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Items: 1 to 20 of 139

1.

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 Nov;129(11):2333-2340. doi: 10.1016/j.clinph.2018.08.025. Epub 2018 Sep 13.

PMID:
30248623
2.

Report of the third outcome measures in myotonic dystrophy type 1 (OMMYD-3) international workshop Paris, France, June 8, 2015.

Gagnon C, Heatwole C, Hébert LJ, Hogrel JY, Laberge L, Leone M, Meola G, Richer L, Sansone V, Kierkegaard M.

J Neuromuscul Dis. 2018;5(4):523-537. doi: 10.3233/JND-180329. No abstract available.

PMID:
30248061
3.

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.

4.

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 Oct 1;141(10):2855-2865. doi: 10.1093/brain/awy231.

PMID:
30169600
5.

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.

6.

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.

PMID:
29935982
7.

Ankle Strength Impairments in Myotonic Dystrophy Type 1: A Five-Year Follow-up.

Hébert LJ, Vial C, Hogrel JY, Puymirat J.

J Neuromuscul Dis. 2018;5(3):321-330. doi: 10.3233/JND-180311.

PMID:
29889079
8.

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.

9.

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.

PMID:
29706410
10.

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.

PMID:
29651119
11.

Local Texture Anisotropy as an Estimate of Muscle Quality in Ultrasound Imaging.

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.

PMID:
29428167
12.

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 Nov;89(11):1224-1226. doi: 10.1136/jnnp-2017-317329. Epub 2018 Jan 29. No abstract available.

13.

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
14.

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.

15.

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.

16.

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.

17.

A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome.

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.

PMID:
29110179
18.

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
19.

Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A.

Fledrich R, Mannil M, Leha A, Ehbrecht C, Solari A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Schnizer TJ, Prukop T, Garcia-Angarita N, Czesnik D, Haberlová J, Mazanec R, Paulus W, Beissbarth T, Walter MC, Triaal C, Hogrel JY, Dubourg O, Schenone A, Baets J, De Jonghe P, Shy ME, Horvath R, Pareyson D, Seeman P, Young P, Sereda MW.

J Neurol Neurosurg Psychiatry. 2017 Nov;88(11):941-952. doi: 10.1136/jnnp-2017-315721. Epub 2017 Aug 31.

PMID:
28860329
20.

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.

PMID:
28823815

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