Recent publications

  • An embryonic CaVβ1 isoform promotes muscle mass maintenance via GDF5 signaling in adult mouse. Traoré M, Gentil C, Benedetto C, Hogrel JY, De la Grange P, Cadot B, Benkhelifa-Ziyyat S, Julien L, Lemaitre M, Ferry A, Piétri-Rouxel F, Falcone S. Sci Trans Med, 11(517):eaaw1131, 2019.
  • 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 Dec;266(12):2987-2996.
  • Whole-body muscle magnetic resonance imaging in glycogen-storage disease type III. Tobaly D, Laforêt P, Perry A, Habes D, Labrune P, Decostre V, Masingue M, Petit F, Barp A, Bello L, Carlier P, Carlier RY. Muscle Nerve, 2019 Jul;60(1):72-79.
  • Large variation in effects during 10-years of enzyme-therapy in adults with Pompe disease. Harlaar L, Hogrel JY, Perniconi BP, Kruijshaar ME, Rizopoulos D, Taouagh N, Canal A, Brusse E, van Doorn PA, van der Ploeg AT, Laforêt P, van der Beek NAME. Neurology 2019 Nov 5;93(19):e1756-e1767.
  • ENMC workshop study group. 237th ENMC International Workshop: GNE myopathy – current and future research Hoofddorp, The Netherlands, 14-16 September 2018. Pogoryelova O, Urtizberea JA, Argov Z, Nishino I, Lochmüller H, Neuromuscul Disord. 29:401-410, 2019.
  • Hyperammonaemia following exercise may also reveal PGK1 deficiency. Hogrel JY, Ledoux I, Béhin A. J Clin Pathol, 72(6):452, 2019.
  • Ricotti V, Selby V, Ridout D, Domingos J, Decostre V, Mayhew A, Eagle M, Butler J, Guglieri M, Van der Holst M, Jansen M, Verschuuren JJGM, de Groot I, Niks E, Servais L, Straub V, Voit T, Hogrel JY, Muntoni F. Respiratory and upper limb outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: a prospective multicentre study. Neuromuscul Dis, 29(4):261-268, 2019.

  • Diaphragm shear modulus reflects transdiaphragmatic pressure during isovolumetric inspiratory efforts and ventilation against inspiratory loading. Bachasson D, Dres M, Niérat MC, Gennisson JL, Hogrel JY, Doorduin J, Similowski T. J App Physiol, 126(3):699-707, 2019.

  • X-linked Myotubular Myopathy: A prospective international natural history study. Annoussamy M, Lilien C, Gidaro T, Gargaun E, Chê V, Schara U, Gangfuß A, D’Amico A, Dowling JJ, Darras BT, Daron A, Hernandez A, de Lattre C, Arnal JM, Mayer M, Cuisset JM, Vuillerot C, Fontaine S, Bellance R, Biancalana V, Buj-Bello A, Hogrel JY, Landy H, Servais L. Neurology, 92:e1852-e1867, 2019.

  • Association of interleukin-6 rs1800796 polymorphism with reduced cognitive performance in healthy older adults. Bezuch NE, Bradburn S, Sipilä S, Pääsuke M, Gapeyeva H, Maier AB, Hogrel JY, Barnouin Y, Butler-Browne G, Narici M, McPhee J, Murgatroyd C. Meta Gene, 19:51-55, 2019.
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Assessment of disease progression in dysferlinopathy – a one year cohort study. Moore U, Jacobs M, James MK, Mayhew AG, Fernandez-Torron R, Feng J, Cnaan A, Eagle M, Bettinson K, Rufibach LE, Muni Lofra R, Blamire AM, Carlier PG, Mittal P, Pax Lowes L, Alfano L, Rose K, Duong T, Berry KM, Montiel-Morillo E, Pedrosa-Hernández I, Holsten S, Sanjak M, Ashida A, Sakamoto C, Tateishi T, Yajima H, Canal A, Ollivier G, Decostre V, Bosco Mendez J, Sánchez-Aguilera Praxedes N, Thiele S, Siener C, Shierbecker J, Florence JM, Vandevelde B, DeWolf B, Hutchence M, Gee R, Prugel J, Maron E, Hilsden H, Lochmüller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E , Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Díaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V, for the Jain COS Consortium. Neurology, 92:e461-e474, 2019.

  • The clinical and radiological landscape of adult spinal-muscular atrophy: a combined spinal and cerebral neuroimaging study. Querin G, El Mendili MM, Lenglet T, Behin A, Stojkovic T, Salachas F, Le Forestier N, del Mar Amador M, Debs R, Meininger V, Bruneteau G, Lehéricy S, Laforêt P, Blancho S, Benali H, Catala M, Marchand-Pauvert V, Hogrel JY, Bede P, Pradat PF. Neuroimage Clin, 21:101618, 2019.
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Gagnon C, Heatwole C, Hébert LJ, Hogrel JY, Laberge L, Leone M, Meola G, Richer L, Sansone V, Kierkegaard M. Report of the third outcome measures in myotonic dystrophy type 1 (OMMYD-3) international workshop Paris, France, June 8, 2015. J Neuromuscul Dis, 5(4):523-537, 2018.
  • The motor unit number index (MUNIX) profile of patients with adult spinal muscular atrophy. Querin G, Lenglet T, Debs R, Stojkovic T, Behin A, Salachas F, Le Forestier N, Amador MDM, Lacomblez L, Meininger V, Bruneteau G, Laforêt P, Blancho S, Marchand-Pauvert V, Bede P, Hogrel JY, Pradat PF. Clin Neurophysiol. 2018 Sep 13;129(11):2333-2340. doi: 10.1016/j.clinph.2018.08.025. [Epub ahead of print]
  • 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.
  • 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 Aug 29. doi: 10.1093/brain/awy231. [Epub ahead of print]
  • Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study. Semplicini C, Letard P, De Antonio M, Taouagh N, Perniconi B, Bouhour F, Echaniz-Laguna A, Orlikowski D, Sacconi S, Salort-Campana E, Solé G, Zagnoli F, Hamroun D, Froissart R, Caillaud C, Laforêt P; French Pompe Study Group. J Inherit Metab Dis. 2018 Aug 28. doi: 10.1007/s10545-018-0243-7. [Epub ahead of print]
  • 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, 141(10):2855-2865, 2018.
  • Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study. Chabanon A, Seferian AM, Daron A, Péréon Y, Cances C, Vuillerot C, De Waele L, Cuisset JM, Laugel V, Schara U, Gidaro T, Gilabert S, Hogrel JY, Baudin PY, Carlier P, Fournier E, Lowes LP, Hellbach N, Seabrook T, Toledano E, Annoussamy M, Servais L; NatHis-SMA study group. PLoS One. 2018 Jul 26;13(7):e0201004. doi: 10.1371/journal.pone.0201004. eCollection 2018.
  • Ankle strength impairments in myotonic dystrophy type 1: a five-year follow-up. Hébert LJ, Vial C, Hogrel JY, Puymirat J. J Neuromusc Dis, 5(3):321-330, 2018.
  • Handgrip Strength Cannot Be Assumed a Proxy for Overall Muscle Strength. Yeung SSY, Reijnierse EM, Trappenburg MC, Hogrel JY, McPhee JS, Piasecki M, Sipila S, Salpakoski A, Butler-Browne G, Pääsuke M, Gapeyeva H, Narici MV, Meskers CGM, Maier AB. J Am Med Dir Assoc. 2018 Aug;19(8):703-709. doi: 10.1016/j.jamda.2018.04.019. Epub 2018 Jun 20.
  • Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials. Diaz-Manera J, Fernandez-Torron R, LLauger J, James MK, Mayhew A, Smith FE, Moore UR, Blamire AM, Carlier PG, Rufibach L, Mittal P, Eagle M, Jacobs M, Hodgson T, Wallace D, Ward L, Smith M, Stramare R, Rampado A, Sato N, Tamaru T, Harwick B, Rico Gala S, Turk S, Coppenrath EM, Foster G, Bendahan D, Le Fur Y, Fricke ST, Otero H, Foster SL, Peduto A, Sawyer AM, Hilsden H, Lochmuller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V; Jain COS Consortium. J Neurol Neurosurg Psychiatry. 2018 Oct;89(10):1071-1081. doi: 10.1136/jnnp-2017-317488. Epub 2018 May 7.
  • Muscle Shear Wave Elastography in Inclusion Body Myositis: Feasibility, Reliability and Relationships with Muscle Impairments. Bachasson D, Dubois GJR, Allenbach Y, Benveniste O, Hogrel JY. Ultrasound Med Biol. 2018 Jul;44(7):1423-1432. doi: 10.1016/j.ultrasmedbio.2018.03.026. Epub 2018 Apr 26.
  • Update on outcome assessment in myositis. Rider LG, Aggarwal R, Machado PM, Hogrel JY, Reed AM, Christopher-Stine L, Ruperto N. Nat Rev Rheumatol. 2018 May;14(5):303-318. doi: 10.1038/nrrheum.2018.33. Epub 2018 Apr 12. Review.
  • The Anisotropic Degree Index: a novel parameter to estimate muscle quality based on B-mode ultrasound images. Dubois GJR, Bachasson D, Lacourpaille L, Benveniste O, Hogrel JY. Ultrasound Med Biol. 2018 May;44(5):1133-1140. doi: 10.1016/j.ultrasmedbio.2017.12.017. Epub 2018 Feb 7.
  • Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study. Moore UR, Jacobs M, Fernandez-Torron R, Jang J, James MK, Mayhew A, Rufibach L, Mittal P, Eagle M, Cnaan A, Carlier PG, Blamire A, Hilsden H, Lochmüller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Diaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V. J Neurol Neurosurg Psychiatry. 2018 Jan 29. pii: jnnp-2017-317329. doi: 10.1136/jnnp-2017-317329. [Epub ahead of print] No abstract available.
  • 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]
  • 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.
  • Dysregulation of C-X-C motif ligand 10 during aging and association with cognitive performance. Bradburn S, McPhee J, Bagley L, Carroll M, Slevin M, Al-Shanti N, Barnouin Y, Hogrel JY, Pääsuke M, Gapeyeva H, Maier A, Sipilä S, Narici M, Robinson A, Mann D, Payton A, Pendleton N, Butler-Browne G, Murgatroyd C. Neurobiol Aging. 2018 Mar;63:54-64. doi: 10.1016/j.neurobiolaging.2017.11.009. Epub 2017 Nov 23.
  • A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-termoutcome. Schiffmann R, Wallace ME, Rinaldi D, Ledoux I, Luton MP, Coleman S, Akman HO, Martin K, Hogrel JY, Blankenship D, Turner J, Mochel F. J Inherit Metab Dis. 2018 Sep;41(5):877-883. doi: 10.1007/s10545-017-0103-x. Epub 2017 Nov 6.
  • Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations. Tosserams A, Papadopoulos C, Jardel C, Lemière I, Romero NB, De Lonlay P, Wahbi K, Voermans N, Hogrel JY, Laforêt P. Mitochondrion. 2018 Mar;39:26-29. doi: 10.1016/j.mito.2017.08.009. Epub 2017 Aug 18.
  • Physical Activity Monitoring: A Promising Outcome Measure in Idiopathic Inflammatory Myopathies. Bachasson D, Landon-Cardinal O, Benveniste O, Hogrel JY, Allenbach Y. Neurology, 2017 Jul 4;89(1):101-103. doi: 10.1212/WNL.0000000000004061.
  • The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise test. Hogrel JY, Janssen JB, 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.
  • Measuring Habitual Physical Activity in Neuromuscular Disorders: A Systematic Review. Jimenez-Moreno AC, Newman J, Charman SJ, Catt M, Trenell MI, Gorman GS, Hogrel JY, Lochmüller H. J Neuromuscul Dis. 2017;4(1):25-52. doi: 10.3233/JND-160195.
  • 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, M. Petit FM, Wahbi K, Fayssoil A, Eymard B, Behin A, Labrune P, Hogrel JY. Mol Genet Metab, 122:108-116, 2017.
  • 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, the French Pompe Study Group. Mol Genet Metab, 122(1-2):80-85, 2017.
  • Circulating levels of Dickkopf-1, Osteoprotegerin and sclerostin are higher in old compared with young men and women and positively associated with whole-body bone mineral density in older adults.Coulson J, Bagley L, Barnouin Y, Bradburn S, Butler-Browne G, Gapeyeva H, Hogrel JY, Maden-Wilkinson T, Maier AB, Meskers C, Murgatroyd C, Narici M, Pääsuke M, Sassano S, Sipilä S, AL-Shanti N, Stenroth L, Jones DA, S McPhee JS.  Osteoporesis Int, 28(9):2683-2689, 2017.
  • 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 PG, Gjata B, Hogrel JY, Adjali O, Mavilio F, Voit T, Moullier P, Dickson G. Nat Comm, 8:16105, 2017.
  • Biomarkers predict outcome in Charcot Marie Tooth Disease 1A. Fledrich R, Mannil M, Leha Andreas, Ehbrecht C, Solari A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Schnizer T, Prukop T, Garcia-Angarita N, Czesnik D, Haberlová J, Mazanec R, Paulus W, Walter M, Hogrel JY, Dubourg O, Schenone A, Baets J, de Jonghe P, Shy M, Horvath Rita, Pareyson D, Seeman P, Young P, Sereda MW. J Neurol Neurosurg Psychiatry, 88(11):941-952, 2017.
  • Physical Activity Monitoring: A Promising Outcome Measure in Idiopathic Inflammatory Myopathies. Bachasson D, Landon-Cardinal O, Benveniste O, Hogrel JY, Allenbach Y. Neurology, 89(1):101-103, 2017.
  • The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise test. Hogrel JY, Janssen JB, Ledoux I, Ollivier G, Béhin A, Stojkovic T, Eymard B, Voermans NC, Laforet P.  J Clin Pathol, 70(10):896-898, 2017.
  • Gait characterization in golden retriever muscular dystrophy dogs using linear discriminant analysis.Fraysse B, Barthélémy I, Qannari EM, Rouger K, Thorin C, Blot S, Le Guiner C, Chérel Y, Hogrel JY.  BMC Musculoskelet Disord, 18:153, 2017.
  •  First International Workshop on Clinical trial readiness for sarcoglycanopathies, November 15 – 16, 2016 Evry, France. Jimenez-Moreno AC, Newman J, Charman SJ, Catt M, Trenell MI, Gorman GS, Hogrel JY, Lochmüller H. Measuring Habitual Physical Activity in Neuromuscular Disorders: A Systematic Review. J Neuromuscul Dis, 4:25-52, 2017.
    Marsolier J, Laforet P, Pegoraro E, Vissing J, Richard I and the Sarcoglycanopathies working group. Neuromuscul Dis, 27:683-692, 2017.
  • Coupling between skeletal muscle fiber size and capillarization is maintained during healthy aging. Barnouin Y, McPhee, JS, Butler-Browne G, Bosutti A, De Vito G, Narici M, Behin A, Hogrel JY, Degens H. J Cachex Sarcop Muscle, 8(4):647-659, 2017.
  • Effects of Duchenne muscular dystrophy on muscle stiffness and response to electrically-induced muscle contraction: a 12-month follow-up. Lacourpaille L, Gross R, Hug F, Guével A, Pereon Y, Magot A, Hogrel JY, Nordez A. Neuromuscul Dis, 27:214-220, 2017.
  • Systemic AAV8-mediated gene therapy drives whole-body correction of myotubular myopathy in dogs. Mack DL, Poulard K, Goddard M, Latournerie V, Snyder JM, Grange RW, Elverman MR, Denard J, Veron P, Buscara L, Le Bec C, Hogrel JY, Doering J, Meng H, Yang L, Liu F, O’Callaghan M, Gopal N, Kelly1 VE, Smith BK, Strande JL, Mavilio F, Beggs AH, Mingozzi F, Lawlor MW, Buj-Bello A, Childers MK. Mol Ther, 25:839-854, 2017.
  • Assessment of maximal handgrip strength: how many attempts are needed? Reijnierse EM, de Jong N, C. Trappenburg MC, Blauw GJ, Butler-Browne G, Gapeyeva H, Hogrel JY, McPhee JS, Narici MV, Sipilä S, Stenroth L, van Lummel RC, Pijnappels M, Meskers CGM, Maier AB. J Cachex Sarcop Muscle, 8(3):466-474, 2017.
  • Translation, cross-cultural adaptation, and validation of the french version of the 15-item Myasthenia Gravis Quality Of life scale. Birnbaum S, Ghout I, Demeret S, Bolgert F, Eymard B, Sharshar T, Portero P, Hogrel JY. Muscle Nerve. 2017 May;55(5):639-645. doi: 10.1002/mus.25381. Epub 2017 Jan 3.