| Year |
Citation |
Score |
| 2023 |
Widrick JJ, Lambert MR, Kunkel LM, Beggs AH. Optimizing assays of zebrafish larvae swimming performance for drug discovery. Expert Opinion On Drug Discovery. 1-13. PMID 37183669 DOI: 10.1080/17460441.2023.2211802 |
0.547 |
|
| 2022 |
Estrella E, Rockowitz S, Thorne M, Smith P, Petit J, Zehnder V, Yu RN, Bauer S, Berde C, Agrawal PB, Beggs AH, Gharavi AG, Kunkel L, Brownstein CA. Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort. Advanced Genetics (Hoboken, N.J.). 4: 2200013. PMID 36910591 DOI: 10.1002/ggn2.202200013 |
0.678 |
|
| 2022 |
Shelton GD, Minor KM, Vieira NM, Kunkel LM, Friedenberg SG, Cullen JN, Guo LT, Zatz M, Mickelson JR. Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype. Neuromuscular Disorders : Nmd. PMID 36041985 DOI: 10.1016/j.nmd.2022.08.001 |
0.376 |
|
| 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 |
0.563 |
|
| 2020 |
Lambert MR, Spinazzola JM, Widrick JJ, Pakula A, Conner JR, Chin JE, Owens JM, Kunkel LM. PDE10A inhibition reduces the manifestation of pathology in DMD zebrafish and represses the genetic modifier PITPNA. Molecular Therapy : the Journal of the American Society of Gene Therapy. PMID 33221436 DOI: 10.1016/j.ymthe.2020.11.021 |
0.316 |
|
| 2020 |
Lek A, Zhang Y, Woodman KG, Huang S, DeSimone AM, Cohen J, Ho V, Conner J, Mead L, Kodani A, Pakula A, Sanjana N, King OD, Jones PL, Wagner KR, ... ... Kunkel LM, et al. Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy. Science Translational Medicine. 12. PMID 32213627 DOI: 10.1126/Scitranslmed.Aay0271 |
0.577 |
|
| 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 |
0.586 |
|
| 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 |
0.684 |
|
| 2018 |
Pakula A, Lek A, Widrick J, Mitsuhashi H, Bugda Gwilt KM, Gupta VM, Rahimov F, Criscione J, Zhang Y, Gibbs D, Murphy Q, Manglik A, Mead L, Kunkel L. Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis. Human Molecular Genetics. PMID 30307508 DOI: 10.1093/Hmg/Ddy348 |
0.629 |
|
| 2018 |
Serafini PR, Feyder MJ, Hightower RM, Garcia-Perez D, Vieira NM, Lek A, Gibbs DE, Moukha-Chafiq O, Augelli-Szafran CE, Kawahara G, Widrick JJ, Kunkel LM, Alexander MS. A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies. Jci Insight. 3. PMID 30232282 DOI: 10.1172/Jci.Insight.120493 |
0.316 |
|
| 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 |
0.687 |
|
| 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 |
0.67 |
|
| 2017 |
Vieira NM, Spinazzola JM, Alexander MS, Moreira YB, Kawahara G, Gibbs DE, Mead LC, Verjovski-Almeida S, Zatz M, Kunkel LM. Repression of phosphatidylinositol transfer protein α ameliorates the pathology of Duchenne muscular dystrophy. Proceedings of the National Academy of Sciences of the United States of America. PMID 28533404 DOI: 10.1073/pnas.1703556114 |
0.331 |
|
| 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 |
0.616 |
|
| 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 |
0.688 |
|
| 2016 |
Alexander MS, Rozkalne A, Colletta A, Spinazzola JM, Johnson S, Rahimov F, Meng H, Lawlor MW, Estrella E, Kunkel LM, Gussoni E. CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies. Cell Stem Cell. PMID 27641304 DOI: 10.1016/j.stem.2016.08.006 |
0.516 |
|
| 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 |
0.655 |
|
| 2016 |
Vieira N, Assoni A, Elvers I, Alexander M, Eran A, Marshall J, Verjovski-Almeida S, Lindblad-Toh K, Kunkel L, Zatz M. Jagged1 as a modifier of the DMD phenotype: What is next? Neuromuscular Disorders. 26. DOI: 10.1016/J.Nmd.2016.06.255 |
0.305 |
|
| 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 |
0.318 |
|
| 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 |
0.304 |
|
| 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 |
0.305 |
|
| 2015 |
Al-Zaidy SA, Malik V, Kneile K, Rosales XQ, Gomez AM, Lewis S, Hashimoto S, Gastier-Foster J, Kang P, Darras B, Kunkel L, Carlo J, Sahenk Z, Moore SA, Pyatt R, et al. A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics. Molecular Genetics & Genomic Medicine. 3: 92-8. PMID 25802879 DOI: 10.1002/Mgg3.125 |
0.404 |
|
| 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 |
0.613 |
|
| 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 |
0.357 |
|
| 2014 |
Wang Y, Marino-Enriquez A, Bennett R, Zhu M, Eilers G, Antonescu C, Fletche C, Raut C, Rijn Mvd, Kunkel L, Demetri G, Fletcher J. Abstract 1572: Dystrophin Is a tumor suppressor in human cancers with myogenic programs Cancer Research. 74: 1572-1572. DOI: 10.1158/1538-7445.Am2014-1572 |
0.344 |
|
| 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 |
0.341 |
|
| 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 |
0.354 |
|
| 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 |
0.345 |
|
| 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 |
0.756 |
|
| 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 |
0.76 |
|
| 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 |
0.329 |
|
| 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 |
0.65 |
|
| 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 |
0.728 |
|
| 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 |
0.335 |
|
| 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 |
0.331 |
|
| 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 |
0.761 |
|
| 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 |
0.386 |
|
| 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 |
0.625 |
|
| 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 |
0.344 |
|
| 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 |
0.318 |
|
| 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 |
0.688 |
|
| 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 |
0.719 |
|
| 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 |
0.379 |
|
| 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 |
0.342 |
|
| 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 |
0.333 |
|
| 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 |
0.648 |
|
| 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 |
0.663 |
|
| 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 |
0.605 |
|
| 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 |
0.658 |
|
| 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 |
0.639 |
|
| 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 |
0.652 |
|
| 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 |
0.601 |
|
| 2003 |
Dalkilic I, Kunkel LM. Muscular dystrophies: genes to pathogenesis. Current Opinion in Genetics & Development. 13: 231-8. PMID 12787784 |
0.316 |
|
| 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 |
0.666 |
|
| 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 |
0.666 |
|
| 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 |
0.676 |
|
| 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 |
0.585 |
|
| 2002 |
Perls T, Kunkel L, Puca A. The genetics of aging. Current Opinion in Genetics & Development. 12: 362-9. PMID 12076681 DOI: 10.1016/S0959-437X(02)00310-6 |
0.32 |
|
| 2001 |
Mizuno Y, Puca AA, O'Brien KF, Beggs AH, Kunkel LM. Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3. Bmc Genetics. 2: 8. PMID 11454237 DOI: 10.1186/1471-2156-2-8 |
0.653 |
|
| 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 |
0.757 |
|
| 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 |
0.662 |
|
| 2001 |
Olby NJ, Sharp NJ, Anderson LV, Kunkel LM, Bönnemann CG. Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers. Neuromuscular Disorders : Nmd. 11: 41-9. PMID 11166165 DOI: 10.1016/S0960-8966(00)00166-8 |
0.315 |
|
| 2001 |
Takada F, Woude DLV, Tong H, Thompson TG, Watkins SC, Kunkel LM, Beggs AH. Myozenin: An -actinin- and -filamin-binding protein of skeletal muscle Z lines Proceedings of the National Academy of Sciences. 98: 1595-1600. DOI: 10.1073/Pnas.98.4.1595 |
0.669 |
|
| 2000 |
Sadoulet-Puccio HM, Feener CA, Schaid DJ, Thibodeau SN, Michels VV, Kunkel LM. The genomic organization of human dystrobrevin. Neurogenetics. 1: 37-42. PMID 10735273 DOI: 10.1007/s100480050006 |
0.335 |
|
| 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 |
0.304 |
|
| 1998 |
Chan Y, Tong HQ, Beggs AH, Kunkel LM. Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo. Biochemical and Biophysical Research Communications. 248: 134-9. PMID 9675099 DOI: 10.1006/Bbrc.1998.8920 |
0.616 |
|
| 1998 |
McNally EM, de Sá Moreira E, Duggan DJ, Bönnemann CG, Lisanti MP, Lidov HG, Vainzof M, Passos-Bueno MR, Hoffman EP, Zatz M, Kunkel LM. Caveolin-3 in muscular dystrophy. Human Molecular Genetics. 7: 871-7. PMID 9536092 DOI: 10.1093/Hmg/7.5.871 |
0.308 |
|
| 1998 |
Khurana TS, Specht LA, Beggs AH, Tomé FM, Letureq F, Chevallay M, Chafey P, Kunkel LM. The concomitant use of dystrophin and utrophin/dystrophin related protein antibodies to reduce misdiagnosis of Duchenne/Becker muscular dystrophy. Biochemical and Biophysical Research Communications. 241: 232-5. PMID 9425255 DOI: 10.1006/Bbrc.1997.7799 |
0.584 |
|
| 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 |
0.332 |
|
| 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 |
0.652 |
|
| 1996 |
McNally EM, Duggan D, Gorospe JR, Bönnemann CG, Fanin M, Pegoraro E, Lidov HG, Noguchi S, Ozawa E, Finkel RS, Cruse RP, Angelini C, Kunkel LM, Hoffman EP. Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. Human Molecular Genetics. 5: 1841-7. PMID 8923014 DOI: 10.1093/Hmg/5.11.1841 |
0.302 |
|
| 1995 |
Byers TJ, Beggs AH, McNally EM, Kunkel LM. Novel actin crosslinker superfamily member identified by a two step degenerate PCR procedure. Febs Letters. 368: 500-4. PMID 7635207 DOI: 10.1016/0014-5793(95)00722-L |
0.605 |
|
| 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 |
0.33 |
|
| 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 |
0.669 |
|
| 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 |
0.786 |
|
| 1994 |
McNally EM, Yoshida M, Mizuno Y, Ozawa E, Kunkel LM. Human adhalin is alternatively spliced and the gene is located on chromosome 17q21. Proceedings of the National Academy of Sciences of the United States of America. 91: 9690-4. PMID 7937874 DOI: 10.1073/Pnas.91.21.9690 |
0.369 |
|
| 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 |
0.63 |
|
| 1993 |
Beggs AH, Hoffman EP, Kunkel LM. Additional dystrophin fragment in Becker muscular dystrophy may result from proteolytic cleavage at deletion junctions. American Journal of Medical Genetics. 44: 378-81. PMID 1488990 DOI: 10.1002/Ajmg.1320440322 |
0.659 |
|
| 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 |
0.651 |
|
| 1992 |
Beggs AH, Phillips HA, Kozman H, Mulley JC, Wilton SD, Kunkel LM, Laing NG. A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1. Genomics. 13: 1314-5. PMID 1505962 DOI: 10.1016/0888-7543(92)90054-V |
0.644 |
|
| 1991 |
Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Human Genetics. 86: 45-8. PMID 2253937 DOI: 10.1007/Bf00205170 |
0.632 |
|
| 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 |
0.631 |
|
| 1990 |
Angelini C, Beggs AH, Hoffman EP, Fanin M, Kunkel LM. Enormous dystrophin in a patient with Becker muscular dystrophy. Neurology. 40: 808-12. PMID 2158637 DOI: 10.1212/Wnl.40.5.808 |
0.653 |
|
| 1990 |
Beggs AH, Kunkel LM. A polymorphic CACA repeat in the 3' untranslated region of dystrophin. Nucleic Acids Research. 18: 1931. PMID 1970874 DOI: 10.1093/Nar/18.7.1931 |
0.563 |
|
| 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 |
0.561 |
|
| 1989 |
Kunkel LM. The Wellcome lecture, 1988. Muscular dystrophy: a time of hope. Proceedings of the Royal Society of London. Series B, Biological Sciences. 237: 1-9. PMID 2569197 DOI: 10.1098/rspb.1989.0032 |
0.333 |
|
| 1989 |
Hoffman EP, Beggs AH, Koenig M, Kunkel LM, Angelini C. Cross-reactive protein in Duchenne muscle. Lancet (London, England). 2: 1211-2. PMID 2478850 DOI: 10.1016/S0140-6736(89)91812-6 |
0.619 |
|
| 1988 |
Kunkel LM, Monaco AP, Hoffman E, Koenig M, Feener C, Bertelson C. Molecular studies of progressive muscular dystrophy (Duchenne). Enzyme. 38: 72-5. PMID 3440453 DOI: 10.1159/000469192 |
0.505 |
|
| 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 |
0.42 |
|
| 1988 |
Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics. 2: 90-5. PMID 3384440 DOI: 10.1016/0888-7543(88)90113-9 |
0.459 |
|
| 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 |
0.324 |
|
| 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 |
0.373 |
|
| 1988 |
Monaco AP, Kunkel LM. Cloning of the Duchenne/Becker muscular dystrophy locus. Advances in Human Genetics. 17: 61-98. PMID 3055851 DOI: 10.1007/978-1-4613-0987-1_3 |
0.433 |
|
| 1988 |
Koenig M, Hoffman E, Monaco AP, Bertelson C, Feener C, Kunkel LM. The giant Duchenne muscular dystrophy gene and its protein product Fresenius' Zeitschrift FüR Analytische Chemie. 330: 301-301. DOI: 10.1007/Bf00469213 |
0.419 |
|
| 1987 |
Hoffman EP, Monaco AP, Feener CC, Kunkel LM. Conservation of the Duchenne muscular dystrophy gene in mice and humans. Science (New York, N.Y.). 238: 347-50. PMID 3659917 DOI: 10.1126/Science.3659917 |
0.543 |
|
| 1987 |
Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell. 50: 509-17. PMID 3607877 DOI: 10.1016/0092-8674(87)90504-6 |
0.513 |
|
| 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 |
0.532 |
|
| 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 |
0.38 |
|
| 1987 |
Kunkel LM, Monaco AP, Bertelson CJ, Colletti CA. Molecular genetics of Duchenne muscular dystrophy. Cold Spring Harbor Symposia On Quantitative Biology. 349-51. PMID 3472731 DOI: 10.1101/Sqb.1986.051.01.041 |
0.377 |
|
| 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 |
0.488 |
|
| 1987 |
Monaco AP, Bertelson CJ, Colletti-Feener C, Kunkel LM. Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy. Human Genetics. 75: 221-7. PMID 2881877 DOI: 10.1007/Bf00281063 |
0.483 |
|
| 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 |
0.327 |
|
| 1987 |
Monaco AP, Kunkel LM. A giant locus for the Duchenne and Becker muscular dystrophy gene Trends in Genetics. 3: 33-37. DOI: 10.1016/0168-9525(87)90163-6 |
0.528 |
|
| 1986 |
Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel LM. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature. 323: 646-50. PMID 3773991 DOI: 10.1038/323646A0 |
0.536 |
|
| 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 |
0.441 |
|
| 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 |
0.631 |
|
| 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 |
0.6 |
|
| 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 |
0.474 |
|
| 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 |
0.606 |
|
| 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 |
0.421 |
|
| 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 |
0.386 |
|
| 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 |
0.491 |
|
| 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 |
0.522 |
|
| 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 |
0.54 |
|
| 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 |
0.455 |
|
| 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 |
0.365 |
|
| 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 |
0.637 |
|
| 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 |
0.641 |
|
| 1985 |
Kunkel L, Burns G, Aldrige J, Latt S. Genetic analysis of Duchenne dystrophy. Advances in Experimental Medicine and Biology. 182: 287-94. PMID 2988292 DOI: 10.1007/978-1-4684-4907-5_26 |
0.651 |
|
| 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 |
0.547 |
|
| 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 |
0.56 |
|
| 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 |
0.558 |
|
| 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 |
0.556 |
|
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