| Year |
Citation |
Score |
| 2023 |
Cardoso D, Barthélémy I, Blot S, Muchir A. Replenishing NAD content reduces aspects of striated muscle disease in a dog model of Duchenne muscular dystrophy. Skeletal Muscle. 13: 20. PMID 38044436 DOI: 10.1186/s13395-023-00328-w |
0.311 |
|
| 2023 |
Chatzifrangkeskou M, Le Dour C, Muchir A. Modulation of cytoskeleton in cardiomyopathy caused by mutations in gene. American Journal of Physiology. Cell Physiology. 324: C1223-C1235. PMID 37125775 DOI: 10.1152/ajpcell.00471.2022 |
0.404 |
|
| 2022 |
Le Dour C, Chatzifrangkeskou M, Macquart C, Magiera MM, Peccate C, Jouve C, Virtanen L, Heliö T, Aalto-Setälä K, Crasto S, Cadot B, Cardoso D, Mougenot N, Adesse D, Di Pasquale E, ... ... Muchir A, et al. Actin-microtubule cytoskeletal interplay mediated by MRTF-A/SRF signaling promotes dilated cardiomyopathy caused by LMNA mutations. Nature Communications. 13: 7886. PMID 36550158 DOI: 10.1038/s41467-022-35639-x |
0.471 |
|
| 2022 |
Kervella M, Jahier M, Meli AC, Muchir A. Genome organization in cardiomyocytes expressing mutated A-type lamins. Frontiers in Cell and Developmental Biology. 10: 1030950. PMID 36274847 DOI: 10.3389/fcell.2022.1030950 |
0.426 |
|
| 2021 |
Vignier N, Chatzifrangkeskou M, Pinton L, Wioland H, Marais T, Lemaitre M, Le Dour C, Peccate C, Cardoso D, Schmitt A, Wu W, Biferi MG, Naouar N, Macquart C, Beuvin M, ... ... Muchir A, et al. The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies. Cell Reports. 36: 109601. PMID 34433058 DOI: 10.1016/j.celrep.2021.109601 |
0.567 |
|
| 2021 |
Dridi H, Wu W, Reiken SR, Ofer RM, Liu Y, Yuan Q, Sittenfeld L, Kushner J, Muchir A, Worman HJ, Marks AR. Ryanodine receptor remodeling in cardiomyopathy and muscular dystrophy caused by lamin A/C gene mutation. Human Molecular Genetics. PMID 33388782 DOI: 10.1093/hmg/ddaa278 |
0.658 |
|
| 2020 |
Elouej S, Harhouri K, Le Mao M, Baujat G, Nampoothiri S, Kayserili H, Menabawy NA, Selim L, Paneque AL, Kubisch C, Lessel D, Rubinsztajn R, Charar C, Bartoli C, Airault C, ... ... Muchir A, et al. Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology. Nature Communications. 11: 4589. PMID 32917887 DOI: 10.1038/S41467-020-18146-9 |
0.392 |
|
| 2020 |
Chatzifrangkeskou M, Kah D, Lange JR, Goldmann WH, Muchir A. Mutated lamin A modulates stiffness in muscle cells. Biochemical and Biophysical Research Communications. PMID 32540097 DOI: 10.1016/J.Bbrc.2020.05.102 |
0.445 |
|
| 2020 |
Morales Rodriguez B, Domínguez-Rodríguez A, Benitah JP, Lefebvre F, Marais T, Mougenot N, Beauverger P, Bonne G, Briand V, Gómez AM, Muchir A. Activation of sarcolipin expression and altered calcium cycling in cardiomyopathy. Biochemistry and Biophysics Reports. 22: 100767. PMID 32490213 DOI: 10.1016/J.Bbrep.2020.100767 |
0.503 |
|
| 2020 |
Forand A, Muchir A, Mougenot N, Sevoz-Couche C, Peccate C, Lemaitre M, Izabelle C, Wood M, Lorain S, Piétri-Rouxel F. Combined Treatment with Peptide-Conjugated Phosphorodiamidate Morpholino Oligomer-PPMO and AAV-U7 Rescues the Severe DMD Phenotype in Mice. Molecular Therapy. Methods & Clinical Development. 17: 695-708. PMID 32346547 DOI: 10.1016/J.Omtm.2020.03.011 |
0.402 |
|
| 2019 |
Angelini A, Gorey MA, Dumont F, Mougenot N, Chatzifrangkeskou M, Muchir A, Li Z, Mericskay M, Decaux JF. Cardioprotective effects of α-cardiac actin on oxidative stress in a dilated cardiomyopathy mouse model. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. PMID 31908029 DOI: 10.1096/Fj.201902389R |
0.392 |
|
| 2019 |
Joseph LC, Avula UMR, Wan EY, Reyes MV, Lakkadi KR, Subramanyam P, Nakanishi K, Homma S, Muchir A, Pajvani UB, Thorp EB, Reiken SR, Marks AR, Colecraft HM, Morrow JP. Dietary Saturated Fat Promotes Arrhythmia by Activating NOX2 (NADPH Oxidase 2). Circulation. Arrhythmia and Electrophysiology. 12: e007573. PMID 31665913 DOI: 10.1161/Circep.119.007573 |
0.302 |
|
| 2019 |
Muchir A, Worman HJ. Emery-Dreifuss muscular dystrophy: focal point nuclear envelope. Current Opinion in Neurology. 32: 728-734. PMID 31460960 DOI: 10.1097/Wco.0000000000000741 |
0.6 |
|
| 2019 |
Vignier N, Mougenot N, Bonne G, Muchir A. Effect of genetic background on the cardiac phenotype in a mouse model of Emery-Dreifuss muscular dystrophy. Biochemistry and Biophysics Reports. 19: 100664. PMID 31341969 DOI: 10.1016/J.Bbrep.2019.100664 |
0.528 |
|
| 2019 |
Thomasson R, Vignier N, Peccate C, Mougenot N, Noirez P, Muchir A. Alteration of performance in a mouse model of Emery-Dreifuss muscular dystrophy caused by A-type lamins gene mutation. Human Molecular Genetics. 28: 2237-2244. PMID 31220270 DOI: 10.1093/Hmg/Ddz056 |
0.563 |
|
| 2018 |
Brull A, Morales Rodriguez B, Bonne G, Muchir A, Bertrand AT. The Pathogenesis and Therapies of Striated Muscle Laminopathies. Frontiers in Physiology. 9: 1533. PMID 30425656 DOI: 10.3389/Fphys.2018.01533 |
0.374 |
|
| 2018 |
Vignier N, Chatzifrangkeskou M, Rodriguez BM, Mericskay M, Mougenot N, Bonne G, Muchir A. Rescue of biosynthesis of nicotinamide adenine dinucleotide (NAD+) protects the heart in cardiomyopathy caused by lamin A/C gene mutation. Human Molecular Genetics. PMID 30053027 DOI: 10.1093/hmg/ddy278 |
0.464 |
|
| 2018 |
Rodriguez BM, Khouzami L, Decostre V, Varnous S, Pekovic-Vaughan V, Hutchison CJ, Pecker F, Bonne G, Muchir A. N-acetyl cysteine alleviates oxidative stress and protects mice from dilated cardiomyopathy caused by mutations in nuclear A-type lamins gene. Human Molecular Genetics. PMID 29982513 DOI: 10.1093/hmg/ddy243 |
0.412 |
|
| 2018 |
Macquart C, Jüttner R, Le Dour C, Chatzifrangkeskou M, Schmitt A, Gotthardt M, Bonne G, Muchir A. Microtubule cytoskeleton regulates connexin 43 localization and cardiac conduction in cardiomyopathy caused by mutation in A-type lamins gene. Human Molecular Genetics. PMID 29893868 DOI: 10.1093/Hmg/Ddy227 |
0.497 |
|
| 2018 |
Chatzifrangkeskou M, Yadin D, Marais T, Chardonnet S, Cohen-Tannoudji M, Mougenot N, Schmitt A, Crasto S, Di Pasquale E, Macquart C, Tanguy Y, Jebeniani I, Pucéat M, Morales Rodriguez B, Goldmann WH, ... ... Muchir A, et al. Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation. Human Molecular Genetics. PMID 29878125 DOI: 10.1093/Hmg/Ddy215 |
0.668 |
|
| 2018 |
Cavallari E, Carrera C, Sorge M, Bonne G, Muchir A, Aime S, Reineri F. The C hyperpolarized pyruvate generated by ParaHydrogen detects the response of the heart to altered metabolism in real time. Scientific Reports. 8: 8366. PMID 29849091 DOI: 10.1038/S41598-018-26583-2 |
0.342 |
|
| 2018 |
Bernasconi P, Carboni N, Ricci G, Siciliano G, Politano L, Maggi L, Mongini T, Vercelli L, Rodolico C, Biagini E, Boriani G, Ruggiero L, Santoro L, Schena E, Prencipe S, ... ... Muchir A, et al. Elevated TGF β2 serum levels in Emery-Dreifuss muscular dystrophy: implications for myocyte and tenocyte differentiation and fibrogenic processes. Nucleus (Austin, Tex.). 1-24. PMID 29693488 DOI: 10.1080/19491034.2018.1467722 |
0.328 |
|
| 2018 |
Arimura T, Muchir A, Kuwahara M, Morimoto S, Ishikawa T, Du CK, Zhan DY, Nakao S, Machida N, Tanaka R, Yamane Y, Hayashi T, Kimura A. Overexpression of heart-specific small subunit of myosin light chain phosphatase results in heart failure and conduction disturbance. American Journal of Physiology. Heart and Circulatory Physiology. PMID 29451818 DOI: 10.1152/Ajpheart.00696.2017 |
0.509 |
|
| 2017 |
Captur G, Arbustini E, Bonne G, Syrris P, Mills K, Wahbi K, Mohiddin SA, McKenna WJ, Pettit S, Ho CY, Muchir A, Gissen P, Elliott PM, Moon JC. Lamin and the heart. Heart (British Cardiac Society). PMID 29175975 DOI: 10.1136/Heartjnl-2017-312338 |
0.513 |
|
| 2017 |
Le Dour C, Macquart C, Sera F, Homma S, Bonne G, Morrow JP, Worman HJ, Muchir A. Decreased WNT/β-catenin signalling contributes to the pathogenesis of dilated cardiomyopathy caused by mutations in the lamin a/C gene. Human Molecular Genetics. PMID 28069793 DOI: 10.1093/Hmg/Ddw389 |
0.638 |
|
| 2016 |
Wu W, Chordia MD, Hart BP, Kumarasinghe ES, Ji MK, Bhargava A, Lawlor MW, Shin JY, Sera F, Homma S, Muchir A, Khire UR, Worman HJ. Macrocyclic MEK1/2 inhibitor with efficacy in a mouse model of cardiomyopathy caused by lamin A/C gene mutation. Bioorganic & Medicinal Chemistry. PMID 28011205 DOI: 10.1016/J.Bmc.2016.12.014 |
0.777 |
|
| 2016 |
Chatzifrangkeskou M, Le Dour C, Wu W, Morrow JP, Joseph LC, Beuvin M, Sera F, Homma S, Vignier N, Mougenot N, Bonne G, Lipson KE, Worman HJ, Muchir A. ERK1/2 directly acts on CTGF/CCN2 expression to mediate myocardial fibrosis in cardiomyopathy caused by mutations in the lamin A/C gene. Human Molecular Genetics. PMID 27131347 DOI: 10.1093/Hmg/Ddw090 |
0.673 |
|
| 2016 |
Muchir A, Worman HJ. Targeting Mitogen-Activated Protein Kinase Signaling in Mouse Models of Cardiomyopathy Caused by Lamin A/C Gene Mutations. Methods in Enzymology. 568: 557-80. PMID 26795484 DOI: 10.1016/Bs.Mie.2015.07.028 |
0.725 |
|
| 2016 |
Macquart C, Ben Yaou R, Muchir A, Wahbi K, Bonne G. Clinical features and therapeutic strategies for managing the striated muscle laminopathies Expert Opinion On Orphan Drugs. 4: 631-638. DOI: 10.1080/21678707.2016.1180975 |
0.448 |
|
| 2015 |
Chatzifrangkeskou M, Bonne G, Muchir A. Nuclear envelope and striated muscle diseases. Current Opinion in Cell Biology. 32: 1-6. PMID 25290386 DOI: 10.1016/J.Ceb.2014.09.007 |
0.385 |
|
| 2015 |
Muchir A. Investigation of pathomechanisms of ventricular arrhythmias in cardiac laminopathies Orphanet Journal of Rare Diseases. 10. DOI: 10.1186/1750-1172-10-S2-O7 |
0.448 |
|
| 2014 |
Muchir A, Wu W, Sera F, Homma S, Worman HJ. Mitogen-activated protein kinase kinase 1/2 inhibition and angiotensin II converting inhibition in mice with cardiomyopathy caused by lamin A/C gene mutation. Biochemical and Biophysical Research Communications. 452: 958-61. PMID 25218145 DOI: 10.1016/J.Bbrc.2014.09.020 |
0.702 |
|
| 2014 |
Azibani F, Muchir A, Vignier N, Bonne G, Bertrand AT. Striated muscle laminopathies. Seminars in Cell & Developmental Biology. 29: 107-15. PMID 24440603 DOI: 10.1016/J.Semcdb.2014.01.001 |
0.466 |
|
| 2014 |
Wu W, Iwata S, Homma S, Worman HJ, Muchir A. Depletion of extracellular signal-regulated kinase 1 in mice with cardiomyopathy caused by lamin A/C gene mutation partially prevents pathology before isoenzyme activation. Human Molecular Genetics. 23: 1-11. PMID 23933734 DOI: 10.1093/Hmg/Ddt387 |
0.727 |
|
| 2013 |
Muchir A, Kim YJ, Reilly SA, Wu W, Choi JC, Worman HJ. Inhibition of extracellular signal-regulated kinase 1/2 signaling has beneficial effects on skeletal muscle in a mouse model of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutation. Skeletal Muscle. 3: 17. PMID 23815988 DOI: 10.1186/2044-5040-3-17 |
0.731 |
|
| 2013 |
Cattin ME, Muchir A, Bonne G. 'State-of-the-heart' of cardiac laminopathies. Current Opinion in Cardiology. 28: 297-304. PMID 23455585 DOI: 10.1097/Hco.0B013E32835F0C79 |
0.477 |
|
| 2012 |
Choi JC, Wu W, Muchir A, Iwata S, Homma S, Worman HJ. Dual specificity phosphatase 4 mediates cardiomyopathy caused by lamin A/C (LMNA) gene mutation. The Journal of Biological Chemistry. 287: 40513-24. PMID 23048029 DOI: 10.1074/Jbc.M112.404541 |
0.787 |
|
| 2012 |
Frock RL, Chen SC, Da DF, Frett E, Lau C, Brown C, Pak DN, Wang Y, Muchir A, Worman HJ, Santana LF, Ladiges WC, Rabinovitch PS, Kennedy BK. Cardiomyocyte-specific expression of lamin a improves cardiac function in Lmna-/- mice. Plos One. 7: e42918. PMID 22905185 DOI: 10.1371/Journal.Pone.0042918 |
0.605 |
|
| 2012 |
Choi JC, Muchir A, Wu W, Iwata S, Homma S, Morrow JP, Worman HJ. Temsirolimus activates autophagy and ameliorates cardiomyopathy caused by lamin A/C gene mutation. Science Translational Medicine. 4: 144ra102. PMID 22837537 DOI: 10.1126/Scitranslmed.3003875 |
0.775 |
|
| 2012 |
Muchir A, Wu W, Choi JC, Iwata S, Morrow J, Homma S, Worman HJ. Abnormal p38α mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation. Human Molecular Genetics. 21: 4325-33. PMID 22773734 DOI: 10.1093/Hmg/Dds265 |
0.787 |
|
| 2012 |
Muchir A, Reilly SA, Wu W, Iwata S, Homma S, Bonne G, Worman HJ. Treatment with selumetinib preserves cardiac function and improves survival in cardiomyopathy caused by mutation in the lamin A/C gene. Cardiovascular Research. 93: 311-9. PMID 22068161 DOI: 10.1093/Cvr/Cvr301 |
0.699 |
|
| 2012 |
Frock RL, Chen SC, Dai D, Frett E, Lau C, Brown C, Pak DN, Wang Y, Muchir A, Worman HJ, Santana LF, Ladiges WC, Rabinovitch PS, Kennedy BK. Correction: Cardiomyocyte-Specific Expression of Lamin A Improves Cardiac Function in Lmna−/−Mice Plos One. 7. DOI: 10.1371/Annotation/92Be6B32-D8E7-44C2-80A9-21097Ad27965 |
0.554 |
|
| 2011 |
Lu JT, Muchir A, Nagy PL, Worman HJ. LMNA cardiomyopathy: cell biology and genetics meet clinical medicine. Disease Models & Mechanisms. 4: 562-8. PMID 21810905 DOI: 10.1242/Dmm.006346 |
0.664 |
|
| 2011 |
Wu W, Muchir A, Shan J, Bonne G, Worman HJ. Mitogen-activated protein kinase inhibitors improve heart function and prevent fibrosis in cardiomyopathy caused by mutation in lamin A/C gene. Circulation. 123: 53-61. PMID 21173351 DOI: 10.1161/Circulationaha.110.970673 |
0.732 |
|
| 2010 |
Muchir A, Wu W, Worman HJ. Mitogen-activated protein kinase inhibitor regulation of heart function and fibrosis in cardiomyopathy caused by lamin A/C gene mutation. Trends in Cardiovascular Medicine. 20: 217-21. PMID 22293021 DOI: 10.1016/J.Tcm.2011.11.002 |
0.725 |
|
| 2010 |
Muchir A, Worman HJ. Signaling defects and the nuclear envelope in progeria. Developmental Cell. 19: 355-6. PMID 20833355 DOI: 10.1016/J.Devcel.2010.08.019 |
0.581 |
|
| 2010 |
Wu W, Shan J, Bonne G, Worman HJ, Muchir A. Pharmacological inhibition of c-Jun N-terminal kinase signaling prevents cardiomyopathy caused by mutation in LMNA gene. Biochimica Et Biophysica Acta. 1802: 632-8. PMID 20388542 DOI: 10.1016/J.Bbadis.2010.04.001 |
0.734 |
|
| 2009 |
Worman HJ, Fong LG, Muchir A, Young SG. Laminopathies and the long strange trip from basic cell biology to therapy. The Journal of Clinical Investigation. 119: 1825-36. PMID 19587457 DOI: 10.1172/Jci37679 |
0.601 |
|
| 2009 |
Muchir A, Wu W, Worman HJ. Reduced expression of A-type lamins and emerin activates extracellular signal-regulated kinase in cultured cells. Biochimica Et Biophysica Acta. 1792: 75-81. PMID 19022376 DOI: 10.1016/J.Bbadis.2008.10.012 |
0.681 |
|
| 2009 |
Muchir A, Shan J, Bonne G, Lehnart SE, Worman HJ. Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins. Human Molecular Genetics. 18: 241-7. PMID 18927124 DOI: 10.1093/Hmg/Ddn343 |
0.723 |
|
| 2009 |
Muchir A, Wu W, Shan J, Bonne G, Worman H. G.P.15.06 Inhibition of c-Jun N-terminal kinases signaling to prevent cardiomyopathy caused by mutation in LMNA gene Neuromuscular Disorders. 19: 648-649. DOI: 10.1016/J.Nmd.2009.06.325 |
0.652 |
|
| 2007 |
Muchir A, Pavlidis P, Bonne G, Hayashi YK, Worman HJ. Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery Dreifuss muscular dystrophy. Human Molecular Genetics. 16: 1884-95. PMID 17567779 DOI: 10.1093/Hmg/Ddm137 |
0.696 |
|
| 2007 |
Ben Yaou R, Toutain A, Arimura T, Demay L, Massart C, Peccate C, Muchir A, Llense S, Deburgrave N, Leturcq F, Litim KE, Rahmoun-Chiali N, Richard P, Babuty D, Récan-Budiartha D, et al. Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism? Neurology. 68: 1883-94. PMID 17536044 DOI: 10.1212/01.Wnl.0000263138.57257.6A |
0.464 |
|
| 2007 |
Muchir A, Pavlidis P, Decostre V, Herron AJ, Arimura T, Bonne G, Worman HJ. Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy. The Journal of Clinical Investigation. 117: 1282-93. PMID 17446932 DOI: 10.1172/Jci29042 |
0.711 |
|
| 2007 |
Lüdtke A, Buettner J, Wu W, Muchir A, Schroeter A, Zinn-Justin S, Spuler S, Schmidt HH, Worman HJ. Peroxisome proliferator-activated receptor-gamma C190S mutation causes partial lipodystrophy. The Journal of Clinical Endocrinology and Metabolism. 92: 2248-55. PMID 17356052 DOI: 10.1210/Jc.2005-2624 |
0.623 |
|
| 2007 |
Muchir A, Worman HJ. Emery-Dreifuss muscular dystrophy. Current Neurology and Neuroscience Reports. 7: 78-83. PMID 17217858 DOI: 10.1007/S11910-007-0025-3 |
0.657 |
|
| 2007 |
Muchir A, Pavlidis P, Decostre V, Herron A, Arimura T, Hayashi Y, Bonne G, Worman H. G.P.5.10 MAPK signaling pathway is commonly activated in hearts of mouse models of autosomal dominant and X-linked Emery–Dreifuss muscular dystrophy Neuromuscular Disorders. 17: 800. DOI: 10.1016/J.Nmd.2007.06.133 |
0.61 |
|
| 2006 |
Muchir A, Massart C, van Engelen BG, Lammens M, Bonne G, Worman HJ. Proteasome-mediated degradation of integral inner nuclear membrane protein emerin in fibroblasts lacking A-type lamins. Biochemical and Biophysical Research Communications. 351: 1011-7. PMID 17097067 DOI: 10.1016/J.Bbrc.2006.10.147 |
0.602 |
|
| 2005 |
Ben Yaou R, Muchir A, Arimura T, Massart C, Demay L, Richard P, Bonne G. Genetics of laminopathies. Novartis Foundation Symposium. 264: 81-90; discussion 90. PMID 15773749 DOI: 10.1002/0470093765.Ch7 |
0.52 |
|
| 2005 |
van Engelen BG, Muchir A, Hutchison CJ, van der Kooi AJ, Bonne G, Lammens M. The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene. Neurology. 64: 374-6. PMID 15668447 DOI: 10.1212/01.Wnl.0000149763.15180.00 |
0.461 |
|
| 2004 |
Muchir A, Worman HJ. The nuclear envelope and human disease. Physiology (Bethesda, Md.). 19: 309-14. PMID 15381760 DOI: 10.1152/Physiol.00022.2004 |
0.627 |
|
| 2004 |
Muchir A, Medioni J, Laluc M, Massart C, Arimura T, van der Kooi AJ, Desguerre I, Mayer M, Ferrer X, Briault S, Hirano M, Worman HJ, Mallet A, Wehnert M, Schwartz K, et al. Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. Muscle & Nerve. 30: 444-50. PMID 15372542 DOI: 10.1002/Mus.20122 |
0.65 |
|
| 2003 |
Muchir A, van Engelen BG, Lammens M, Mislow JM, McNally E, Schwartz K, Bonne G. Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene. Experimental Cell Research. 291: 352-62. PMID 14644157 DOI: 10.1016/J.Yexcr.2003.07.002 |
0.422 |
|
| 2002 |
Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, et al. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. American Journal of Human Genetics. 71: 426-31. PMID 12075506 DOI: 10.1086/341908 |
0.437 |
|
| 2000 |
Bécane HM, Bonne G, Varnous S, Muchir A, Ortega V, Hammouda EH, Urtizberea JA, Lavergne T, Fardeau M, Eymard B, Weber S, Schwartz K, Duboc D. High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation. Pacing and Clinical Electrophysiology : Pace. 23: 1661-6. PMID 11138304 DOI: 10.1046/J.1460-9592.2000.01661.X |
0.482 |
|
| 2000 |
Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, et al. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Annals of Neurology. 48: 170-80. PMID 10939567 DOI: 10.1002/1531-8249(200008)48:2<170::Aid-Ana6>3.0.Co;2-J |
0.514 |
|
| 2000 |
Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Human Molecular Genetics. 9: 1453-9. PMID 10814726 |
0.349 |
|
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