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Items: 1 to 20 of 95

1.

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons.

Lawlor MW, Beggs AH, Buj-Bello A, Childers MK, Dowling JJ, James ES, Meng H, Moore SA, Prasad S, Schoser B, Sewry CA.

J Neuropathol Exp Neurol. 2016 Jan 28. pii: nlv020. [Epub ahead of print]

PMID:
26823526
2.

Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder.

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.

Neurobiol Dis. 2016 Jan 22;89:36-45. doi: 10.1016/j.nbd.2016.01.018. [Epub ahead of print]

PMID:
26807988
3.

RNAseq analysis for the diagnosis of muscular dystrophy.

Gonorazky H, Liang M, Cummings B, Lek M, Micallef J, Hawkins C, Basran R, Cohn R, Wilson MD, MacArthur D, Marshall CR, Ray PN, Dowling JJ.

Ann Clin Transl Neurol. 2015 Dec 8;3(1):55-60. doi: 10.1002/acn3.267. eCollection 2016 Jan.

4.

Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders.

Wojtal D, Kemaladewi DU, Malam Z, Abdullah S, Wong TW, Hyatt E, Baghestani Z, Pereira S, Stavropoulos J, Mouly V, Mamchaoui K, Muntoni F, Voit T, Gonorazky HD, Dowling JJ, Wilson MD, Mendoza-Londono R, Ivakine EA, Cohn RD.

Am J Hum Genet. 2016 Jan 7;98(1):90-101. doi: 10.1016/j.ajhg.2015.11.012. Epub 2015 Dec 10.

PMID:
26686765
5.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

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, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF.

J Clin Invest. 2015 Jan;125(1):456-7. doi: 10.1172/JCI80057. Epub 2015 Jan 2. No abstract available.

6.

X-linked myopathy with excessive autophagy: a failure of self-eating.

Dowling JJ, Moore SA, Kalimo H, Minassian BA.

Acta Neuropathol. 2015 Mar;129(3):383-90. doi: 10.1007/s00401-015-1393-4. Epub 2015 Feb 3. Review.

PMID:
25644398
7.

Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome.

Burns R, Majczenko K, Xu J, Peng W, Yapici Z, Dowling JJ, Li JZ, Burmeister M.

Neurology. 2014 Dec 2;83(23):2175-82. doi: 10.1212/WNL.0000000000001053. Epub 2014 Oct 31.

8.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

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, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF.

J Clin Invest. 2014 Nov;124(11):4693-708. doi: 10.1172/JCI75199. Epub 2014 Sep 24. Erratum in: J Clin Invest. 2015 Jan;125(1):456-7.

9.

Triadopathies: an emerging class of skeletal muscle diseases.

Dowling JJ, Lawlor MW, Dirksen RT.

Neurotherapeutics. 2014 Oct;11(4):773-85. doi: 10.1007/s13311-014-0300-3. Review.

10.

Fluoxetine prevents dystrophic changes in a zebrafish model of Duchenne muscular dystrophy.

Waugh TA, Horstick E, Hur J, Jackson SW, Davidson AE, Li X, Dowling JJ.

Hum Mol Genet. 2014 Sep 1;23(17):4651-62. doi: 10.1093/hmg/ddu185. Epub 2014 Apr 23.

11.

Conditional knockout of pik3c3 causes a murine muscular dystrophy.

Reifler A, Li X, Archambeau AJ, McDade JR, Sabha N, Michele DE, Dowling JJ.

Am J Pathol. 2014 Jun;184(6):1819-30. doi: 10.1016/j.ajpath.2014.02.012. Epub 2014 Apr 13.

12.

Membrane-myofibril cross-talk in myofibrillogenesis and in muscular dystrophy pathogenesis: lessons from the zebrafish.

Raeker MÖ, Shavit JA, Dowling JJ, Michele DE, Russell MW.

Front Physiol. 2014 Jan 28;5:14. doi: 10.3389/fphys.2014.00014. eCollection 2014.

13.

Approach to the diagnosis of congenital myopathies.

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; International Standard of Care Committee for Congenital Myopathies.

Neuromuscul Disord. 2014 Feb;24(2):97-116. doi: 10.1016/j.nmd.2013.11.003. Epub 2013 Nov 18.

14.

Analysis of embryonic and larval zebrafish skeletal myofibers from dissociated preparations.

Horstick EJ, Gibbs EM, Li X, Davidson AE, Dowling JJ.

J Vis Exp. 2013 Nov 13;(81):e50259. doi: 10.3791/50259.

15.

Impaired embryonic motility in dusp27 mutants reveals a developmental defect in myofibril structure.

Fero K, Bergeron SA, Horstick EJ, Codore H, Li GH, Ono F, Dowling JJ, Burgess HA.

Dis Model Mech. 2014 Feb;7(2):289-98. doi: 10.1242/dmm.013235. Epub 2013 Nov 7.

16.

The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish.

Gibbs EM, Davidson AE, Telfer WR, Feldman EL, Dowling JJ.

Dis Model Mech. 2014 Jan;7(1):157-61. doi: 10.1242/dmm.012286. Epub 2013 Oct 17.

17.

Transcriptional changes and developmental abnormalities in a zebrafish model of myotonic dystrophy type 1.

Todd PK, Ackall FY, Hur J, Sharma K, Paulson HL, Dowling JJ.

Dis Model Mech. 2014 Jan;7(1):143-55. doi: 10.1242/dmm.012427. Epub 2013 Oct 2.

18.

Murine Fig4 is dispensable for muscle development but required for muscle function.

Reifler A, Lenk GM, Li X, Groom L, Brooks SV, Wilson D, Bowerson M, Dirksen RT, Meisler MH, Dowling JJ.

Skelet Muscle. 2013 Sep 1;3(1):21. doi: 10.1186/2044-5040-3-21.

19.

Titin and centronuclear myopathy: The tip of the iceberg for TTN-ic mutations?

Dowling JJ.

Neurology. 2013 Oct 1;81(14):1189-90. doi: 10.1212/WNL.0b013e3182a6cc43. Epub 2013 Aug 23. No abstract available.

PMID:
23975873
20.

Genotype-phenotype correlations in recessive RYR1-related myopathies.

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.

Orphanet J Rare Dis. 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117.

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