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Page 1
Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.
Pode-Shakked B, Heimer G, Vilboux T, Marek-Yagel D, Ben-Zeev B, Davids M, Ferreira CR, Philosoph AM, Veber A, Pode-Shakked N, Kenet G, Soudack M, Hoffmann C, Vernitsky H, Safaniev M, Lodzki M, Lahad A, Shouval DS, Levinkopf D, Weiss B, Barg AA, Daka A, Amariglio N, Malicdan MCV, Gahl WA, Anikster Y. Pode-Shakked B, et al. Mol Genet Metab. 2019 Sep-Oct;128(1-2):151-161. doi: 10.1016/j.ymgme.2019.08.003. Epub 2019 Aug 14. Mol Genet Metab. 2019. PMID: 31445883 Free PMC article.
Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations.
Stephen J, Vilboux T, Haberman Y, Pri-Chen H, Pode-Shakked B, Mazaheri S, Marek-Yagel D, Barel O, Di Segni A, Eyal E, Hout-Siloni G, Lahad A, Shalem T, Rechavi G, Malicdan MC, Weiss B, Gahl WA, Anikster Y. Stephen J, et al. Eur J Hum Genet. 2016 Aug;24(9):1268-73. doi: 10.1038/ejhg.2016.5. Epub 2016 Feb 17. Eur J Hum Genet. 2016. PMID: 26883093 Free PMC article.
Glutaric Aciduria type I and acute renal failure - Coincidence or causality?
Pode-Shakked B, Marek-Yagel D, Rubinshtein M, Pessach IM, Paret G, Volkov A, Anikster Y, Lotan D. Pode-Shakked B, et al. Mol Genet Metab Rep. 2014 Apr 17;1:170-175. doi: 10.1016/j.ymgmr.2014.03.001. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896087 Free PMC article.
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Anikster Y, Haack TB, Vilboux T, Pode-Shakked B, Thöny B, Shen N, Guarani V, Meissner T, Mayatepek E, Trefz FK, Marek-Yagel D, Martinez A, Huttlin EL, Paulo JA, Berutti R, Benoist JF, Imbard A, Dorboz I, Heimer G, Landau Y, Ziv-Strasser L, Malicdan MCV, Gemperle-Britschgi C, Cremer K, Engels H, Meili D, Keller I, Bruggmann R, Strom TM, Meitinger T, Mullikin JC, Schwartz G, Ben-Zeev B, Gahl WA, Harper JW, Blau N, Hoffmann GF, Prokisch H, Opladen T, Schiff M. Anikster Y, et al. Am J Hum Genet. 2017 Feb 2;100(2):257-266. doi: 10.1016/j.ajhg.2017.01.002. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132689 Free PMC article.
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.
Malicdan MCV, Vilboux T, Ben-Zeev B, Guo J, Eliyahu A, Pode-Shakked B, Dori A, Kakani S, Chandrasekharappa SC, Ferreira CR, Shelestovich N, Marek-Yagel D, Pri-Chen H, Blatt I, Niederhuber JE, He L, Toro C, Taylor RW, Deeken J, Yardeni T, Wallace DC, Gahl WA, Anikster Y. Malicdan MCV, et al. Hum Mutat. 2018 Jan;39(1):69-79. doi: 10.1002/humu.23345. Epub 2017 Nov 8. Hum Mutat. 2018. PMID: 29044765 Free PMC article.
Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequencing offer a solution?
Steg Saban O, Pode-Shakked B, Abu-Libdeh B, Granot M, Barkai G, Haberman Y, Roterman I, Lahad A, Shouval DS, Weiss B, Marek-Yagel D, Barel O, Loberman-Nachum N, Abraham S, Somech R, Weinstein DA, Anikster Y. Steg Saban O, et al. Among authors: marek yagel d. Eur J Med Genet. 2022 Jun;65(6):104518. doi: 10.1016/j.ejmg.2022.104518. Epub 2022 May 9. Eur J Med Genet. 2022. PMID: 35550444
42 results