Alan H. Beggs - Publications

Affiliations: 
Department of Medicine Harvard Medical School, Boston, MA, United States 

79 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Widrick JJ, Kawahara G, Alexander MS, Beggs AH, Kunkel LM. Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens. Journal of Neuromuscular Diseases. PMID 31282429 DOI: 10.3233/JND-190389  0.56
2018 Widrick JJ, Gibbs DE, Sanchez B, Gupta VA, Pakula A, Lawrence C, Beggs AH, Kunkel LM. An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish. Plos One. 13: e0199712. PMID 29944715 DOI: 10.1371/journal.pone.0199712  0.56
2018 Huntoon V, Widrick JJ, Sanchez C, Rosen SM, Kutchukian C, Cao S, Pierson CR, Liu X, Perrella MA, Beggs AH, Jacquemond V, Agrawal PB. SPEG-deficient Skeletal Muscles Exhibit Abnormal Triad and Defective Calcium Handling. Human Molecular Genetics. PMID 29474540 DOI: 10.1093/hmg/ddy068  0.36
2017 Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, ... ... Beggs AH, et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science Translational Medicine. 9. PMID 28424332 DOI: 10.1126/scitranslmed.aal5209  0.56
2016 Widrick JJ, Alexander M, Sanchez B, Gibbs D, Kawahara G, Beggs A, Kunkel L. Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy. Physiological Genomics. physiolgenomics.0008. PMID 27764767 DOI: 10.1152/physiolgenomics.00088.2016  0.36
2016 Tinklenberg J, Meng H, Yang L, Liu F, Hoffmann RG, Dasgupta M, Allen KP, Beggs AH, Hardeman EC, Pearsall RS, Fitts RH, Lawlor MW. Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy. The American Journal of Pathology. PMID 27102768 DOI: 10.1016/j.ajpath.2016.02.008  0.56
2016 de Winter JM, Joureau B, Lee EJ, Kiss B, Yuen M, Gupta VA, Pappas CT, Gregorio CC, Stienen GJ, Edvardson S, Wallgren-Pettersson C, Lehtokari VL, Pelin K, Malfatti E, Romero NB, ... ... Beggs AH, et al. Mutation-specific effects on thin filament length in thin filament myopathy. Annals of Neurology. PMID 27074222 DOI: 10.1002/ana.24654  0.56
2016 Brownstein CA, Kleiman RJ, Engle EC, Towne MC, D'Angelo EJ, Yu TW, Beggs AH, Picker J, Fogler JM, Carroll D, Schmitt RC, Wolff RR, Shen Y, Lip V, Bilguvar K, et al. Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. American Journal of Medical Genetics. Part A. PMID 26887912 DOI: 10.1002/ajmg.a.37595  0.56
2016 Lawlor MW, Beggs AH, Buj-Bello A, Childers MK, Dowling JJ, James ES, Meng H, Moore SA, Prasad S, Schoser B, Sewry CA. Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons. Journal of Neuropathology and Experimental Neurology. PMID 26823526 DOI: 10.1093/jnen/nlv020  0.56
2016 Kazerounian S, Ciarlini PD, Yuan D, Ghazvinian R, Alberich-Jorda M, Joshi M, Zhang H, Beggs AH, Gazda HT. Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice. Journal of Cancer. 7: 32-6. PMID 26722357 DOI: 10.7150/jca.13292  0.56
2015 Brownstein CA, Beggs AH, Rodan L, Shi J, Towne MC, Pelletier R, Cao S, Rosenberg PA, Urion DK, Picker J, Tan WH, Agrawal PB. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics. PMID 26395884 DOI: 10.1007/s10048-015-0460-2  0.56
2015 Yuen M, Cooper ST, Marston SB, Nowak KJ, McNamara E, Mokbel N, Ilkovski B, Ravenscroft G, Rendu J, de Winter JM, Klinge L, Beggs AH, North KN, Ottenheijm CA, Clarke NF. Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. Human Molecular Genetics. PMID 26307083 DOI: 10.1093/hmg/ddv334  0.56
2015 de Winter JM, Joureau B, Sequeira V, Clarke NF, van der Velden J, Stienen GJ, Granzier H, Beggs AH, Ottenheijm CA. Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene. Skeletal Muscle. 5: 12. PMID 25949787 DOI: 10.1186/s13395-015-0037-7  0.56
2015 Zukosky K, Meilleur K, Traynor BJ, Dastgir J, Medne L, Devoto M, Collins J, Rooney J, Zou Y, Yang ML, Gibbs JR, Meier M, Stetefeld J, Finkel RS, Schessl J, ... ... Beggs AH, et al. Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. Jama Neurology. 72: 689-98. PMID 25938801 DOI: 10.1001/jamaneurol.2015.37  0.56
2015 Morton SU, Joshi M, Savic T, Beggs AH, Agrawal PB. Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration. Plos One. 10: e0123829. PMID 25874796 DOI: 10.1371/journal.pone.0123829  0.56
2015 Thaker VV, Esteves KM, Towne MC, Brownstein CA, James PM, Crowley L, Hirschhorn JN, Elsea SH, Beggs AH, Picker J, Agrawal PB. Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. The Journal of Clinical Endocrinology and Metabolism. 100: 1723-30. PMID 25781356 DOI: 10.1210/jc.2014-4215  0.56
2015 Shelton GD, Rider BE, Child G, Tzannes S, Guo LT, Moghadaszadeh B, Troiano EC, Haase B, Wade CM, Beggs AH. X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene. Skeletal Muscle. 5: 1. PMID 25664165 DOI: 10.1186/s13395-014-0025-3  0.56
2015 Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, ... ... Beggs AH, et al. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. The Journal of Clinical Investigation. 125: 456-7. PMID 25654555 DOI: 10.1172/JCI80057  0.32
2014 Goddard MA, Burlingame E, Beggs AH, Buj-Bello A, Childers MK, Marsh AP, Kelly VE. Gait characteristics in a canine model of X-linked myotubular myopathy. Journal of the Neurological Sciences. 346: 221-6. PMID 25281397 DOI: 10.1016/j.jns.2014.08.032  0.56
2014 Agrawal PB, Joshi M, Marinakis NS, Schmitz-Abe K, Ciarlini PD, Sargent JC, Markianos K, De Girolami U, Chad DA, Beggs AH. Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings. Jama Neurology. 71: 1413-20. PMID 25264603 DOI: 10.1001/jamaneurol.2014.1432  0.56
2014 Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, ... ... Beggs AH, et al. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. The Journal of Clinical Investigation. 124: 4693-708. PMID 25250574 DOI: 10.1172/JCI75199  0.56
2014 Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, HaliloÄŸlu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, ... Beggs AH, et al. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. American Journal of Human Genetics. 95: 218-26. PMID 25087613 DOI: 10.1016/j.ajhg.2014.07.004  0.56
2014 Meng H, Janssen PM, Grange RW, Yang L, Beggs AH, Swanson LC, Cossette SA, Frase A, Childers MK, Granzier H, Gussoni E, Lawlor MW. Tissue triage and freezing for models of skeletal muscle disease. Journal of Visualized Experiments : Jove. PMID 25078247 DOI: 10.3791/51586  0.56
2014 Ludwig LS, Gazda HT, Eng JC, Eichhorn SW, Thiru P, Ghazvinian R, George TI, Gotlib JR, Beggs AH, Sieff CA, Lodish HF, Lander ES, Sankaran VG. Altered translation of GATA1 in Diamond-Blackfan anemia. Nature Medicine. 20: 748-53. PMID 24952648 DOI: 10.1038/nm.3557  0.56
2014 Sarwal A, Cartwright MS, Walker FO, Mitchell E, Buj-Bello A, Beggs AH, Childers MK. Ultrasound assessment of the diaphragm: Preliminary study of a canine model of X-linked myotubular myopathy. Muscle & Nerve. 50: 607-9. PMID 24861988 DOI: 10.1002/mus.24294  0.56
2014 Lawlor MW, Viola MG, Meng H, Edelstein RV, Liu F, Yan K, Luna EJ, Lerch-Gaggl A, Hoffmann RG, Pierson CR, Buj-Bello A, Lachey JL, Pearsall S, Yang L, Hillard CJ, ... Beggs AH, et al. Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice. The American Journal of Pathology. 184: 1831-42. PMID 24726641 DOI: 10.1016/j.ajpath.2014.03.003  0.56
2014 Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, et al. Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. Human Mutation. 35: 779-90. PMID 24692096 DOI: 10.1002/humu.22554  0.56
2014 Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, et al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biology. 15: R53. PMID 24667040 DOI: 10.1186/gb-2014-15-3-r53  0.56
2014 Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, et al. Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Human Mutation. 35: 868-79. PMID 24664454 DOI: 10.1002/humu.22553  0.56
2014 Joshi M, Eagan J, Desai NK, Newton SA, Towne MC, Marinakis NS, Esteves KM, De Ferranti S, Bennett MJ, McIntyre A, Beggs AH, Berry GT, Agrawal PB. A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. European Journal of Human Genetics : Ejhg. 22: 1229-32. PMID 24549054 DOI: 10.1038/ejhg.2014.8  0.56
2014 North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG. Approach to the diagnosis of congenital myopathies. Neuromuscular Disorders : Nmd. 24: 97-116. PMID 24456932 DOI: 10.1016/j.nmd.2013.11.003  0.56
2014 Childers MK, Joubert R, Poulard K, Moal C, Grange RW, Doering JA, Lawlor MW, Rider BE, Jamet T, Danièle N, Martin S, Rivière C, Soker T, Hammer C, Van Wittenberghe L, ... ... Beggs AH, et al. Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy. Science Translational Medicine. 6: 220ra10. PMID 24452262 DOI: 10.1126/scitranslmed.3007523  0.56
2013 Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, ... ... Beggs AH, et al. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. American Journal of Human Genetics. 93: 1108-17. PMID 24268659 DOI: 10.1016/j.ajhg.2013.10.020  0.56
2013 Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, Agrawal PB, Beggs AH. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. European Journal of Medical Genetics. 56: 678-82. PMID 24176758 DOI: 10.1016/j.ejmg.2013.09.009  0.56
2013 Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, ... ... Beggs AH, et al. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 81: 1205-14. PMID 23975875 DOI: 10.1212/WNL.0b013e3182a6ca62  0.56
2013 Gupta VA, Hnia K, Smith LL, Gundry SR, McIntire JE, Shimazu J, Bass JR, Talbot EA, Amoasii L, Goldman NE, Laporte J, Beggs AH. Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. Plos Genetics. 9: e1003583. PMID 23818870 DOI: 10.1371/journal.pgen.1003583  0.56
2013 Landowski M, O'Donohue MF, Buros C, Ghazvinian R, Montel-Lehry N, Vlachos A, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Beggs AH, Gleizes PE, et al. Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Human Genetics. 132: 1265-74. PMID 23812780 DOI: 10.1007/s00439-013-1326-z  0.56
2013 Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, ... ... Beggs AH, et al. Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. American Journal of Human Genetics. 93: 6-18. PMID 23746549 DOI: 10.1016/j.ajhg.2013.05.004  0.56
2013 Ottenheijm CA, Buck D, de Winter JM, Ferrara C, Piroddi N, Tesi C, Jasper JR, Malik FI, Meng H, Stienen GJ, Beggs AH, Labeit S, Poggesi C, Lawlor MW, Granzier H. Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy. Brain : a Journal of Neurology. 136: 1718-31. PMID 23715096 DOI: 10.1093/brain/awt113  0.56
2013 de Winter JM, Buck D, Hidalgo C, Jasper JR, Malik FI, Clarke NF, Stienen GJ, Lawlor MW, Beggs AH, Ottenheijm CA, Granzier H. Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. Journal of Medical Genetics. 50: 383-92. PMID 23572184 DOI: 10.1136/jmedgenet-2012-101470  0.56
2013 Moghadaszadeh B, Rider BE, Lawlor MW, Childers MK, Grange RW, Gupta K, Boukedes SS, Owen CA, Beggs AH. Selenoprotein N deficiency in mice is associated with abnormal lung development. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 27: 1585-99. PMID 23325319 DOI: 10.1096/fj.12-212688  0.56
2013 Lawlor MW, Armstrong D, Viola MG, Widrick JJ, Meng H, Grange RW, Childers MK, Hsu CP, O'Callaghan M, Pierson CR, Buj-Bello A, Beggs AH. Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. Human Molecular Genetics. 22: 1525-38. PMID 23307925 DOI: 10.1093/hmg/ddt003  0.56
2012 Grange RW, Doering J, Mitchell E, Holder MN, Guan X, Goddard M, Tegeler C, Beggs AH, Childers MK. Muscle function in a canine model of X-linked myotubular myopathy. Muscle & Nerve. 46: 588-91. PMID 22987702 DOI: 10.1002/mus.23463  0.56
2012 Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, ... ... Beggs AH, et al. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. American Journal of Human Genetics. 91: 541-7. PMID 22958903 DOI: 10.1016/j.ajhg.2012.07.009  0.56
2012 Gupta VA, Kawahara G, Myers JA, Chen AT, Hall TE, Manzini MC, Currie PD, Zhou Y, Zon LI, Kunkel LM, Beggs AH. A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish. Plos One. 7: e43794. PMID 22952766 DOI: 10.1371/journal.pone.0043794  0.56
2012 Lawlor MW, Alexander MS, Viola MG, Meng H, Joubert R, Gupta V, Motohashi N, Manfready RA, Hsu CP, Huang P, Buj-Bello A, Kunkel LM, Beggs AH, Gussoni E. Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment. The American Journal of Pathology. 181: 961-8. PMID 22841819 DOI: 10.1016/j.ajpath.2012.05.016  0.56
2012 Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, Manfready RA, Li X, Joshi S, Xu J, Peng W, Beggs AH, Li JZ, Burmeister M, Dowling JJ. Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. American Journal of Human Genetics. 91: 365-71. PMID 22818856 DOI: 10.1016/j.ajhg.2012.06.012  0.56
2012 Sankaran VG, Ghazvinian R, Do R, Thiru P, Vergilio JA, Beggs AH, Sieff CA, Orkin SH, Nathan DG, Lander ES, Gazda HT. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. The Journal of Clinical Investigation. 122: 2439-43. PMID 22706301 DOI: 10.1172/JCI63597  0.56
2012 Dowling JJ, Joubert R, Low SE, Durban AN, Messaddeq N, Li X, Dulin-Smith AN, Snyder AD, Marshall ML, Marshall JT, Beggs AH, Buj-Bello A, Pierson CR. Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models. Disease Models & Mechanisms. 5: 852-9. PMID 22645112 DOI: 10.1242/dmm.009746  0.56
2012 Gazda HT, Preti M, Sheen MR, O'Donohue MF, Vlachos A, Davies SM, Kattamis A, Doherty L, Landowski M, Buros C, Ghazvinian R, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, ... ... Beggs AH, et al. Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. Human Mutation. 33: 1037-44. PMID 22431104 DOI: 10.1002/humu.22081  0.56
2012 Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, ... ... Beggs AH, et al. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Human Mutation. 33: 949-59. PMID 22396310 DOI: 10.1002/humu.22067  0.56
2012 Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, ... Beggs AH, et al. Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics. 13: 115-24. PMID 22371254 DOI: 10.1007/s10048-012-0315-z  0.56
2012 Gupta V, Discenza M, Guyon JR, Kunkel LM, Beggs AH. α-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by α-actinin-3 revealing functional differences between sarcomeric isoforms. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 26: 1892-908. PMID 22253474 DOI: 10.1096/fj.11-194548  0.56
2012 Pierson CR, Dulin-Smith AN, Durban AN, Marshall ML, Marshall JT, Snyder AD, Naiyer N, Gladman JT, Chandler DS, Lawlor MW, Buj-Bello A, Dowling JJ, Beggs AH. Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. Human Molecular Genetics. 21: 811-25. PMID 22068590 DOI: 10.1093/hmg/ddr512  0.56
2011 Lawlor MW, Ottenheijm CA, Lehtokari VL, Cho K, Pelin K, Wallgren-Pettersson C, Granzier H, Beggs AH. Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy. Skeletal Muscle. 1: 23. PMID 21798101 DOI: 10.1186/2044-5040-1-23  0.56
2011 Ottenheijm CA, Lawlor MW, Stienen GJ, Granzier H, Beggs AH. Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy. Human Molecular Genetics. 20: 2015-25. PMID 21357678 DOI: 10.1093/hmg/ddr084  0.56
2011 Gupta V, Kawahara G, Gundry SR, Chen AT, Lencer WI, Zhou Y, Zon LI, Kunkel LM, Beggs AH. The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies. Human Molecular Genetics. 20: 1712-25. PMID 21296866 DOI: 10.1093/hmg/ddr047  0.56
2011 Lawlor MW, Read BP, Edelstein R, Yang N, Pierson CR, Stein MJ, Wermer-Colan A, Buj-Bello A, Lachey JL, Seehra JS, Beggs AH. Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice. The American Journal of Pathology. 178: 784-93. PMID 21281811 DOI: 10.1016/j.ajpath.2010.10.035  0.56
2010 Boria I, Garelli E, Gazda HT, Aspesi A, Quarello P, Pavesi E, Ferrante D, Meerpohl JJ, Kartal M, Da Costa L, Proust A, Leblanc T, Simansour M, Dahl N, Fröjmark AS, ... ... Beggs AH, et al. The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Human Mutation. 31: 1269-79. PMID 20960466 DOI: 10.1002/humu.21383  0.56
2010 Beggs AH, Böhm J, Snead E, Kozlowski M, Maurer M, Minor K, Childers MK, Taylor SM, Hitte C, Mickelson JR, Guo LT, Mizisin AP, Buj-Bello A, Tiret L, Laporte J, et al. MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. Proceedings of the National Academy of Sciences of the United States of America. 107: 14697-702. PMID 20682747 DOI: 10.1073/pnas.1003677107  0.56
2010 Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH. Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. Human Mutation. 31: 176-83. PMID 19953533 DOI: 10.1002/humu.21157  0.56
2010 Ottenheijm CA, Hooijman P, DeChene ET, Stienen GJ, Beggs AH, Granzier H. Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). Journal of Structural Biology. 170: 334-43. PMID 19944167 DOI: 10.1016/j.jsb.2009.11.013  0.56
2010 Ziane R, Huang H, Moghadaszadeh B, Beggs AH, Levesque G, Chahine M. Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction. Biochemistry. 49: 166-78. PMID 19943616 DOI: 10.1021/bi901086v  0.56
2009 Al-Qusairi L, Weiss N, Toussaint A, Berbey C, Messaddeq N, Kretz C, Sanoudou D, Beggs AH, Allard B, Mandel JL, Laporte J, Jacquemond V, Buj-Bello A. T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proceedings of the National Academy of Sciences of the United States of America. 106: 18763-8. PMID 19846786 DOI: 10.1073/pnas.0900705106  0.56
2009 Bennett RR, Schneider HE, Estrella E, Burgess S, Cheng AS, Barrett C, Lip V, Lai PS, Shen Y, Wu BL, Darras BT, Beggs AH, Kunkel LM. Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. Bmc Genetics. 10: 66. PMID 19835634 DOI: 10.1186/1471-2156-10-66  0.56
2009 Broadbelt KG, Barger MA, Paterson DS, Holm IA, Haas EA, Krous HF, Kinney HC, Markianos K, Beggs AH. Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population. Pediatric Research. 66: 631-5. PMID 19707175 DOI: 10.1203/PDR.0b013e3181bd5a31  0.56
2009 Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, Winder TL, Lochmüller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ. Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Human Mutation. 30: 1267-77. PMID 19562689 DOI: 10.1002/humu.21059  0.56
2009 Ottenheijm CA, Witt CC, Stienen GJ, Labeit S, Beggs AH, Granzier H. Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency. Human Molecular Genetics. 18: 2359-69. PMID 19346529 DOI: 10.1093/hmg/ddp168  0.56
2009 Parker KC, Kong SW, Walsh RJ, Salajegheh M, Moghadaszadeh B, Amato AA, Nazareno R, Lin YY, Krastins B, Sarracino DA, Beggs AH, Pinkus JL, Greenberg SA. Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis. Muscle & Nerve. 39: 739-53. PMID 19291799 DOI: 10.1002/mus.21230  0.56
2007 Eisenberg I, Eran A, Nishino I, Moggio M, Lamperti C, Amato AA, Lidov HG, Kang PB, North KN, Mitrani-Rosenbaum S, Flanigan KM, Neely LA, Whitney D, Beggs AH, Kohane IS, et al. Distinctive patterns of microRNA expression in primary muscular disorders. Proceedings of the National Academy of Sciences of the United States of America. 104: 17016-21. PMID 17942673 DOI: 10.1073/pnas.0708115104  0.56
2005 Haslett JN, Kang PB, Han M, Kho AT, Sanoudou D, Volinski JM, Beggs AH, Kohane IS, Kunkel LM. The influence of muscle type and dystrophin deficiency on murine expression profiles. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 16: 739-48. PMID 16261416 DOI: 10.1007/s00335-005-0053-8  0.56
2005 Kang PB, Kho AT, Sanoudou D, Haslett JN, Dow CP, Han M, Blasko JM, Lidov HG, Beggs AH, Kunkel LM. Variations in gene expression among different types of human skeletal muscle. Muscle & Nerve. 32: 483-91. PMID 15962335 DOI: 10.1002/mus.20356  0.56
2004 Sanoudou D, Frieden LA, Haslett JN, Kho AT, Greenberg SA, Kohane IS, Kunkel LM, Beggs AH. Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression. Neurobiology of Disease. 15: 590-600. PMID 15056467 DOI: 10.1016/j.nbd.2003.12.013  0.56
2004 Tomczak KK, Marinescu VD, Ramoni MF, Sanoudou D, Montanaro F, Han M, Kunkel LM, Kohane IS, Beggs AH. Expression profiling and identification of novel genes involved in myogenic differentiation The Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 18: 403-405. PMID 14688207  0.56
2004 Sanoudou D, Kang PB, Haslett JN, Han M, Kunkel LM, Beggs AH. Transcriptional profile of postmortem skeletal muscle. Physiological Genomics. 16: 222-8. PMID 14625377 DOI: 10.1152/physiolgenomics.00137.2003  0.56
2003 Nimgaonkar A, Sanoudou D, Butte AJ, Haslett JN, Kunkel LM, Beggs AH, Kohane IS. Reproducibility of gene expression across generations of Affymetrix microarrays. Bmc Bioinformatics. 4: 27. PMID 12823866 DOI: 10.1186/1471-2105-4-27  0.56
2003 Haslett JN, Sanoudou D, Kho AT, Han M, Bennett RR, Kohane IS, Beggs AH, Kunkel LM. Gene expression profiling of Duchenne muscular dystrophy skeletal muscle. Neurogenetics. 4: 163-71. PMID 12698323 DOI: 10.1007/s10048-003-0148-x  0.56
2003 Sanoudou D, Haslett JN, Kho AT, Guo S, Gazda HT, Greenberg SA, Lidov HG, Kohane IS, Kunkel LM, Beggs AH. Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle. Proceedings of the National Academy of Sciences of the United States of America. 100: 4666-71. PMID 12677001 DOI: 10.1073/pnas.0330960100  0.56
2002 Haslett JN, Sanoudou D, Kho AT, Bennett RR, Greenberg SA, Kohane IS, Beggs AH, Kunkel LM. Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle. Proceedings of the National Academy of Sciences of the United States of America. 99: 15000-5. PMID 12415109 DOI: 10.1073/pnas.192571199  0.56
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