Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 292

1.

Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A.

Lostal W, Roudaut C, Faivre M, Charton K, Suel L, Bourg N, Best H, Smith JE, Gohlke J, Corre G, Li X, Elbeck Z, Knöll R, Deschamps JY, Granzier H, Richard I.

Sci Transl Med. 2019 Nov 27;11(520). pii: eaat6072. doi: 10.1126/scitranslmed.aat6072.

PMID:
31776291
2.

Role of Regulatory T Cell and Effector T Cell Exhaustion in Liver-Mediated Transgene Tolerance in Muscle.

Poupiot J, Costa Verdera H, Hardet R, Colella P, Collaud F, Bartolo L, Davoust J, Sanatine P, Mingozzi F, Richard I, Ronzitti G.

Mol Ther Methods Clin Dev. 2019 Sep 3;15:83-100. doi: 10.1016/j.omtm.2019.08.012. eCollection 2019 Dec 13.

3.

TTP-like syndrome associated with hemoglobin SC disease treated successfully with plasma and red cell exchange.

Kodali S, Ramachandran P, Richard IN, Wang JC.

Leuk Res Rep. 2019 Jul 23;12:100179. doi: 10.1016/j.lrr.2019.100179. eCollection 2019.

4.

Functional and cellular localization diversity associated with Fukutin-related protein patient genetic variants.

Henriques SF, Gicquel E, Marsolier J, Richard I.

Hum Mutat. 2019 Oct;40(10):1874-1885. doi: 10.1002/humu.23827. Epub 2019 Jul 3.

PMID:
31268217
5.

An AAV-SGCG Dose-Response Study in a γ-Sarcoglycanopathy Mouse Model in the Context of Mechanical Stress.

Israeli D, Cosette J, Corre G, Amor F, Poupiot J, Stockholm D, Montus M, Gjata B, Richard I.

Mol Ther Methods Clin Dev. 2019 May 10;13:494-502. doi: 10.1016/j.omtm.2019.04.007. eCollection 2019 Jun 14.

6.

Dual muscle-liver transduction imposes immune tolerance for muscle transgene engraftment despite preexisting immunity.

Bartolo L, Li Chung Tong S, Chappert P, Urbain D, Collaud F, Colella P, Richard I, Ronzitti G, Demengeot J, Gross DA, Mingozzi F, Davoust J.

JCI Insight. 2019 Jun 6;4(11). pii: 127008. doi: 10.1172/jci.insight.127008. eCollection 2019 Jun 6.

7.

Identification of thiostrepton as a pharmacological approach to rescue misfolded alpha-sarcoglycan mutant proteins from degradation.

Hoch L, Henriques SF, Bruge C, Marsolier J, Benabides M, Bourg N, Tournois J, Mahé G, Morizur L, Jarrige M, Bigot A, Richard I, Nissan X.

Sci Rep. 2019 May 6;9(1):6915. doi: 10.1038/s41598-019-43399-w.

8.

Lewy Body Dementia Association's Research Centers of Excellence Program: Inaugural Meeting Proceedings.

Peterson B, Armstrong M, Galasko D, Galvin JE, Goldman J, Irwin D, Paulson H, Kaufer D, Leverenz J, Lunde A, McKeith IG, Siderowf A, Taylor A, Amodeo K, Barrett M, Domoto-Reilly K, Duda J, Gomperts S, Graff-Radford N, Holden S, Honig L, Huddleston D, Lippa C, Litvan I, Manning C, Marder K, Moussa C, Onyike C, Pagan F, Pantelyat A, Pelak V, Poston K, Quinn J, Richard I, Rosenthal LS, Sabbagh M, Scharre D, Sha S, Shill H, Torres-Yaghi Y, Christie T, Graham T, Richards I, Koehler M, Boeve B.

Alzheimers Res Ther. 2019 Mar 13;11(1):23. doi: 10.1186/s13195-019-0476-1.

9.

In Vivo Monitoring of Calpain Activity by Forster Resonance Energy Transfer.

Lostal W, Stockholm D, Richard I.

Methods Mol Biol. 2019;1915:57-66. doi: 10.1007/978-1-4939-8988-1_5.

PMID:
30617795
10.

A Rare Case of Pembrolizumab-Induced Reactivation of Hepatitis B.

Pandey A, Ezemenari S, Liaukovich M, Richard I, Boris A.

Case Rep Oncol Med. 2018 Oct 17;2018:5985131. doi: 10.1155/2018/5985131. eCollection 2018.

11.

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies.

Ávila-Polo R, Malfatti E, Lornage X, Cheraud C, Nelson I, Nectoux J, Böhm J, Schneider R, Hedberg-Oldfors C, Eymard B, Monges S, Lubieniecki F, Brochier G, Thao Bui M, Madelaine A, Labasse C, Beuvin M, Lacène E, Boland A, Deleuze JF, Thompson J, Richard I, Taratuto AL, Udd B, Leturcq F, Bonne G, Oldfors A, Laporte J, Romero NB.

J Neuropathol Exp Neurol. 2018 Dec 1;77(12):1101-1114. doi: 10.1093/jnen/nly095.

PMID:
30365001
12.

Cognition among individuals along a spectrum of increased risk for Parkinson's disease.

Chahine LM, Urbe L, Caspell-Garcia C, Aarsland D, Alcalay R, Barone P, Burn D, Espay AJ, Hamilton JL, Hawkins KA, Lasch S, Leverenz JB, Litvan I, Richard I, Siderowf A, Coffey CS, Simuni T, Weintraub D; Parkinson’s Progression Markers Initiative.

PLoS One. 2018 Aug 20;13(8):e0201964. doi: 10.1371/journal.pone.0201964. eCollection 2018.

13.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG.

Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241.

14.

233rd ENMC International Workshop:: Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15-17 September 2017.

Lostal W, Urtizberea JA, Richard I; calpain 3 study group.

Neuromuscul Disord. 2018 Jun;28(6):540-549. doi: 10.1016/j.nmd.2018.03.010. Epub 2018 Mar 28. No abstract available.

PMID:
29655529
15.

Factors influencing physiotherapists' attitudes and beliefs toward chronic low back pain: Impact of a care network belonging.

Petit A, Begue C, Richard I, Roquelaure Y.

Physiother Theory Pract. 2019 May;35(5):437-443. doi: 10.1080/09593985.2018.1444119. Epub 2018 Mar 9.

PMID:
29521556
16.

Application of response surface methodology to tailor the surface chemistry of electrospun chitosan-poly(ethylene oxide) fibers.

Bösiger P, Richard IMT, Le Gat L, Michen B, Schubert M, Rossi RM, Fortunato G.

Carbohydr Polym. 2018 Apr 15;186:122-131. doi: 10.1016/j.carbpol.2018.01.038. Epub 2018 Jan 11.

PMID:
29455969
17.

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.

Jonson PH, Palmio J, Johari M, Penttilä S, Evilä A, Nelson I, Bonne G, Wiart N, Meyer V, Boland A, Deleuze JF, Masson C, Stojkovic T, Chapon F, Romero NB, Solé G, Ferrer X, Ferreiro A, Hackman P, Richard I, Udd B.

Eur J Neurol. 2018 May;25(5):790-794. doi: 10.1111/ene.13598. Epub 2018 Mar 30.

PMID:
29437287
18.

Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression.

Vidal P, Pagliarani S, Colella P, Costa Verdera H, Jauze L, Gjorgjieva M, Puzzo F, Marmier S, Collaud F, Simon Sola M, Charles S, Lucchiari S, van Wittenberghe L, Vignaud A, Gjata B, Richard I, Laforet P, Malfatti E, Mithieux G, Rajas F, Comi GP, Ronzitti G, Mingozzi F.

Mol Ther. 2018 Mar 7;26(3):890-901. doi: 10.1016/j.ymthe.2017.12.019. Epub 2017 Dec 28.

19.

Different outcome of sarcoglycan missense mutation between human and mouse.

Henriques SF, Patissier C, Bourg N, Fecchio C, Sandona D, Marsolier J, Richard I.

PLoS One. 2018 Jan 23;13(1):e0191274. doi: 10.1371/journal.pone.0191274. eCollection 2018.

20.

Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D.

Carotti M, Marsolier J, Soardi M, Bianchini E, Gomiero C, Fecchio C, Henriques SF, Betto R, Sacchetto R, Richard I, Sandonà D.

Hum Mol Genet. 2018 Mar 15;27(6):969-984. doi: 10.1093/hmg/ddy013.

21.

Enzyme functionalized electrospun chitosan mats for antimicrobial treatment.

Bösiger P, Tegl G, Richard IMT, Le Gat L, Huber L, Stagl V, Mensah A, Guebitz GM, Rossi RM, Fortunato G.

Carbohydr Polym. 2018 Feb 1;181:551-559. doi: 10.1016/j.carbpol.2017.12.002. Epub 2017 Dec 5.

PMID:
29254006
22.

Parkinson's disease psychosis: presentation, diagnosis and management.

Schneider RB, Iourinets J, Richard IH.

Neurodegener Dis Manag. 2017 Dec;7(6):365-376. doi: 10.2217/nmt-2017-0028. Epub 2017 Nov 21. Review.

PMID:
29160144
23.

Virtual visits for Parkinson disease: A multicenter noncontrolled cohort.

Korn RE, Wagle Shukla A, Katz M, Keenan HT, Goldenthal S, Auinger P, Zhu W, Dodge M, Rizer K, Achey MA, Byrd E, Barbano R, Richard I, Andrzejewski KL, Schwarz HB, Dorsey ER, Biglan KM, Kang G, Kanchana S, Rodriguez R, Tanner CM, Galifianakis NB.

Neurol Clin Pract. 2017 Aug;7(4):283-295. doi: 10.1212/CPJ.0000000000000371.

24.

National randomized controlled trial of virtual house calls for Parkinson disease.

Beck CA, Beran DB, Biglan KM, Boyd CM, Dorsey ER, Schmidt PN, Simone R, Willis AW, Galifianakis NB, Katz M, Tanner CM, Dodenhoff K, Aldred J, Carter J, Fraser A, Jimenez-Shahed J, Hunter C, Spindler M, Reichwein S, Mari Z, Dunlop B, Morgan JC, McLane D, Hickey P, Gauger L, Richard IH, Mejia NI, Bwala G, Nance M, Shih LC, Singer C, Vargas-Parra S, Zadikoff C, Okon N, Feigin A, Ayan J, Vaughan C, Pahwa R, Dhall R, Hassan A, DeMello S, Riggare SS, Wicks P, Achey MA, Elson MJ, Goldenthal S, Keenan HT, Korn R, Schwarz H, Sharma S, Stevenson EA, Zhu W; Connect.Parkinson Investigators.

Neurology. 2017 Sep 12;89(11):1152-1161. doi: 10.1212/WNL.0000000000004357. Epub 2017 Aug 16.

25.

Efficiency of three treatment strategies on occupational and quality of life impairments for chronic low back pain patients: is the multidisciplinary approach the key feature to success?

Ronzi Y, Roche-Leboucher G, Bègue C, Dubus V, Bontoux L, Roquelaure Y, Richard I, Petit A.

Clin Rehabil. 2017 Oct;31(10):1364-1373. doi: 10.1177/0269215517691086. Epub 2017 Feb 13.

PMID:
28592147
26.

1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15-16 November 2016, Evry, France.

Marsolier J, Laforet P, Pegoraro E, Vissing J, Richard I; Sarcoglycanopathies Working Group.

Neuromuscul Disord. 2017 Jul;27(7):683-692. doi: 10.1016/j.nmd.2017.02.011. Epub 2017 Mar 3. No abstract available.

PMID:
28521973
27.

Multiple modality biomarker prediction of cognitive impairment in prospectively followed de novo Parkinson disease.

Caspell-Garcia C, Simuni T, Tosun-Turgut D, Wu IW, Zhang Y, Nalls M, Singleton A, Shaw LA, Kang JH, Trojanowski JQ, Siderowf A, Coffey C, Lasch S, Aarsland D, Burn D, Chahine LM, Espay AJ, Foster ED, Hawkins KA, Litvan I, Richard I, Weintraub D; Parkinson’s Progression Markers Initiative (PPMI).

PLoS One. 2017 May 17;12(5):e0175674. doi: 10.1371/journal.pone.0175674. eCollection 2017.

28.

Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy.

Vihola A, Luque H, Savarese M, Penttilä S, Lindfors M, Leturcq F, Eymard B, Tasca G, Brais B, Conte T, Charton K, Richard I, Udd B.

Neuropathol Appl Neurobiol. 2018 Aug;44(5):441-448. doi: 10.1111/nan.12410. Epub 2017 Jun 6.

PMID:
28489263
29.

Long-term follow-up of a randomized AAV2-GAD gene therapy trial for Parkinson's disease.

Niethammer M, Tang CC, LeWitt PA, Rezai AR, Leehey MA, Ojemann SG, Flaherty AW, Eskandar EN, Kostyk SK, Sarkar A, Siddiqui MS, Tatter SB, Schwalb JM, Poston KL, Henderson JM, Kurlan RM, Richard IH, Sapan CV, Eidelberg D, During MJ, Kaplitt MG, Feigin A.

JCI Insight. 2017 Apr 6;2(7):e90133. doi: 10.1172/jci.insight.90133.

30.

AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression.

Gicquel E, Maizonnier N, Foltz SJ, Martin WJ, Bourg N, Svinartchouk F, Charton K, Beedle AM, Richard I.

Hum Mol Genet. 2017 May 15;26(10):1952-1965. doi: 10.1093/hmg/ddx066.

31.

Hip region muscular dystrophy and emergence of motor deficits in dysferlin-deficient Bla/J mice.

Nagy N, Nonneman RJ, Llanga T, Dial CF, Riddick NV, Hampton T, Moy SS, Lehtimäki KK, Ahtoniemi T, Puoliväli J, Windish H, Albrecht D, Richard I, Hirsch ML.

Physiol Rep. 2017 Mar;5(6). pii: e13173. doi: 10.14814/phy2.13173.

32.

Osteochondral lesions and partial fractures of the talus in paleopathology.

Darton Y, Gallien V, Henrion É, Dupuis M, Richard I.

Int J Paleopathol. 2017 Mar;16:31-39. doi: 10.1016/j.ijpp.2016.12.002. Epub 2017 Jan 12. Review. No abstract available.

PMID:
28290308
33.

Exploiting the CRISPR/Cas9 system to study alternative splicing in vivo: application to titin.

Charton K, Suel L, Henriques SF, Moussu JP, Bovolenta M, Taillepierre M, Becker C, Lipson K, Richard I.

Hum Mol Genet. 2016 Oct 15;25(20):4518-4532. doi: 10.1093/hmg/ddw280.

PMID:
28173117
34.

γ-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort.

Dalichaouche I, Sifi Y, Roudaut C, Sifi K, Hamri A, Rouabah L, Abadi N, Richard I.

Muscle Nerve. 2017 Jul;56(1):129-135. doi: 10.1002/mus.25443. Epub 2017 Feb 10.

PMID:
27759885
35.

216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15-17, 2016 Naarden, The Netherlands.

Richard I, Laurent JP, Cirak S, Vissing J; ENMC FKRP Study Group.

Neuromuscul Disord. 2016 Oct;26(10):717-724. doi: 10.1016/j.nmd.2016.08.012. Epub 2016 Aug 24. No abstract available.

PMID:
27639504
36.

The Authors Respond.

Frémondière F, Lacoeuille F, Sher A, Couturier O, Menei P, Richard I, Dinomais M.

Arch Phys Med Rehabil. 2016 Sep;97(9):1595-1597. doi: 10.1016/j.apmr.2016.05.006. No abstract available.

PMID:
27569034
37.

Circulating miRNAs are generic and versatile therapeutic monitoring biomarkers in muscular dystrophies.

Israeli D, Poupiot J, Amor F, Charton K, Lostal W, Jeanson-Leh L, Richard I.

Sci Rep. 2016 Jun 21;6:28097. doi: 10.1038/srep28097.

38.

[Predictive validity of selection process in medical school, a systematic review of the literature].

Fayolle AV, Passirani C, Letertre E, Ramond A, Perrotin D, Saint-André JP, Richard I.

Presse Med. 2016 May;45(5):483-94. doi: 10.1016/j.lpm.2016.03.007. Epub 2016 May 2. Review. French.

PMID:
27156971
39.

Natural history of LGMD2A for delineating outcome measures in clinical trials.

Richard I, Hogrel JY, Stockholm D, Payan CA, Fougerousse F; Calpainopathy Study Group, Eymard B, Mignard C, Lopez de Munain A, Fardeau M, Urtizberea JA.

Ann Clin Transl Neurol. 2016 Mar 4;3(4):248-65. doi: 10.1002/acn3.287. eCollection 2016 Apr.

40.

[Training of medical students for pelvic examination: Benefits of teaching on anatomic models].

Bouet PE, Jeanneteau P, Legendre G, El Hachem H, Richard I, Granry JC, Descamps P, Sentilhes L.

J Gynecol Obstet Biol Reprod (Paris). 2016 Sep;45(7):679-84. doi: 10.1016/j.jgyn.2015.09.006. Epub 2016 Mar 17. French.

41.

National Randomized Controlled Trial of Virtual House Calls for People with Parkinson's Disease: Interest and Barriers.

Dorsey ER, Achey MA, Beck CA, Beran DB, Biglan KM, Boyd CM, Schmidt PN, Simone R, Willis AW, Galifianakis NB, Katz M, Tanner CM, Dodenhoff K, Ziman N, Aldred J, Carter J, Jimenez-Shahed J, Hunter C, Spindler M, Mari Z, Morgan JC, McLane D, Hickey P, Gauger L, Richard IH, Bull MT, Mejia NI, Bwala G, Nance M, Shih L, Anderson L, Singer C, Zadikoff C, Okon N, Feigin A, Ayan J, Vaughan C, Pahwa R, Cooper J, Webb S, Dhall R, Hassan A, Weis D, DeMello S, Riggare SS, Wicks P, Smith J, Keenan HT, Korn R, Schwarz H, Sharma S, Stevenson EA, Zhu W.

Telemed J E Health. 2016 Jul;22(7):590-8. doi: 10.1089/tmj.2015.0191. Epub 2016 Feb 17.

42.

Relationship between somatosensory deficit and brain somatosensory system after early brain lesion: A morphometric study.

Perivier M, Delion M, Chinier E, Loustau S, Nguyen S, Ter Minassian A, Richard I, Dinomais M.

Eur J Paediatr Neurol. 2016 May;20(3):403-11. doi: 10.1016/j.ejpn.2015.11.013. Epub 2016 Jan 19.

PMID:
26831357
43.

Trajectories of recovery in depressed Parkinson's disease patients treated with paroxetine or venlafaxine.

Broen MP, Leentjens AF, Köhler S, Kuijf ML, McDonald WM, Richard IH.

Parkinsonism Relat Disord. 2016 Feb;23:80-5. doi: 10.1016/j.parkreldis.2015.12.013. Epub 2015 Dec 21.

PMID:
26739248
44.

Modeling anxiety in Parkinson's disease.

Broen MP, Köhler S, Moonen AJ, Kuijf ML, Dujardin K, Marsh L, Richard IH, Starkstein SE, Martinez-Martin P, Leentjens AF.

Mov Disord. 2016 Mar;31(3):310-6. doi: 10.1002/mds.26461. Epub 2015 Dec 21.

PMID:
26685935
45.

What Do Eye Gaze Metrics Tell Us about Motor Imagery?

Poiroux E, Cavaro-Ménard C, Leruez S, Lemée JM, Richard I, Dinomais M.

PLoS One. 2015 Nov 25;10(11):e0143831. doi: 10.1371/journal.pone.0143831. eCollection 2015.

46.

Isotopic Scintigraphy Coupled With Computed Tomography for the Investigation of Intrathecal Baclofen Device Malfunction.

Frémondière F, Lacoeuille F, Sher A, Couturier O, Menei P, Richard I, Dinomais M.

Arch Phys Med Rehabil. 2016 Apr;97(4):646-649. doi: 10.1016/j.apmr.2015.10.101. Epub 2015 Nov 12.

PMID:
26582550
47.

A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.

De Cid R, Ben Yaou R, Roudaut C, Charton K, Baulande S, Leturcq F, Romero NB, Malfatti E, Beuvin M, Vihola A, Criqui A, Nelson I, Nectoux J, Ben Aim L, Caloustian C, Olaso R, Udd B, Bonne G, Eymard B, Richard I.

Neurology. 2015 Dec 15;85(24):2126-35. doi: 10.1212/WNL.0000000000002200. Epub 2015 Nov 18.

48.

Virtual reality and neuropsychological assessment: The reliability of a virtual kitchen to assess daily-life activities in victims of traumatic brain injury.

Besnard J, Richard P, Banville F, Nolin P, Aubin G, Le Gall D, Richard I, Allain P.

Appl Neuropsychol Adult. 2016;23(3):223-35. doi: 10.1080/23279095.2015.1048514. Epub 2015 Nov 16.

PMID:
26569498
49.

Feasibility of Virtual Research Visits in Fox Trial Finder.

Dorsey ER, Wagner JD, Bull MT, Rizzieri A, Grischkan J, Achey MA, Sherer T, Chowdhury S, Meunier C, Cappelletti L, Rocker C, Richard IH, Schwarz H, Kang G, Ahmad SH, Biemiller RA, Biglan KM.

J Parkinsons Dis. 2015;5(3):505-15. doi: 10.3233/JPD-150549.

50.

Interest of the Ergo-Kit(®) for the clinical practice of the occupational physician. A study of 149 patients recruited in a rehabilitation program.

Caron J, Ronzi Y, Bodin J, Richard I, Bontoux L, Roquelaure Y, Petit A.

Ann Phys Rehabil Med. 2015 Oct;58(5):289-97. doi: 10.1016/j.rehab.2015.08.002. Epub 2015 Sep 15.

Supplemental Content

Loading ...
Support Center