Louis Kunkel, PhD - Publications

Genetics Childrens Hospital, St. Louis, MO, United States 
Human genetics, muscular dystrophy

169 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
2021 Alexander MS, Hightower RM, Reid AL, Bennett AH, Iyer L, Slonim DK, Saha M, Kawahara G, Kunkel LM, Kopin AS, Gupta VA, Kang PB, Draper I. hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies. Muscle & Nerve. PMID 33651408 DOI: 10.1002/mus.27216  0.6
2021 Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, ... ... Kunkel LM, et al. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nature Communications. 12: 1135. PMID 33602924 DOI: 10.1038/s41467-021-21279-0  0.6
2019 Palmer NP, Silvester JA, Lee JJ, Beam AL, Fried I, Valtchinov VI, Rahimov F, Kong SW, Ghodoussipour S, Hood HC, Bousvaros A, Grand RJ, Kunkel LM, Kohane IS. Concordance between gene expression in peripheral whole blood and colonic tissue in children with inflammatory bowel disease. Plos One. 14: e0222952. PMID 31618209 DOI: 10.1371/Journal.Pone.0222952  0.44
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  0.6
2019 Bruels CC, Li C, Mendoza T, Khan J, Reddy HM, Estrella EA, Ghosh PS, Darras BT, Lidov HGW, Pacak CA, Kunkel LM, Modave F, Draper I, Kang PB. Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. Molecular Genetics & Genomic Medicine. e552. PMID 30688039 DOI: 10.1002/Mgg3.552  0.6
2018 Saha M, Reddy HM, Salih MA, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, ... ... Kunkel LM, et al. Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. Physiological Genomics. 50: 929-939. PMID 30345904 DOI: 10.1152/Physiolgenomics.00036.2018  0.6
2018 Saha M, Reddy HM, Salih M, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, ... ... Kunkel LM, et al. The impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. Physiological Genomics. PMID 30169133 DOI: 10.1152/physiolgenomics.00036.2018  0.6
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  0.6
2016 Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, et al. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. Journal of Human Genetics. PMID 27708273 DOI: 10.1038/Jhg.2016.116  0.6
2016 Reddy HM, Hamed SA, Lek M, Mitsuhashi S, Estrella E, Jones MD, Mahoney LJ, Duncan AR, Cho K, MacArthur DG, Kunkel LM, Kang PB. A homozygous nonsense mutation in SGCA is a common cause of LGMD in Assiut, Egypt. Muscle & Nerve. PMID 26934379 DOI: 10.1002/Mus.25094  0.6
2015 Vieira NM, Elvers I, Alexander MS, Moreira YB, Eran A, Gomes JP, Marshall JL, Karlsson EK, Verjovski-Almeida S, Lindblad-Toh K, Kunkel LM, Zatz M. Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell. 163: 1204-13. PMID 26582133 DOI: 10.1016/J.Cell.2015.10.049  0.6
2015 Guiraud S, Aartsma-Rus A, Vieira NM, Davies KE, van Ommen GJ, Kunkel LM. The Pathogenesis and Therapy of Muscular Dystrophies. Annual Review of Genomics and Human Genetics. PMID 26048046 DOI: 10.1146/annurev-genom-090314-025003  0.6
2015 Vieira NM, Guo LT, Estrela E, Kunkel LM, Zatz M, Shelton GD. Muscular dystrophy in a family of Labrador Retrievers with no muscle dystrophin and a mild phenotype. Neuromuscular Disorders : Nmd. 25: 363-70. PMID 25813339 DOI: 10.1016/J.Nmd.2015.02.012  0.6
2015 Lek A, Rahimov F, Jones PL, Kunkel LM. Emerging preclinical animal models for FSHD. Trends in Molecular Medicine. 21: 295-306. PMID 25801126 DOI: 10.1016/j.molmed.2015.02.011  0.6
2014 Wang Y, Marino-Enriquez A, Bennett RR, Zhu M, Shen Y, Eilers G, Lee JC, Henze J, Fletcher BS, Gu Z, Fox EA, Antonescu CR, Fletcher CD, Guo X, Raut CP, ... ... Kunkel LM, et al. Dystrophin is a tumor suppressor in human cancers with myogenic programs. Nature Genetics. 46: 601-6. PMID 24793134 DOI: 10.1038/Ng.2974  0.6
2014 Alexander MS, Casar JC, Motohashi N, Vieira NM, Eisenberg I, Marshall JL, Gasperini MJ, Lek A, Myers JA, Estrella EA, Kang PB, Shapiro F, Rahimov F, Kawahara G, Widrick JJ, ... Kunkel LM, et al. MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms. The Journal of Clinical Investigation. 124: 2651-67. PMID 24789910 DOI: 10.1172/Jci73579  0.6
2014 Balasubramanian A, Kawahara G, Gupta VA, Rozkalne A, Beauvais A, Kunkel LM, Gussoni E. Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 28: 2955-69. PMID 24687993 DOI: 10.1096/fj.13-246470  0.6
2014 Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavaçana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, ... ... Kunkel LM, et al. A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). Human Molecular Genetics. 23: 4103-10. PMID 24647604 DOI: 10.1093/Hmg/Ddu127  0.6
2014 Kong SW, Sahin M, Collins CD, Wertz MH, Campbell MG, Leech JD, Krueger D, Bear MF, Kunkel LM, Kohane IS. Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis. Molecular Autism. 5: 16. PMID 24564913 DOI: 10.1186/2040-2392-5-16  0.6
2014 Zhang Y, King OD, Rahimov F, Jones TI, Ward CW, Kerr JP, Liu N, Emerson CP, Kunkel LM, Partridge TA, Wagner KR. Human skeletal muscle xenograft as a new preclinical model for muscle disorders. Human Molecular Genetics. 23: 3180-8. PMID 24452336 DOI: 10.1093/Hmg/Ddu028  0.6
2014 Kawahara G, Gasperini MJ, Myers JA, Widrick JJ, Eran A, Serafini PR, Alexander MS, Pletcher MT, Morris CA, Kunkel LM. Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling. Human Molecular Genetics. 23: 1869-78. PMID 24234649 DOI: 10.1093/Hmg/Ddt579  0.6
2014 Darras BT, Menache-Starobinski CC, Hinton V, Kunkel LM. Dystrophinopathies Neuromuscular Disorders of Infancy, Childhood, and Adolescence: a Clinician's Approach. 551-592. DOI: 10.1016/B978-0-12-417044-5.00030-5  0.6
2013 Mitsuhashi S, Boyden SE, Estrella EA, Jones TI, Rahimov F, Yu TW, Darras BT, Amato AA, Folkerth RD, Jones PL, Kunkel LM, Kang PB. Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. Neuromuscular Disorders : Nmd. 23: 975-80. PMID 24128691 DOI: 10.1016/J.Nmd.2013.08.009  0.6
2013 Kawahara G, Kunkel LM. Zebrafish based small molecule screens for novel DMD drugs. Drug Discovery Today. Technologies. 10: e91-6. PMID 24050235 DOI: 10.1016/j.ddtec.2012.03.001  0.6
2013 Alexander MS, Kawahara G, Motohashi N, Casar JC, Eisenberg I, Myers JA, Gasperini MJ, Estrella EA, Kho AT, Mitsuhashi S, Shapiro F, Kang PB, Kunkel LM. MicroRNA-199a is induced in dystrophic muscle and affects WNT signaling, cell proliferation, and myogenic differentiation. Cell Death and Differentiation. 20: 1194-208. PMID 23764775 DOI: 10.1038/cdd.2013.62  0.6
2013 Vardarajan BN, Eran A, Jung JY, Kunkel LM, Wall DP. Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder. Translational Psychiatry. 3: e262. PMID 23715297 DOI: 10.1038/tp.2013.38  0.6
2013 Rahimov F, Kunkel LM. The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy. The Journal of Cell Biology. 201: 499-510. PMID 23671309 DOI: 10.1083/jcb.201212142  0.6
2013 Kong SW, Shimizu-Motohashi Y, Campbell MG, Lee IH, Collins CD, Brewster SJ, Holm IA, Rappaport L, Kohane IS, Kunkel LM. Peripheral blood gene expression signature differentiates children with autism from unaffected siblings. Neurogenetics. 14: 143-52. PMID 23625158 DOI: 10.1007/s10048-013-0363-z  0.6
2013 Motohashi N, Alexander MS, Shimizu-Motohashi Y, Myers JA, Kawahara G, Kunkel LM. Regulation of IRS1/Akt insulin signaling by microRNA-128a during myogenesis. Journal of Cell Science. 126: 2678-91. PMID 23606743 DOI: 10.1242/jcs.119966  0.6
2013 Mitsuhashi H, Mitsuhashi S, Lynn-Jones T, Kawahara G, Kunkel LM. Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy. Human Molecular Genetics. 22: 568-77. PMID 23108159 DOI: 10.1093/hmg/dds467  0.6
2013 Eran A, Li JB, Vatalaro K, McCarthy J, Rahimov F, Collins C, Markianos K, Margulies DM, Brown EN, Calvo SE, Kohane IS, Kunkel LM. Comparative RNA editing in autistic and neurotypical cerebella. Molecular Psychiatry. 18: 1041-8. PMID 22869036 DOI: 10.1038/Mp.2012.118  0.6
2012 Kong SW, Collins CD, Shimizu-Motohashi Y, Holm IA, Campbell MG, Lee IH, Brewster SJ, Hanson E, Harris HK, Lowe KR, Saada A, Mora A, Madison K, Hundley R, Egan J, ... ... Kunkel LM, et al. Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders. Plos One. 7: e49475. PMID 23227143 DOI: 10.1371/Journal.Pone.0049475  0.6
2012 Rahimov F, King OD, Leung DG, Bibat GM, Emerson CP, Kunkel LM, Wagner KR. Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers. Proceedings of the National Academy of Sciences of the United States of America. 109: 16234-9. PMID 22988124 DOI: 10.1073/pnas.1209508109  0.6
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  0.6
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  0.6
2012 Jones TI, Chen JC, Rahimov F, Homma S, Arashiro P, Beermann ML, King OD, Miller JB, Kunkel LM, Emerson CP, Wagner KR, Jones PL. Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis. Human Molecular Genetics. 21: 4419-30. PMID 22798623 DOI: 10.1093/hmg/dds284  0.6
2012 Motohashi N, Alexander MS, Casar JC, Kunkel LM. Identification of a novel microRNA that regulates the proliferation and differentiation in muscle side population cells. Stem Cells and Development. 21: 3031-43. PMID 22541023 DOI: 10.1089/scd.2011.0721  0.6
2012 Kohane IS, McMurry A, Weber G, MacFadden D, Rappaport L, Kunkel L, Bickel J, Wattanasin N, Spence S, Murphy S, Churchill S. The co-morbidity burden of children and young adults with autism spectrum disorders. Plos One. 7: e33224. PMID 22511918 DOI: 10.1371/Journal.Pone.0033224  0.6
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, ... ... Kunkel LM, 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  0.6
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  0.6
2012 Liadaki K, Casar JC, Wessen M, Luth ES, Jun S, Gussoni E, Kunkel LM. β4 integrin marks interstitial myogenic progenitor cells in adult murine skeletal muscle. The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society. 60: 31-44. PMID 22205679 DOI: 10.1369/0022155411428991  0.6
2012 Homma S, Chen JC, Rahimov F, Beermann ML, Hanger K, Bibat GM, Wagner KR, Kunkel LM, Emerson CP, Miller JB. A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function. European Journal of Human Genetics : Ejhg. 20: 404-10. PMID 22108603 DOI: 10.1038/ejhg.2011.213  0.6
2012 Marchini GS, Onal B, Guo CY, Rowe CK, Kunkel L, Bauer SB, Retik AB, Nguyen HT. Genome gender diversity in affected sib-pairs with familial vesico-ureteric reflux identified by single nucleotide polymorphism linkage analysis. Bju International. 109: 1709-14. PMID 21981614 DOI: 10.1111/J.1464-410X.2011.10634.X  0.6
2011 Kawahara G, Serafini PR, Myers JA, Alexander MS, Kunkel LM. Characterization of zebrafish dysferlin by morpholino knockdown. Biochemical and Biophysical Research Communications. 413: 358-63. PMID 21893049 DOI: 10.1016/j.bbrc.2011.08.105  0.6
2011 Alexander MS, Casar JC, Motohashi N, Myers JA, Eisenberg I, Gonzalez RT, Estrella EA, Kang PB, Kawahara G, Kunkel LM. Regulation of DMD pathology by an ankyrin-encoded miRNA. Skeletal Muscle. 1: 27. PMID 21824387 DOI: 10.1186/2044-5040-1-27  0.6
2011 Boyden SE, Duncan AR, Estrella EA, Lidov HG, Mahoney LJ, Katz JS, Kunkel LM, Kang PB. Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE. Bmc Medical Genetics. 12: 87. PMID 21708040 DOI: 10.1186/1471-2350-12-87  0.6
2011 Kawahara G, Karpf JA, Myers JA, Alexander MS, Guyon JR, Kunkel LM. Drug screening in a zebrafish model of Duchenne muscular dystrophy. Proceedings of the National Academy of Sciences of the United States of America. 108: 5331-6. PMID 21402949 DOI: 10.1073/pnas.1102116108  0.6
2011 Alexander MS, Kawahara G, Kho AT, Howell MH, Pusack TJ, Myers JA, Montanaro F, Zon LI, Guyon JR, Kunkel LM. Isolation and transcriptome analysis of adult zebrafish cells enriched for skeletal muscle progenitors. Muscle & Nerve. 43: 741-50. PMID 21337346 DOI: 10.1002/Mus.21972  0.6
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  0.6
2011 Rahimov F, King OD, Warsing LC, Powell RE, Emerson CP, Kunkel LM, Wagner KR. Gene expression profiling of skeletal muscles treated with a soluble activin type IIB receptor. Physiological Genomics. 43: 398-407. PMID 21266502 DOI: 10.1152/physiolgenomics.00223.2010  0.6
2010 Boyden SE, Kunkel LM. High-density genomewide linkage analysis of exceptional human longevity identifies multiple novel loci. Plos One. 5: e12432. PMID 20824210 DOI: 10.1371/journal.pone.0012432  0.6
2010 Boyden SE, Salih MA, Duncan AR, White AJ, Estrella EA, Burgess SL, Seidahmed MZ, Al-Jarallah AS, Alkhalidi HM, Al-Maneea WM, Bennett RR, Alshemmari SH, Kunkel LM, Kang PB. Efficient identification of novel mutations in patients with limb girdle muscular dystrophy. Neurogenetics. 11: 449-55. PMID 20623375 DOI: 10.1007/s10048-010-0250-9  0.6
2010 Kang PB, Lidov HG, White AJ, Mitchell M, Balasubramanian A, Estrella E, Bennett RR, Darras BT, Shapiro FD, Bambach BJ, Kurtzberg J, Gussoni E, Kunkel LM. Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy. Muscle & Nerve. 41: 746-50. PMID 20513101 DOI: 10.1002/mus.21702  0.6
2010 Kawahara G, Guyon JR, Nakamura Y, Kunkel LM. Zebrafish models for human FKRP muscular dystrophies. Human Molecular Genetics. 19: 623-33. PMID 19955119 DOI: 10.1093/Hmg/Ddp528  0.6
2010 Briggs CE, Guo CY, Schoettler C, Rosoklija I, Silva A, Bauer SB, Retik AB, Kunkel L, Nguyen HT. A genome scan in affected sib-pairs with familial vesicoureteral reflux identifies a locus on chromosome 5. European Journal of Human Genetics : Ejhg. 18: 245-50. PMID 19690587 DOI: 10.1038/Ejhg.2009.142  0.6
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  0.6
2009 Perez AL, Bachrach E, Illigens BM, Jun SJ, Bagden E, Steffen L, Flint A, McGowan FX, Del Nido P, Montecino-Rodriguez E, Tidball JG, Kunkel LM. CXCR4 enhances engraftment of muscle progenitor cells. Muscle & Nerve. 40: 562-72. PMID 19760789 DOI: 10.1002/Mus.21317  0.6
2009 Mallory LA, Shaw JG, Burgess SL, Estrella E, Nurko S, Burpee TM, Agus MS, Darras BT, Kunkel LM, Kang PB. Congenital myasthenic syndrome with episodic apnea. Pediatric Neurology. 41: 42-5. PMID 19520274 DOI: 10.1016/j.pediatrneurol.2009.02.017  0.6
2009 Sohn RL, Huang P, Kawahara G, Mitchell M, Guyon J, Kalluri R, Kunkel LM, Gussoni E. A role for nephrin, a renal protein, in vertebrate skeletal muscle cell fusion. Proceedings of the National Academy of Sciences of the United States of America. 106: 9274-9. PMID 19470472 DOI: 10.1073/Pnas.0904398106  0.6
2009 Eran A, Graham KR, Vatalaro K, McCarthy J, Collins C, Peters H, Brewster SJ, Hanson E, Hundley R, Rappaport L, Holm IA, Kohane IS, Kunkel LM. Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients". The Journal of Clinical Investigation. 119: 679-80; author reply. PMID 19339759 DOI: 10.1172/JCI38620  0.6
2009 Arashiro P, Eisenberg I, Kho AT, Cerqueira AM, Canovas M, Silva HC, Pavanello RC, Verjovski-Almeida S, Kunkel LM, Zatz M. Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers. Proceedings of the National Academy of Sciences of the United States of America. 106: 6220-5. PMID 19339494 DOI: 10.1073/pnas.0901573106  0.6
2009 Mizuno Y, Guyon JR, Okamoto K, Kunkel LM. Expression of synemin in the mouse spinal cord. Muscle & Nerve. 39: 634-41. PMID 19229966 DOI: 10.1002/Mus.21221  0.6
2009 Eisenberg I, Alexander MS, Kunkel LM. miRNAS in normal and diseased skeletal muscle. Journal of Cellular and Molecular Medicine. 13: 2-11. PMID 19175696 DOI: 10.1111/j.1582-4934.2008.00524.x  0.6
2009 Guyon JR, Goswami J, Jun SJ, Thorne M, Howell M, Pusack T, Kawahara G, Steffen LS, Galdzicki M, Kunkel LM. Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin. Human Molecular Genetics. 18: 202-11. PMID 18957474 DOI: 10.1093/Hmg/Ddn337  0.6
2008 Luth ES, Jun SJ, Wessen MK, Liadaki K, Gussoni E, Kunkel LM. Bone marrow side population cells are enriched for progenitors capable of myogenic differentiation. Journal of Cell Science. 121: 1426-34. PMID 18397996 DOI: 10.1242/jcs.021675  0.6
2008 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, ... Kunkel LM, et al. Distinctive patterns of microRNA expression in primary muscular disorders (Proceedings of the National Academy of Sciences of the United States of America (2007) 104, 43, (17016-17021) DOI: 10.1073/pnas.0708115104) Proceedings of the National Academy of Sciences of the United States of America. 105: 399. DOI: 10.1073/Pnas.0711290105  0.6
2007 Kang PB, Feener CA, Estrella E, Thorne M, White AJ, Darras BT, Amato AA, Kunkel LM. LGMD2I in a North American population. Bmc Musculoskeletal Disorders. 8: 115. PMID 18036232 DOI: 10.1186/1471-2474-8-115  0.6
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, ... Kunkel LM, 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  0.6
2007 Steffen LS, Guyon JR, Vogel ED, Howell MH, Zhou Y, Weber GJ, Zon LI, Kunkel LM. The zebrafish runzel muscular dystrophy is linked to the titin gene. Developmental Biology. 309: 180-92. PMID 17678642 DOI: 10.1016/J.Ydbio.2007.06.015  0.6
2007 Mizuno Y, Guyon JR, Okamoto K, Kunkel LM. Synemin expression in brain. Muscle & Nerve. 36: 497-504. PMID 17654553 DOI: 10.1002/Mus.20847  0.6
2007 Liadaki K, Luth ES, Kunkel LM. Co-detection of GFP and dystrophin in skeletal muscle tissue sections Biotechniques. 42: 699-700. PMID 17612290 DOI: 10.2144/000112494  0.6
2007 Langenau DM, Keefe MD, Storer NY, Guyon JR, Kutok JL, Le X, Goessling W, Neuberg DS, Kunkel LM, Zon LI. Effects of RAS on the genesis of embryonal rhabdomyosarcoma. Genes & Development. 21: 1382-95. PMID 17510286 DOI: 10.1101/Gad.1545007  0.6
2007 Kohane IS, Mandl KD, Taylor PL, Holm IA, Nigrin DJ, Kunkel LM. Medicine. Reestablishing the researcher-patient compact. Science (New York, N.Y.). 316: 836-7. PMID 17495156 DOI: 10.1126/science.1135489  0.6
2007 Mizuno Y, Guyon JR, Ishii A, Hoshino S, Ohkoshi N, Tamaoka A, Okamoto K, Kunkel LM. Beta-synemin expression in cardiotoxin-injected rat skeletal muscle. Bmc Musculoskeletal Disorders. 8: 40. PMID 17493272 DOI: 10.1186/1471-2474-8-40  0.6
2007 Péault B, Rudnicki M, Torrente Y, Cossu G, Tremblay JP, Partridge T, Gussoni E, Kunkel LM, Huard J. Stem and progenitor cells in skeletal muscle development, maintenance, and therapy. Molecular Therapy : the Journal of the American Society of Gene Therapy. 15: 867-77. PMID 17387336 DOI: 10.1038/Mt.Sj.6300145  0.6
2007 Steffen LS, Guyon JR, Vogel ED, Beltre R, Pusack TJ, Zhou Y, Zon LI, Kunkel LM. Zebrafish orthologs of human muscular dystrophy genes. Bmc Genomics. 8: 79. PMID 17374169 DOI: 10.1186/1471-2164-8-79  0.6
2007 Guyon JR, Steffen LS, Howell MH, Pusack TJ, Lawrence C, Kunkel LM. Modeling human muscle disease in zebrafish. Biochimica Et Biophysica Acta. 1772: 205-15. PMID 16934958 DOI: 10.1016/J.Bbadis.2006.07.003  0.6
2006 Dalkilic I, Schienda J, Thompson TG, Kunkel LM. Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure. Molecular and Cellular Biology. 26: 6522-34. PMID 16914736 DOI: 10.1128/MCB.00243-06  0.6
2006 Duncan DR, Kang PB, Rabbat JC, Briggs CE, Lidov HG, Darras BT, Kunkel LM. A novel mutation in two families with limb-girdle muscular dystrophy type 2C. Neurology. 67: 167-9. PMID 16832103 DOI: 10.1212/01.Wnl.0000223600.78363.Dd  0.6
2006 Bachrach E, Perez AL, Choi YH, Illigens BM, Jun SJ, del Nido P, McGowan FX, Li S, Flint A, Chamberlain J, Kunkel LM. Muscle engraftment of myogenic progenitor cells following intraarterial transplantation. Muscle & Nerve. 34: 44-52. PMID 16634061 DOI: 10.1002/Mus.20560  0.6
2006 Kunkel LM, Bachrach E, Bennett RR, Guyon J, Steffen L. Diagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice, and zebrafish. Journal of Human Genetics. 51: 397-406. PMID 16583129 DOI: 10.1007/S10038-006-0374-9  0.44
2006 Kho AT, Kang PB, Kohane IS, Kunkel LM. Transcriptome-scale similarities between mouse and human skeletal muscles with normal and myopathic phenotypes. Bmc Musculoskeletal Disorders. 7: 23. PMID 16522209 DOI: 10.1186/1471-2474-7-23  0.6
2006 Schienda J, Engleka KA, Jun S, Hansen MS, Epstein JA, Tabin CJ, Kunkel LM, Kardon G. Somitic origin of limb muscle satellite and side population cells. Proceedings of the National Academy of Sciences of the United States of America. 103: 945-50. PMID 16418263 DOI: 10.1073/Pnas.0510164103  0.6
2006 Kang PB, Kunkel LM. Muscular dystrophies: Mechanisms Principles of Molecular Medicine. 693-699. DOI: 10.1007/978-1-59259-963-9_70  0.6
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  0.6
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  0.6
2005 Guyon JR, Mosley AN, Jun SJ, Montanaro F, Steffen LS, Zhou Y, Nigro V, Zon LI, Kunkel LM. Delta-sarcoglycan is required for early zebrafish muscle organization. Experimental Cell Research. 304: 105-15. PMID 15707578 DOI: 10.1016/J.Yexcr.2004.10.032  0.6
2005 Liadaki K, Kho AT, Sanoudou D, Schienda J, Flint A, Beggs AH, Kohane IS, Kunkel LM. Side population cells isolated from different tissues share transcriptome signatures and express tissue-specific markers. Experimental Cell Research. 303: 360-74. PMID 15652349 DOI: 10.1016/J.Yexcr.2004.10.011  0.6
2004 Mizuno Y, Guyon JR, Watkins SC, Mizushima K, Sasaoka T, Imamura M, Kunkel LM, Okamoto K. Beta-synemin localizes to regions of high stress in human skeletal myofibers. Muscle & Nerve. 30: 337-46. PMID 15318345 DOI: 10.1002/Mus.20111  0.6
2004 Montanaro F, Liadaki K, Schienda J, Flint A, Gussoni E, Kunkel LM. Demystifying SP cell purification: viability, yield, and phenotype are defined by isolation parameters. Experimental Cell Research. 298: 144-54. PMID 15242769 DOI: 10.1016/J.Yexcr.2004.04.010  0.6
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  0.6
2004 Bachrach E, Li S, Perez AL, Schienda J, Liadaki K, Volinski J, Flint A, Chamberlain J, Kunkel LM. Systemic delivery of human microdystrophin to regenerating mouse dystrophic muscle by muscle progenitor cells. Proceedings of the National Academy of Sciences of the United States of America. 101: 3581-6. PMID 14993597 DOI: 10.1073/Pnas.0400373101  0.6
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 DOI: 10.1096/Fj.03-0568Fje  0.6
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  0.8
2003 Geesaman BJ, Benson E, Brewster SJ, Kunkel LM, Blanché H, Thomas G, Perls TT, Daly MJ, Puca AA. Haplotype-based identification of a microsomal transfer protein marker associated with the human lifespan. Proceedings of the National Academy of Sciences of the United States of America. 100: 14115-20. PMID 14615589 DOI: 10.1073/Pnas.1936249100  0.6
2003 Guyon JR, Kudryashova E, Potts A, Dalkilic I, Brosius MA, Thompson TG, Beckmann JS, Kunkel LM, Spencer MJ. Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans. Muscle & Nerve. 28: 472-83. PMID 14506720 DOI: 10.1002/Mus.10465  0.6
2003 Sebastiani P, Lazarus R, Weiss ST, Kunkel LM, Kohane IS, Ramoni MF. Minimal haplotype tagging. Proceedings of the National Academy of Sciences of the United States of America. 100: 9900-5. PMID 12900503 DOI: 10.1073/Pnas.1633613100  0.6
2003 Montanaro F, Liadaki K, Volinski J, Flint A, Kunkel LM. Skeletal muscle engraftment potential of adult mouse skin side population cells Proceedings of the National Academy of Sciences of the United States of America. 100: 9336-9341. PMID 12886022 DOI: 10.1073/Pnas.1133179100  0.6
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  0.8
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  0.6
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  0.6
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  0.6
2002 Greenberg SA, Sanoudou D, Haslett JN, Kohane IS, Kunkel LM, Beggs AH, Amato AA. Molecular profiles of inflammatory myopathies. Neurology. 59: 1170-82. PMID 12391344 DOI: 10.1212/Wnl.59.8.1170  0.8
2002 Gussoni E, Bennett RR, Muskiewicz KR, Meyerrose T, Nolta JA, Gilgoff I, Stein J, Chan YM, Lidov HG, Bönnemann CG, Von Moers A, Morris GE, Den Dunnen JT, Chamberlain JS, Kunkel LM, et al. Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation. The Journal of Clinical Investigation. 110: 807-14. PMID 12235112 DOI: 10.1172/Jci16098  0.6
2002 Haslett JN, Kunkel LM. Microarray analysis of normal and dystrophic skeletal muscle. International Journal of Developmental Neuroscience : the Official Journal of the International Society For Developmental Neuroscience. 20: 359-65. PMID 12175874  0.8
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  0.36
2002 Perls TT, Wilmoth J, Levenson R, Drinkwater M, Cohen M, Bogan H, Joyce E, Brewster S, Kunkel L, Puca A. Life-long sustained mortality advantage of siblings of centenarians. Proceedings of the National Academy of Sciences of the United States of America. 99: 8442-7. PMID 12060785 DOI: 10.1073/Pnas.122587599  0.6
2001 de Paula F, Vainzof M, Bernardino AL, McNally E, Kunkel LM, Zatz M. Mutations in the caveolin-3 gene: When are they pathogenic? American Journal of Medical Genetics. 99: 303-7. PMID 11251997 DOI: 10.1002/1096-8628(2001)9999:9999<::Aid-Ajmg1168>3.0.Co;2-O  0.6
2001 O'Brien KF, Engle EC, Kunkel LM. Analysis of human sarcospan as a candidate gene for CFEOM1. Bmc Genetics. 2: 3. PMID 11180757 DOI: 10.1186/1471-2156-2-3  0.6
2001 Takada F, Vander Woude DL, Tong HQ, Thompson TG, Watkins SC, Kunkel LM, Beggs AH. Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. Proceedings of the National Academy of Sciences of the United States of America. 98: 1595-600. PMID 11171996 DOI: 10.1073/pnas.041609698  0.6
2000 Growney JD, Scharf JM, Kunkel LM, Dietrich WF. Evolutionary divergence of the mouse and human Lgn1/SMA repeat structures. Genomics. 64: 62-81. PMID 10708519 DOI: 10.1006/Geno.1999.6111  0.6
2000 Bönnemann CG, Cox GF, Shapiro F, Wu JJ, Feener CA, Thompson TG, Anthony DC, Eyre DR, Darras BT, Kunkel LM. A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. Proceedings of the National Academy of Sciences of the United States of America. 97: 1212-7. PMID 10655510 DOI: 10.1073/Pnas.97.3.1212  0.6
2000 Thompson TG, Chan YM, Hack AA, Brosius M, Rajala M, Lidov HG, McNally EM, Watkins S, Kunkel LM. Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein. The Journal of Cell Biology. 148: 115-26. PMID 10629222 DOI: 10.1083/Jcb.148.1.115  0.6
1999 Gussoni E, Soneoka Y, Strickland CD, Buzney EA, Khan MK, Flint AF, Kunkel LM, Mulligan RC. Dystrophin expression in the mdx mouse restored by stem cell transplantation. Nature. 401: 390-4. PMID 10517639 DOI: 10.1038/43919  0.6
1999 Endrizzi M, Huang S, Scharf JM, Kelter AR, Wirth B, Kunkel LM, Miller W, Dietrich WF. Comparative sequence analysis of the mouse and human Lgn1/SMA interval. Genomics. 60: 137-51. PMID 10486205 DOI: 10.1006/Geno.1999.5910  0.6
1999 von Deimling F, Scharf JM, Liehr T, Rothe M, Kelter AR, Albers P, Dietrich WF, Kunkel LM, Wernert N, Wirth B. Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma. Human Genetics. 105: 17-27. PMID 10480350 DOI: 10.1007/S004399900067  0.6
1998 Peters MF, Sadoulet-Puccio HM, Grady MR, Kramarcy NR, Kunkel LM, Sanes JR, Sealock R, Froehner SC. Differential membrane localization and intermolecular associations of alpha-dystrobrevin isoforms in skeletal muscle. The Journal of Cell Biology. 142: 1269-78. PMID 9732287 DOI: 10.1083/jcb.142.5.1269  0.6
1998 Scharf JM, Endrizzi MG, Wetter A, Huang S, Thompson TG, Zerres K, Dietrich WF, Wirth B, Kunkel LM. Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. Nature Genetics. 20: 83-6. PMID 9731538 DOI: 10.1038/1753  0.6
1998 Bönnemann CG, Wong J, Ben Hamida C, Hamida MB, Hentati F, Kunkel LM. LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3. Neuromuscular Disorders : Nmd. 8: 193-7. PMID 9631401 DOI: 10.1016/S0960-8966(98)00014-5  0.6
1998 McNally EM, Ly CT, Kunkel LM. Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene. Febs Letters. 422: 27-32. PMID 9475163 DOI: 10.1016/S0014-5793(97)01593-7  0.6
1997 Peters MF, O'Brien KF, Sadoulet-Puccio HM, Kunkel LM, Adams ME, Froehner SC. beta-dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations. The Journal of Biological Chemistry. 272: 31561-9. PMID 9395493 DOI: 10.1074/jbc.272.50.31561  0.6
1997 Gussoni E, Blau HM, Kunkel LM. The fate of individual myoblasts after transplantation into muscles of DMD patients Nature Medicine. 3: 970-974. PMID 9288722 DOI: 10.1038/Nm0997-970  0.6
1997 Selig S, Lidov HG, Bruno SA, Segal MM, Kunkel LM. Molecular characterization of Br-cadherin, a developmentally regulated, brain-specific cadherin. Proceedings of the National Academy of Sciences of the United States of America. 94: 2398-403. PMID 9122206 DOI: 10.1073/Pnas.94.6.2398  0.6
1997 Carter TA, Bönnemann CG, Wang CH, Obici S, Parano E, De Fatima Bonaldo M, Ross BM, Penchaszadeh GK, Mackenzie A, Soares MB, Kunkel LM, Gilliam TC. A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions. Human Molecular Genetics. 6: 229-36. PMID 9063743 DOI: 10.1093/Hmg/6.2.229  0.6
1996 Scharf JM, Damron D, Frisella A, Bruno S, Beggs AH, Kunkel LM, Dietrich WF. The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5. Genomics. 38: 405-17. PMID 8975718 DOI: 10.1006/Geno.1996.0644  0.6
1996 Sadoulet-Puccio HM, Khurana TS, Cohen JB, Kunkel LM. Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane. Human Molecular Genetics. 5: 489-96. PMID 8845841 DOI: 10.1093/Hmg/5.4.489  0.6
1995 Ahn AH, Kunkel LM. Syntrophin binds to an alternatively spliced exon of dystrophin. The Journal of Cell Biology. 128: 363-71. PMID 7844150 DOI: 10.1083/jcb.128.3.363  0.6
1995 Selig S, Bruno S, Scharf JM, Wang CH, Vitale E, Gilliam TC, Kunkel LM. Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. Proceedings of the National Academy of Sciences of the United States of America. 92: 3702-6. PMID 7731968 DOI: 10.1073/Pnas.92.9.3702  0.6
1995 Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bönnemann CG, Gussoni E, Denton PH, Kyriakides T, Middleton L, Hentati F, Ben Hamida M, Nonaka I, ... ... Kunkel LM, et al. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science (New York, N.Y.). 270: 819-22. PMID 7481775 DOI: 10.1126/Science.270.5237.819  0.6
1994 Ahn AH, Yoshida M, Anderson MS, Feener CA, Selig S, Hagiwara Y, Ozawa E, Kunkel LM. Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24. Proceedings of the National Academy of Sciences of the United States of America. 91: 4446-50. PMID 8183929 DOI: 10.1073/PNAS.91.10.4446  0.6
1994 Khurana TS, Engle EC, Bennett RR, Silverman GA, Selig S, Bruns GA, Kunkel LM. (CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein. Human Molecular Genetics. 3: 841. PMID 8081380 DOI: 10.1093/Hmg/3.5.841-A  0.6
1994 Engle EC, Kunkel LM, Specht LA, Beggs AH. Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nature Genetics. 7: 69-73. PMID 8075644 DOI: 10.1038/Ng0594-69  0.6
1993 Michels VV, Pastores GM, Moll PP, Driscoll DJ, Miller FA, Burnett JC, Rodeheffer RJ, Tajik JA, Beggs AH, Kunkel LM. Dystrophin analysis in idiopathic dilated cardiomyopathy. Journal of Medical Genetics. 30: 955-7. PMID 8301653 DOI: 10.1136/Jmg.30.11.955  0.6
1993 Ahn AH, Kunkel LM. The structural and functional diversity of dystrophin. Nature Genetics. 3: 283-91. PMID 7981747 DOI: 10.1038/ng0493-283  0.6
1993 Specht LA, Beggs AH, Korf B, Kunkel LM, Shapiro F. Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy. Pediatric Neurology. 8: 432-6. PMID 1476571 DOI: 10.1016/0887-8994(92)90004-I  0.32
1991 Boyce FM, Beggs AH, Feener C, Kunkel LM. Dystrophin is transcribed in brain from a distant upstream promoter. Proceedings of the National Academy of Sciences of the United States of America. 88: 1276-80. PMID 1996328 DOI: 10.1073/Pnas.88.4.1276  0.36
1991 Lien LL, Boyce FM, Kleyn P, Brzustowicz LM, Menninger J, Ward DC, Gilliam TC, Kunkel LM. Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13 Proceedings of the National Academy of Sciences of the United States of America. 88: 7873-7876. PMID 1881920 DOI: 10.1073/PNAS.88.17.7873  0.6
1990 Beggs AH, Kunkel LM. Improved diagnosis of Duchenne/Becker muscular dystrophy. The Journal of Clinical Investigation. 85: 613-9. PMID 1968908 DOI: 10.1172/Jci114482  0.36
1989 Feener CA, Koenig M, Kunkel LM. Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus Nature. 338: 509-511. PMID 2648158 DOI: 10.1038/338509A0  0.6
1988 Burmeister M, Monaco AP, Gillard EF, van Ommen GJ, Affara NA, Ferguson-Smith MA, Kunkel LM, Lehrach H. A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene. Genomics. 2: 189-202. PMID 3397058 DOI: 10.1016/0888-7543(88)90002-X  0.32
1988 Cooper BJ, Winand NJ, Stedman H, Valentine BA, Hoffman EP, Kunkel LM, Scott MO, Fischbeck KH, Kornegay JN, Avery RJ. The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs. Nature. 334: 154-6. PMID 3290691 DOI: 10.1038/334154A0  0.6
1988 Koenig M, Monaco AP, Kunkel LM. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein Cell. 53: 219-228. PMID 3282674 DOI: 10.1016/0092-8674(88)90383-2  0.6
1988 Hoffman EP, Hudecki MS, Rosenberg PA, Pollina CM, Kunkel LM. Cell and fiber-type distribution of dystrophin. Neuron. 1: 411-20. PMID 3078411 DOI: 10.1016/0896-6273(88)90191-2  0.6
1987 Shiloh Y, Rose E, Colletti-Feener C, Korf B, Kunkel LM, Latt SA. Rapid cloning of multiple amplified nucleotide sequences from human neuroblastoma cell lines by phenol emulsion competitive DNA reassociation. Gene. 51: 53-9. PMID 3596238 DOI: 10.1016/0378-1119(87)90473-2  0.48
1987 Boyd Y, Munro E, Ray P, Worton R, Monaco T, Kunkel L, Craig I. Molecular heterogeneity of translocations associated with muscular dystrophy Clinical Genetics. 31: 265-272. PMID 3594934 DOI: 10.1111/J.1399-0004.1987.Tb02805.X  0.6
1987 Hart KA, Monaco AP, Kunkel LM, Bobrow M. A small deletion in the Duchenne/Becker muscular dystrophy locus--a functionally important region? Human Genetics. 77: 88-91. PMID 3040577 DOI: 10.1007/Bf00284721  0.6
1987 Hoffman EP, Knudson CM, Campbell KP, Kunkel LM. Subcellular fractionation of dystrophin to the triads of skeletal muscle Nature. 330: 754-758. PMID 2447503 DOI: 10.1038/330754A0  0.6
1986 Royer-Pokora B, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cole FS, Curnutte JT, Orkin SH. Cloning the gene for the inherited disorder chronic granulomatous disease on the basis of its chromosomal location. Cold Spring Harbor Symposia On Quantitative Biology. 51: 177-83. PMID 3472714 DOI: 10.1101/Sqb.1986.051.01.021  0.32
1986 Müller U, Tantravahi U, Monaco A, Stroh H, Kunkel LM, Latt SA. Repeated DNA sequences in the distal long arm of the human X chromosome. Human Genetics. 74: 24-9. PMID 3019869 DOI: 10.1007/Bf00278780  0.48
1986 Kunkel LM, Hejtmancik JF, Caskey CT, Speer A, Monaco AP, Middlesworth W, Colletti CA, Bertelson C, Müller U, Bresnan M, Shapiro F, Tantravahi U, Speer J, Latt SA, Bartlett R, et al. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature. 322: 73-7. PMID 3014348 DOI: 10.1038/322073a0  0.48
1986 Baehner RL, Kunkel LM, Monaco AP, Haines JL, Conneally PM, Palmer C, Heerema N, Orkin SH. DNA linkage analysis of X chromosome-linked chronic granulomatous disease Proceedings of the National Academy of Sciences of the United States of America. 83: 3398-3401. PMID 3010296 DOI: 10.1073/Pnas.83.10.3398  0.6
1986 Kwan SP, Kunkel L, Bruns G, Wedgwood RJ, Latt S, Rosen FS. Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism Journal of Clinical Investigation. 77: 649-652. PMID 3003164 DOI: 10.1172/Jci112351  0.6
1986 Bertelson CJ, Bartley JA, Monaco AP, Colletti-Feener C, Fischbeck K, Kunkel LM. Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families Journal of Medical Genetics. 23: 531-537. PMID 2879924 DOI: 10.1136/Jmg.23.6.531  0.6
1986 Fischbeck KH, Ritter AW, Tirschwell DL, Kunkel LM, Bertelson CJ, Monaco AP, Hejtmancik JF, Boehm C, Ionasescu V, Ionasescu R. Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy. Lancet. 2: 104. PMID 2873362 DOI: 10.1016/S0140-6736(86)91634-X  0.6
1986 Royer-Pokora B, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cole FS, Curnutte JT, Orkin SH. Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location. Nature. 322: 32-8. PMID 2425263 DOI: 10.1038/322032A0  0.32
1985 Shiloh Y, Kanda N, Kunkel LM, Bruns G, Sakai K, Latt SA. Two RFLPs identified by a human chromosome #2 clone at 2p15-2p16 (HGM8 assignment no. D2S5). Nucleic Acids Research. 13: 5403. PMID 4022784 DOI: 10.1093/Nar/13.14.5403  0.48
1985 Latt SA, Lalande M, Kunkel LM, Schreck R, Tantravahi U. Applications of fluorescence spectroscopy to molecular cytogenetics. Biopolymers. 24: 77-95. PMID 3886034 DOI: 10.1002/Bip.360240108  0.6
1985 Monaco AP, Bertelson CJ, Middlesworth W, Colletti CA, Aldridge J, Fischbeck KH, Bartlett R, Pericak-Vance MA, Roses AD, Kunkel LM. Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature. 316: 842-5. PMID 2993910 DOI: 10.1038/316842A0  0.6
1985 Brown CS, Thomas NS, Sarfarazi M, Davies KE, Kunkel L, Pearson PL, Kingston HM, Shaw DJ, Harper PS. Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy. Human Genetics. 71: 62-74. PMID 2993158 DOI: 10.1007/Bf00295671  0.6
1985 Kunkel LM, Monaco AP, Middlesworth W, Ochs HD, Latt SA. Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proceedings of the National Academy of Sciences of the United States of America. 82: 4778-82. PMID 2991893 DOI: 10.1073/Pnas.82.14.4778  0.48
1985 Kunkel LM, Lalande M, Monaco AP, Flint A, Middlesworth W, Latt SA. Construction of a human X-chromosome-enriched phage library which facilitates analysis of specific loci. Gene. 33: 251-8. PMID 2989089 DOI: 10.1016/0378-1119(85)90232-X  0.48
1984 Lalande M, Kunkel LM, Flint A, Latt SA. Development and use of metaphase chromosome flow-sorting methodology to obtain recombinant phage libraries enriched for parts of the human X chromosome. Cytometry. 5: 101-7. PMID 6232119 DOI: 10.1002/Cyto.990050202  0.48
1983 Kunkel LM, Tantravahi U, Kurnit DM, Eisenhard M, Bruns GP, Latt SA. Identification and isolation of transcribed human X chromosome DNA sequences. Nucleic Acids Research. 11: 7961-79. PMID 6689068 DOI: 10.1093/Nar/11.22.7961  0.48
1982 Kunkel LM, Tantravahi U, Eisenhard M, Latt SA. Regional localization on the human X of DNA segments cloned from flow sorted chromosomes. Nucleic Acids Research. 10: 1557-78. PMID 6461845 DOI: 10.1093/Nar/10.5.1557  0.48
1982 Kunkel LM, Smith KD. Evolution of human Y-chromosome DNA Chromosoma. 86: 209-228. PMID 6291877 DOI: 10.1007/Bf00288677  0.6
1982 Disteche CM, Kunkel LM, Lojewski A, Orkin SH, Eisenhard M, Sahar E, Travis B, Latt SA. Isolation of mouse x-chromosome specific DNA from an x-enriched lambda phage library derived from flow sorted chromosomes. Cytometry. 2: 282-6. PMID 6210515 DOI: 10.1002/Cyto.990020503  0.48
1982 Clough DW, Kunkel LM, Davidson RL. 5-Azacytidine-induced reactivation of a herpes simplex thymidine kinase gene. Science (New York, N.Y.). 216: 70-3. PMID 6175023 DOI: 10.1126/SCIENCE.6175023  0.6
1979 Kunkel LM, Silberklang M, Mccarthy BJ. A third restriction endonuclease from Xanthomonas malvacearum Journal of Molecular Biology. 132: 133-139. PMID 159959 DOI: 10.1016/0022-2836(79)90499-6  0.6
1976 Smith KD, Kunkel L, Boyer SH. Isolation and uses of chromosome-specific reiterated DNA Birth Defects: Original Article Series. 12: 401-404. PMID 799525  0.6
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