James J. Dowling, M.D., Ph.D. - Publications

Pediatrics, Neurology University of Michigan, Ann Arbor, Ann Arbor, MI 
Congenital Muscular Disease

76 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
2016 Sabha N, Volpatti JR, Gonorazky H, Reifler A, Davidson AE, Li X, Eltayeb NM, Dall'Armi C, Di Paolo G, Brooks SV, Buj-Bello A, Feldman EL, Dowling JJ. PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models. The Journal of Clinical Investigation. PMID 27548528 DOI: 10.1172/Jci86841  0.72
2016 Hanwell D, Hutchinson SA, Collymore C, Bruce AE, Louis R, Ghalami A, Allison WT, Ekker M, Eames BF, Childs S, Kurrasch DM, Gerlai R, Thiele T, Scott I, Ciruna B, ... Dowling JJ, et al. Restrictions on the Importation of Zebrafish into Canada Associated with Spring Viremia of Carp Virus. Zebrafish. PMID 27248438 DOI: 10.1089/zeb.2016.1286  0.72
2016 Bamaga AK, Riazi S, Amburgey K, Ong S, Halliday W, Diamandis P, Guerguerian AM, Dowling JJ, Yoon G. Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study. Neuromuscular Disorders : Nmd. PMID 26951757 DOI: 10.1016/J.Nmd.2016.02.007  0.72
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  0.72
2016 Jones JM, Dionne L, Dell'Orco J, Parent R, Krueger JN, Cheng X, Dib-Hajj SD, Bunton-Stasyshyn RK, Sharkey LM, Dowling JJ, Murphy GG, Shakkottai VG, Shrager P, Meisler MH. Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder. Neurobiology of Disease. PMID 26807988 DOI: 10.1016/J.Nbd.2016.01.018  0.72
2015 Smith SJ, Horstick EJ, Davidson AE, Dowling J. Analysis of Zebrafish Larvae Skeletal Muscle Integrity with Evans Blue Dye. Journal of Visualized Experiments : Jove. PMID 26649573 DOI: 10.3791/53183  0.72
2015 Dowling JJ, Moore SA, Kalimo H, Minassian BA. X-linked myopathy with excessive autophagy: a failure of self-eating. Acta Neuropathologica. 129: 383-90. PMID 25644398 DOI: 10.1007/S00401-015-1393-4  0.72
2014 Burns R, Majczenko K, Xu J, Peng W, Yapici Z, Dowling JJ, Li JZ, Burmeister M. Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. Neurology. 83: 2175-82. PMID 25361784 DOI: 10.1212/Wnl.0000000000001053  0.72
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, 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  0.72
2014 Cheng X, Zhang X, Gao Q, Ali Samie M, Azar M, Tsang WL, Dong L, Sahoo N, Li X, Zhuo Y, Garrity AG, Wang X, Ferrer M, Dowling J, Xu L, et al. The intracellular Ca²⁺ channel MCOLN1 is required for sarcolemma repair to prevent muscular dystrophy. Nature Medicine. 20: 1187-92. PMID 25216637 DOI: 10.1038/Nm.3611  0.72
2014 Riazi S, Kraeva N, Muldoon SM, Dowling J, Ho C, Petre MA, Parness J, Dirksen RT, Rosenberg H. Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference. Canadian Journal of Anaesthesia = Journal Canadien D'AnesthéSie. 61: 1040-9. PMID 25189431 DOI: 10.1007/S12630-014-0227-5  0.72
2014 Dowling JJ, Lawlor MW, Dirksen RT. Triadopathies: an emerging class of skeletal muscle diseases. Neurotherapeutics : the Journal of the American Society For Experimental Neurotherapeutics. 11: 773-85. PMID 25168790 DOI: 10.1007/S13311-014-0300-3  0.72
2014 Waugh TA, Horstick E, Hur J, Jackson SW, Davidson AE, Li X, Dowling JJ. Fluoxetine prevents dystrophic changes in a zebrafish model of Duchenne muscular dystrophy. Human Molecular Genetics. 23: 4651-62. PMID 24760771 DOI: 10.1093/Hmg/Ddu185  0.72
2014 Reifler A, Li X, Archambeau AJ, McDade JR, Sabha N, Michele DE, Dowling JJ. Conditional knockout of pik3c3 causes a murine muscular dystrophy. The American Journal of Pathology. 184: 1819-30. PMID 24726497 DOI: 10.1016/J.Ajpath.2014.02.012  0.72
2014 Raeker MÖ, Shavit JA, Dowling JJ, Michele DE, Russell MW. Membrane-myofibril cross-talk in myofibrillogenesis and in muscular dystrophy pathogenesis: lessons from the zebrafish. Frontiers in Physiology. 5: 14. PMID 24478725 DOI: 10.3389/Fphys.2014.00014  0.72
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  0.72
2014 Fero K, Bergeron SA, Horstick EJ, Codore H, Li GH, Ono F, Dowling JJ, Burgess HA. Impaired embryonic motility in dusp27 mutants reveals a developmental defect in myofibril structure. Disease Models & Mechanisms. 7: 289-98. PMID 24203884 DOI: 10.1242/Dmm.013235  0.72
2014 Gibbs EM, Davidson AE, Telfer WR, Feldman EL, Dowling JJ. The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish. Disease Models & Mechanisms. 7: 157-61. PMID 24135484 DOI: 10.1242/Dmm.012286  0.72
2014 Todd PK, Ackall FY, Hur J, Sharma K, Paulson HL, Dowling JJ. Transcriptional changes and developmental abnormalities in a zebrafish model of myotonic dystrophy type 1. Disease Models & Mechanisms. 7: 143-55. PMID 24092878 DOI: 10.1242/Dmm.012427  0.72
2014 Dowling JJ, North KN, Goebel HH, Beggs AH. Congenital and Other Structural Myopathies Neuromuscular Disorders of Infancy, Childhood, and Adolescence: a Clinician's Approach. 499-537. DOI: 10.1016/B978-0-12-417044-5.00028-7  0.72
2013 Horstick EJ, Gibbs EM, Li X, Davidson AE, Dowling JJ. Analysis of embryonic and larval zebrafish skeletal myofibers from dissociated preparations. Journal of Visualized Experiments : Jove. e50259. PMID 24300240 DOI: 10.3791/50259  0.72
2013 Reifler A, Lenk GM, Li X, Groom L, Brooks SV, Wilson D, Bowerson M, Dirksen RT, Meisler MH, Dowling JJ. Murine Fig4 is dispensable for muscle development but required for muscle function. Skeletal Muscle. 3: 21. PMID 24004519 DOI: 10.1186/2044-5040-3-21  0.72
2013 Dowling JJ. Titin and centronuclear myopathy: The tip of the iceberg for TTN-ic mutations? Neurology. 81: 1189-90. PMID 23975873 DOI: 10.1212/Wnl.0B013E3182A6Cc43  0.72
2013 Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ. Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet Journal of Rare Diseases. 8: 117. PMID 23919265 DOI: 10.1186/1750-1172-8-117  0.72
2013 Sloboda DD, Claflin DR, Dowling JJ, Brooks SV. Force measurement during contraction to assess muscle function in zebrafish larvae. Journal of Visualized Experiments : Jove. PMID 23912162 DOI: 10.3791/50539  0.72
2013 Pluskota E, Ma Y, Bledzka KM, Bialkowska K, Soloviev DA, Szpak D, Podrez EA, Fox PL, Hazen SL, Dowling JJ, Ma YQ, Plow EF. Kindlin-2 regulates hemostasis by controlling endothelial cell-surface expression of ADP/AMP catabolic enzymes via a clathrin-dependent mechanism. Blood. 122: 2491-9. PMID 23896409 DOI: 10.1182/Blood-2013-04-497669  0.72
2013 Gibbs EM, Horstick EJ, Dowling JJ. Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies. The Febs Journal. 280: 4187-97. PMID 23809187 DOI: 10.1111/Febs.12412  0.72
2013 Horstick EJ, Linsley JW, Dowling JJ, Hauser MA, McDonald KK, Ashley-Koch A, Saint-Amant L, Satish A, Cui WW, Zhou W, Sprague SM, Stamm DS, Powell CM, Speer MC, Franzini-Armstrong C, et al. Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. Nature Communications. 4: 1952. PMID 23736855 DOI: 10.1038/Ncomms2952  0.72
2013 Bharucha-Goebel DX, Santi M, Medne L, Zukosky K, Zukosky K, Dastgir J, Shieh PB, Winder T, Tennekoon G, Finkel RS, Dowling JJ, Monnier N, Bönnemann CG. Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. Neurology. 80: 1584-9. PMID 23553484 DOI: 10.1212/Wnl.0B013E3182900380  0.72
2013 Clarke NF, Amburgey K, Teener J, Camelo-Piragua S, Kesari A, Punetha J, Waddell LB, Davis M, Laing NG, Monnier N, North KN, Hoffman EP, Dowling JJ. A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies. Neuromuscular Disorders : Nmd. 23: 432-6. PMID 23478172 DOI: 10.1016/J.Nmd.2013.02.009  0.72
2013 Gibbs EM, Davidson AE, Trickey-Glassman A, Backus C, Hong Y, Sakowski SA, Dowling JJ, Feldman EL. Two dynamin-2 genes are required for normal zebrafish development. Plos One. 8: e55888. PMID 23418470 DOI: 10.1371/Journal.Pone.0055888  0.72
2013 Davidson AE, Siddiqui FM, Lopez MA, Lunt P, Carlson HA, Moore BE, Love S, Born DE, Roper H, Majumdar A, Jayadev S, Underhill HR, Smith CO, von der Hagen M, Hubner A, ... ... Dowling JJ, et al. Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. Brain : a Journal of Neurology. 136: 508-21. PMID 23413262 DOI: 10.1093/Brain/Aws344  0.72
2013 Gibbs EM, Clarke NF, Rose K, Oates EC, Webster R, Feldman EL, Dowling JJ. Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy. Journal of Molecular Medicine (Berlin, Germany). 91: 727-37. PMID 23338057 DOI: 10.1007/S00109-013-0994-4  0.72
2013 Amburgey K, Lawlor MW, Del Gaudio D, Cheng YW, Fitzpatrick C, Minor A, Li X, Aughton D, Das S, Beggs AH, Dowling JJ. Large duplication in MTM1 associated with myotubular myopathy. Neuromuscular Disorders : Nmd. 23: 214-8. PMID 23273872 DOI: 10.1016/J.Nmd.2012.11.010  0.72
2012 Sakowski SA, Lunn JS, Busta AS, Oh SS, Zamora-Berridi G, Palmer M, Rosenberg AA, Philip SG, Dowling JJ, Feldman EL. Neuromuscular effects of G93A-SOD1 expression in zebrafish. Molecular Neurodegeneration. 7: 44. PMID 22938571 DOI: 10.1186/1750-1326-7-44  0.72
2012 McKeever PE, Camelo-Piragua S, Dowling J. External and internal influences on muscle pathology. Archives of Pathology & Laboratory Medicine. 136: 927-34. PMID 22849742 DOI: 10.5858/Arpa.2012-0232-Cr  0.72
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  0.72
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  0.72
2012 Ferguson CJ, Lenk GM, Jones JM, Grant AE, Winters JJ, Dowling JJ, Giger RJ, Meisler MH. Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration. Human Molecular Genetics. 21: 3525-34. PMID 22581779 DOI: 10.1093/Hmg/Dds179  0.72
2012 Wang CH, Dowling JJ, North K, Schroth MK, Sejersen T, Shapiro F, Bellini J, Weiss H, Guillet M, Amburgey K, Apkon S, Bertini E, Bonnemann C, Clarke N, Connolly AM, et al. Consensus statement on standard of care for congenital myopathies. Journal of Child Neurology. 27: 363-82. PMID 22431881 DOI: 10.1177/0883073812436605  0.72
2012 Dowling JJ, Arbogast S, Hur J, Nelson DD, McEvoy A, Waugh T, Marty I, Lunardi J, Brooks SV, Kuwada JY, Ferreiro A. Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy. Brain : a Journal of Neurology. 135: 1115-27. PMID 22418739 DOI: 10.1093/Brain/Aws036  0.72
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, ... ... Dowling J, 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  0.72
2012 Nance JR, Dowling JJ, Gibbs EM, Bönnemann CG. Congenital myopathies: an update. Current Neurology and Neuroscience Reports. 12: 165-74. PMID 22392505 DOI: 10.1007/S11910-012-0255-X  0.72
2012 Huismann DJ, Sheldon JP, Yashar BM, Amburgey K, Dowling JJ, Petty EM. Quality of life and autonomy in emerging adults with early-onset neuromuscular disorders. Journal of Genetic Counseling. 21: 713-25. PMID 22367485 DOI: 10.1007/S10897-012-9492-Z  0.72
2012 Sakowski SA, Lunn JS, Busta AS, Palmer M, Dowling JJ, Feldman EL. A novel approach to study motor neurons from zebrafish embryos and larvae in culture. Journal of Neuroscience Methods. 205: 277-82. PMID 22285259 DOI: 10.1016/J.Jneumeth.2012.01.007  0.72
2012 Jungbluth H, Dowling JJ, Ferreiro A, Muntoni F. 182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands. Neuromuscular Disorders : Nmd. 22: 453-62. PMID 22226685 DOI: 10.1016/J.Nmd.2011.12.003  0.72
2012 Telfer WR, Nelson DD, Waugh T, Brooks SV, Dowling JJ. Neb: a zebrafish model of nemaline myopathy due to nebulin mutation. Disease Models & Mechanisms. 5: 389-96. PMID 22159874 DOI: 10.1242/Dmm.008631  0.72
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  0.72
2011 Amburgey K, McNamara N, Bennett LR, McCormick ME, Acsadi G, Dowling JJ. Prevalence of congenital myopathies in a representative pediatric united states population. Annals of Neurology. 70: 662-5. PMID 22028225 DOI: 10.1002/Ana.22510  0.72
2011 Lenk GM, Ferguson CJ, Chow CY, Jin N, Jones JM, Grant AE, Zolov SN, Winters JJ, Giger RJ, Dowling JJ, Weisman LS, Meisler MH. Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J. Plos Genetics. 7: e1002104. PMID 21655088 DOI: 10.1371/Journal.Pgen.1002104  0.72
2011 Dowling JJ, Lillis S, Amburgey K, Zhou H, Al-Sarraj S, Buk SJ, Wraige E, Chow G, Abbs S, Leber S, Lachlan K, Baralle D, Taylor A, Sewry C, Muntoni F, et al. King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscular Disorders : Nmd. 21: 420-7. PMID 21514828 DOI: 10.1016/J.Nmd.2011.03.006  0.72
2011 Robb SA, Sewry CA, Dowling JJ, Feng L, Cullup T, Lillis S, Abbs S, Lees MM, Laporte J, Manzur AY, Knight RK, Mills KR, Pike MG, Kress W, Beeson D, et al. Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies. Neuromuscular Disorders : Nmd. 21: 379-86. PMID 21440438 DOI: 10.1016/J.Nmd.2011.02.012  0.72
2011 Pluskota E, Dowling JJ, Gordon N, Golden JA, Szpak D, West XZ, Nestor C, Ma YQ, Bialkowska K, Byzova T, Plow EF. The integrin coactivator kindlin-2 plays a critical role in angiogenesis in mice and zebrafish. Blood. 117: 4978-87. PMID 21378273 DOI: 10.1182/Blood-2010-11-321182  0.72
2011 Ribeiro I, Yuan L, Tanentzapf G, Dowling JJ, Kiger A. Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance. Plos Genetics. 7: e1001295. PMID 21347281 DOI: 10.1371/Journal.Pgen.1001295  0.72
2010 Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, Müller CR, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling JJ, et al. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Annals of Neurology. 68: 717-26. PMID 20839240 DOI: 10.1002/ana.22119  0.72
2010 Ward AJ, Rimer M, Killian JM, Dowling JJ, Cooper TA. CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1. Human Molecular Genetics. 19: 3614-22. PMID 20603324 DOI: 10.1093/Hmg/Ddq277  0.72
2010 Gibbs EM, Feldman EL, Dowling JJ. The role of MTMR14 in autophagy and in muscle disease. Autophagy. 6: 819-20. PMID 20595810 DOI: 10.4161/Auto.6.6.12624  0.72
2010 Dowling JJ, Low SE, Busta AS, Feldman EL. Zebrafish MTMR14 is required for excitation-contraction coupling, developmental motor function and the regulation of autophagy. Human Molecular Genetics. 19: 2668-81. PMID 20400459 DOI: 10.1093/Hmg/Ddq153  0.72
2010 Telfer WR, Busta AS, Bonnemann CG, Feldman EL, Dowling JJ. Zebrafish models of collagen VI-related myopathies. Human Molecular Genetics. 19: 2433-44. PMID 20338942 DOI: 10.1093/Hmg/Ddq126  0.72
2010 Susman RD, Quijano-Roy S, Yang N, Webster R, Clarke NF, Dowling J, Kennerson M, Nicholson G, Biancalana V, Ilkovski B, Flanigan KM, Arbuckle S, Malladi C, Robinson P, Vucic S, et al. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscular Disorders : Nmd. 20: 229-37. PMID 20227276 DOI: 10.1016/J.Nmd.2010.02.016  0.72
2009 Dowling JJ, Vreede AP, Low SE, Gibbs EM, Kuwada JY, Bonnemann CG, Feldman EL. Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. Plos Genetics. 5: e1000372. PMID 19197364 DOI: 10.1371/Journal.Pgen.1000372  0.72
2008 Dowling JJ, Vreede AP, Kim S, Golden J, Feldman EL. Kindlin-2 is required for myocyte elongation and is essential for myogenesis. Bmc Cell Biology. 9: 36. PMID 18611274 DOI: 10.1186/1471-2121-9-36  0.72
2008 Dowling JJ, Gibbs EM, Feldman EL. Membrane traffic and muscle: lessons from human disease. Traffic (Copenhagen, Denmark). 9: 1035-43. PMID 18266915 DOI: 10.1111/J.1600-0854.2008.00716.X  0.72
2008 Dowling JJ, Gibbs E, Russell M, Goldman D, Minarcik J, Golden JA, Feldman EL. Kindlin-2 is an essential component of intercalated discs and is required for vertebrate cardiac structure and function. Circulation Research. 102: 423-31. PMID 18174465 DOI: 10.1161/Circresaha.107.161489  0.72
2007 Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature. 448: 68-72. PMID 17572665 DOI: 10.1038/Nature05876  0.72
2003 Ramocki MB, Dowling J, Grinberg I, Kimonis VE, Cardoso C, Gross A, Chung J, Martin CL, Ledbetter DH, Dobyns WB, Millen KJ. Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32. European Journal of Human Genetics : Ejhg. 11: 527-34. PMID 12825074 DOI: 10.1038/Sj.Ejhg.5200995  0.72
2002 Cardoso C, Leventer RJ, Dowling JJ, Ward HL, Chung J, Petras KS, Roseberry JA, Weiss AM, Das S, Martin CL, Pilz DT, Dobyns WB, Ledbetter DH. Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). Human Mutation. 19: 4-15. PMID 11754098 DOI: 10.1002/Humu.10028  0.72
2001 Dowling JJ, Hack AA. Introduction to molecular and clinical genetics Best Practice and Research: Clinical Anaesthesiology. 15: 155-168. DOI: 10.1053/Bean.2001.0149  0.72
1999 Frei R, Dowling J, Carenini S, Fuchs E, Martini R. Myelin formation by Schwann cells in the absence of integrin Glia. 27: 269-274. PMID 10457373 DOI: 10.1002/(Sici)1098-1136(199909)27:3<269::Aid-Glia8>3.0.Co;2-2  0.72
1997 Fuchs E, Dowling J, Segre J, Lo SH, Yu QC. Integrators of epidermal growth and differentiation: Distinct functions for β1 and β4 integrins Current Opinion in Genetics and Development. 7: 672-682. PMID 9388785 DOI: 10.1016/S0959-437X(97)80016-0  0.72
1997 Dowling J, Yang Y, Wollmann R, Reichardt LF, Fuchs E. Developmental expression of BPAG1-n: insights into the spastic ataxia and gross neurologic degeneration in dystonia musculorum mice. Developmental Biology. 187: 131-42. PMID 9242412 DOI: 10.1006/Dbio.1997.8567  0.72
1997 Fuchs E, Yang Y, Dowling J, Kouklis P, Smith E, Guo L, Yu QC. Intermediate filament linker proteins Society of General Physiologists Series. 52: 141-148. PMID 9210226  0.72
1997 Fuchs E, Yang Y, Dowling J, Lo S, Yu Q, Allen E, Degenstein L, Lee E. Genetic disorders of the cytoskeleton Faseb Journal. 11: A1005.  0.72
1996 Yang Y, Dowling J, Yu QC, Kouklis P, Cleveland DW, Fuchs E. An essential cytoskeletal linker protein connecting actin microfilaments to intermediate filaments. Cell. 86: 655-65. PMID 8752219 DOI: 10.1016/S0092-8674(00)80138-5  0.72
1996 Dowling J, Yu QC, Fuchs E. β4 Integrin is required for hemidesmosome formation, cell adhesion and cell survival Journal of Cell Biology. 134: 559-572. PMID 8707838 DOI: 10.1083/Jcb.134.2.559  0.72
1995 Guo L, Degenstein L, Dowling J, Yu QC, Wollmann R, Perman B, Fuchs E. Gene targeting of BPAG1: Abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration Cell. 81: 233-243. PMID 7736575 DOI: 10.1016/0092-8674(95)90333-X  0.72
Show low-probability matches.