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Items: 1 to 50 of 70

1.

Intracranial extra-skeletal mesenchymal chondrosarcoma: Case report and review of literature of reported cases in adults and children.

Shabani S, Kaushal M, Kaufman B, Knipstein J, Lawlor MW, Lew S, Foy A.

World Neurosurg. 2019 May 31. pii: S1878-8750(19)31498-6. doi: 10.1016/j.wneu.2019.05.221. [Epub ahead of print]

PMID:
31158544
2.

NOD-like receptor protein 3 inflammasome drives postoperative mechanical pain in a sex-dependent manner.

Cowie AM, Menzel AD, O'Hara C, Lawlor MW, Stucky CL.

Pain. 2019 Mar 8. doi: 10.1097/j.pain.0000000000001555. [Epub ahead of print]

PMID:
30870320
3.

Maintaining extraembryonic expression allows generation of mice with severe tissue factor pathway inhibitor deficiency.

Castillo MM, Yang Q, Zhan M, Pan AY, Lawlor MW, Mast AE, Sood R.

Blood Adv. 2019 Feb 12;3(3):489-498. doi: 10.1182/bloodadvances.2018018853.

4.

Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy.

Helbling DC, Mendoza D, McCarrier J, Vanden Avond MA, Harmelink MM, Barkhaus PE, Basel D, Lawlor MW.

J Neuropathol Exp Neurol. 2019 Mar 1;78(3):283-287. doi: 10.1093/jnen/nlz004.

PMID:
30715496
5.

Ganglioglioma in a Survivor of Infantile Glioblastoma.

Scheuermann A, Belongia M, Lawlor MW, Suchi M, Kaufman B, Vasudevaraja V, Serrano J, Snuderl M, Knipstein J.

J Pediatr Hematol Oncol. 2019 Jan 22. doi: 10.1097/MPH.0000000000001417. [Epub ahead of print]

PMID:
30676438
6.

Myostatin Inhibition Using ActRIIB-mFc Does Not Produce Weight Gain or Strength in the Nebulin Conditional KO Mouse.

Tinklenberg JA, Siebers EM, Beatka MJ, Fickau BA, Ayres S, Meng H, Yang L, Simpson P, Granzier HL, Lawlor MW.

J Neuropathol Exp Neurol. 2019 Feb 1;78(2):130-139. doi: 10.1093/jnen/nly120.

PMID:
30597051
7.

Pathological Issues in Dystrophinopathy in the Age of Genetic Therapies.

Shahnoor N, Siebers EM, Brown KJ, Lawlor MW.

Annu Rev Pathol. 2019 Jan 24;14:105-126. doi: 10.1146/annurev-pathmechdis-012418-012945. Epub 2018 Aug 27.

PMID:
30148687
8.

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].

9.

Use Of Ankle Immobilization In Evaluating Treatments To Promote Longitudinal Muscle Growth In Mice.

Tinklenberg J, Beatka M, Bain JLW, Siebers EM, Meng H, Pearsall RS, Lawlor MW, Riley DA.

Muscle Nerve. 2018 Nov;58(5):718-725. doi: 10.1002/mus.26296. Epub 2018 Oct 2.

PMID:
29981243
10.

TNNT1 nemaline myopathy: natural history and therapeutic frontier.

Fox MD, Carson VJ, Feng HZ, Lawlor MW, Gray JT, Brigatti KW, Jin JP, Strauss KA.

Hum Mol Genet. 2018 Sep 15;27(18):3272-3282. doi: 10.1093/hmg/ddy233.

PMID:
29931346
11.

Sdha+/- Rats Display Minimal Muscle Pathology Without Significant Behavioral or Biochemical Abnormalities.

Siebers EM, Choi MJ, Tinklenberg JA, Beatka MJ, Ayres S, Meng H, Helbling DC, Takizawa A, Bennett B, Garces AM, Dias Duarte Machado LG, Dimmock D, Dwinell MR, Geurts AM, Lawlor MW.

J Neuropathol Exp Neurol. 2018 Aug 1;77(8):665-672. doi: 10.1093/jnen/nly042.

PMID:
29850869
12.

NINDS Common Data Elements for Congenital Muscular Dystrophy Clinical Research: A National Institute for Neurological Disorders and Stroke Project.

Lawlor MW, Iannaccone ST, Mathews K, Muntoni F, Alai-Hansen S, Odenkirchen JC, S Feldman R; CMD Working Group.

J Neuromuscul Dis. 2018;5(1):75-84. doi: 10.3233/JND-170248.

PMID:
29480213
13.

Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice.

Danièle N, Moal C, Julien L, Marinello M, Jamet T, Martin S, Vignaud A, Lawlor MW, Buj-Bello A.

J Neuropathol Exp Neurol. 2018 Apr 1;77(4):282-295. doi: 10.1093/jnen/nly002.

14.

Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice.

Tinklenberg JA, Siebers EM, Beatka MJ, Meng H, Yang L, Zhang Z, Ross JA, Ochala J, Morris C, Owens JM, Laing NG, Nowak KJ, Lawlor MW.

Hum Mol Genet. 2018 Feb 15;27(4):638-648. doi: 10.1093/hmg/ddx431.

15.

Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.

Konersman CG, Freyermuth F, Winder TL, Lawlor MW, Lagier-Tourenne C, Patel SB.

Mol Genet Genomic Med. 2017 Nov;5(6):678-691. doi: 10.1002/mgg3.325. Epub 2017 Aug 21.

16.

Diaphragm Atrophy and Weakness in the Absence of Mitochondrial Dysfunction in the Critically Ill.

van den Berg M, Hooijman PE, Beishuizen A, de Waard MC, Paul MA, Hartemink KJ, van Hees HWH, Lawlor MW, Brocca L, Bottinelli R, Pellegrino MA, Stienen GJM, Heunks LMA, Wüst RCI, Ottenheijm CAC.

Am J Respir Crit Care Med. 2017 Dec 15;196(12):1544-1558. doi: 10.1164/rccm.201703-0501OC.

17.

Host interleukin 6 production regulates inflammation but not tryptophan metabolism in the brain during murine GVHD.

Belle L, Zhou V, Stuhr KL, Beatka M, Siebers EM, Knight JM, Lawlor MW, Weaver C, Hashizume M, Hillard CJ, Drobyski WR.

JCI Insight. 2017 Jul 20;2(14). pii: 93726. doi: 10.1172/jci.insight.93726. eCollection 2017 Jul 20.

18.

Long-term effects of systemic gene therapy in a canine model of myotubular myopathy.

Elverman M, Goddard MA, Mack D, Snyder JM, Lawlor MW, Meng H, Beggs AH, Buj-Bello A, Poulard K, Marsh AP, Grange RW, Kelly VE, Childers MK.

Muscle Nerve. 2017 Nov;56(5):943-953. doi: 10.1002/mus.25658. Epub 2017 May 22.

19.

Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs.

Mack DL, Poulard K, Goddard MA, Latournerie V, Snyder JM, Grange RW, Elverman MR, Denard J, Veron P, Buscara L, Le Bec C, Hogrel JY, Brezovec AG, Meng H, Yang L, Liu F, O'Callaghan M, Gopal N, Kelly VE, Smith BK, Strande JL, Mavilio F, Beggs AH, Mingozzi F, Lawlor MW, Buj-Bello A, Childers MK.

Mol Ther. 2017 Apr 5;25(4):839-854. doi: 10.1016/j.ymthe.2017.02.004. Epub 2017 Feb 22.

20.

Macrocyclic MEK1/2 inhibitor with efficacy in a mouse model of cardiomyopathy caused by lamin A/C gene mutation.

Wu W, Chordia MD, Hart BP, Kumarasinghe ES, Ji MK, Bhargava A, Lawlor MW, Shin JY, Sera F, Homma S, Muchir A, Khire UR, Worman HJ.

Bioorg Med Chem. 2017 Feb 1;25(3):1004-1013. doi: 10.1016/j.bmc.2016.12.014. Epub 2016 Dec 9.

21.

Phosphatidylinositol 3-kinase inhibition restores Ca2+ release defects and prolongs survival in myotubularin-deficient mice.

Kutchukian C, Lo Scrudato M, Tourneur Y, Poulard K, Vignaud A, Berthier C, Allard B, Lawlor MW, Buj-Bello A, Jacquemond V.

Proc Natl Acad Sci U S A. 2016 Dec 13;113(50):14432-14437. Epub 2016 Nov 28.

22.

Presentation and Diagnostic Evaluation of Mitochondrial Disease.

Dimmock DP, Lawlor MW.

Pediatr Clin North Am. 2017 Feb;64(1):161-171. doi: 10.1016/j.pcl.2016.08.011. Review.

23.

CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies.

Alexander MS, Rozkalne A, Colletta A, Spinazzola JM, Johnson S, Rahimov F, Meng H, Lawlor MW, Estrella E, Kunkel LM, Gussoni E.

Cell Stem Cell. 2016 Dec 1;19(6):800-807. doi: 10.1016/j.stem.2016.08.006. Epub 2016 Sep 15.

24.

In Reply.

Lawlor MW.

Arch Pathol Lab Med. 2016 Sep;140(9):879. doi: 10.5858/arpa.2016-0140-LE. No abstract available.

PMID:
27575262
25.

Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy.

Tinklenberg J, Meng H, Yang L, Liu F, Hoffmann RG, Dasgupta M, Allen KP, Beggs AH, Hardeman EC, Pearsall RS, Fitts RH, Lawlor MW.

Am J Pathol. 2016 Jun;186(6):1568-81. doi: 10.1016/j.ajpath.2016.02.008. Epub 2016 Apr 18.

26.

Mechanosensory and ATP Release Deficits following Keratin14-Cre-Mediated TRPA1 Deletion Despite Absence of TRPA1 in Murine Keratinocytes.

Zappia KJ, Garrison SR, Palygin O, Weyer AD, Barabas ME, Lawlor MW, Staruschenko A, Stucky CL.

PLoS One. 2016 Mar 15;11(3):e0151602. doi: 10.1371/journal.pone.0151602. eCollection 2016.

27.

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.

28.

Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome.

Bennett B, Helbling D, Meng H, Jarzembowski J, Geurts AM, Friederich MW, Van Hove JLK, Lawlor MW, Dimmock DP.

Free Radic Biol Med. 2016 Mar;92:141-151. doi: 10.1016/j.freeradbiomed.2016.01.001. Epub 2016 Jan 8.

29.

Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy.

Goddard MA, Mack DL, Czerniecki SM, Kelly VE, Snyder JM, Grange RW, Lawlor MW, Smith BK, Beggs AH, Childers MK.

Ann Transl Med. 2015 Oct;3(18):262. doi: 10.3978/j.issn.2305-5839.2015.10.31. Erratum in: Ann Transl Med. 2016 Jan;4(1):23.

30.

Common Data Elements for Muscle Biopsy Reporting.

Dastgir J, Rutkowski A, Alvarez R, Cossette SA, Yan K, Hoffmann RG, Sewry C, Hayashi YK, Goebel HH, Bonnemann C, Lawlor MW.

Arch Pathol Lab Med. 2016 Jan;140(1):51-65. doi: 10.5858/arpa.2014-0453-OA. Epub 2015 Jul 1.

31.

Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy.

Li F, Buck D, De Winter J, Kolb J, Meng H, Birch C, Slater R, Escobar YN, Smith JE 3rd, Yang L, Konhilas J, Lawlor MW, Ottenheijm C, Granzier HL.

Hum Mol Genet. 2015 Sep 15;24(18):5219-33. doi: 10.1093/hmg/ddv243. Epub 2015 Jun 29.

32.

Diaphragm muscle fiber weakness and ubiquitin-proteasome activation in critically ill patients.

Hooijman PE, Beishuizen A, Witt CC, de Waard MC, Girbes AR, Spoelstra-de Man AM, Niessen HW, Manders E, van Hees HW, van den Brom CE, Silderhuis V, Lawlor MW, Labeit S, Stienen GJ, Hartemink KJ, Paul MA, Heunks LM, Ottenheijm CA.

Am J Respir Crit Care Med. 2015 May 15;191(10):1126-38. doi: 10.1164/rccm.201412-2214OC.

33.

BAG3 myofibrillar myopathy presenting with cardiomyopathy.

Konersman CG, Bordini BJ, Scharer G, Lawlor MW, Zangwill S, Southern JF, Amos L, Geddes GC, Kliegman R, Collins MP.

Neuromuscul Disord. 2015 May;25(5):418-22. doi: 10.1016/j.nmd.2015.01.009. Epub 2015 Feb 4.

PMID:
25728519
34.

Isolation and immortalization of patient-derived cell lines from muscle biopsy for disease modeling.

Robin JD, Wright WE, Zou Y, Cossette SC, Lawlor MW, Gussoni E.

J Vis Exp. 2015 Jan 18;(95):52307. doi: 10.3791/52307.

35.

Whole-thorax irradiation induces hypoxic respiratory failure, pleural effusions and cardiac remodeling.

Medhora M, Gao F, Glisch C, Narayanan J, Sharma A, Harmann LM, Lawlor MW, Snyder LA, Fish BL, Down JD, Moulder JE, Strande JL, Jacobs ER.

J Radiat Res. 2015 Mar;56(2):248-60. doi: 10.1093/jrr/rru095. Epub 2014 Nov 3.

36.

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.

37.

Tissue triage and freezing for models of skeletal muscle disease.

Meng H, Janssen PM, Grange RW, Yang L, Beggs AH, Swanson LC, Cossette SA, Frase A, Childers MK, Granzier H, Gussoni E, Lawlor MW.

J Vis Exp. 2014 Jul 15;(89). doi: 10.3791/51586.

38.

Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice.

Lawlor MW, Viola MG, Meng H, Edelstein RV, Liu F, Yan K, Luna EJ, Lerch-Gaggl A, Hoffmann RG, Pierson CR, Buj-Bello A, Lachey JL, Pearsall S, Yang L, Hillard CJ, Beggs AH.

Am J Pathol. 2014 Jun;184(6):1831-42. doi: 10.1016/j.ajpath.2014.03.003. Epub 2014 Apr 13.

39.

Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy.

Childers MK, Joubert R, Poulard K, Moal C, Grange RW, Doering JA, Lawlor MW, Rider BE, Jamet T, Danièle N, Martin S, Rivière C, Soker T, Hammer C, Van Wittenberghe L, Lockard M, Guan X, Goddard M, Mitchell E, Barber J, Williams JK, Mack DL, Furth ME, Vignaud A, Masurier C, Mavilio F, Moullier P, Beggs AH, Buj-Bello A.

Sci Transl Med. 2014 Jan 22;6(220):220ra10. doi: 10.1126/scitranslmed.3007523.

40.

Dystrophin-deficient cardiomyocytes derived from human urine: new biologic reagents for drug discovery.

Guan X, Mack DL, Moreno CM, Strande JL, Mathieu J, Shi Y, Markert CD, Wang Z, Liu G, Lawlor MW, Moorefield EC, Jones TN, Fugate JA, Furth ME, Murry CE, Ruohola-Baker H, Zhang Y, Santana LF, Childers MK.

Stem Cell Res. 2014 Mar;12(2):467-80. doi: 10.1016/j.scr.2013.12.004. Epub 2013 Dec 23.

41.

G-protein coupled receptor 56 promotes myoblast fusion through serum response factor- and nuclear factor of activated T-cell-mediated signalling but is not essential for muscle development in vivo.

Wu MP, Doyle JR, Barry B, Beauvais A, Rozkalne A, Piao X, Lawlor MW, Kopin AS, Walsh CA, Gussoni E.

FEBS J. 2013 Dec;280(23):6097-113. doi: 10.1111/febs.12529. Epub 2013 Oct 8.

42.

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH.

Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23.

43.

Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.

Ottenheijm CA, Buck D, de Winter JM, Ferrara C, Piroddi N, Tesi C, Jasper JR, Malik FI, Meng H, Stienen GJ, Beggs AH, Labeit S, Poggesi C, Lawlor MW, Granzier H.

Brain. 2013 Jun;136(Pt 6):1718-31. doi: 10.1093/brain/awt113. Epub 2013 May 28.

44.

Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations.

de Winter JM, Buck D, Hidalgo C, Jasper JR, Malik FI, Clarke NF, Stienen GJ, Lawlor MW, Beggs AH, Ottenheijm CA, Granzier H.

J Med Genet. 2013 Jun;50(6):383-92. doi: 10.1136/jmedgenet-2012-101470. Epub 2013 Apr 9.

45.

Selenoprotein N deficiency in mice is associated with abnormal lung development.

Moghadaszadeh B, Rider BE, Lawlor MW, Childers MK, Grange RW, Gupta K, Boukedes SS, Owen CA, Beggs AH.

FASEB J. 2013 Apr;27(4):1585-99. doi: 10.1096/fj.12-212688. Epub 2013 Jan 16.

46.

Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.

Lawlor MW, Armstrong D, Viola MG, Widrick JJ, Meng H, Grange RW, Childers MK, Hsu CP, O'Callaghan M, Pierson CR, Buj-Bello A, Beggs AH.

Hum Mol Genet. 2013 Apr 15;22(8):1525-38. doi: 10.1093/hmg/ddt003. Epub 2013 Jan 9.

47.

Large duplication in MTM1 associated with myotubular myopathy.

Amburgey K, Lawlor MW, Del Gaudio D, Cheng YW, Fitzpatrick C, Minor A, Li X, Aughton D, Das S, Beggs AH, Dowling JJ.

Neuromuscul Disord. 2013 Mar;23(3):214-8. doi: 10.1016/j.nmd.2012.11.010. Epub 2012 Dec 28.

48.

Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.

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.

Am J Pathol. 2012 Sep;181(3):961-8. doi: 10.1016/j.ajpath.2012.05.016. Epub 2012 Jul 27.

49.

Oxygen gas-filled microparticles provide intravenous oxygen delivery.

Kheir JN, Scharp LA, Borden MA, Swanson EJ, Loxley A, Reese JH, Black KJ, Velazquez LA, Thomson LM, Walsh BK, Mullen KE, Graham DA, Lawlor MW, Brugnara C, Bell DC, McGowan FX Jr.

Sci Transl Med. 2012 Jun 27;4(140):140ra88. doi: 10.1126/scitranslmed.3003679.

50.

Thermoresponsive nanogels for prolonged duration local anesthesia.

Hoare T, Young S, Lawlor MW, Kohane DS.

Acta Biomater. 2012 Oct;8(10):3596-605. doi: 10.1016/j.actbio.2012.06.013. Epub 2012 Jun 23.

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