| Year |
Citation |
Score |
| 2023 |
Albini S, Palmieri L, Dubois A, Bourg N, Lostal W, Richard I. Assessment of Therapeutic Potential of a Dual AAV Approach for Duchenne Muscular Dystrophy. International Journal of Molecular Sciences. 24. PMID 37511179 DOI: 10.3390/ijms241411421 |
0.335 |
|
| 2022 |
Vecten M, Pion E, Bartoli M, Morales RJ, Sternberg D, Rendu J, Stojkovic T, Bourdain CA, Métay C, Richard I, Cerino M, Milh M, Campana-Salort E, Gorokhova S, Levy N, et al. Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care. International Journal of Molecular Sciences. 23. PMID 35955641 DOI: 10.3390/ijms23158506 |
0.483 |
|
| 2021 |
Thiruvengadam G, Sreetama SC, Charton K, Hogarth M, Novak JS, Suel-Petat L, Chandra G, Allard B, Richard I, Jaiswal JK. Anoctamin 5 Knockout Mouse Model Recapitulates LGMD2L Muscle Pathology and Offers Insight Into in vivo Functional Deficits. Journal of Neuromuscular Diseases. PMID 34633328 DOI: 10.3233/JND-210720 |
0.355 |
|
| 2020 |
Villar Quiles RN, Richard I, Bouchet-Seraphin C, Stojkovic T. [Limb-Girdle Muscular Dystrophy type R9 linked to the FKRP gene: state of the art and therapeutic perspectives]. Medecine Sciences : M/S. 36: 28-33. PMID 33427633 DOI: 10.1051/medsci/2020239 |
0.348 |
|
| 2020 |
Fernández-Eulate G, Leturcq F, Laforêt P, Richard I, Stojkovic T. [Sarcoglycanopathies: state of the art and therapeutic perspectives]. Medecine Sciences : M/S. 36: 22-27. PMID 33427632 DOI: 10.1051/medsci/2020243 |
0.328 |
|
| 2019 |
Sarparanta J, Vihola A, Singh R, Richard I, Udd B. P.138C-terminal titin fragments in mouse muscles Neuromuscular Disorders. 29. DOI: 10.1016/J.Nmd.2019.06.194 |
0.378 |
|
| 2018 |
Henriques SF, Patissier C, Bourg N, Fecchio C, Sandona D, Marsolier J, Richard I. Different outcome of sarcoglycan missense mutation between human and mouse. Plos One. 13: e0191274. PMID 29360879 DOI: 10.1371/journal.pone.0191274 |
0.34 |
|
| 2017 |
Gicquel E, Maizonnier N, Foltz SJ, Martin WJ, Bourg N, Svinartchouk F, Charton K, Beedle AM, Richard I. Aav-Mediated Transfer of Fkrp Shows Therapeutic Efficacy In a Murine Model But Requires Control of Gene Expression. Human Molecular Genetics. PMID 28334834 DOI: 10.1093/Hmg/Ddx066 |
0.338 |
|
| 2017 |
Hackman P, Savarese M, Bönneman C, Ferreiro A, Beggs A, Gautel M, Davis M, Evangelista T, Glumac JN, Laporte J, Smith J, Richard I, Granzier H, Schneider R, Jungbluth H, et al. P.480 - Establishment of an international database of Titin mutations and their phenotypes – a follow up: 22nd International Congress of the World Muscle Society Neuromuscular Disorders. 27. DOI: 10.1016/J.Nmd.2017.06.519 |
0.412 |
|
| 2017 |
Böhm J, Schneider R, Malfatti E, Schartner V, Lornage X, Nelson I, Bonne G, Eymard B, Nectoux J, Leturcq F, Bartoli M, Krahn M, Saker S, Richard I, Boland A, et al. P.327 - Integrated analysis of the large-scale sequencing project “Myocapture” to identify novel genes for myopathies Neuromuscular Disorders. 27. DOI: 10.1016/J.Nmd.2017.06.367 |
0.509 |
|
| 2017 |
Bellec-Dyèvre J, Lostal W, Bernard E, Cosette J, Richard I. P.298 - Development of a CRISPR-based gene therapy approach targeting the large exon 45-exon 55 mutation hotspot in DMD gene Neuromuscular Disorders. 27. DOI: 10.1016/J.Nmd.2017.06.338 |
0.348 |
|
| 2017 |
Warnez-Soulie J, Giannesini B, Henri S, Richard I, Malissen B, Krahn M, Bartoli M. P.155 - Characterization of the eosinophilic myositis caused by CAPN3 mutations on a mouse model Neuromuscular Disorders. 27. DOI: 10.1016/J.Nmd.2017.06.185 |
0.549 |
|
| 2016 |
Charton K, Suel L, Henriques SF, Moussu JP, Bovolenta M, Taillepierre M, Becker C, Lipson K, Richard I. Exploiting The CRISPR/CAS9 System to Study Alternative Splicing In Vivo: Application to Titin. Human Molecular Genetics. PMID 27554112 DOI: 10.1093/hmg/ddw280 |
0.3 |
|
| 2016 |
Gicquel E, Maizonnier N, Foltz SJ, Martin W, Bourg N, Svinartchouk F, Charton K, Beedle A, Richard I. 377. AAV-Mediated Transfer of FKRP Shows Therapeutic Efficacy in a Murine Model of Limb-Girdle Muscular Dystrophy Type 2i, but Requires Tight Control of Gene Expression Molecular Therapy. 24: S150. DOI: 10.1016/S1525-0016(16)33186-0 |
0.354 |
|
| 2016 |
Oates E, Yau K, Donkervoort S, Swanson L, Brammah S, Topf A, Richard I, Ferreiro A, Hoffman E, Bushby K, Straub V, Udd B, Lek M, MacArthur D, Granzier H, et al. Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement Neuromuscular Disorders. 26. DOI: 10.1016/J.Nmd.2016.06.018 |
0.382 |
|
| 2015 |
Rouillon J, Poupiot J, Zocevic A, Amor F, Léger T, Garcia C, Camadro JM, Wong B, Pinilla R, Cosette J, Coenen-Stass AM, McClorey G, Roberts TC, Wood MJ, Servais L, ... ... Richard I, et al. Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies. Human Molecular Genetics. PMID 26060189 DOI: 10.1093/Hmg/Ddv214 |
0.378 |
|
| 2015 |
Pryadkina M, Lostal W, Bourg N, Charton K, Roudaut C, Hirsch ML, Richard I. A comparison of AAV strategies distinguishes overlapping vectors for efficient systemic delivery of the 6.2 kb Dysferlin coding sequence. Molecular Therapy. Methods & Clinical Development. 2: 15009. PMID 26029720 DOI: 10.1038/mtm.2015.9 |
0.309 |
|
| 2015 |
Charton K, Sarparanta J, Vihola A, Milic A, Jonson PH, Suel L, Luque H, Boumela I, Richard I, Udd B. CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy. Human Molecular Genetics. 24: 3718-31. PMID 25877298 DOI: 10.1093/Hmg/Ddv116 |
0.41 |
|
| 2015 |
Avila-Polo R, Malfatti E, Nelson I, Nectoux J, Böhm J, Abath-Neto O, Eymard B, Monges S, Lubieniecki F, Brochier G, Beuvin M, Madelaine A, Labasse C, Taratuto A, Udd B, ... Richard I, et al. Highly variable skeletal muscle histo-immunocytochemical and ultrastructural features in titin-related myopathies Neuromuscular Disorders. 25. DOI: 10.1016/J.Nmd.2015.06.363 |
0.37 |
|
| 2015 |
Vihola A, Charton K, Sarparanta J, Jonson P, Richard I, Udd B. The FINmaj mutation in TTN induces the loss of several protein domains from titin C-terminus Neuromuscular Disorders. 25. DOI: 10.1016/J.Nmd.2015.06.340 |
0.304 |
|
| 2014 |
Nectoux J, Cid Rd, Baulande S, Leturcq F, Urtizberea JA, Penisson-Besnier I, Pakleza AN, Roudaut C, Criqui A, Orhant L, Peyroulan D, Yaou RB, Nelson I, Arné-Bes MC, Nitschke P, ... ... Richard I, et al. G.P.281 Neuromuscular Disorders. 24: 901-902. DOI: 10.1016/J.Nmd.2014.06.357 |
0.373 |
|
| 2014 |
Gicquel E, Richard I. G.P.279 Neuromuscular Disorders. 24: 901. DOI: 10.1016/J.Nmd.2014.06.355 |
0.469 |
|
| 2014 |
Charton K, Sarparanta J, Vihola A, Suel L, Daniele N, Hackman P, Udd B, Richard I. G.P.229 Neuromuscular Disorders. 24: 885. DOI: 10.1016/J.Nmd.2014.06.305 |
0.428 |
|
| 2013 |
Hirsch ML, Li C, Bellon I, Yin C, Chavala S, Pryadkina M, Richard I, Samulski RJ. Oversized AAV transductifon is mediated via a DNA-PKcs-independent, Rad51C-dependent repair pathway. Molecular Therapy : the Journal of the American Society of Gene Therapy. 21: 2205-16. PMID 23939025 DOI: 10.1038/Mt.2013.184 |
0.316 |
|
| 2013 |
Roudaut C, Le Roy F, Suel L, Poupiot J, Charton K, Bartoli M, Richard I. Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy. Circulation. 128: 1094-104. PMID 23908349 DOI: 10.1161/Circulationaha.113.001340 |
0.611 |
|
| 2013 |
Monjaret F, Suel-Petat L, Bourg-Alibert N, Vihola A, Marchand S, Roudaut C, Gicquel E, Udd B, Richard I, Charton K. The phenotype of dysferlin-deficient mice is not rescued by adeno-associated virus-mediated transfer of anoctamin 5. Human Gene Therapy. Clinical Development. 24: 65-76. PMID 23721401 DOI: 10.1089/humc.2012.217 |
0.319 |
|
| 2013 |
Biondi O, Villemeur M, Marchand A, Chretien F, Bourg N, Gherardi RK, Richard I, Authier FJ. Dual effects of exercise in dysferlinopathy. The American Journal of Pathology. 182: 2298-309. PMID 23624156 DOI: 10.1016/J.Ajpath.2013.02.045 |
0.337 |
|
| 2013 |
Blandin G, Marchand S, Charton K, Danièle N, Gicquel E, Boucheteil JB, Bentaib A, Barrault L, Stockholm D, Bartoli M, Richard I. A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. Skeletal Muscle. 3: 3. PMID 23414517 DOI: 10.1186/2044-5040-3-3 |
0.589 |
|
| 2013 |
Sarparanta J, Charton K, Luque H, Jonson PH, Richard I, Udd B. P.3.12 Characterization of CAPN3-dependent proteolysis of C-terminal titin Neuromuscular Disorders. 23: 759. DOI: 10.1016/J.Nmd.2013.06.437 |
0.359 |
|
| 2013 |
Evila A, Vihola A, Sarparanta J, Raheem O, Sandell S, Eymard B, Illa I, Rojas-Garcia R, Hankiewicz K, Negrao L, Lopponen T, Nokelainen P, Karppa M, Penttila S, Screen M, ... ... Richard I, et al. P.3.11 Atypical phenotypes in titinopathies explained by second titin mutations and compound heterozygosity Neuromuscular Disorders. 23: 758-759. DOI: 10.1016/J.Nmd.2013.06.436 |
0.393 |
|
| 2013 |
Joubert R, Moal C, Vignaud A, Martin S, Richard I, Moullier P, Beggs AH, Childers MK, Mavilio F, Buj-Bello A. O.6 Restricting MTM1 transgene expression to skeletal muscle in AAV-mediated gene therapy for myotubular myopathy Neuromuscular Disorders. 23: 741. DOI: 10.1016/J.Nmd.2013.06.384 |
0.434 |
|
| 2012 |
Lostal W, Bartoli M, Roudaut C, Bourg N, Krahn M, Pryadkina M, Borel P, Suel L, Roche JA, Stockholm D, Bloch RJ, Levy N, Bashir R, Richard I. Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy. Plos One. 7: e38036. PMID 22666441 DOI: 10.1371/Journal.Pone.0038036 |
0.599 |
|
| 2012 |
Soheili T, Gicquel E, Poupiot J, N'Guyen L, Le Roy F, Bartoli M, Richard I. Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. Human Mutation. 33: 429-39. PMID 22095924 DOI: 10.1002/Humu.21659 |
0.608 |
|
| 2012 |
Blandin G, Marchand S, Charton K, Daniele N, Gicquel E, Stockholm D, Bartoli M, Richard I. G.O.3 A human skeletal muscle interactome centered on proteins involved in muscular dystrophies Neuromuscular Disorders. 22: 873. DOI: 10.1016/J.Nmd.2012.06.234 |
0.603 |
|
| 2012 |
Nelson I, Allamand V, Yaou RB, Baulande S, Criqui A, Ibeas RDC, Richard I, Richard P, Voit T, Lévy N, Bonne G. D.P.2 Next generation sequencing after selected DNA capture as a tool for molecular diagnosis of neuromuscular disorders Neuromuscular Disorders. 22: 807-808. DOI: 10.1016/J.Nmd.2012.06.022 |
0.334 |
|
| 2011 |
Poupiot J, Ausseil J, Richard I. Methods for noninvasive monitoring of muscle fiber survival with an AAV vector encoding the mSEAP reporter gene. Methods in Molecular Biology (Clifton, N.J.). 709: 63-74. PMID 21194021 DOI: 10.1007/978-1-61737-982-6_4 |
0.435 |
|
| 2011 |
Schoewel V, Adams S, Herrmann C, Zacharias U, Boschmann M, Richard I, Spuler S. P2.55 Mstn/Dysf double knockout mice gain muscle mass but no strength Neuromuscular Disorders. 21: 676-677. DOI: 10.1016/J.Nmd.2011.06.877 |
0.366 |
|
| 2010 |
Krahn M, Wein N, Bartoli M, Lostal W, Courrier S, Bourg-Alibert N, Nguyen K, Vial C, Streichenberger N, Labelle V, DePetris D, Pécheux C, Leturcq F, Cau P, Richard I, et al. A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy. Science Translational Medicine. 2: 50ra69. PMID 20861509 DOI: 10.1126/Scitranslmed.3000951 |
0.585 |
|
| 2010 |
Laure L, Danièle N, Suel L, Marchand S, Aubert S, Bourg N, Roudaut C, Duguez S, Bartoli M, Richard I. A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor-κB pathway in skeletal muscle. The Febs Journal. 277: 4322-37. PMID 20860623 DOI: 10.1111/J.1742-4658.2010.07820.X |
0.576 |
|
| 2010 |
Charton K, Danièle N, Vihola A, Roudaut C, Gicquel E, Monjaret F, Tarrade A, Sarparanta J, Udd B, Richard I. Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies. Human Molecular Genetics. 19: 4608-24. PMID 20855473 DOI: 10.1093/Hmg/Ddq388 |
0.427 |
|
| 2010 |
Sarparanta J, Blandin G, Charton K, Vihola A, Marchand S, Milic A, Hackman P, Ehler E, Richard I, Udd B. Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. The Journal of Biological Chemistry. 285: 30304-15. PMID 20634290 DOI: 10.1074/Jbc.M110.108720 |
0.353 |
|
| 2010 |
Lostal W, Bartoli M, Bourg N, Roudaut C, Bentaïb A, Miyake K, Guerchet N, Fougerousse F, McNeil P, Richard I. Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer. Human Molecular Genetics. 19: 1897-907. PMID 20154340 DOI: 10.1093/Hmg/Ddq065 |
0.603 |
|
| 2010 |
Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, Mahjneh I, et al. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. American Journal of Human Genetics. 86: 213-21. PMID 20096397 DOI: 10.1016/J.Nmd.2010.07.131 |
0.41 |
|
| 2010 |
Fayssoil A, Renault G, Guerchet N, Richard I, Fougerousse F. 263 Cardiac characterization of sgca-null mouse, a model of alpha-sarcoglycanopathy, by using echocardiography Archives of Cardiovascular Diseases Supplements. 2: 85. DOI: 10.1016/S1878-6480(10)70265-2 |
0.306 |
|
| 2010 |
Marlow G, Bolduc V, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen W, Mahjneh I, et al. P13 Identification of a novel group of muscular dystrophies, the Anoctaminopathies, caused by recessive mutations in the putative calcium activated chloride channel, ANO5 Neuromuscular Disorders. 20. DOI: 10.1016/S0960-8966(10)70028-6 |
0.314 |
|
| 2009 |
Bertipaglia I, Bourg N, Richard I, Pahlman AK, Andersson L, James P, Carafoli E. A proteomic study of calpain-3 and its involvement in limb girdle muscular dystrophy type 2a. Cell Calcium. 46: 356-63. PMID 19926129 DOI: 10.1016/J.Ceca.2009.10.003 |
0.426 |
|
| 2009 |
Le Roy F, Charton K, Lorson CL, Richard I. RNA-targeting approaches for neuromuscular diseases. Trends in Molecular Medicine. 15: 580-91. PMID 19906562 DOI: 10.1016/J.Molmed.2009.10.005 |
0.344 |
|
| 2009 |
Mellgren RL, Miyake K, Kramerova I, Spencer MJ, Bourg N, Bartoli M, Richard I, Greer PA, McNeil PL. Calcium-dependent plasma membrane repair requires m- or mu-calpain, but not calpain-3, the proteasome, or caspases. Biochimica Et Biophysica Acta. 1793: 1886-93. PMID 19781581 DOI: 10.1016/J.Bbamcr.2009.09.013 |
0.514 |
|
| 2009 |
Verburg E, Murphy RM, Richard I, Lamb GD. Involvement of calpains in Ca2+-induced disruption of excitation-contraction coupling in mammalian skeletal muscle fibers. American Journal of Physiology. Cell Physiology. 296: C1115-22. PMID 19295178 DOI: 10.1152/Ajpcell.00008.2009 |
0.325 |
|
| 2009 |
Laure L, Suel L, Roudaut C, Bourg N, Ouali A, Bartoli M, Richard I, Danièle N. Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodelling. The Febs Journal. 276: 669-84. PMID 19143834 DOI: 10.1111/J.1742-4658.2008.06814.X |
0.62 |
|
| 2009 |
Krahn M, Béroud C, Labelle V, Nguyen K, Bernard R, Bassez G, Figarella-Branger D, Fernandez C, Bouvenot J, Richard I, Ollagnon-Roman E, Bevilacqua JA, Salvo E, Attarian S, Chapon F, et al. Analysis of the DYSF mutational spectrum in a large cohort of patients. Human Mutation. 30: E345-75. PMID 18853459 DOI: 10.1002/Humu.20910 |
0.377 |
|
| 2009 |
Lostal W, Bartoli M, Bourg N, Roudaut C, Bentaib A, Guerchet N, Fougerousse F, McNeil P, Richard I. T.O.2 Efficient recovery of dysferlin deficiency by dual adeno associated vector mediated gene transfer Neuromuscular Disorders. 19: 659. DOI: 10.1016/J.Nmd.2009.06.357 |
0.501 |
|
| 2008 |
Hackman P, Marchand S, Sarparanta J, Vihola A, Pénisson-Besnier I, Eymard B, Pardal-Fernández JM, Hammouda el-H, Richard I, Illa I, Udd B. Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). Neuromuscular Disorders : Nmd. 18: 922-8. PMID 18948003 DOI: 10.1016/J.Nmd.2008.07.010 |
0.357 |
|
| 2008 |
Bartoli M, Gicquel E, Barrault L, Soheili T, Malissen M, Malissen B, Vincent-Lacaze N, Perez N, Udd B, Danos O, Richard I. Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation. Human Molecular Genetics. 17: 1214-21. PMID 18252745 DOI: 10.1093/Hmg/Ddn029 |
0.604 |
|
| 2008 |
Benayoun B, Baghdiguian S, Lajmanovich A, Bartoli M, Daniele N, Gicquel E, Bourg N, Raynaud F, Pasquier MA, Suel L, Lochmuller H, Lefranc G, Richard I. NF-kappaB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 22: 1521-9. PMID 18073330 DOI: 10.1096/Fj.07-8701Com |
0.586 |
|
| 2008 |
Krahn M, Lévy N, Danièle N, Richard I, Bartoli M. Novel therapeutic strategies for muscular dystrophies | Nouvelles stratégies thérapeutiques des dystrophies musculaires Revue Du Rhumatisme (Edition Francaise). 75: 181-186. DOI: 10.1016/J.Rhum.2007.12.001 |
0.53 |
|
| 2008 |
Campana-Salort E, Krahn M, Bartoli M, Richard I, Pouget J, Levy N. Limb girdle muscular dystrophies: Diagnosis strategy, molecular bases | Dystrophies musculaires des ceintures : stratégie diagnostique, bases moléculaires Revue Du Rhumatisme (Edition Francaise). 75: 142-150. DOI: 10.1016/J.Rhum.2007.10.617 |
0.519 |
|
| 2008 |
Richard I, Bartoli M, Gicquel E, Barrault L, Soheili T, Malissen M, Malissen B, Udd B, Danos O. G.P.8.12 Mannosidase I inhibition rescues the human α-sarcoglycan R77C recurrent mutation Neuromuscular Disorders. 18: 785. DOI: 10.1016/J.Nmd.2008.06.211 |
0.526 |
|
| 2008 |
Krahn M, Wein N, Lostal W, Bourg-Alibert N, Nguyen K, Courrier S, Vial C, Labelle V, Petris DD, Borges A, Mattei M, Roudaut C, Miyake K, McNeil P, Cau P, ... ... Richard I, et al. G.O.5 Partial functionality of a Mini-dysferlin molecule identified in a patient affected with moderately severe primary dysferlinopathy Neuromuscular Disorders. 18: 781. DOI: 10.1016/J.Nmd.2008.06.198 |
0.487 |
|
| 2007 |
Fougerousse F, Bartoli M, Poupiot J, Arandel L, Durand M, Guerchet N, Gicquel E, Danos O, Richard I. Phenotypic Correction of α-Sarcoglycan Deficiency by Intra-arterial Injection of a Muscle-specific Serotype 1 rAAV Vector. Molecular Therapy : the Journal of the American Society of Gene Therapy. 15: 53-61. PMID 28182933 DOI: 10.1038/Sj.Mt.6300022 |
0.584 |
|
| 2007 |
Carmignac V, Salih MA, Quijano-Roy S, Marchand S, Al Rayess MM, Mukhtar MM, Urtizberea JA, Labeit S, Guicheney P, Leturcq F, Gautel M, Fardeau M, Campbell KP, Richard I, Estournet B, et al. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Annals of Neurology. 61: 340-51. PMID 17444505 DOI: 10.1002/Ana.21089 |
0.434 |
|
| 2007 |
Danièle N, Richard I, Bartoli M. Ins and outs of therapy in limb girdle muscular dystrophies. The International Journal of Biochemistry & Cell Biology. 39: 1608-24. PMID 17339125 DOI: 10.1016/J.Biocel.2007.02.005 |
0.613 |
|
| 2007 |
Bartoli M, Poupiot J, Vulin A, Fougerousse F, Arandel L, Daniele N, Roudaut C, Noulet F, Garcia L, Danos O, Richard I. AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alpha-sarcoglycan deficiency. Gene Therapy. 14: 733-40. PMID 17330087 DOI: 10.1038/Sj.Gt.3302928 |
0.629 |
|
| 2007 |
Milic A, Daniele N, Lochmüller H, Mora M, Comi GP, Moggio M, Noulet F, Walter MC, Morandi L, Poupiot J, Roudaut C, Bittner RE, Bartoli M, Richard I. A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay. Neuromuscular Disorders : Nmd. 17: 148-56. PMID 17236769 DOI: 10.1016/J.Nmd.2006.11.001 |
0.585 |
|
| 2007 |
Fougerousse F, Bartoli M, Poupiot J, Arandel L, Durand M, Guerchet N, Gicquel E, Danos O, Richard I. Phenotypic correction of alpha-sarcoglycan deficiency by intra-arterial injection of a muscle-specific serotype 1 rAAV vector. Molecular Therapy : the Journal of the American Society of Gene Therapy. 15: 53-61. PMID 17164775 DOI: 10.1038/sj.mt.6300022 |
0.533 |
|
| 2007 |
Jaiswal JK, Marlow G, Summerill G, Mahjneh I, Mueller S, Hill M, Miyake K, Haase H, Anderson LV, Richard I, Kiuru-Enari S, McNeil PL, Simon SM, Bashir R. Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect. Traffic (Copenhagen, Denmark). 8: 77-88. PMID 17132147 DOI: 10.1111/J.1600-0854.2006.00505.X |
0.372 |
|
| 2007 |
Sarparanta J, Vihola A, Hackman P, Richard I, Udd B. G.P.17.03 Altered proteolysis of C-terminal titin caused by TMD/LGMD2J mutations Neuromuscular Disorders. 17: 884. DOI: 10.1016/J.Nmd.2007.06.409 |
0.323 |
|
| 2007 |
Hackman P, Marchand S, Pénisson-Besnier I, Hammouda E, Illa I, Eymard B, Pardal-Fernandez J, Richard I, Udd B. G.P.17.02 New c-terminal titin mutations in Europeans with tibial muscular dystrophy (TMD) Neuromuscular Disorders. 17: 884. DOI: 10.1016/J.Nmd.2007.06.408 |
0.33 |
|
| 2007 |
Krahn M, Wein N, Nguyen K, Vial C, Courrier S, Lostal W, Bartoli M, Labelle V, Leturcq F, Cau P, Richard I, Levy N. G.P.4.10 Functional evaluation of a putative mini-dysferlin identified in a patient with moderate Miyoshi myopathy phenotype Neuromuscular Disorders. 17: 790. DOI: 10.1016/J.Nmd.2007.06.102 |
0.521 |
|
| 2006 |
Bartoli M, Bourg N, Stockholm D, Raynaud F, Delevacque A, Han Y, Borel P, Seddik K, Armande N, Richard I. A mouse model for monitoring calpain activity under physiological and pathological conditions. The Journal of Biological Chemistry. 281: 39672-80. PMID 17056592 DOI: 10.1074/Jbc.M608803200 |
0.488 |
|
| 2006 |
Duguez S, Bartoli M, Richard I. Calpain 3: a key regulator of the sarcomere? The Febs Journal. 273: 3427-36. PMID 16884488 DOI: 10.1111/J.1742-4658.2006.05351.X |
0.627 |
|
| 2006 |
Bartoli M, Roudaut C, Martin S, Fougerousse F, Suel L, Poupiot J, Gicquel E, Noulet F, Danos O, Richard I. Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A. Molecular Therapy : the Journal of the American Society of Gene Therapy. 13: 250-9. PMID 16290124 DOI: 10.1016/J.Ymthe.2005.09.017 |
0.604 |
|
| 2006 |
Bartoli M, Poupiot J, Goyenvalle A, Perez N, Garcia L, Danos O, Richard I. Noninvasive monitoring of therapeutic gene transfer in animal models of muscular dystrophies. Gene Therapy. 13: 20-8. PMID 16107863 DOI: 10.1038/Sj.Gt.3302594 |
0.627 |
|
| 2006 |
Bartoli M, Poupiot J, Fougerousse F, Arandel L, Daniele N, Noulet F, Vulin A, Garcia L, Danos O, Richard I. T.P.1 07 Therapeutic benefit of AAV-mediated injection of a mutated propeptide of myostatin in calpain 3 deficient mice Neuromuscular Disorders. 16: 686. DOI: 10.1016/J.Nmd.2006.05.143 |
0.542 |
|
| 2006 |
Hackman P, Marchand S, Pénisson-Besnier I, Hammouda E-, Illa I, Eymard B, Pardal-Fernandez JM, Richard I, Udd B. P.P.3 06 New c-terminal titin mutations in tibial muscular dystrophy Neuromuscular Disorders. 16: 674. DOI: 10.1016/J.Nmd.2006.05.107 |
0.318 |
|
| 2005 |
Bartoli M, Richard I. Calpains in muscle wasting. The International Journal of Biochemistry & Cell Biology. 37: 2115-33. PMID 16125114 DOI: 10.1016/J.Biocel.2004.12.012 |
0.618 |
|
| 2005 |
Lange S, Xiang F, Yakovenko A, Vihola A, Hackman P, Rostkova E, Kristensen J, Brandmeier B, Franzen G, Hedberg B, Gunnarsson LG, Hughes SM, Marchand S, Sejersen T, Richard I, et al. The kinase domain of titin controls muscle gene expression and protein turnover. Science (New York, N.Y.). 308: 1599-603. PMID 15802564 DOI: 10.1126/Science.1110463 |
0.387 |
|
| 2005 |
Udd B, Vihola A, Sarparanta J, Richard I, Hackman P. Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. Neurology. 64: 636-42. PMID 15728284 DOI: 10.1212/01.Wnl.0000151853.50144.82 |
0.342 |
|
| 2005 |
Stockholm D, Bartoli M, Sillon G, Bourg N, Davoust J, Richard I. Imaging calpain protease activity by multiphoton FRET in living mice. Journal of Molecular Biology. 346: 215-22. PMID 15663939 DOI: 10.1016/J.Jmb.2004.11.039 |
0.527 |
|
| 2004 |
Taveau M, Stockholm D, Marchand S, Roudaut C, Le Bert M, Richard I. Bidirectional transcriptional activity of the Pgk1 promoter and transmission ratio distortion in Capn3-deficient mice. Genomics. 84: 592-5. PMID 15498466 DOI: 10.1016/J.Ygeno.2004.04.011 |
0.342 |
|
| 2003 |
Taveau M, Bourg N, Sillon G, Roudaut C, Bartoli M, Richard I. Calpain 3 is activated through autolysis within the active site and lyses sarcomeric and sarcolemmal components. Molecular and Cellular Biology. 23: 9127-35. PMID 14645524 DOI: 10.1128/Mcb.23.24.9127-9135.2003 |
0.552 |
|
| 2003 |
Fougerousse F, Gonin P, Durand M, Richard I, Raymackers JM. Force impairment in calpain 3-deficient mice is not correlated with mechanical disruption. Muscle & Nerve. 27: 616-23. PMID 12707983 DOI: 10.1002/Mus.10368 |
0.381 |
|
| 2003 |
Combaret L, Béchet D, Claustre A, Taillandier D, Richard I, Attaix D. Down-regulation of genes in the lysosomal and ubiquitin-proteasome proteolytic pathways in calpain-3-deficient muscle. The International Journal of Biochemistry & Cell Biology. 35: 676-84. PMID 12672459 DOI: 10.1016/S1357-2725(02)00357-6 |
0.438 |
|
| 2002 |
Féasson L, Stockholm D, Freyssenet D, Richard I, Duguez S, Beckmann JS, Denis C. Molecular adaptations of neuromuscular disease‐associated proteins in response to eccentric exercise in human skeletal muscle The Journal of Physiology. 543: 297-306. PMID 12181300 DOI: 10.1113/Jphysiol.2002.018689 |
0.365 |
|
| 2002 |
Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, Witt C, Peltonen L, Richard I, Udd B. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. American Journal of Human Genetics. 71: 492-500. PMID 12145747 DOI: 10.1086/342380 |
0.333 |
|
| 2002 |
Spencer MJ, Guyon JR, Sorimachi H, Potts A, Richard I, Herasse M, Chamberlain J, Dalkilic I, Kunkel LM, Beckmann JS. Stable expression of calpain 3 from a muscle transgene in vivo: immature muscle in transgenic mice suggests a role for calpain 3 in muscle maturation. Proceedings of the National Academy of Sciences of the United States of America. 99: 8874-9. PMID 12084932 DOI: 10.1073/Pnas.132269299 |
0.43 |
|
| 2001 |
Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, ... ... Richard I, et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Human Molecular Genetics. 10: 2851-9. PMID 11741828 DOI: 10.1093/hmg/10.25.2851 |
0.336 |
|
| 2001 |
Baghdiguian S, Richard I, Martin M, Coopman P, Beckmann JS, Mangeat P, Lefranc G. Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle. Journal of Molecular Medicine (Berlin, Germany). 79: 254-61. PMID 11485017 DOI: 10.1007/S001090100225 |
0.422 |
|
| 2001 |
Aoki M, Liu J, Richard I, Bashir R, Britton S, Keers SM, Oeltjen J, Brown HE, Marchand S, Bourg N, Beley C, McKenna-Yasek D, Arahata K, Bohlega S, Cupler E, et al. Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology. 57: 271-8. PMID 11468312 DOI: 10.1212/Wnl.57.2.271 |
0.419 |
|
| 2001 |
Stockholm D, Herasse M, Marchand S, Praud C, Roudaut C, Richard I, Sebille A, Beckmann JS. Calpain 3 mRNA expression in mice after denervation and during muscle regeneration. American Journal of Physiology. Cell Physiology. 280: C1561-9. PMID 11350751 DOI: 10.1152/Ajpcell.2001.280.6.C1561 |
0.404 |
|
| 2001 |
Haravuori H, Vihola A, Straub V, Auranen M, Richard I, Marchand S, Voit T, Labeit S, Somer H, Peltonen L, Beckmann JS, Udd B. Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology. 56: 869-77. PMID 11294923 DOI: 10.1212/Wnl.56.7.869 |
0.432 |
|
| 2001 |
Talim B, Ognibene A, Mattioli E, Richard I, Anderson LV, Merlini L. Normal calpain expression in genetically confirmed limb-girdle muscular dystrophy type 2A. Neurology. 56: 692-3. PMID 11245732 DOI: 10.1212/Wnl.56.5.692-A |
0.469 |
|
| 2000 |
Richard I, Roudaut C, Marchand S, Baghdiguian S, Herasse M, Stockholm D, Ono Y, Suel L, Bourg N, Sorimachi H, Lefranc G, Fardeau M, Sébille A, Beckmann JS. Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice. The Journal of Cell Biology. 151: 1583-90. PMID 11134085 DOI: 10.1083/Jcb.151.7.1583 |
0.459 |
|
| 1999 |
Richard I, Bourg N, Marchand S, Alibert O, Eymard B, van der Kooi AJ, Jackson CE, Garcia C, Burgunder JM, Legum C, de Visser M, Fardeau M, Beckmann JS. A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies. Neuromuscular Disorders : Nmd. 9: 555-63. PMID 10619713 DOI: 10.1016/S0960-8966(99)00037-1 |
0.341 |
|
| 1999 |
Richard I, Roudaut C, Saenz A, Pogue R, Grimbergen JE, Anderson LV, Beley C, Cobo AM, de Diego C, Eymard B, Gallano P, Ginjaar HB, Lasa A, Pollitt C, Topaloglu H, et al. Calpainopathy-a survey of mutations and polymorphisms. American Journal of Human Genetics. 64: 1524-40. PMID 10330340 DOI: 10.1086/302426 |
0.407 |
|
| 1999 |
Herasse M, Ono Y, Fougerousse F, Kimura E, Stockholm D, Beley C, Montarras D, Pinset C, Sorimachi H, Suzuki K, Beckmann JS, Richard I. Expression and functional characteristics of calpain 3 isoforms generated through tissue-specific transcriptional and posttranscriptional events. Molecular and Cellular Biology. 19: 4047-55. PMID 10330145 DOI: 10.1128/Mcb.19.6.4047 |
0.341 |
|
| 1999 |
Federici C, Eshdat Y, Richard I, Bertin B, Guillaume JL, Hattab M, Beckmann JS, Strosberg AD, Camoin L. Purification and identification of two putative autolytic sites in human calpain 3 (p94) expressed in heterologous systems Archives of Biochemistry and Biophysics. 363: 237-245. PMID 10068445 DOI: 10.1006/Abbi.1998.1091 |
0.304 |
|
| 1998 |
Anderson LV, Davison K, Moss JA, Richard I, Fardeau M, Tomé FM, Hübner C, Lasa A, Colomer J, Beckmann JS. Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A. The American Journal of Pathology. 153: 1169-79. PMID 9777948 DOI: 10.1016/S0002-9440(10)65661-1 |
0.311 |
|
| 1998 |
Kawai H, Akaike M, Kunishige M, Inui T, Adachi K, Kimura C, Kawajiri M, Nishida Y, Endo I, Kashiwagi S, Nishino H, Fujiwara T, Okuno S, Roudaut C, Richard I, et al. Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families. Muscle & Nerve. 21: 1493-501. PMID 9771675 DOI: 10.1002/(Sici)1097-4598(199811)21:11<1493::Aid-Mus19>3.0.Co;2-1 |
0.432 |
|
| 1998 |
Urtasun M, Sáenz A, Roudaut C, Poza JJ, Urtizberea JA, Cobo AM, Richard I, García Bragado F, Leturcq F, Kaplan JC, Martí Massó JF, Beckmann JS, López de Munain A. Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain). Brain : a Journal of Neurology. 121: 1735-47. PMID 9762961 DOI: 10.1093/Brain/121.9.1735 |
0.377 |
|
| 1998 |
Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira Ede S, et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nature Genetics. 20: 37-42. PMID 9731527 DOI: 10.1038/1689 |
0.437 |
|
| 1998 |
Ono Y, Shimada H, Sorimachi H, Richard I, Saido TC, Beckmann JS, Ishiura S, Suzuki K. Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A. The Journal of Biological Chemistry. 273: 17073-8. PMID 9642272 DOI: 10.1074/Jbc.273.27.17073 |
0.419 |
|
| 1997 |
Topaloğlu H, Dinçer P, Richard I, Akçören Z, Alehan D, Ozme S, Cağlar M, Karaduman A, Urtizberea JA, Beckmann JS. Calpain-3 deficiency causes a mild muscular dystrophy in childhood. Neuropediatrics. 28: 212-6. PMID 9309711 DOI: 10.1055/S-2007-973702 |
0.349 |
|
| 1997 |
Dinçer P, Leturcq F, Richard I, Piccolo F, Yalnizoglu D, de Toma C, Akçören Z, Broux O, Deburgrave N, Brenguier L, Roudaut C, Urtizberea JA, Jung D, Tan E, Jeanpierre M, et al. A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. Annals of Neurology. 42: 222-9. PMID 9266733 DOI: 10.1002/Ana.410420214 |
0.346 |
|
| 1997 |
Restagno G, Romero N, Richard I, Beckmann JS, Pagliano M, Ferrone M, Carbonara A, Merlini L. Prenatal diagnosis of limb-girdle muscular dystrophy type 2A. Neuromuscular Disorders : Nmd. 6: 173-6. PMID 8784805 DOI: 10.1016/0960-8966(96)00017-X |
0.324 |
|
| 1997 |
Romero NB, Camoin L, Federici C, Richard I, Fougerousse F, Guillaume J, Hattab M, Cheval M, Tomé F, Eshdat Y, Fardeau M, Beckmann J, Strosberg A. Immunofluorescence and Western blot analysis on human skeletal muscle using antibodies directed against different regions of the muscle-specific calpain Neuromuscular Disorders. 7: 442. DOI: 10.1016/S0960-8966(97)87226-4 |
0.382 |
|
| 1997 |
Urtizberea J, Urtasun M, Richard I, Saenz A, Poza J, Cobo A, Lopez de Munain A, Beckmann J. Limb girdle muscular dystrophy with calpain deficiency in Guipuzcoa (Basque country, Spain) Neuromuscular Disorders. 7: 442. DOI: 10.1016/S0960-8966(97)87224-0 |
0.313 |
|
| 1996 |
Beckmann JS, Richard I, Broux O, Fougerousse F, Allamand V, Chiannilkulchai N, Lim LE, Duclos F, Bourg N, Brenguier L, Pasturaud P, Quétier F, Roudaut C, Sunada Y, Meyer J, et al. Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies. Neuromuscular Disorders : Nmd. 6: 455-62. PMID 9027855 DOI: 10.1016/S0960-8966(96)00386-0 |
0.407 |
|
| 1996 |
Fardeau M, Eymard B, Mignard C, Tomé FMS, Richard I, Beckmann JS. Chromosome 15-linked limb-girdle muscular dystrophy: Clinical phenotypes in Reunion Island and French metropolitan communities Neuromuscular Disorders. 6: 447-453. PMID 9027854 DOI: 10.1016/S0960-8966(96)00387-2 |
0.363 |
|
| 1996 |
Richard I, Beckmann JS. Molecular cloning of mouse canp3, the gene associated with limb-girdle muscular dystrophy 2A in human. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 7: 377-9. PMID 8661728 DOI: 10.1007/S003359900108 |
0.319 |
|
| 1996 |
Fardeau M, Hillaire D, Mignard C, Feingold N, Feingold J, Mignard D, de Ubeda B, Collin H, Tome FM, Richard I, Beckmann J. Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island. Brain : a Journal of Neurology. 119: 295-308. PMID 8624690 DOI: 10.1093/Brain/119.1.295 |
0.384 |
|
| 1996 |
Richard I, Brenguier L, Bady B, Fardeau M, Garcia C, Jackson C, Kurnit D, Lefranc G, Legums C, Loiselet J, Merlinil L, Nivelon A, Ollagnon E, Beckmann J. Survey of LGMD2A mutations Neuromuscular Disorders. 6: S9. DOI: 10.1016/0960-8966(96)88964-4 |
0.303 |
|
| 1995 |
Allamand V, Broux O, Bourg N, Richard I, Tischfield JA, Hodes ME, Conneally PM, Fardeau M, Jackson CE, Beckmann JS. Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus. Human Molecular Genetics. 4: 459-63. PMID 7795603 DOI: 10.1093/Hmg/4.3.459 |
0.308 |
|
| 1995 |
Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell. 81: 27-40. PMID 7720071 DOI: 10.1016/0092-8674(95)90368-2 |
0.301 |
|
| 1995 |
Chiannilkulchai N, Pasturaud P, Richard I, Auffray C, Beckmann JS. A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene. Human Molecular Genetics. 4: 717-25. PMID 7633422 DOI: 10.1093/Hmg/4.4.717 |
0.373 |
|
| Show low-probability matches. |