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Items: 1 to 50 of 132

1.

Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Diseases Caused by TTC7A Deficiency.

Jardine S, Anderson S, Babcock S, Leung G, Pan J, Dhingani N, Warner N, Guo C, Siddiqui I, Kotlarz D, Dowling JJ, Melnyk R, Snapper SB, Klein C, Thiagarajah JR, Muise AM.

Gastroenterology. 2019 Nov 16. pii: S0016-5085(19)41574-6. doi: 10.1053/j.gastro.2019.11.019. [Epub ahead of print]

PMID:
31743734
2.

Insights into wild type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish.

Zhao M, Smith L, Volpatti J, Fabian L, Dowling JJ.

Hum Mol Genet. 2019 Nov 6. pii: ddz260. doi: 10.1093/hmg/ddz260. [Epub ahead of print]

PMID:
31691805
3.

Failure to identify modifiers of NEBULIN-related nemaline myopathy in two pre-clinical models of the disease.

Qiu B, Ruston J, Granzier H, Justice MJ, Dowling JJ.

Biol Open. 2019 Sep 18;8(9). pii: bio044867. doi: 10.1242/bio.044867.

4.

The expanding spectrum of neurological disorders of phosphoinositide metabolism.

Volpatti JR, Al-Maawali A, Smith L, Al-Hashim A, Brill JA, Dowling JJ.

Dis Model Mech. 2019 Aug 13;12(8). pii: dmm038174. doi: 10.1242/dmm.038174. Review.

5.

214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015.

Donkervoort S, Dowling JJ, Laporte J, MacArthur D, Bönnemann CG; 214th ENMC workshop participants.

Neuromuscul Disord. 2019 Aug;29(8):644-650. doi: 10.1016/j.nmd.2019.07.002. Epub 2019 Jul 13. No abstract available.

PMID:
31400830
6.

Mouse model of severe recessive RYR1-related myopathy.

Brennan S, Garcia-Castañeda M, Michelucci A, Sabha N, Malik S, Groom L, Wei LaPierre L, Dowling JJ, Dirksen RT.

Hum Mol Genet. 2019 Sep 15;28(18):3024-3036. doi: 10.1093/hmg/ddz105.

PMID:
31107960
7.

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH.

Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9.

PMID:
31079897
8.

Signs and Symptoms in Congenital Myopathies.

Gonorazky HD, Dowling JJ, Volpatti JR, Vajsar J.

Semin Pediatr Neurol. 2019 Apr;29:3-11. doi: 10.1016/j.spen.2019.01.002. Epub 2019 Jan 16.

PMID:
31060723
9.

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ.

Am J Hum Genet. 2019 May 2;104(5):1007. doi: 10.1016/j.ajhg.2019.04.004. No abstract available.

10.

Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G.

Lee AJ, Jones KA, Butterfield RJ, Cox MO, Konersman CG, Grosmann C, Abdenur JE, Boyer M, Beson B, Wang C, Dowling JJ, Gibbons MA, Ballard A, Janas JS, Leshner RT, Donkervoort S, Bönnemann CG, Malicki DM, Weiss RB, Moore SA, Mathews KD.

Neurol Genet. 2019 Mar 1;5(2):e315. doi: 10.1212/NXG.0000000000000315. eCollection 2019 Apr.

11.

X-linked myotubular myopathy: A prospective international natural history study.

Annoussamy M, Lilien C, Gidaro T, Gargaun E, Chê V, Schara U, Gangfuß A, D'Amico A, Dowling JJ, Darras BT, Daron A, Hernandez A, de Lattre C, Arnal JM, Mayer M, Cuisset JM, Vuillerot C, Fontaine S, Bellance R, Biancalana V, Buj-Bello A, Hogrel JY, Landy H, Servais L.

Neurology. 2019 Apr 16;92(16):e1852-e1867. doi: 10.1212/WNL.0000000000007319. Epub 2019 Mar 22.

PMID:
30902907
12.

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ.

Am J Hum Genet. 2019 Mar 7;104(3):466-483. doi: 10.1016/j.ajhg.2019.01.012. Epub 2019 Feb 28. Erratum in: Am J Hum Genet. 2019 May 2;104(5):1007.

13.

Tamoxifen therapy in a murine model of myotubular myopathy.

Maani N, Sabha N, Rezai K, Ramani A, Groom L, Eltayeb N, Mavandadnejad F, Pang A, Russo G, Brudno M, Haucke V, Dirksen RT, Dowling JJ.

Nat Commun. 2018 Nov 19;9(1):4849. doi: 10.1038/s41467-018-07057-5.

14.

Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease.

Zhao M, Maani N, Dowling JJ.

Neurotherapeutics. 2018 Oct;15(4):966-975. doi: 10.1007/s13311-018-00686-0. Review.

15.

X-Linked Myotubular Myopathy.

Dowling JJ, Lawlor MW, Das S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2002 Feb 25 [updated 2018 Aug 23].

16.

An integrated modelling methodology for estimating the prevalence of centronuclear myopathy.

Vandersmissen I, Biancalana V, Servais L, Dowling JJ, Vander Stichele G, Van Rooijen S, Thielemans L.

Neuromuscul Disord. 2018 Sep;28(9):766-777. doi: 10.1016/j.nmd.2018.06.012. Epub 2018 Jul 1. Review.

PMID:
30122513
17.

Uniparental disomy unveils a novel recessive mutation in POMT2.

Brun BN, Willer T, Darbro BW, Gonorazky HD, Naumenko S, Dowling JJ, Campbell KP, Moore SA, Mathews KD.

Neuromuscul Disord. 2018 Jul;28(7):592-596. doi: 10.1016/j.nmd.2018.04.003. Epub 2018 Apr 10.

18.

Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.

Todd JJ, Razaqyar MS, Witherspoon JW, Lawal TA, Mankodi A, Chrismer IC, Allen C, Meyer MD, Kuo A, Shelton MS, Amburgey K, Niyazov D, Fequiere P, Bönnemann CG, Dowling JJ, Meilleur KG.

Front Neurol. 2018 Mar 5;9:118. doi: 10.3389/fneur.2018.00118. eCollection 2018.

19.

The genetics of congenital myopathies.

Gonorazky HD, Bönnemann CG, Dowling JJ.

Handb Clin Neurol. 2018;148:549-564. doi: 10.1016/B978-0-444-64076-5.00036-3. Review.

PMID:
29478600
20.

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D.

J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2. Review.

21.

Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology.

Zabinyakov N, Bullivant G, Cao F, Fernandez Ojeda M, Jia ZP, Wen XY, Dowling JJ, Salomons GS, Mercimek-Andrews S.

PLoS One. 2017 Oct 20;12(10):e0186645. doi: 10.1371/journal.pone.0186645. eCollection 2017.

22.

Malignant Hyperthermia Susceptibility and Related Diseases.

Litman RS, Griggs SM, Dowling JJ, Riazi S.

Anesthesiology. 2018 Jan;128(1):159-167. doi: 10.1097/ALN.0000000000001877. Review. No abstract available.

PMID:
28902673
23.

Treating pediatric neuromuscular disorders: The future is now.

Dowling JJ, D Gonorazky H, Cohn RD, Campbell C.

Am J Med Genet A. 2018 Apr;176(4):804-841. doi: 10.1002/ajmg.a.38418. Epub 2017 Sep 10. Review.

24.

A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy.

Al-Hashim A, Gonorazky HD, Amburgey K, Das S, Dowling JJ.

Neurol Genet. 2017 Aug 24;3(5):e182. doi: 10.1212/NXG.0000000000000182. eCollection 2017 Oct. No abstract available.

25.

A natural history study of X-linked myotubular myopathy.

Amburgey K, Tsuchiya E, de Chastonay S, Glueck M, Alverez R, Nguyen CT, Rutkowski A, Hornyak J, Beggs AH, Dowling JJ.

Neurology. 2017 Sep 26;89(13):1355-1364. doi: 10.1212/WNL.0000000000004415. Epub 2017 Aug 25.

26.

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR.

Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3.

27.

Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy.

Gonorazky HD, Amburgey K, Yoon G, Vajsar J, Widjaja E, Dowling JJ.

Muscle Nerve. 2017 Nov;56(5):E41-E44. doi: 10.1002/mus.25737. Epub 2017 Jul 18. No abstract available.

PMID:
28667691
28.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG.

Sci Transl Med. 2017 Apr 19;9(386). pii: eaal5209. doi: 10.1126/scitranslmed.aal5209.

29.

Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review.

Kraeva N, Sapa A, Dowling JJ, Riazi S.

Can J Anaesth. 2017 Jul;64(7):736-743. doi: 10.1007/s12630-017-0865-5. Epub 2017 Mar 21. Review.

PMID:
28326467
30.

A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy.

Smith SJ, Wang JC, Gupta VA, Dowling JJ.

PLoS One. 2017 Feb 27;12(2):e0172648. doi: 10.1371/journal.pone.0172648. eCollection 2017.

31.

Eteplirsen therapy for Duchenne muscular dystrophy: skipping to the front of the line.

Dowling JJ.

Nat Rev Neurol. 2016 Dec;12(12):675-676. doi: 10.1038/nrneurol.2016.180. Epub 2016 Nov 18. No abstract available.

PMID:
27857122
32.

"The Certified Duchenne Care Center Program".

Kinnett K, Dowling JJ, Mendell JR.

Neuromuscul Disord. 2016 Dec;26(12):853-859. doi: 10.1016/j.nmd.2016.09.007. Epub 2016 Sep 19.

PMID:
27856129
33.

PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models.

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.

J Clin Invest. 2016 Sep 1;126(9):3613-25. doi: 10.1172/JCI86841. Epub 2016 Aug 22.

34.

217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29-31 January 2016.

Jungbluth H, Dowling JJ, Ferreiro A, Muntoni F; RYR1 Myopathy Consortium.

Neuromuscul Disord. 2016 Sep;26(9):624-33. doi: 10.1016/j.nmd.2016.06.001. Epub 2016 Jun 7. No abstract available.

PMID:
27377473
35.

Restrictions on the Importation of Zebrafish into Canada Associated with Spring Viremia of Carp Virus.

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, McFarlane S, Huang P, Wen XY, Akimenko MA, Waskiewicz AJ, Drapeau P, Babiuk LA, Dragon D, Smida A, Buret AG, O'Grady E, Wilson J, Sowden-Plunkett L, Robertson JV, Tropepe V.

Zebrafish. 2016 Jul;13 Suppl 1:S153-63. doi: 10.1089/zeb.2016.1286. Epub 2016 Jun 1. Erratum in: Zebrafish. 2016 Dec;13(6):596.

PMID:
27248438
36.

Patient-Controlled Analgesia Plus Background Opioid Infusion for Postoperative Pain in Children: A Systematic Review and Meta-Analysis of Randomized Trials.

Hayes J, Dowling JJ, Peliowski A, Crawford MW, Johnston B.

Anesth Analg. 2016 Oct;123(4):991-1003. doi: 10.1213/ANE.0000000000001244. Review.

PMID:
27065359
37.

Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study.

Bamaga AK, Riazi S, Amburgey K, Ong S, Halliday W, Diamandis P, Guerguerian AM, Dowling JJ, Yoon G.

Neuromuscul Disord. 2016 Mar;26(3):201-6. doi: 10.1016/j.nmd.2016.02.007. Epub 2016 Feb 23.

PMID:
26951757
38.

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 Feb;75(2):102-10. Review. Erratum in: J Neuropathol Exp Neurol. 2016 May;75(5):479.

39.

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 May;89:36-45. doi: 10.1016/j.nbd.2016.01.018. Epub 2016 Jan 22.

40.

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.

41.

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.

42.

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.

43.

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
44.

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.

45.

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.

46.

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.

47.

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.

48.

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.

49.

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.

50.

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.

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