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Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.
Barel O, Malicdan MCV, Ben-Zeev B, Kandel J, Pri-Chen H, Stephen J, Castro IG, Metz J, Atawa O, Moshkovitz S, Ganelin E, Barshack I, Polak-Charcon S, Nass D, Marek-Yagel D, Amariglio N, Shalva N, Vilboux T, Ferreira C, Pode-Shakked B, Heimer G, Hoffmann C, Yardeni T, Nissenkorn A, Avivi C, Eyal E, Kol N, Glick Saar E, Wallace DC, Gahl WA, Rechavi G, Schrader M, Eckmann DM, Anikster Y. Barel O, et al. Among authors: polak charcon s. Brain. 2017 Mar 1;140(3):568-581. doi: 10.1093/brain/awx002. Brain. 2017. PMID: 28364549 Free PMC article.
A congenital neutrophil defect syndrome associated with mutations in VPS45.
Vilboux T, Lev A, Malicdan MC, Simon AJ, Järvinen P, Racek T, Puchalka J, Sood R, Carrington B, Bishop K, Mullikin J, Huizing M, Garty BZ, Eyal E, Wolach B, Gavrieli R, Toren A, Soudack M, Atawneh OM, Babushkin T, Schiby G, Cullinane A, Avivi C, Polak-Charcon S, Barshack I, Amariglio N, Rechavi G, van der Werff ten Bosch J, Anikster Y, Klein C, Gahl WA, Somech R. Vilboux T, et al. Among authors: polak charcon s. N Engl J Med. 2013 Jul 4;369(1):54-65. doi: 10.1056/NEJMoa1301296. Epub 2013 Jun 5. N Engl J Med. 2013. PMID: 23738510 Free PMC article.
Accurate molecular classification of renal tumors using microRNA expression.
Fridman E, Dotan Z, Barshack I, David MB, Dov A, Tabak S, Zion O, Benjamin S, Benjamin H, Kuker H, Avivi C, Rosenblatt K, Polak-Charcon S, Ramon J, Rosenfeld N, Spector Y. Fridman E, et al. J Mol Diagn. 2010 Sep;12(5):687-96. doi: 10.2353/jmoldx.2010.090187. Epub 2010 Jul 1. J Mol Diagn. 2010. PMID: 20595629 Free PMC article.
Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy.
van Rijn JM, Werner L, Aydemir Y, Spronck JMA, Pode-Shakked B, van Hoesel M, Shimshoni E, Polak-Charcon S, Talmi L, Eren M, Weiss B, H J Houwen R, Barshack I, Somech R, Nieuwenhuis EES, Sagi I, Raas-Rothschild A, Middendorp S, Shouval DS. van Rijn JM, et al. Among authors: polak charcon s. Int J Mol Sci. 2020 Nov 2;21(21):8200. doi: 10.3390/ijms21218200. Int J Mol Sci. 2020. PMID: 33147779 Free PMC article.
Celiac disease resolution after allogeneic bone marrow transplantation is associated with absence of gliadin-specific memory response by donor-derived intestinal T-cells.
Ben-Horin S, Polak-Charcon S, Barshack I, Picard O, Fudim E, Yavzori M, Avivi C, Mardoukh C, Shimoni A, Chowers Y, Maor Y. Ben-Horin S, et al. Among authors: polak charcon s. J Clin Immunol. 2013 Nov;33(8):1395-402. doi: 10.1007/s10875-013-9943-9. Epub 2013 Oct 20. J Clin Immunol. 2013. PMID: 24142230
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