Muhammad E - Search Results

1

PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction.

Muhammad E, Levitas A, Singh SR, Braiman A, Ofir R, Etzion S, Sheffield VC, Etzion Y, Carrier L, Parvari R. Muhammad E, et al. Hum Mol Genet. 2015 Dec 20;24(25):7227-40. doi: 10.1093/hmg/ddv423. Epub 2015 Oct 12. Hum Mol Genet. 2015. PMID: 26464484 Free PMC article.

2

Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.

Levitas A, Muhammad E, Harel G, Saada A, Caspi VC, Manor E, Beck JC, Sheffield V, Parvari R. Levitas A, et al. Among authors: muhammad e. Eur J Hum Genet. 2010 Oct;18(10):1160-5. doi: 10.1038/ejhg.2010.83. Epub 2010 Jun 16. Eur J Hum Genet. 2010. PMID: 20551992 Free PMC article.

3

Congenital myopathy is caused by mutation of HACD1.

Muhammad E, Reish O, Ohno Y, Scheetz T, Deluca A, Searby C, Regev M, Benyamini L, Fellig Y, Kihara A, Sheffield VC, Parvari R. Muhammad E, et al. Hum Mol Genet. 2013 Dec 20;22(25):5229-36. doi: 10.1093/hmg/ddt380. Epub 2013 Aug 9. Hum Mol Genet. 2013. PMID: 23933735 Free PMC article.

4

D117N in Cypher/ZASP may not be a causative mutation for dilated cardiomyopathy and ventricular arrhythmias.

Levitas A, Konstantino Y, Muhammad E, Afawi Z, Marc Weinstein J, Amit G, Etzion Y, Parvari R. Levitas A, et al. Among authors: muhammad e. Eur J Hum Genet. 2016 May;24(5):666-71. doi: 10.1038/ejhg.2015.195. Epub 2015 Sep 30. Eur J Hum Genet. 2016. PMID: 26419279 Free PMC article.

5

A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy.

Levitas A, Muhammad E, Zhang Y, Perea Gil I, Serrano R, Diaz N, Arafat M, Gavidia AA, Kapiloff MS, Mercola M, Etzion Y, Parvari R, Karakikes I. Levitas A, et al. Among authors: muhammad e. PLoS Genet. 2020 Sep 14;16(9):e1009000. doi: 10.1371/journal.pgen.1009000. eCollection 2020 Sep. PLoS Genet. 2020. PMID: 32925938 Free PMC article.

6

Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.

Muhammad E, Leventhal N, Parvari G, Hanukoglu A, Hanukoglu I, Chalifa-Caspi V, Feinstein Y, Weinbrand J, Jacoby H, Manor E, Nagar T, Beck JC, Sheffield VC, Hershkovitz E, Parvari R. Muhammad E, et al. Hum Genet. 2011 Apr;129(4):397-405. doi: 10.1007/s00439-010-0930-4. Epub 2010 Dec 24. Hum Genet. 2011. PMID: 21184099

7

Essential role of carbonic anhydrase XII in secretory gland fluid and HCO3 (-) secretion revealed by disease causing human mutation.

Hong JH, Muhammad E, Zheng C, Hershkovitz E, Alkrinawi S, Loewenthal N, Parvari R, Muallem S. Hong JH, et al. Among authors: muhammad e. J Physiol. 2015 Dec 15;593(24):5299-312. doi: 10.1113/JP271378. Epub 2015 Dec 7. J Physiol. 2015. PMID: 26486891 Free PMC article.

8

Novel mutation in coagulation factor VII (Carmel mutation): Identification and characterization.

Cassel A, Rosenberg N, Muhammad E, Livnat T, Dardik R, Berl M, Preis M. Cassel A, et al. Among authors: muhammad e. Res Pract Thromb Haemost. 2021 Feb 25;5(4):e12407. doi: 10.1002/rth2.12407. eCollection 2021 May. Res Pract Thromb Haemost. 2021. PMID: 34027285 Free PMC article.

9

Specific antibody response of patients with common variable immunodeficiency to BNT162b2 coronavirus disease 2019 vaccination.

Abo-Helo N, Muhammad E, Ghaben-Amara S, Panasoff J, Cohen S. Abo-Helo N, et al. Among authors: muhammad e. Ann Allergy Asthma Immunol. 2021 Oct;127(4):501-503. doi: 10.1016/j.anai.2021.07.021. Epub 2021 Jul 31. Ann Allergy Asthma Immunol. 2021. PMID: 34343675 Free PMC article. No abstract available.

10

Specific antibody response of 14 patients with common variable immunodeficiency to 3 BNT162b2 messenger RNA coronavirus disease 2019 vaccinations.

Abo-Helo N, Muhammad E, Ghaben-Amara S, Cohen S. Abo-Helo N, et al. Among authors: muhammad e. Ann Allergy Asthma Immunol. 2022 Jul;129(1):108-109. doi: 10.1016/j.anai.2022.03.035. Epub 2022 Apr 6. Ann Allergy Asthma Immunol. 2022. PMID: 35398265 Free PMC article. No abstract available.

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