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Items: 1 to 50 of 372

1.

Clinical indications for image guided interventional procedures in the musculoskeletal system: a Delphi-based consensus paper from the European Society of Musculoskeletal Radiology (ESSR)-part III, nerves of the upper limb.

Sconfienza LM, Adriaensen M, Albano D, Allen G, Aparisi Gómez MP, Bazzocchi A, Beggs I, Bignotti B, Chianca V, Corazza A, Dalili D, De Dea M, Del Cura JL, Di Pietto F, Drakonaki E, Facal de Castro F, Filippiadis D, Gielen J, Gitto S, Gupta H, Klauser AS, Lalam R, Martin S, Martinoli C, Mauri G, McCarthy C, McNally E, Melaki K, Messina C, Mirón Mombiela R, Neubauer B, Obradov M, Olchowy C, Orlandi D, Gonzalez RP, Rutkauskas S, Snoj Z, Tagliafico AS, Talaska A, Vasilevska-Nikodinovska V, Vucetic J, Wilson D, Zaottini F, Zappia M, Plagou A; Ultrasound and Interventional Subcommittees of the European Society of Musculoskeletal Radiology (ESSR).

Eur Radiol. 2019 Nov 11. doi: 10.1007/s00330-019-06479-z. [Epub ahead of print]

PMID:
31712960
2.

A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping.

Demonbreun AR, Wyatt EJ, Fallon KS, Oosterbaan CC, Page PG, Hadhazy M, Quattrocelli M, Barefield DY, McNally EM.

Dis Model Mech. 2019 Nov 4;13(2). pii: dmm040832. doi: 10.1242/dmm.040832.

3.

Better living through peptide-conjugated chemistry: next-generation antisense oligonucleotides.

McNally EM, Leverson BD.

J Clin Invest. 2019 Nov 1;129(11):4570-4571. doi: 10.1172/JCI131933.

4.

At the heart of genetic disease: an interview with Elizabeth McNally.

McNally E.

Dis Model Mech. 2019 Sep 18;13(2). pii: dmm041566. doi: 10.1242/dmm.041566.

PMID:
31548216
5.

Recombinant annexin A6 promotes membrane repair and protects against muscle injury.

Demonbreun AR, Fallon KS, Oosterbaan CC, Bogdanovic E, Warner JL, Sell JJ, Page PG, Quattrocelli M, Barefield DY, McNally EM.

J Clin Invest. 2019 Nov 1;129(11):4657-4670. doi: 10.1172/JCI128840.

6.

Clinical indications for image-guided interventional procedures in the musculoskeletal system: a Delphi-based consensus paper from the European Society of Musculoskeletal Radiology (ESSR)-part I, shoulder.

Sconfienza LM, Adriaensen M, Albano D, Allen G, Aparisi Gómez MP, Bazzocchi A, Beggs I, Bignotti B, Chianca V, Corazza A, Dalili D, De Dea M, Del Cura JL, Di Pietto F, Drakonaki E, Facal de Castro F, Filippiadis D, Gielen J, Gitto S, Gupta H, Klauser AS, Lalam R, Martin S, Martinoli C, Mauri G, McCarthy C, McNally E, Melaki K, Messina C, Mirón Mombiela R, Neubauer B, Olchowy C, Orlandi D, Plagou A, Prada Gonzalez R, Rutkauskas S, Snoj Z, Tagliafico AS, Talaska A, Vasilevska-Nikodinovska V, Vucetic J, Wilson D, Zaottini F, Zappia M, Obradov M.

Eur Radiol. 2019 Sep 16. doi: 10.1007/s00330-019-06419-x. [Epub ahead of print]

PMID:
31529252
7.

Predicting Arrhythmia Risk in Dilated Cardiomyopathy Using Genetic Mutation Status.

McNally EM, Amaral AP.

J Am Coll Cardiol. 2019 Sep 17;74(11):1491-1493. doi: 10.1016/j.jacc.2019.07.034. No abstract available.

PMID:
31514952
8.

Spp1 (osteopontin) promotes TGFβ processing in fibroblasts of dystrophin deficient muscles through matrix metalloproteinases.

Kramerova I, Kumagai-Cresse C, Ermolova N, Mokhonova E, Marinov M, Capote J, Becerra D, Quattrocelli M, Crosbie RH, Welch E, McNally EM, Spencer MJ.

Hum Mol Genet. 2019 Aug 14. pii: ddz181. doi: 10.1093/hmg/ddz181. [Epub ahead of print]

PMID:
31411676
9.

Risk Prediction Model in Children With Hypertrophic Cardiomyopathy: A Work in Progress.

Bonow RO, McNally EM.

JAMA Cardiol. 2019 Aug 14. doi: 10.1001/jamacardio.2019.2945. [Epub ahead of print] No abstract available.

PMID:
31411634
10.

Long telomeres and cancer risk: the price of cellular immortality.

McNally EJ, Luncsford PJ, Armanios M.

J Clin Invest. 2019 Aug 5;130:3474-3481. doi: 10.1172/JCI120851. eCollection 2019 Aug 5. Review.

11.

Genetic Counselors' Approach To Postmortem Genetic Testing After Sudden Death: An Exploratory Study.

Liu G, MacLeod H, Webster G, McNally EM, O'Neill SM, Dellefave-Castillo L.

Acad Forensic Pathol. 2018 Sep;8(3):738-751. doi: 10.1177/1925362118797748. Epub 2018 Aug 31.

12.

Establishment of Specialized Clinical Cardiovascular Genetics Programs: Recognizing the Need and Meeting Standards: A Scientific Statement From the American Heart Association.

Ahmad F, McNally EM, Ackerman MJ, Baty LC, Day SM, Kullo IJ, Madueme PC, Maron MS, Martinez MW, Salberg L, Taylor MR, Wilcox JE.

Circ Genom Precis Med. 2019 Jun;12(6):e000054. doi: 10.1161/HCG.0000000000000054. Epub 2019 May 23.

PMID:
31117808
13.

Deletion of Sulfonylurea Receptor 2 in the Adult Myocardium Enhances Cardiac Glucose Uptake and Is Cardioprotective.

Aubert G, Barefield DY, Demonbreun AR, Ramratnam M, Fallon KS, Warner JL, Rossi AE, Hadhazy M, Makielski JC, McNally EM.

JACC Basic Transl Sci. 2019 Apr 29;4(2):251-268. doi: 10.1016/j.jacbts.2018.11.012. eCollection 2019 Apr.

14.

Moderate exercise improves function and increases adiponectin in the mdx mouse model of muscular dystrophy.

Zelikovich AS, Quattrocelli M, Salamone IM, Kuntz NL, McNally EM.

Sci Rep. 2019 Apr 8;9(1):5770. doi: 10.1038/s41598-019-42203-z.

15.

Genetic Spectrum of Arrhythmogenic Cardiomyopathy.

Gacita AM, McNally EM.

Circ Heart Fail. 2019 Mar;12(3):e005850. doi: 10.1161/CIRCHEARTFAILURE.119.005850. No abstract available.

PMID:
30871346
16.

Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes.

Kim EY, Barefield DY, Vo AH, Gacita AM, Schuster EJ, Wyatt EJ, Davis JL, Dong B, Sun C, Page P, Dellefave-Castillo L, Demonbreun A, Zhang HF, McNally EM.

JCI Insight. 2019 Mar 21;4(6). pii: 122686. doi: 10.1172/jci.insight.122686. eCollection 2019 Mar 21.

17.

Relationship Between Laryngeal Sensation, Length of Intubation, and Aspiration in Patients with Acute Respiratory Failure.

Borders JC, Fink D, Levitt JE, McKeehan J, McNally E, Rubio A, Scheel R, Siner JM, Taborda SG, Vojnik R, Warner H, White SD, Langmore SE, Moss M, Krisciunas GP.

Dysphagia. 2019 Aug;34(4):521-528. doi: 10.1007/s00455-019-09980-1. Epub 2019 Jan 29.

PMID:
30694412
18.

Modeling Human Dilated Cardiomyopathy Using Humans.

Gacita AM, Puckelwartz MJ, McNally EM.

JACC Basic Transl Sci. 2018 Dec 31;3(6):741-743. doi: 10.1016/j.jacbts.2018.11.005. eCollection 2018 Dec. No abstract available.

19.

The intralumenal fragment pathway mediates ESCRT-independent surface transporter down-regulation.

McNally EK, Brett CL.

Nat Commun. 2018 Dec 18;9(1):5358. doi: 10.1038/s41467-018-07734-5.

20.

New DEStiny Revealed.

Aubert G, Ajroud-Driss S, Knight BP, Shah SJ, McNally EM.

Circulation. 2018 Sep 18;138(12):1267-1271. doi: 10.1161/CIRCULATIONAHA.118.035577. No abstract available.

21.

Dusp6 is a genetic modifier of growth through enhanced ERK activity.

Vo AH, Swaggart KA, Woo A, Gao QQ, Demonbreun AR, Fallon KS, Quattrocelli M, Hadhazy M, Page PGT, Chen Z, Eskin A, Squire K, Nelson SF, McNally EM.

Hum Mol Genet. 2019 Jan 15;28(2):279-289. doi: 10.1093/hmg/ddy349.

PMID:
30289454
22.

Prelamin A causes aberrant myonuclear arrangement and results in muscle fiber weakness.

Levy Y, Ross JA, Niglas M, Snetkov VA, Lynham S, Liao CY, Puckelwartz MJ, Hsu YM, McNally EM, Alsheimer M, Harridge SD, Young SG, Fong LG, Español Y, Lopez-Otin C, Kennedy BK, Lowe DA, Ochala J.

JCI Insight. 2018 Oct 4;3(19). pii: 120920. doi: 10.1172/jci.insight.120920.

23.

Cardiac Management of the Patient With Duchenne Muscular Dystrophy.

Buddhe S, Cripe L, Friedland-Little J, Kertesz N, Eghtesady P, Finder J, Hor K, Judge DP, Kinnett K, McNally EM, Raman S, Thompson WR, Wagner KR, Olson AK.

Pediatrics. 2018 Oct;142(Suppl 2):S72-S81. doi: 10.1542/peds.2018-0333I. Review.

24.

Colonoscopic-Guided Pinch Biopsies in Mice as a Useful Model for Evaluating the Roles of Host and Luminal Factors in Colonic Inflammation.

Montrose DC, Zhou XK, McNally EM, Sue E, Wang H, Nishiguchi R, Verma A, Elemento O, Simpson KW, Yang P, Hla T, Dannenberg AJ.

Am J Pathol. 2018 Dec;188(12):2811-2825. doi: 10.1016/j.ajpath.2018.08.016. Epub 2018 Sep 28.

PMID:
30273600
25.

Rab-Effector-Kinase Interplay Modulates Intralumenal Fragment Formation during Vacuole Fusion.

Karim MA, McNally EK, Samyn DR, Mattie S, Brett CL.

Dev Cell. 2018 Oct 8;47(1):80-97.e6. doi: 10.1016/j.devcel.2018.09.002. Epub 2018 Sep 27.

26.

Myocarditis in Duchenne Muscular Dystrophy After Changing Steroids.

Abutaleb ARA, McNally EM, Khan SS, Anderson AS, Carr JC, Wilcox JE.

JAMA Cardiol. 2018 Oct 1;3(10):1006-1010. doi: 10.1001/jamacardio.2018.2695.

27.

Impaired Cytomegalovirus Immunity in Idiopathic Pulmonary Fibrosis Lung Transplant Recipients with Short Telomeres.

Popescu I, Mannem H, Winters SA, Hoji A, Silveira F, McNally E, Pipeling MR, Lendermon EA, Morrell MR, Pilewski JM, Hanumanthu VS, Zhang Y, Gulati S, Shah PD, Iasella CJ, Ensor CR, Armanios M, McDyer JF.

Am J Respir Crit Care Med. 2019 Feb 1;199(3):362-376. doi: 10.1164/rccm.201805-0825OC.

PMID:
30088779
28.

Is Heart Failure Inherited?: Beyond the Cardiomyopathies, Genetics Do Matter.

O'Donnell CJ, Yancy CW, McNally EM.

JAMA Cardiol. 2018 Aug 1;3(8):710-711. doi: 10.1001/jamacardio.2018.1918. No abstract available.

PMID:
29998295
29.

Transgenic overexpression of the SUR2A-55 splice variant in mouse heart reduces infract size and promotes protective mitochondrial function.

Ramratnam M, Kenny B, Kyle JW, Wiedmeyer B, Hacker TA, Barefield DY, McNally EM, Makielski JC.

Heliyon. 2018 Jul 4;4(7):e00677. doi: 10.1016/j.heliyon.2018.e00677. eCollection 2018 Jul.

30.

A promoter interaction map for cardiovascular disease genetics.

Montefiori LE, Sobreira DR, Sakabe NJ, Aneas I, Joslin AC, Hansen GT, Bozek G, Moskowitz IP, McNally EM, Nóbrega MA.

Elife. 2018 Jul 10;7. pii: e35788. doi: 10.7554/eLife.35788.

31.

Clinical indications for musculoskeletal ultrasound updated in 2017 by European Society of Musculoskeletal Radiology (ESSR) consensus.

Sconfienza LM, Albano D, Allen G, Bazzocchi A, Bignotti B, Chianca V, Facal de Castro F, Drakonaki EE, Gallardo E, Gielen J, Klauser AS, Martinoli C, Mauri G, McNally E, Messina C, Mirón Mombiela R, Orlandi D, Plagou A, Posadzy M, de la Puente R, Reijnierse M, Rossi F, Rutkauskas S, Snoj Z, Vucetic J, Wilson D, Tagliafico AS.

Eur Radiol. 2018 Dec;28(12):5338-5351. doi: 10.1007/s00330-018-5474-3. Epub 2018 Jun 6. Review.

PMID:
29876703
32.

Nerve Entrapment in Ankle and Foot: Ultrasound Imaging.

Chari B, McNally E.

Semin Musculoskelet Radiol. 2018 Jul;22(3):354-363. doi: 10.1055/s-0038-1648252. Epub 2018 May 23. Review.

PMID:
29791963
33.

Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers.

Wyatt EJ, Demonbreun AR, Kim EY, Puckelwartz MJ, Vo AH, Dellefave-Castillo LM, Gao QQ, Vainzof M, Pavanello RCM, Zatz M, McNally EM.

JCI Insight. 2018 May 3;3(9). pii: 99357. doi: 10.1172/jci.insight.99357.

34.

Pediatric Hypertrophy Cardiomyopathy-Another Case Where Children Are Not Small Adults.

McNally EM.

JAMA Cardiol. 2018 Jun 1;3(6):526. doi: 10.1001/jamacardio.2018.0819. No abstract available.

PMID:
29710297
35.

Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3Δ25bpIntronic Deletion in South Asian Descendants.

Viswanathan SK, Puckelwartz MJ, Mehta A, Ramachandra CJA, Jagadeesan A, Fritsche-Danielson R, Bhat RV, Wong P, Kandoi S, Schwanekamp JA, Kuffel G, Pesce LL, Zilliox MJ, Durai UNB, Verma RS, Molokie RE, Suresh DP, Khoury PR, Thomas A, Sanagala T, Tang HC, Becker RC, Knöll R, Shim W, McNally EM, Sadayappan S.

JAMA Cardiol. 2018 Jun 1;3(6):481-488. doi: 10.1001/jamacardio.2018.0618.

36.

Oral Care Clinical Trial to Reduce Non-Intensive Care Unit, Hospital-Acquired Pneumonia: Lessons for Future Research.

McNally E, Krisciunas GP, Langmore SE, Crimlisk JT, Pisegna JM, Massaro J.

J Healthc Qual. 2019 Jan/Feb;41(1):1-9. doi: 10.1097/JHQ.0000000000000131.

PMID:
29634593
37.

Gene Editing and Gene-Based Therapeutics for Cardiomyopathies.

Ohiri JC, McNally EM.

Heart Fail Clin. 2018 Apr;14(2):179-188. doi: 10.1016/j.hfc.2017.12.006. Review.

38.

Reducing Racial/Ethnic Disparities in Cardiovascular Genetic Testing.

Dellefave-Castillo LM, Puckelwartz MJ, McNally EM.

JAMA Cardiol. 2018 Apr 1;3(4):277-279. doi: 10.1001/jamacardio.2017.5382. No abstract available.

PMID:
29490332
39.

Non-Glycanated Biglycan and LTBP4: Leveraging the extracellular matrix for Duchenne Muscular Dystrophy therapeutics.

Fallon JR, McNally EM.

Matrix Biol. 2018 Aug;68-69:616-627. doi: 10.1016/j.matbio.2018.02.016. Epub 2018 Feb 23. Review.

40.

226th ENMC International Workshop:: Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20-22 January 2017, Heemskerk, The Netherlands.

Aartsma-Rus A, Ferlini A, McNally EM, Spitali P, Sweeney HL; workshop participants.

Neuromuscul Disord. 2018 Jan;28(1):77-86. doi: 10.1016/j.nmd.2017.10.002. Epub 2017 Oct 26. No abstract available.

41.

MicroRNAs promote skeletal muscle differentiation of mesodermal iPSC-derived progenitors.

Giacomazzi G, Holvoet B, Trenson S, Caluwé E, Kravic B, Grosemans H, Cortés-Calabuig Á, Deroose CM, Huylebroeck D, Hashemolhosseini S, Janssens S, McNally E, Quattrocelli M, Sampaolesi M.

Nat Commun. 2017 Nov 1;8(1):1249. doi: 10.1038/s41467-017-01359-w.

42.

Genetic modifiers of muscular dystrophy act on sarcolemmal resealing and recovery from injury.

Quattrocelli M, Capote J, Ohiri JC, Warner JL, Vo AH, Earley JU, Hadhazy M, Demonbreun AR, Spencer MJ, McNally EM.

PLoS Genet. 2017 Oct 24;13(10):e1007070. doi: 10.1371/journal.pgen.1007070. eCollection 2017 Oct.

43.

Hypertrophic Cardiomyopathy Gene Testing: Go Big?

Puckelwartz MJ, McNally EM.

Circ Cardiovasc Genet. 2017 Oct;10(5). pii: e001951. doi: 10.1161/CIRCGENETICS.117.001951. No abstract available.

44.

Gene Editing for the Heart: Correcting Dystrophin Mutations.

McNally EM.

Circ Res. 2017 Sep 29;121(8):896-898. doi: 10.1161/CIRCRESAHA.117.311865. No abstract available.

45.

Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.

McNally EM, Mestroni L.

Circ Res. 2017 Sep 15;121(7):731-748. doi: 10.1161/CIRCRESAHA.116.309396. Review.

46.

Mutation-Based Therapy for Duchenne Muscular Dystrophy: Antisense Treatment Arrives in the Clinic.

McNally EM, Wyatt EJ.

Circulation. 2017 Sep 12;136(11):979-981. doi: 10.1161/CIRCULATIONAHA.117.028382. No abstract available.

47.

Intermittent Glucocorticoid Dosing Improves Muscle Repair and Function in Mice with Limb-Girdle Muscular Dystrophy.

Quattrocelli M, Salamone IM, Page PG, Warner JL, Demonbreun AR, McNally EM.

Am J Pathol. 2017 Nov;187(11):2520-2535. doi: 10.1016/j.ajpath.2017.07.017. Epub 2017 Aug 18.

48.

Incorporating Genetic Testing Into Cardiovascular Practice.

McNally EM.

JAMA Cardiol. 2017 Oct 1;2(10):1151-1152. doi: 10.1001/jamacardio.2017.2626. No abstract available.

PMID:
28793158
49.

Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy.

Barefield DY, Puckelwartz MJ, Kim EY, Wilsbacher LD, Vo AH, Waters EA, Earley JU, Hadhazy M, Dellefave-Castillo L, Pesce LL, McNally EM.

Circulation. 2017 Oct 17;136(16):1477-1491. doi: 10.1161/CIRCULATIONAHA.117.028585. Epub 2017 Aug 4.

50.

Arrhythmogenic Right Ventricular Cardiomyopathy.

McNally E, MacLeod H, Dellefave-Castillo L.

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.
2005 Apr 18 [updated 2017 May 25].

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