Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 27

1.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG.

Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241.

PMID:
29691892
2.

Movement disorders in mitochondrial disease.

Ghaoui R, Sue CM.

J Neurol. 2018 May;265(5):1230-1240. doi: 10.1007/s00415-017-8722-6. Epub 2018 Jan 6. Review.

PMID:
29307008
3.

A Multicenter Evaluation of Adherence to 4 Major Elements of the Baveno Guidelines and Outcomes for Patients With Acute Variceal Hemorrhage.

Tapper EB, Friderici J, Borman ZA, Alexander J, Bonder A, Nuruzzaman N, Ramdass S, Ghaoui R.

J Clin Gastroenterol. 2018 Feb;52(2):172-177. doi: 10.1097/MCG.0000000000000820.

PMID:
28644316
4.

Autoantibody responses to nodal and paranodal antigens in chronic inflammatory neuropathies.

Mathey EK, Garg N, Park SB, Nguyen T, Baker S, Yuki N, Yiannikas C, Lin CS, Spies JM, Ghaoui R, Barnett MH, Vucic S, Pollard JD, Kiernan MC.

J Neuroimmunol. 2017 Aug 15;309:41-46. doi: 10.1016/j.jneuroim.2017.05.002. Epub 2017 May 13.

PMID:
28601286
5.

A 'limb-girdle muscular dystrophy' responsive to asthma therapy.

Mulroy E, Ghaoui R, Hutchinson D, Rodrigues M, Lek M, MacArthur DG, Cooper ST, Clarke NF, Roxburgh R.

Pract Neurol. 2017 Aug;17(4):327-331. doi: 10.1136/practneurol-2017-001598. Epub 2017 Apr 22. No abstract available.

PMID:
28433973
6.

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.

7.

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

Punetha J, Kesari A, Uapinyoying P, Giri M, Clarke NF, Waddell LB, North KN, Ghaoui R, O'Grady GL, Oates EC, Sandaradura SA, Bönnemann CG, Donkervoort S, Plotz PH, Smith EC, Tesi-Rocha C, Bertorini TE, Tarnopolsky MA, Reitter B, Hausmanowa-Petrusewicz I, Hoffman EP.

J Neuromuscul Dis. 2016 May 27;3(2):209-225.

PMID:
27854218
8.

TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.

Ghaoui R, Benavides T, Lek M, Waddell LB, Kaur S, North KN, MacArthur DG, Clarke NF, Cooper ST.

Neuromuscul Disord. 2016 Aug;26(8):500-3. doi: 10.1016/j.nmd.2016.05.013. Epub 2016 May 24.

PMID:
27342937
9.

Open access colonoscopy: Critical appraisal of indications, quality metrics and outcomes.

Ghaoui R, Ramdass S, Friderici J, Desilets DJ.

Dig Liver Dis. 2016 Aug;48(8):940-4. doi: 10.1016/j.dld.2016.04.005. Epub 2016 Apr 16.

PMID:
27160698
10.

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.

O'Grady GL, Lek M, Lamande SR, Waddell L, Oates EC, Punetha J, Ghaoui R, Sandaradura SA, Best H, Kaur S, Davis M, Laing NG, Muntoni F, Hoffman E, MacArthur DG, Clarke NF, Cooper S, North K.

Ann Neurol. 2016 Jul;80(1):101-11. doi: 10.1002/ana.24687. Epub 2016 May 25.

PMID:
27159402
11.

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease.

O'Grady GL, Ma A, Sival D, Wong MT, Peduto T, Menezes MP, Young H, Waddell L, Ghaoui R, Needham M, Lek M, North KN, MacArthur DG, van Ravenswaaij-Arts CM, Clarke NF.

Eur J Hum Genet. 2016 Aug;24(8):1216-9. doi: 10.1038/ejhg.2015.276. Epub 2016 Jan 27.

12.

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

Ghaoui R, Palmio J, Brewer J, Lek M, Needham M, Evilä A, Hackman P, Jonson PH, Penttilä S, Vihola A, Huovinen S, Lindfors M, Davis RL, Waddell L, Kaur S, Yiannikas C, North K, Clarke N, MacArthur DG, Sue CM, Udd B.

Neurology. 2016 Jan 26;86(4):391-8. doi: 10.1212/WNL.0000000000002324. Epub 2015 Dec 30. Erratum in: Neurology. 2016 Mar 15;86(11):1077.

13.

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, Needham M, Liang C, Waddell LB, Nicholson G, O'Grady G, Kaur S, Ong R, Davis M, Sue CM, Laing NG, North KN, MacArthur DG, Clarke NF.

JAMA Neurol. 2015 Dec;72(12):1424-32. doi: 10.1001/jamaneurol.2015.2274.

PMID:
26436962
14.

Impact of geography on organ allocation: Beyond the distance to the transplantation center.

Ghaoui R, Garb J, Gordon F, Pomfret E.

World J Hepatol. 2015 Jul 8;7(13):1782-7. doi: 10.4254/wjh.v7.i13.1782.

15.

Expanding the phenotype of GMPPB mutations.

Cabrera-Serrano M, Ghaoui R, Ravenscroft G, Johnsen RD, Davis MR, Corbett A, Reddel S, Sue CM, Liang C, Waddell LB, Kaur S, Lek M, North KN, MacArthur DG, Lamont PJ, Clarke NF, Laing NG.

Brain. 2015 Apr;138(Pt 4):836-44. doi: 10.1093/brain/awv013. Epub 2015 Feb 12.

PMID:
25681410
16.

Outcomes associated with a mandatory gastroenterology consultation to improve the quality of care of patients hospitalized with decompensated cirrhosis.

Ghaoui R, Friderici J, Desilets DJ, Lagu T, Visintainer P, Belo A, Sotelo J, Lindenauer PK.

J Hosp Med. 2015 Apr;10(4):236-41. doi: 10.1002/jhm.2314. Epub 2014 Dec 30.

17.

Axonal excitability in primary amyloidotic neuropathy.

Hafner J, Ghaoui R, Coyle L, Burke D, Ng K.

Muscle Nerve. 2015 Mar;51(3):443-5. doi: 10.1002/mus.24508. Epub 2015 Jan 16.

PMID:
25381694
18.

Use of paracentesis in hospitalized patients with decompensated cirrhosis and ascites: opportunities for quality improvement.

Brooling J, Ghaoui R, Lindenauer PK, Friderici J, Lagu T.

J Hosp Med. 2014 Dec;9(12):797-9. doi: 10.1002/jhm.2275. Epub 2014 Oct 28. No abstract available.

19.

Liver cancer presenting as a pancreatic mass.

Ghaoui R, Gonzalez M, Desilets DJ.

Gastrointest Endosc. 2014 Feb;79(2):333-4. doi: 10.1016/j.gie.2013.10.016. Epub 2013 Nov 22. No abstract available.

PMID:
24268532
20.

Muscle disorders: the latest investigations.

Ghaoui R, Clarke N, Hollingworth P, Needham M.

Intern Med J. 2013 Sep;43(9):970-8. doi: 10.1111/imj.12234. Review.

PMID:
24004391
21.

Measurement of the quality of care of patients admitted with decompensated cirrhosis.

Ghaoui R, Friderici J, Visintainer P, Lindenauer PK, Lagu T, Desilets D.

Liver Int. 2014 Feb;34(2):204-10. doi: 10.1111/liv.12225. Epub 2013 Jun 14.

PMID:
23763303
22.

Porto-gastric fistula from penetration of coil from gastric varix after TIPS procedure for bleeding gastric varices.

Hussain S, Ghaoui R.

J Interv Gastroenterol. 2011 Jan;1(1):33. No abstract available.

23.

Russell body gastritis.

Habib C, Gang DL, Ghaoui R, Pantanowitz L.

Am J Hematol. 2010 Dec;85(12):951-2. doi: 10.1002/ajh.21702. No abstract available.

24.

Serological markers of autoimmunity in patients infected with hepatitis C virus: impact of HIV co-infection.

Adeyemi OM, Attar B, Jensen D, Ghaoui R, Cotler SJ.

HIV Med. 2005 Nov;6(6):371-4.

25.

Hepatitis C treatment eligibility in an urban population with and without HIV coinfection.

Adeyemi OM, Jensen D, Attar B, Ghaoui R, Gallagher M, Wolen D, Cotler SJ.

AIDS Patient Care STDS. 2004 Apr;18(4):239-45.

PMID:
15142354
26.

Optimisation of the comet genotoxicity assay in freshly isolated murine hepatocytes: detection of strong in vitro DNA damaging properties for styrene.

Fontaine FR, DeGraaf YC, Ghaoui R, Sallustio BC, Edwards J, Burcham PC.

Toxicol In Vitro. 2004 Jun;18(3):343-50.

PMID:
15046782
27.

UDP-glucuronosyltransferase-dependent bioactivation of clofibric acid to a DNA-damaging intermediate in mouse hepatocytes.

Ghaoui R, Sallustio BC, Burcham PC, Fontaine FR.

Chem Biol Interact. 2003 May 6;145(2):201-11.

PMID:
12686496

Supplemental Content

Loading ...
Support Center