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Items: 25

1.

Dominant collagen XII mutations cause a distal myopathy.

Mohassel P, Liewluck T, Hu Y, Ezzo D, Ogata T, Saade D, Neuhaus S, Bolduc V, Zou Y, Donkervoort S, Medne L, Sumner CJ, Dyck PJB, Wierenga KJ, Tennekoon G, Finkel RS, Chen J, Winder TL, Staff NP, Foley AR, Koch M, Bönnemann CG.

Ann Clin Transl Neurol. 2019 Oct;6(10):1980-1988. doi: 10.1002/acn3.50882. Epub 2019 Sep 11.

2.

Utility of neuromuscular ultrasound for electromyographic needle localization within diseased muscle.

Ahmad OF, Saade D, Foley AR, Bönnemann C, Lehky T.

Muscle Nerve. 2019 Dec;60(6):E38-E40. doi: 10.1002/mus.26698. Epub 2019 Sep 30. No abstract available.

PMID:
31498902
3.

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.

Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE; Care4Rare Canada Consortium, Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE.

Acta Neuropathol. 2019 Dec;138(6):1013-1031. doi: 10.1007/s00401-019-02059-z. Epub 2019 Aug 29.

4.

Willingness-to-pay and Time Trade-off: The Burden of Disease in Patients with Benign Hyperpigmentation.

Maymone MBC, Rajanala S, Widjajahakim R, Secemsky E, Saade D, Vashi NA.

J Clin Aesthet Dermatol. 2019 May;12(5):46-48. Epub 2019 May 1.

5.

An ultrafast system for signaling mechanical pain in human skin.

Nagi SS, Marshall AG, Makdani A, Jarocka E, Liljencrantz J, Ridderström M, Shaikh S, O'Neill F, Saade D, Donkervoort S, Foley AR, Minde J, Trulsson M, Cole J, Bönnemann CG, Chesler AT, Bushnell MC, McGlone F, Olausson H.

Sci Adv. 2019 Jul 3;5(7):eaaw1297. doi: 10.1126/sciadv.aaw1297. eCollection 2019 Jul.

6.

The Use of Muscle Ultrasound in the Diagnosis and Differential Diagnosis of Congenital Disorders of Muscle in the Age of Next Generation Genetics.

Saade DN, Neuhaus SB, Foley AR, Bönnemann CG.

Semin Pediatr Neurol. 2019 Apr;29:44-54. doi: 10.1016/j.spen.2019.01.001. Epub 2019 Jan 16.

PMID:
31060725
7.

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.

Estañ MC, Fernández-Núñez E, Zaki MS, Esteban MI, Donkervoort S, Hawkins C, Caparros-Martin JA, Saade D, Hu Y, Bolduc V, Chao KR, Nevado J, Lamuedra A, Largo R, Herrero-Beaumont G, Regadera J, Hernandez-Chico C, Tizzano EF, Martinez-Glez V, Carvajal JJ, Zong R, Nelson DL, Otaify GA, Temtamy S, Aglan M, Issa M, Bönnemann CG, Lapunzina P, Yoon G, Ruiz-Perez VL.

Nat Commun. 2019 Feb 15;10(1):797. doi: 10.1038/s41467-019-08548-9.

8.

Successful sclerotherapy and psoriasis: A discussion of koebnerization, report of two cases, and review of the literature.

Saade DS, Vashi NA.

J Cosmet Dermatol. 2018 Dec 7. doi: 10.1111/jocd.12843. [Epub ahead of print] No abstract available.

PMID:
30537077
9.

PIEZO2 mediates injury-induced tactile pain in mice and humans.

Szczot M, Liljencrantz J, Ghitani N, Barik A, Lam R, Thompson JH, Bharucha-Goebel D, Saade D, Necaise A, Donkervoort S, Foley AR, Gordon T, Case L, Bushnell MC, Bönnemann CG, Chesler AT.

Sci Transl Med. 2018 Oct 10;10(462). pii: eaat9892. doi: 10.1126/scitranslmed.aat9892.

10.

Treatment of purpura with Nd:YAG laser in skin types IV-VI.

Saade DS, Vashi NA.

J Am Acad Dermatol. 2019 Apr;80(4):e73-e74. doi: 10.1016/j.jaad.2018.09.003. Epub 2018 Sep 15. No abstract available.

PMID:
30227196
11.

The ethics of the cosmetic consult: Performing procedures on the body dysmorphic patient.

Saade DS, de Castro Maymone MB, Vashi NA.

Int J Womens Dermatol. 2018 Jun 6;4(3):185-187. doi: 10.1016/j.ijwd.2018.04.002. eCollection 2018 Sep. No abstract available.

12.

Patterns of Over-the-counter Lightening Agent Use among Patients with Hyperpigmentation Disorders: A United States-based Cohort Study.

Saade DS, Maymone MBC, Secemsky EA, Kennedy KF, Vashi NA.

J Clin Aesthet Dermatol. 2018 Jul;11(7):26-30. Epub 2018 Jul 1.

13.

A case series of orf infection after the religious sacrifice feast Eid al-Adha.

Saade D, Higham C, Vashi N.

JAAD Case Rep. 2018 May 7;4(5):489-492. doi: 10.1016/j.jdcr.2018.01.007. eCollection 2018 Jun. No abstract available.

14.

Assessing the safety of superficial chemical peels in darker skin: A retrospective study.

Vemula S, Maymone MBC, Secemsky EA, Widjajahakim R, Patzelt NM, Saade D, Vashi NA.

J Am Acad Dermatol. 2018 Sep;79(3):508-513.e2. doi: 10.1016/j.jaad.2018.02.064. Epub 2018 Mar 5.

PMID:
29518457
15.

Colors Beyond the Visible.

Saade D, Maymone MBC, Vashi NA.

JAMA Dermatol. 2018 Feb 1;154(2):166. doi: 10.1001/jamadermatol.2017.4990. No abstract available.

PMID:
29450554
16.

SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.

Rebelo AP, Saade D, Pereira CV, Farooq A, Huff TC, Abreu L, Moraes CT, Mnatsakanova D, Mathews K, Yang H, Schon EA, Zuchner S, Shy ME.

Brain. 2018 Mar 1;141(3):662-672. doi: 10.1093/brain/awx369. Erratum in: Brain. 2018 Apr 1;141(4):e32.

17.

The Most Beautiful People: Evolving Standards of Beauty.

Maymone MBC, Neamah HH, Secemsky EA, Kundu RV, Saade D, Vashi NA.

JAMA Dermatol. 2017 Dec 1;153(12):1327-1329. doi: 10.1001/jamadermatol.2017.3693. No abstract available.

18.

Congenital duodenocolic fistula in a dog.

Lecoindre A, Saade D, Barthez P, Cadoré JL, Lecoindre P.

J Small Anim Pract. 2018 May;59(5):311-314. doi: 10.1111/jsap.12677. Epub 2017 Apr 3.

PMID:
28369893
19.

Surveillance of antimicrobial resistance in Lebanese hospitals: retrospective nationwide compiled data.

Chamoun K, Farah M, Araj G, Daoud Z, Moghnieh R, Salameh P, Saade D, Mokhbat J, Abboud E, Hamze M, Abboud E, Jisr T, Haddad A, Feghali R, Azar N, El-Zaatari M, Chedid M, Haddad C, Zouain Dib Nehme M, Barakat A, Husni R; Lebanese Society of Infectious Diseases Study Group (LSID study group).

Int J Infect Dis. 2016 May;46:64-70. doi: 10.1016/j.ijid.2016.03.010. Epub 2016 Mar 17.

20.

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

Jensen BS, Willer T, Saade DN, Cox MO, Mozaffar T, Scavina M, Stefans VA, Winder TL, Campbell KP, Moore SA, Mathews KD.

Hum Mutat. 2015 Dec;36(12):1159-63. doi: 10.1002/humu.22898. Epub 2015 Sep 23.

21.

Pure cannabidiol in the treatment of malignant migrating partial seizures in infancy: a case report.

Saade D, Joshi C.

Pediatr Neurol. 2015 May;52(5):544-7. doi: 10.1016/j.pediatrneurol.2015.02.008. Epub 2015 Feb 19.

PMID:
25882081
22.

Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011.

Al Hosani H, Salah M, Osman HM, Farag HM, El-Assiouty L, Saade D, Hertecant J.

East Mediterr Health J. 2014 Feb 11;20(1):17-23.

23.

The National Congenital Anomalies Register in the United Arab Emirates.

Al Hosani H, Salah M, Abu-Zeid H, Farag HM, Saade D.

East Mediterr Health J. 2005 Jul;11(4):690-9.

24.

United Arab Emirates National Newborn Screening Programme: an evaluation 1998-2000.

al-Hosani H, Salah M, Saade D, Osman H, al-Zahid J.

East Mediterr Health J. 2003 May;9(3):324-32.

25.

Prevalence of iodine deficiency disorders in the United Arab Emirates measured by raised TSH levels.

Al-Hosani H, Osman H, Abdel Wareth L, Saade D, Salah M.

East Mediterr Health J. 2003 Jan-Mar;9(1-2):123-30.

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