Publications by authors named "Tamar Paperna"

30Publications

Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population.

Eur J Med Genet 2020 Feb 25;63(2):103643. Epub 2019 Mar 25.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183059
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http://dx.doi.org/10.1016/j.ejmg.2019.03.007DOI Listing
February 2020

Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt.

Rambam Maimonides Med J 2018 Jul 30;9(3). Epub 2018 Jul 30.

The Genetics Institute, Rambam Health Care Center, Haifa, Israel.

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http://dx.doi.org/10.5041/RMMJ.10341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6115477PMC
July 2018

Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.

Am J Hum Genet 2016 Nov 20;99(5):1172-1180. Epub 2016 Oct 20.

The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525433, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097939PMC
November 2016

Gene expression profiling of the response to interferon beta in Epstein-Barr-transformed and primary B cells of patients with multiple sclerosis.

PLoS One 2014 15;9(7):e102331. Epub 2014 Jul 15.

Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel; Division of Neuroimmunology and Multiple Sclerosis Center, Carmel Medical Center, Haifa, Israel.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0102331PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099420PMC
December 2015

Multiple sclerosis in diverse populations: characteristics in distinct Arab ethnicities in Israel.

Mult Scler 2012 Dec 8;18(12):1737-44. Epub 2012 May 8.

Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Israel.

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http://dx.doi.org/10.1177/1352458512445059DOI Listing
December 2012

The ubiquitin-proteasome pathway regulates claudin 5 degradation.

J Cell Biochem 2012 Jul;113(7):2415-23

Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1002/jcb.24118DOI Listing
July 2012

Aberrant expression of the apoptosis-related proteins BAK and MCL1 in T cells in multiple sclerosis.

J Neuroimmunol 2012 Mar 16;244(1-2):51-6. Epub 2012 Jan 16.

Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Carmel Medical Center, Haifa, Israel.

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http://dx.doi.org/10.1016/j.jneuroim.2011.12.026DOI Listing
March 2012

Tight junction proteins expression and modulation in immune cells and multiple sclerosis.

J Cell Mol Med 2012 Apr;16(4):765-75

Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1111/j.1582-4934.2011.01380.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3822847PMC
April 2012

Involvement of phosphodiesterases in autoimmune diseases.

J Neuroimmunol 2010 Mar 25;220(1-2):43-51. Epub 2010 Jan 25.

Department of Immunology, Weizmann Institute of Science, Rehovot, Israel.

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http://dx.doi.org/10.1016/j.jneuroim.2009.12.012DOI Listing
March 2010

Internet usage by patients with multiple sclerosis: implications to participatory medicine and personalized healthcare.

Mult Scler Int 2010 30;2010:640749. Epub 2010 Jun 30.

Rappaport Faculty of Medicine and Research Institute, Technion - Israel Institute of Technology, P.O. Box 9649, Haifa 31096, Israel.

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http://dx.doi.org/10.1155/2010/640749DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3196922PMC
November 2011

Immunomodulation by chronobiologically-based glucocorticoids treatment for multiple sclerosis relapses.

J Neuroimmunol 2009 May 28;210(1-2):124-7. Epub 2009 Mar 28.

Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1016/j.jneuroim.2009.03.004DOI Listing
May 2009

Translation towards personalized medicine in Multiple Sclerosis.

J Neurol Sci 2008 Nov 12;274(1-2):68-75. Epub 2008 Sep 12.

Multiple Sclerosis & Brain Research Center, Carmel Medical Center, Israel.

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http://dx.doi.org/10.1016/j.jns.2008.07.028DOI Listing
November 2008

Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markers.

Pharmacogenet Genomics 2007 Aug;17(8):657-66

Division of Neuroimmunology and Multiple Sclerosis Center, Rappaport Faculty of Medicine and Research Institute, Technion and Carmel Medical Center, Haifa, Israel.

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http://dx.doi.org/10.1097/FPC.0b013e3281299169DOI Listing
August 2007

Chronotherapy using corticosteroids for multiple sclerosis relapses.

J Neurol Neurosurg Psychiatry 2007 Aug 20;78(8):886-8. Epub 2006 Oct 20.

Division of Neuroimmunology, Multiple Sclerosis Center, Carmel Medical Center, 7 Michal Street, Haifa 34362, Israel.

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http://dx.doi.org/10.1136/jnnp.2006.104000DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2117717PMC
August 2007

Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews.

J Clin Endocrinol Metab 2005 Sep 19;90(9):5463-5. Epub 2005 Jul 19.

Genetics Institute and Division of Endocrinology, Meyer Children's Hospital, P.O.B. 9602, Haifa 31096, Israel.

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http://dx.doi.org/10.1210/jc.2005-1145DOI Listing
September 2005

Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.

J Am Acad Dermatol 2002 Apr;46(4):510-6

Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.

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http://dx.doi.org/10.1067/mjd.2002.119673DOI Listing
April 2002