The effect of nucleotides and mitochondrial chaperonin 10 on the structure and chaperone activity of mitochondrial chaperonin 60 G Levy‐Rimler, P Viitanen, C Weiss, R Sharkia, A Greenberg, A Niv, ... European journal of biochemistry 268 (12), 3465-3472, 2001 | 146 | 2001 |
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation M Mallaret, M Synofzik, J Lee, CA Sagum, M Mahajnah, R Sharkia, ... Brain 137 (2), 411-419, 2014 | 122 | 2014 |
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia M Minnerop, D Kurzwelly, H Wagner, AS Soehn, J Reichbauer, F Tao, ... Brain 140 (6), 1561-1578, 2017 | 109 | 2017 |
Bicarbonate uptake in the marine macroalga Ulva sp. is inhibited by classical probes of anion exchange by red blood cells Z Drechsler, R Sharkia, ZI Cabantchik, S Beer Planta 191, 34-40, 1993 | 105 | 1993 |
The changing pattern of consanguinity in a selected region of the Israeli Arab community R Sharkia, M Zaid, A Athamna, D Cohen, A Azem, A Zalan American Journal of Human Biology 20 (1), 72-77, 2008 | 47 | 2008 |
The relationship of arginine groups to photosynthetic HCO 3 - uptake inUlva sp. mediated by a putative anion exchanger Z Drechsler, R Sharkia, ZI Cabantchik, S Beer Planta 194, 250-255, 1994 | 36 | 1994 |
Clinical characteristics of autism spectrum disorder in Israel: impact of ethnic and social diversities M Mahajnah, R Sharkia, H Shalabe, R Terkel-Dawer, A Akawi, N Zelnik BioMed Research International 2015 (1), 962093, 2015 | 32 | 2015 |
CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis H Hengel, A Magee, M Mahanjah, JM Vallat, R Ouvrier, M Abu-Rashid, ... Neurology: Genetics 3 (2), e144, 2017 | 31 | 2017 |
On the oligomeric state of chloroplast chaperonin 10 and chaperonin 20 R Sharkia, AL Bonshtien, I Mizrahi, C Weiss, A Niv, A Lustig, PV Viitanen, ... Biochimica et Biophysica Acta (BBA)-Proteins and Proteomics 1651 (1-2), 76-84, 2003 | 31 | 2003 |
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery H Hengel, R Buchert, M Sturm, TB Haack, Y Schelling, M Mahajnah, ... European Journal of Human Genetics 28 (8), 1034-1043, 2020 | 30 | 2020 |
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome R Sharkia, KJ Wierenga, A Kessel, A Azem, E Bertini, R Carrozzo, ... Journal of inherited metabolic disease 42 (2), 264-275, 2019 | 30 | 2019 |
A membrane-located polypeptide of Ulva sp. which may be involved in HCO 3 - uptake is recognized by antibodies raised against the … R Sharkia, S Beer, ZI Cabantchik Planta 194, 247-249, 1994 | 30 | 1994 |
A new case confirming and expanding the phenotype spectrum of ADAT3-related intellectual disability syndrome R Sharkia, A Zalan, A Jabareen-Masri, H Zahalka, M Mahajnah European journal of medical genetics 62 (11), 103549, 2019 | 27 | 2019 |
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus AK Mayer, M Mahajnah, MG Thomas, Y Cohen, A Habib, M Schulze, ... Brain 142 (6), 1528-1534, 2019 | 27 | 2019 |
Changes in marriage patterns among the Arab community in Israel over a 60-year period R Sharkia, M Mahajnah, E Athamny, M Khatib, A Sheikh-Muhammad, ... Journal of biosocial science 48 (2), 283-287, 2016 | 27 | 2016 |
The relationship between parental stress and mastery, forgiveness, and social support among parents of children with autism M Weinberg, N Gueta, J Weinberg, MA Much, A Akawi, R Sharkia, ... Research in Autism Spectrum Disorders 81, 101712, 2021 | 23 | 2021 |
Comparative screening of FMF mutations in various communities of the Israeli society R Sharkia, M Mahajnah, A Zalan, M Athamna, A Azem, K Badarneh, ... European Journal of Medical Genetics 56 (7), 351-355, 2013 | 22 | 2013 |
Differential effects of co-chaperonin homologs on cpn60 oligomers AL Bonshtien, A Parnas, R Sharkia, A Niv, I Mizrahi, A Azem, C Weiss Cell Stress and Chaperones 14 (5), 509-519, 2009 | 22 | 2009 |
Mental retardation and consanguinity in a selected region of the Israeli Arab community R Sharkia, A Azem, Q Kaiyal, N Zelnik, M Mahajnah Central European journal of medicine 5, 91-96, 2010 | 19 | 2010 |
Novel missense variants in ADAT3 as a cause of syndromic intellectual disability E Thomas, AM Lewis, Y Yang, S Chanprasert, L Potocki, DA Scott Journal of Pediatric Genetics 8 (04), 244-251, 2019 | 18 | 2019 |