: 33051934 DOI: 10.1111/ene.14592

– Sudden Cardiac Arrest in Young Women.
Orianne Weizman, Ardalan Sharifzadehgan, Wulfran Bougouin, Kumar Narayanan, Noémie Tence, Florence Dumas, Victor Waldmann, Lionel Lamhaut
Circulation, 2021 Feb 16, PMID: 33587656 DOI: 10.1161/CIRCULATIONAHA.120.052219

– Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy.
Maria A Restrepo-Cordoba, Karim Wahbi, Anca R Florian, Juan Jiménez-Jáimez, Luisa Politano, Michael Arad, Vicente Climent-Paya, Ana Garcia-Alvarez, Rasmus B Hansen, José M Larrañaga-Moreira, Milos Kubanek, Luis R Lopes, Andrea Ros, Ruxandra Jurcut, Torsten B Rasmussen, Luis Ruiz-Guerrero et al.
Eur J Heart Fail, 2021 Aug, PMID: 34050592 DOI: 10.1002/ejhf.2250

– Leadless intracardiac transcatheter pacing system: 20 months follow up in adult Duchenne muscular dystrophy.
Abdallah Fayssoil, Arnaud Lazarus, Karim Wahbi, Bernard Clair, Nicolas Mansencal, David Orlikowski
Neuromuscul Disord, 2021 Sep, PMID: 34391632 DOI: 10.1016/j.nmd.2021.06.008

– Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies.
R Guimarães-Costa, G Fernández-Eulate, K Wahbi, F Leturcq, E Malfatti, A Behin, S Leonard-Louis, I Desguerre, C Barnerias, M C Nougues, A Isapof, B Estournet-Mathiaud, S Quijano-Ro, A Fayssoil, D Orlikowski et al.
Eur J Neurol, 2021 Feb, PMID: 33051934 DOI: 10.1111/ene.14592

– Cardiovascular manifestations of myotonic dystrophy
Karim Wahbi , Denis Furling
Trends Cardiovasc Med, 2020 May, PMID: 31213350 DOI: 10.1016/j.tcm.2019.06.001

– A high prevalence of arterial hypertension in patients with mitochondrial diseases
Caroline Chong-Nguyen, Caroline Stalens, Yves Goursot, Wulfran Bougouin, Tanya Stojkovic, Anthony Béhin, Fanny Mochel, Nawal Berber, Bruno Eymard, Denis Duboc, Pascal Laforêt, Karim Wahbi
J Inherit Metab Dis, 2020 May, PMID: 31762033 DOI: 10.1002/jimd.12195

– Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases.
Constantinos Papadopoulos, Karim Wahbi, Anthony Behin, Wulfran Bougouin, Tanya Stojkovic, Sarah Leonard-Louis, Nawal Berber, Anne Lombès, Denis Duboc, Claude Jardel, Bruno Eymard, Pascal Laforêt
J Inherit Metab Dis, 2020 May, PMID: 31652339 DOI: 10.1002/jimd.12185

– Clinical Care Recommendations for Cardiologists Treating Adults With Myotonic Dystrophy.
Elizabeth M McNally, Douglas L Mann, Yigal Pinto, Deepak Bhakta, Gordon Tomaselli, Saman Nazarian, William J Groh, Takuhisa Tamura, Denis Duboc, Hideki Itoh, Leah Hellerstein, Pradeep P A Mammen
J Am Heart Assoc, 2020 Feb 18, PMID: 32067592 PMCID: PMC7070199 DOI: 10.1161/JAHA.119.014006

– Looking at New Unexpected Disease Targets in  <i>LMNA</i>-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice.
Héléna Mosbah, Camille Vatier, Franck Boccara, Isabelle Jéru, Olivier Lascols, Marie-Christine Vantyghem, Bruno Fève, Bruno Donadille, Elisabeth Sarrazin, Sophie Benabbou, Jocelyn Inamo, Stéphane Ederhy, Ariel Cohen, Barbara Neraud, Pascale Richard, Fabien Picard, Sophie Christin-Maitre, Alban Redheuil, Karim Wahbi, Corinne Vigouroux
Cells, 2020 Mar 20, PMID: 32245113 PMCID: PMC7140635 DOI: 10.3390/cells9030765

– The French national protocol for Kennedy »s disease (SBMA): consensus diagnostic and management recommendations.
Pierre-François Pradat, Emilien Bernard, Philippe Corcia, Philippe Couratier, Christel Jublanc, Giorgia Querin, Capucine Morélot Panzini, François Salachas, Christophe Vial, Karim Wahbi, Peter Bede & Claude Desnuelle on behalf of the French Kennedy’s Disease Writing Group
Orphanet J Rare Dis, 2020 Apr 10, PMID: 32276665 PMCID: PMC7149864 DOI: 10.1186/s13023-020-01366-z

– Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network.
G Solé, E Salort-Campana, Y Pereon, T Stojkovic, K Wahbi, P Cintas, D Adams, P Laforet, V Tiffreau, I Desguerre, L I Pisella, A Molon, S Attarian, FILNEMUS COVID-19 study group
Rev Neurol (Paris), 2020 Jun, PMID: 32354651 PMCID: PMC7167585 DOI: 10.1016/j.neurol.2020.04.004

– 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, PMID: 31155932, DOI: 10.1161/CIRCULATIONAHA.118.039410

– 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, PMID: 30354391 DOI: 10.1161/CIRCULATIONAHA.118.035035

– 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, PMID: 29404559 PMCID: PMC5885178 DOI: 10.1001/jamaneurol.2017.4778

– Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy.
Le Guiner C, Servais L, Montus M, Larcher T, Fraysse B, Moullec S, Allais M, François V, Dutilleul M, Malerba A, Koo T, Thibaut JL, Matot B, Devaux M, Le Duff J, Deschamps JY, Barthelemy I, Blot S, Testault I, Wahbi K, Ederhy S, Martin S, Veron P, Georger C, Athanasopoulos T, Masurier C, Mingozzi F, Carlier P, Gjata B, Hogrel JY, Adjali O, Mavilio F, Voit T, Moullier P, Dickson G.
Nat Commun, 2017 Jul 25, PMID: 28742067 PMCID: PMC5537486 DOI: 10.1038/ncomms16105

– Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1.
Wahbi K, Babuty D, Probst V, Wissocque L, Labombarda F, Porcher R, Bécane HM, Lazarus A, Béhin A, Laforêt P, Stojkovic T, Clementy N, Dussauge AP, Gourraud JB, Pereon Y, Lacour A, Chapon F, Milliez P, Klug D, Eymard B, Duboc D.
Eur Heart J, 2017 Mar 7, PMID: 27941019 DOI: 10.1093/eurheartj/ehw569

– Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases.
Wahbi K, Bougouin W, Béhin A, Stojkovic T, Bécane HM, Jardel C, Berber N, Mochel F, Lombès A, Eymard B, Duboc D, Laforêt P.
Eur Heart J, 2015 Nov 7, PMID: 26224072 DOI: 10.1093/eurheartj/ehv307

– Electrophysiological study with prophylactic pacing and survival in adults with myotonic dystrophy and conduction system disease.
Wahbi K, Meune C, Porcher R, Bécane HM, Lazarus A, Laforêt P, Stojkovic T, Béhin A, Radvanyi-Hoffmann H, Eymard B, Duboc D.
JAMA, 2012 Mar 28, PMID: 22453570 DOI: 10.1001/jama.2012.346