Magen D - Search Results

1

Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

Magen D, Ofir A, Berger L, Goldsher D, Eran A, Katib N, Nijem Y, Vlodavsky E, Tzur S, Behar DM, Fellig Y, Mandel H. Magen D, et al. Hum Genet. 2015 Mar;134(3):315. doi: 10.1007/s00439-015-1530-0. Hum Genet. 2015. PMID: 25609191 No abstract available.

2

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.

Magen D, Georgopoulos C, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, Heno B, Gershoni-Baruch R, Skorecki K, Mandel H. Magen D, et al. Am J Hum Genet. 2008 Jul;83(1):30-42. doi: 10.1016/j.ajhg.2008.05.016. Epub 2008 Jun 19. Am J Hum Genet. 2008. PMID: 18571143 Free PMC article.

3

A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability.

Falik-Zaccai TC, Khayat M, Luder A, Frenkel P, Magen D, Brik R, Gershoni-Baruch R, Mandel H. Falik-Zaccai TC, et al. Among authors: magen d. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):46-56. doi: 10.1002/ajmg.b.30945. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19308961

4

A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.

Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, Selig S, Lapointe JY, Zelikovic I, Skorecki K. Magen D, et al. N Engl J Med. 2010 Mar 25;362(12):1102-9. doi: 10.1056/NEJMoa0905647. N Engl J Med. 2010. PMID: 20335586 Free article.

5

Gitelman's syndrome: a pathophysiological and clinical update.

Nakhoul F, Nakhoul N, Dorman E, Berger L, Skorecki K, Magen D. Nakhoul F, et al. Among authors: magen d. Endocrine. 2012 Feb;41(1):53-7. doi: 10.1007/s12020-011-9556-0. Epub 2011 Nov 15. Endocrine. 2012. PMID: 22169961 Review.

6

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

Magen D, Ofir A, Berger L, Goldsher D, Eran A, Katib N, Nijem Y, Vlodavsky E, Tzur S, Behar DM, Fellig Y, Mandel H. Magen D, et al. Hum Genet. 2015 Mar;134(3):305-14. doi: 10.1007/s00439-014-1522-5. Epub 2015 Jan 6. Hum Genet. 2015. PMID: 25560765

7

A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.

Gal M, Magen D, Zahran Y, Ravid S, Eran A, Khayat M, Gafni C, Levanon EY, Mandel H. Gal M, et al. Among authors: magen d. Eur J Med Genet. 2016 Apr;59(4):204-9. doi: 10.1016/j.ejmg.2016.02.007. Epub 2016 Feb 23. Eur J Med Genet. 2016. PMID: 26923739

8

APOL1-Mediated Cell Injury Involves Disruption of Conserved Trafficking Processes.

Kruzel-Davila E, Shemer R, Ofir A, Bavli-Kertselli I, Darlyuk-Saadon I, Oren-Giladi P, Wasser WG, Magen D, Zaknoun E, Schuldiner M, Salzberg A, Kornitzer D, Marelja Z, Simons M, Skorecki K. Kruzel-Davila E, et al. Among authors: magen d. J Am Soc Nephrol. 2017 Apr;28(4):1117-1130. doi: 10.1681/ASN.2016050546. Epub 2016 Nov 18. J Am Soc Nephrol. 2017. PMID: 27864431 Free PMC article.

9

Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy.

Kurolap A, Eshach-Adiv O, Hershkovitz T, Paperna T, Mory A, Oz-Levi D, Zohar Y, Mandel H, Chezar J, Azoulay D, Peleg S, Half EE, Yahalom V, Finkel L, Weissbrod O, Geiger D, Tabib A, Shaoul R, Magen D, Bonstein L, Mevorach D, Baris HN. Kurolap A, et al. Among authors: magen d. N Engl J Med. 2017 Jul 6;377(1):87-89. doi: 10.1056/NEJMc1707173. Epub 2017 Jun 28. N Engl J Med. 2017. PMID: 28657861 No abstract available.

10

Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa-Associated Disease.

Demir K, Yildiz M, Bahat H, Goldman M, Hassan N, Tzur S, Ofir A, Magen D. Demir K, et al. Among authors: magen d. J Clin Endocrinol Metab. 2017 Dec 1;102(12):4604-4614. doi: 10.1210/jc.2017-01592. J Clin Endocrinol Metab. 2017. PMID: 29029121

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