Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Zamir Shorer"'
Autor:
Sarit Aharoni, Regina Proskorovski‐Ohayon, Ramesh Kumar Krishnan, Yuval Yogev, Ohad Wormser, Noam Hadar, Anna Bakhrat, Ismael Alshafee, Maya Gombosh, Nadav Agam, Libe Gradstein, Zamir Shorer, Raz Zarivach, Marina Eskin‐Schwartz, Uri Abdu, Ohad S. Birk
Publikováno v:
Clinical Genetics. 102:324-332
Proteasome 26S, the eukaryotic proteasome, serves as the machinery for cellular protein degradation. It is composed of the 20S core particle and one or two 19S regulatory particles, composed of a base and a lid. To date, several human diseases have b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee73e286d9d7f1de57f5cdf4e19a4359
https://doi.org/10.1111/cge.14195
https://doi.org/10.1111/cge.14195
Autor:
Yuval Yogev, Zamir Shorer, Arie Koifman, Ohad Wormser, Max Drabkin, Daniel Halperin, Vadim Dolgin, Regina Proskorovski-Ohayon, Noam Hadar, Geula Davidov, Hila Nudelman, Raz Zarivach, Ilan Shelef, Yonatan Perez, Ohad S. Birk
Publikováno v:
Proceedings of the National Academy of Sciences. 120
Myopathy is the main adverse effect of the widely prescribed statin drug class. Statins exert their beneficial effect by inhibiting HMG CoA-reductase, the rate-controlling enzyme of the mevalonate pathway. The mechanism of statin myopathy is yet to b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a6576d3ebad920d24b912fac29ed6a24
https://doi.org/10.1073/pnas.2217831120
https://doi.org/10.1073/pnas.2217831120
Publikováno v:
International Journal of Environmental Research and Public Health; Volume 19; Issue 18; Pages: 11595
A paucity of research exists on caregiving burden (CB) and the factors associated with it among minority groups, such as Bedouin mothers of children diagnosed with epilepsy (CDE). The aim of this study was to explore associations between CB and care-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d0ce9385f5496d101b468536d8c633e
Publikováno v:
In International Journal of Pediatric Otorhinolaryngology December 2013 77(12):1919-1921
Autor:
Libe Gradstein, Daniel Halperin, Max Drabkin, Hagit Flusser, Ohad S. Birk, Ohad Wormser, Yuval Yogev, Vadim Dolgin, Zamir Shorer, Ilan Shelef
Publikováno v:
American Journal of Medical Genetics Part A. 182:1506-1512
COX15 mutations were shown to underlie Leigh syndrome (LS), a progressive subacute necrotizing encephalopathy caused by defects in the mitochondrial respiratory chain. Here, two siblings of consanguineous kindred presented in infancy with a syndrome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0155386031e783369321385c71e99d84
https://doi.org/10.1002/ajmg.a.61577
https://doi.org/10.1002/ajmg.a.61577
Autor:
Libe Gradstein, Max Drabkin, Barak Rotblat, Ilan Shelef, Uri Abdu, Hagit Flusser, Ohad Wormser, Rotem Kadir, Zamir Shorer, Yonatan Perez, Erez M Berman, Daniel Halperin, Ruth Birk, Ekaterina Eremenko, Ohad S. Birk, Yuval Yogev
Publikováno v:
Journal of Medical Genetics. 56:139-148
BackgroundConsanguineous kindred presented with an autosomal recessive syndrome of intrauterine growth retardation, marked developmental delay, spastic quadriplegia with profound contractures, pseudobulbar palsy with recurrent aspirations, epilepsy,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3debcba7c007c40a4fd06c63339dbbf4
https://doi.org/10.1136/jmedgenet-2018-105503
https://doi.org/10.1136/jmedgenet-2018-105503
Publikováno v:
Seizure. 52:81-88
Purpose Resection of the hippocampus can cause verbal memory decline, especially in the pediatric population. Thus, preservation of the hippocampus can be crucial for the quality of life of children with intractable temporal lobe epilepsy (TLE) who a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc94c69bd44ecd0c9b72ac288091d845
https://doi.org/10.1016/j.seizure.2017.09.020
https://doi.org/10.1016/j.seizure.2017.09.020
Autor:
Arie Koifman, Eugene Cohen, Ohad Wormser, Hagit Flusser, Analia Michaelovsky, Yuval Yogev, Ohad S. Birk, Daniel Halperin, Max Drabkin, Leonid Kachko, Anwar Abu Madegem, Rotem Kadir, Ruth Birk, Zamir Shorer, Yonatan Perez, Iris Noyman
Publikováno v:
European Journal of Human Genetics. 25:966-972
Twelve individuals of consanguineous Bedouin kindred presented with autosomal recessive progressive spastic paraplegia evident as of age 0-24 months, with spasticity of lower limbs, hyperreflexia, toe walking and equinus deformity. Kyphoscolisois was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d962e8fc2b718ea7f711628a907928d2
https://doi.org/10.1038/ejhg.2017.85
https://doi.org/10.1038/ejhg.2017.85
Autor:
Libe Gradstein, Dale Frank, Zamir Shorer, Yonatan Perez, Yair Sadaka, Tom Leibson, Hava Lichtig, Ohad S. Birk, Michael Volodarsky, Rotem Kadir, Ruthy Shaco-Levy, Keren Liani-Leibson
Publikováno v:
Human Molecular Genetics. 24:6485-6491
Siblings of non-consanguineous Jewish-Ethiopian ancestry presented with congenital axial hypotonia, weakness of the abducens nerve, psychomotor developmental delay with brain ventriculomegaly, variable thinning of corpus callosum and cardiac septal d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8b2bde6f76433bfe5569756f456f874
https://doi.org/10.1093/hmg/ddv357
https://doi.org/10.1093/hmg/ddv357