institut de myologie, myology, Pitié-Salpêtrière, paris

Neuromuscular Physiology and Evaluation Laboratory

Jean-Yves-Hogrel-Laboratoire-de-physiologie-et-dévaluation-neuromusculaire-Institut-de-Myologie

Director : Dr Jean-Yves Hogrel

Our principal objectives are

  • To develop tools and evaluation methods of neuromuscular function. 
These tools and methods are necessary for the diagnosis of the disease and the follow-up of motor unit performances. This priority research orientation is justified by the need to improve the quantitative follow-up of patients, particularly for the evaluation of pharmacological, gene or cellular therapies.
  • To implement protocols allowing to emphasize and to better understand the physiological mechanisms at the origin of the functional modifications observed.
    These protocols could be exploited for therapeutic trials of neuromuscular diseases, but also in other situations such as surgery, ageing, hypokinesia or reconditioning.
  • Thanks to its maintenance, innovation and technology transfer activities, the Laboratory is examining the possibilities of valorisation and clinical transfer of new techniques and diagnostic and follow-up methods for neuromuscular pathologies.
  • The Laboratory is also working on the development of an Assurance/Quality referential. To our knowledge, a laboratory accredited in the field of functional explorations in the clinical environment does not exist. Nevertheless, it will be essential to guarantee the quality of neuromuscular force measurements during multicentric protocols whilst being based on validated procedures. 
By starting an Assurance/Quality approach, the Laboratory, aims to be the driving force behind a network of accredited centres.

 

Team members

  • Jean-Yves Hogrel, PhD, Biomedical Engineer, Laboratory director
  • Valérie Decostre, PhD, Physical therapist, Research fellow
  • Damien Bachasson, PhD, Physical therapist, Research fellow
  • Simone Birnbaum, PhD, Physical therapist, Research fellow
  • Erwan Gasnier, PhD, Project manager
  • Isabelle Ledoux, Biomedical Engineer
  • Aurélie Canal, Physical therapist
  • Thomas Poulard, PhD student
  • Alper Carras-Ayaz, Engineering student
  • Kevin Gramage-Medina, Masters student

 

Contact

+ 33 1 42 16 58 79

eval@institut-myologie.org

 

Clinical developments

The principal objective of the Neuromuscular Physiology and Evaluation Laboratory at the Institute of Myology is to develop tools and methods for the neuromuscular function evaluation. These tools and methods are necessary for the diagnosis of the disease and the reliable follow-up of motor performances in patients with neuromuscular disorders. This priority research orientation is justified by the need to improve the quantitative follow-up of patients, particularly for the assessment of pharmacological, gene or cellular therapies.

 

Neuromuscular strength assessment tools

MyoGrip - A dynamometer for high precision grip assessment (patented)

The MyoGrip dynamometer is an electronic device specifically developed for measuring isometric grip strength, even in the weakest patients. The MyoGrip was developed to meet the requirements of a quantified and rigorous monitoring of the grip strength, particularly in clinical trials.

The MyoGrip measures forces from 0 to 90 kg with a resolution of 10 g. Accuracy is 50 g. Handle size is adjustable in a continuous way.

Manufactured by Ateliers Laumonier (contact@laumonier.fr)

 

  • This tool is involved in those protocols evaluation:

DMD
ANTISENSE
SOLID (NCT03368742)
PREMDYF / MDYF (NCT03882827)

Glycogen storage disease type III (GSDIII)
PRO-GSDIII (closed) (NCT01563705)
GSDIII registry

SMA
Nusinersen observatory

Laminopathies
Observatory for PAtients With Laminopathies and Emerinopathies (OPALE) (NCT03058185)

Centronuclear myopathies caused by mutations in DNM2 or MTM1 gene
DYN101-C101 (NCT04033159)

 

 

 

MyoPinch - A dynamometer for the assessment of key pinch strength (patented)

The MyoPinch dynamometer measures pinch strength using a high precision load cell equipped with two steel blades presenting an overall thickness of 7 mm. The MyoPinch measures forces from 0 to 18 kg with a resolution of 1 g. Accuracy is 10 g. The MyoPinch was developed to meet the requirements of a quantified and rigorous monitoring of the pinch strength, particularly in clinical trials.

Manufactured by Ateliers Laumonier (contact@laumonier.fr)

 

  • This tool is involved in those protocols evaluation:

DMD
ANTISENSE
SOLID (NCT03368742)
PREMDYF / MDYF (NCT03882827)

Glycogen storage disease type III (GSDIII)
PRO-GSDIII (terminé) (NCT01563705)
GSDIII registry

SMA
Observatoire Nusinersen

 

 

 

 

 

 

MyoAnkle - A dynamometer to assess the ankle flexion and extension strength

MyoAnkle - Dynamomètre pour l’évaluation de la force de flexion et d’extension de la chevilleThe MyoAnkle was developped to measure both dorsi-flexion and plantar-flexion strengths within a wide range of values, to provide good stabilization of the joint position and to be applicable to subjects of different statures. It can be used in patients with decreased muscle performance as well as healthy children and adults of all ages. The MyoAnkle was developed to meet the requirements of a quantified and rigorous monitoring of the ankle strength, particularly in clinical trials.

 

  • This tool is involved in those protocols evaluation:

Glycogen storage disease type III (GSDIII)
PRO-GSDIII (terminé) (NCT01563705)
GSDIII registry

Laminopathies
Observatory for PAtients With Laminopathies and Emerinopathies (OPALE) (NCT03058185)

 

MyoWrist - A dynamometer for wrist flexion and extension torque assessment

The MyoWrist is a highly sensitive device specifically designed for the assessment of both wrist flexion and extension torque with the same upper limb positioning in children and adults with the possibility of wrist angle adjustment for subjects with contractures. The MyoWrist was developed to meet the requirements of a quantified and rigorous monitoring of the wrist strength, particularly in clinical trials.

 

 

 

 

MyoQuad - A dynamometer for knee extension torque assessment (patented)

The MyoQuad dynamometer is an electronic device specifically developed for measuring knee extensor muscles strength, even in the weakest patients. The MyoQuad device was designed to be used equally in a hospital, home or office-based consultation setting. The idea is that it can be hooked onto the leg of any medical bed or chair, whether round or rectangular in profile. The dynamometer, which is hooked at one end to a fixed support and at the other to the patient’s ankle, is connected by Bluetooth to a tablet, which allows measurements to be visualised in real-time, using a dedicated application. The resolution of the measures is 10 g with a 50 g accuracy.

Manufactured by Ateliers Laumonier (contact@laumonier.fr)

Grip-ball - A grip handle for home training and monitoring (patented)

GripBall - Balle connectée pour la mesure et la rééducation de la force de préhension (breveté)

The Grip-ball is an innovative device that has been designed to measure grip strength. The Grip-ball consists of pressure and temperature sensors and an electronic wireless communication system contained in an airtight ball. The Grip-ball can be inflated to different initial pressures, with data available continuously in real time. The device has advantages over standard dynamometers in that it looks like a simple ball, and can wirelessly communicate via Bluetooth to any compatible receiver, thus have potential to be used for clinical assessment and rehabilitation in a remote setting.

 

 

Motor function and physical activity assessment devices

MoviPlate - A device for the assessment of upper limb motricity (patented)

The MoviPlate is a device that measure the ability to produce repeated movements of wrist and fingers between two cylindrical target keys aligned in the sagittal plane. The subject is asked to touch the two targets alternately as many times as possible in 30 seconds. Their detection threshold can be adjusted to the subject’s strength. Only back-and-forth taps are counted and displayed by the device. The MoviPlate was developed to meet the requirements of a quantified and rigorous monitoring of the upper limb motricity, particularly in clinical trials.

Manufactured by Valotec (contact@valotec.com)

 

  • This device is involved in those protocols evaluation:

DMD
ANTISENSE

SMA
Nusinersen observatory

 

AssistMyo - Augmentation Devices in Neuromuscular Disorders

We evaluate the safety, feasibility, and short- and long-term efficacy of innovative augmentation/compensation devices in patients with neuromuscular disorders. Motorized assistive devices, grouped under the term exoskeletons, have a strong potential for compensating for muscle weakness and improving mobility and independence, outside the framework of neurorehabilitation. This research is carried out in collaboration with companies developing such devices and academic partners such as the Institut des Systèmes Intelligents et de Robotique (ISIR).

Daily physical activity and exercise in neuromuscular disorders: applications in myasthenia gravis (McRoberts), SMA, DMD and MTM (ActiMyo), idiopathic inflammatory myopathies (GENEActiv)

Muscle activation is one of the most important mechanisms for maintaining muscle mass and function. We study the impact of neuromuscular disorders on daily physical activity according to pathologies and clinical parameters (both physiological & psychological). We use methods for objective quantification of physical activity such as accelerometry coupled with innovative approaches in signal processing.

We also conduct prospective studies to evaluate the muscular and extramuscular effects of increased daily physical activity and/or structured exercise programs in patients with neuromuscular pathologies. This work is carried out in collaboration with the Department of Neuromyology, the Department of Internal Medicine of the APHP-SU, and the Myology Research Center of the Institute of Myology.

 

MGEX study

The purpose of this randomized clinical trial is to assess the safety, tolerance and efficacy of physical exercise on a rowing machine over a 3-month period (three home sessions per week) on the Quality of Life of patients with generalized Myasthenia Gravis stabilized since at least 6 months. The secondary objectives are to assess the effects of exercise on physical condition (muscle strength, muscle fatigability, muscular endurance) and on the immune response.

 

ActiMyo – A device developed to evaluate the physical abilities of subjects suffering from neuromuscular or movement disorders at home

ActiMyo is a new device designed to assess patients with neuromuscular or movement disorders at home. It was developed to precisely record movement of upper and/or lower limbs in everyday life. ActiMyo is able to record the signals of any movement during a day, or for several consecutive days or weeks. ActiMyo measures the physical activity of a patient via various sensors in the three dimensional space.

  • This device is involved in those protocols evaluation:

Sarepta (Duchenne Muscular Dystrophy)
Valerion-MTM (Myotubular myopathy)
Nathis-DMD (Duchenne Muscular Dystrophy))
PRO045 (Duchenne muscular dystrophy)

Gait analysis using accelerometry

Gait analysis using accelerometry is a promising tool for the study of clinical gait parameters. Indeed, it provides useful information on the characteristics (quantitative parameters) of walking in healthy or neuromuscular patients. The signals are recorded by a Locometrix device (Centaure Metrix company), an acceleration sensor that records all the movements of the centre of gravity during walking. The analyses are carried out with the means of a software developed in our lab that allows the computation of gait quality indicators on the accelerometric signals.

  • This device is involved in those protocols evaluation:

GSDII / Pompe disease
Registre Pompe (NCT00231400)

Glycogen storage disease type III (GSDIII)
PRO-GSDIII (closed) (NCT01563705)
GSDIII registry

MyoTone Test - Quantitative myotonia assessment using force relaxation curve modeling

MyoTone Test - Evaluation de la myotonie par modélisation de la courbe de relaxation de forceThe MyoTone Test was developed in 2008 in order to assess in less than 10 min reaction time, maximal voluntary contraction (MVC) for hand grip and myotonia after a submaximal grip contraction at 70% MVC sustained during 5 sec. Myotonia is assessed using a fully automatic software based on mathematical modeling of relaxation force curve.

 

  • This tool is involved in those protocols evaluation:

MyoMet (Myotonic Dystrophy type 1)
NatHis-DM1 (Myotonic dystrophy type 1)
MyoMex (Efficacy and safety of mexiletine in non-dystrophic myotonias)

 

HoBaMo system - Home Balance Monitoring system (patented)

HoBaMo system - Système de mesure de la qualité de l’équilibre à domicile (breveté)

TaToo - Tremor assessment tool

TaToo - Outil d’évaluation des tremblements

 

Diagnostic devices

Grip Test - A non-ischemic forearm exercise test for the screening of patients with exercise intolerance

Grip TestThe Grip Test is a standardized non-ischemic exercise test used as a diagnostic tool for a safe screening of patients with exercise intolerance and for the diagnosis of various metabolic muscle disorders. The production of lactate, ammonia and creatine kinase are analyzed to guide the diagnosis. The sensitivity of the Grip Test is very good for patients with a glycogenolysis defect.

 

 

 

Muscle structure or composition assessment devices

RespiMyo - Multiparametric ultrasound imaging in respiratory and locomotor muscles

Aixplorer (Supersonic Imagine) - Dispositif pour l’évaluation de la raideur des muscles par élastographie (imagerie ultrarapide pour le suivi des ondes de cisaillement)We are developing new approaches based on multiparametric ultrasound for the characterization of muscle structure and function. This project includes the use of ultrafast plane wave imaging, strain imaging, and shear wave elastography. Within this topic, the RespiMyo project focuses on the application of multiparametric ultrasound in the diaphragm to propose specific and non-invasive alternatives for the evaluation of diaphragmatic dysfunction associated with neuromuscular disorders, respiratory diseases, and those induced by mechanical ventilation in the intensive care unit. These studies are carried out in collaboration with the NMR laboratory of the Institute of Myology, the BIOMAPS laboratory (Université Paris-Sud – CEA), the R3S (Respiration, Reanimation, Rehabilitation, Sleep) department of the APHP-SU, and the Radboudumc University Medical Centre in Holland.

Access to the manufacturer Supersonic Imagine

 

 

 

 

 

 

ElectMyo - Reappraising bioelectrical impedance measurements for estimating lean regional muscle mass

Dispositif pour l’évaluation de la bioimpédance globale et locale (propriétés électriques des tissus)We are developing new approaches based on the study of the electrical properties of biological tissues to quantify regional muscle mass (e.g. thigh). This project involves the development of objects (e.g. skin-electrode interface), in silico models, and the collection of data in healthy volunteers in various physiological contexts (immobilization, training, …) and in patients suffering from neuromuscular disorders or conditions associated with muscle wasting/degeneration diseases. These studies are carried out in collaboration with the NMR laboratory of the Institute of Myology, the Department of Neuromyology, and the Department of Internal Medicine of the APHP-SU.

Access to the manufacturer Bioparhom

 

EMG – machine and software

ELAPS - High spatial resolution surface EMG electrodes (patented)

The high spatial resolution surface EMG, which is based on the use of a multi-electrode array in combination with a spatial filter procedure, is currently the best compromise between the selectivity of needle EMG and the representative nature of classical surface electromyography. The system allows the detection of single motor unit (MU) activity in a non-invasive way and enables the determination of the conduction velocity (CV) in single MUs. MUCV distributions are indirectly related to muscle fibre diameters. Furthermore, the high-spatial-resolution-EMG detects changes in the electrical activities of the MUs which are typical in some neuromuscular and neurological disorders.

Système de mesure d’EMG à haute résolution spatiale

 

 

 

 

 

 

Preclinical developments

 

DynaMice - An isometric dynamometer for the non-invasive assessment of flexion/extension torque of the ankle in small rodents

DynaMice - Dynamomètre pour l’évaluation de la force de flexion et d’extension de la cheville des petits rongeurs

 

DynaDogs - In vivo measurement of wrist extension and flexion torque in the forelimb of the dog (patent pending)

Dynamomètre pour l’évaluation de la force de flexion et d’extension de la patte avant du chien

Dog gait analysis

Locometrix (Centaure Metrix) - Dispositif accélérométrique pour l’analyse de la marche

 

 

 

Recent publications

 

  • Routine monitoring of isometric knee extension strength in patients with muscle impairments using a new portable device: cross-validation against a standard isokinetic dynamometer. Hogrel JY, Benveniste O, Bachasson D. Physiol Meas. 2020;41(1):015003. Published 2020 Feb 5. doi:10.1088/1361-6579/ab6b49
  • Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy, Hogrel JY, Decostre V, Ledoux I, de Antonio M, Niks E H, de Groot I, Straub V, Muntoni F, Ricotti V, Voit T, Seferian A, Gidaro T & Servais L. [published online ahead of print, 2020 Mar 21]. J Neurol. 2020;10.1007/s00415-020-09800-9. doi:10.1007/s00415-020-09800-9
  • Determinants of Performance in the Timed Up-and-Go and Six-Minute Walk Tests in Young and Old Healthy Adults. Montgomery G, McPhee J, Pääsuke M, Sipilä S, Maier A B, Hogrel JY, Degens H. J Clin Med. 2020;9(5):1561. Published 2020 May 21. doi:10.3390/jcm9051561
  • 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.
  • 
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.
  • 
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.