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The FEBS Journal|March 11, 2024
Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co-regulate proteasomes and mitochondriaSara Al Rawi, Lorna Simpson, Guðrún Agnarsdóttir, et al.
Nature Communications|February 7, 2019
Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathyBoris Fichtman, Fadia Zagairy, Nitzan Biran, et al.
European Journal of Human Genetics : EJHG|November 28, 2013
Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathyRonen Spiegel, Ann Saada, Jonatan Halvardson, et al.
American Journal of Medical Genetics. Part A|January 14, 2009
Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mappingLiat Benayoun, Ronen Spiegel, Noa Auslender, et al.
Harefuah|January 9, 2016
[HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL]Ula Aalimi, Etty Spiegel, Ilana Chervinsky, et al.
Scientific Reports|June 17, 2020
Inhaled nitric oxide therapy in acute bronchiolitis: A multicenter randomized clinical trialAviv Goldbart, Inbal Golan-Tripto, Giora Pillar, et al.
Scientific Reports|October 15, 2020
Author Correction: Inhaled nitric oxide therapy in acute bronchiolitis: A multicenter randomized clinical trialAviv Goldbart, Inbal Golan-Tripto, Giora Pillar, et al.
European Journal of Medical Genetics|October 2, 2014
Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 geneHanna Mandel, Ksenya Cohen Katsanelson, Morad Khayat, et al.
Plos One|May 3, 2017
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiencyLucia Abela, Ronen Spiegel, Lisa M Crowther, et al.
Journal of Medical Genetics|December 15, 2010
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndromeRonen Spiegel, Morad Khayat, Stavit A Shalev, et al.
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