Publications

L’ensemble des activités de l’équipe d’I-Motion : essais cliniques, mise au point d’outils d’évaluation, diagnostic et prise en charge des patients donnent lieu à de nombreuses publications dans des revues scientifiques et médicales de premier plan.

Publications de l’équipe :

2021

• Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study. Annoussamy M, Seferian AM, Daron A, Péréon Y, Cances C, Vuillerot C, De Waele L, Laugel V, Schara U, Gidaro T, Lilien C, Hogrel JY, Carlier P, Fournier E, Lowes L, Gorni K, Ly-Le Moal M, Hellbach N, Seabrook T, Czech C, Hermosilla R, Servais L; NatHis-SMA study group.
  Ann Clin Transl Neurol. 2021 Feb;8(2):359-373.
• Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy. Fouarge E, Monseur A, Boulanger B, Annoussamy M, Seferian AM, De Lucia S, Lilien C, Thielemans L, Paradis K, Cowling BS, Freitag C, Carlin BP, Servais L; NatHis-MTM Study Group.
  Orphanet J Rare Dis. 2021 Jan 6;16(1):3.

2020

• [Tracheotomy in children with neuromuscular diseases and regular schooling: are they compatible?]. Bonraisin L, Destremaut C, Lagrue E.
  Med Sci (Paris). 2020 Dec;36 Hors série n° 2:34-37. doi: 10.1051/medsci/2020208. Epub 2021 Jan 11.
• The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series. Villar-Quiles RN, von der Hagen M, Métay C, Gonzalez V, Donkervoort S, Bertini E, Castiglioni C, Chaigne D, Colomer J, Cuadrado ML, de Visser M, Desguerre I, Eymard B, Goemans N, Kaindl A, Lagrue E, Lütschg J, Malfatti E, Mayer M, Merlini L, Orlikowski D, Reuner U, Salih MA, Schlotter-Weigel B, Stoetter M, Straub V, Topaloglu H, Urtizberea JA, van der Kooi A, Wilichowski E, Romero NB, Fardeau M, Bönnemann CG, Estournet B, Richard P, Quijano-Roy S, Schara U, Ferreiro A.
  Neurology. 2020 Sep 15;95(11):e1512-e1527.
• Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study. Audic F, de la Banda MGG, Bernoux D, Ramirez-Garcia P, Durigneux J, Barnerias C, Isapof A, Cuisset JM, Cances C, Richelme C, Vuillerot C, Laugel V, Ropars J, Altuzarra C, Espil-Taris C, Walther-Louvier U, Sabouraud P, Chouchane M, Vanhulle C, Trommsdorff V, Pervillé A, Testard H, Lagrue E, Sarret C, Avice AL, Beze-Beyrie P, Pauly V, Quijano-Roy S, Chabrol B, Desguerre I.
  Orphanet J Rare Dis. 2020 Jun 12;15(1):148.

2019

• Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps. Gidaro T, Servais L.
  Dev Med Child Neurol. 2019 Jan;61(1):19-24. doi: 10.1111/dmcn.14027. Epub 2018 Sep 17.
• 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.
• 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. 2019 Apr 16;92(16):e1852-e1867
• Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study. 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 IJM, Niks EH, Servais L, Straub V, Voit T, Hogrel JY, Muntoni F.
  Neuromuscul Disord. 2019 Apr;29(4):261-268.
• 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.
• 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.
• 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. 2019 Apr 16;92(16):e1852-e1867
• Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study. 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 IJM, Niks EH, Servais L, Straub V, Voit T, Hogrel JY, Muntoni F.
  Neuromuscul Disord. 2019 Apr;29(4):261-268.
• 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.

2018

• Nusinersen in spinal muscular atrophy type 1 patients older than 7 months: A cohort study. Aragon-Gawinska K, Seferian AM, Daron A, Gargaun E, Vuillerot C, Cances C, Ropars J, Chouchane M, Cuppen I, Hughes I, Illingworth M, Marini-Bettolo C, Rambaud J, Taytard J, Annoussamy M, Scoto M, Gidaro T, Servais L.
  Neurology. 2018 Aug 29.
• Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS; CHERISH Study Group.
  N Engl J Med. 2018 Feb 15.
• 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.
• 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 May 7.
• 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.
• 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.
• Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients. Catapano F, Domingos J, Perry M, Ricotti V, Phillips L, Servais L, Seferian A, Groot I, Krom YD, Niks EH, Verschuuren JJ, Straub V, Voit T, Morgan J, Muntoni F.
  Epigenomics. 2018 Jul;10(7):875-889
• High urinary ferritin reflects myoglobin iron evacuation in DMD patients. Rouillon J, Lefebvre T, Denard J, Puy V, Daher R, Ausseil J, Zocevic A, Fogel P, Peoc’h K, Wong B, Servais L, Voit T, Puy H, Karim Z, Svinartchouk F.
  Neuromuscul Disord. 2018 Jul.
• RNA-Seq Analysis of an Antisense Sequence Optimized for Exon Skipping in Duchenne Patients Reveals No Off-Target Effect. Domenger C, Allais M, François V, Léger A, Lecomte E, Montus M, Servais L, Voit T, Moullier P, Audic Y, Le Guiner C.
  Mol Ther Nucleic Acids. 2018 Mar 2.
• An integrated modelling methodology for estimating the prevalence of centronuclear myopathy. Vandersmissen I, Biancalana V, Servais L, Dowling JJ, Vander Stichele G, Van Rooijen S, Thielemans L.
  Neuromuscul Disord. 2018 Sep;28(9):766-777.
• STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Zaharieva I, Sarkozy A, Munot P, Manzur A, O’Grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Neto OA, Zanoteli E, Donkervoort S, Taylor J, Dixon J, Poke G, Foley AR, Holmes C, Williams G, Holder M, Yum S, Medne L, Quijano-Roy S, Romero NB, Fauré J, Feng L, Bastaki L, Davis MR, Phadke R, Sewry CA, Bönnemann CG, Jungbluth H, Bachmann C, Treves S, Muntoni F.
  Hum Mutat. 2018 Dec;39(12):1980-1994.
• [Outcomes measures used in clinical trials in neuromuscular diseases] Boussaïd G, Vuillerot C, Pisco Domingos J, Dany A, Ricci E, Servais L, Constant Boyer F.
  Med Sci (Paris). 2018 Nov;34 Hors série n°2:49-50.
• Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study. Aragon-Gawinska K, Seferian AM, Daron A, Gargaun E, Vuillerot C, Cances C, Ropars J, Chouchane M, Cuppen I, Hughes I, Illingworth M, Marini-Bettolo C, Rambaud J, Taytard J, Annoussamy M, Scoto M, Gidaro T, Servais L.
  Neurology. 2018 Oct 2;91(14):e1312-e1318. doi: 10.1212/WNL.0000000000006281.
• 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.

2017

• Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group.
  N Engl J Med. 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752.
• Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches. Mariot V, Joubert R, Hourdé C, Féasson L, Hanna M, Muntoni F, Maisonobe T, Servais L, Bogni C, Le Panse R, Benvensite O, Stojkovic T, Machado PM, Voit T, Buj-Bello A, Dumonceaux J.
  Nat Commun. 2017 Nov 30.
• 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.
• 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;8:16105. doi: 10.1038/ncomms16105.
• Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy. Sicot G, Servais L, Dinca DM, Leroy A, Prigogine C, Medja F, Braz SO, Huguet-Lachon A, Chhuon C, Nicole A, Gueriba N, Oliveira R, Dan B, Furling D, Swanson MS, Guerrera IC, Cheron G, Gourdon G, Gomes-Pereira M.
  Cell Rep. 2017 Jun 27;19(13):2718-2729. doi: 10.1016/j.celrep.2017.06.006.
• DMD and West syndrome. Cardas R, Iliescu C, Butoianu N, Seferian A, Gataullina S, Gargaun E, Nectoux J, Bienvenu T, Craiu D, Gidaro T, Servais L.
  Neuromuscul Disord. 2017 Oct;27(10):911-913. doi: 10.1016/j.nmd.2017.07.008. Epub 2017 Jul 19.
• Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot-Marie-Tooth disease type 2 phenotype. Anghelescu C, Francou B, Cardas R, Guiochon-Mantel A, Aubourg P, Servais L, Gidaro T.
  Eur J Neurol. 2017 Mar;24(3):e15-e16. doi: 10.1111/ene.13250.
• Improved Muscular Weakness During Asthma Exacerbation. Delstanche S, Servais L, Gidaro T.
  JAMA Neurol. 2017 Mar 1;74(3):353-354. doi: 10.1001/jamaneurol.2016.4069.

2016

•  Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy. McDonald CM, Meier T, Voit T, Schara U, et al.; DELOS Study Group.
  Neuromuscul Disord. 2016 Aug
• Development of a patient-reported outcome measure for upper limb function in Duchenne muscular dystrophy: DMD Upper Limb PROM. Klingels K, Mayhew AG, Mazzone ES, et al.; Upper Limb Clinical Outcome Group.
  Dev Med Child Neurol. 2016 Sep 26. doi: 10.1111/dmcn.13277.
• A Movement Monitor Based on Magneto-Inertial Sensors for Non-Ambulant Patients with Duchenne Muscular Dystrophy: A Pilot Study in Controlled Environment. Le Moing AG, Seferian AM, Moraux A, et al.
  PLoS One. 2016 Jun 7;11(6):e0156696. doi: 10.1371/journal.pone.0156696. eCollection 2016.
• 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, et al.
  Neuromuscul Disord. 2016 Jul;26(7):428-35. doi: 10.1016/j.nmd.2016.05.009. Epub 2016 May 12.
• Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy. Hogrel JY, Wary C, Moraux A, et al.
  Neurology. 2016 Mar 15;86(11):1022-30. Epub 2016 Feb 17.
• How robust is ACTIVLIM for the follow-up of activity limitations in patients with neuromuscular diseases? Batcho CS, Van den Bergh PY, Van Damme P, et al.; BNMDR Scientific Committee.
  Neuromuscul Disord. 2016 Mar;26(3):211-20. doi: 10.1016/j.nmd.2015.12.004. Epub 2015 Dec 21.
• Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing. Klein P, Oloko M, Roth F, et al.
  Nucleic Acids Res. 2016 Aug 9
• Dystrophin Threshold Level Necessary for Normalization of Neuronal Nitric Oxide Synthase, Inducible Nitric Oxide Synthase, and Ryanodine Receptor-Calcium Release Channel Type 1 Nitrosylation in Golden Retriever Muscular Dystrophy Dystrophinopathy. Gentil C, Le Guiner C, Falcone S, et al.
  Hum Gene Ther. 2016 Sep;27(9):712-26. doi: 10.1089/hum.2016.041. Epub 2016 Jun 8.
• Multidisciplinary care allowing uneventful vaginal delivery in a woman with Pompe disease. Perniconi B, Vauthier-Brouzes D, Morélot-Panzini C, et al.
  Neuromuscul Disord. 2016 Sep;26(9):610-3. doi: 10.1016/j.nmd.2016.02.016. Epub 2016 Jun 27.
• Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. Bauché S, O’Regan S, Azuma Y, et al.
  Am J Hum Genet. 2016 Sep 1;99(3):753-61. doi: 10.1016/j.ajhg.2016.06.033. Epub 2016 Aug 25.
• Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8). Seferian AM, Malfatti E, Bosson C, et al.
  Neuromuscul Disord. 2016 Oct;26(10):712-716. doi: 10.1016/j.nmd.2016.07.011.
• EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome. Gargaun E, Seferian AM, Cardas R, et al.
  J Neurol. 2016 Jul;263(7):1456-8. doi: 10.1007/s00415-016-8153-9. Epub 2016 May 9. No abstract available.
• Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants. Bouchereau J, Barrot SV, Dupré T, et al.
  JIMD Rep. 2016;29:109-113. doi: 10.1007/8904_2016_526. Epub 2016 Feb 27.