Publications by authors named "Edvardson Shimon"

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EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.
Saikat Ghosh, Jaskaran Singh, Nadirah S Damseh, Mariasavina Severino, Raffaella De Pace, Shimon Edvardson

Brain· October 2025

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A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System.
Shir Confino, Talya Dor, Adi Tovin, Yair Wexler, Zohar Ben-Moshe Livne, Shimon Edvardson

Int J Mol Sci· February 2022

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Macrophage migration inhibitory factor in Nodding syndrome.
Gil Benedek, Mahmoud Abed El Latif, Keren Miller, Mila Rivkin, Ally Ahmed Ramadhan Lasu, Shimon Edvardson

PLoS Negl Trop Dis· October 2021

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A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy.
Alessia Nasca, Ivano Di Meo, Yakov Fellig, Ann Saada, Orly Elpeleg, Shimon Edvardson

J Hum Genet· August 2021

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Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.
Charles-Joris Roux, Giulia Barcia, Manuel Schiff, Marie Sissler, Raphaël Levy, Shimon Edvardson

Mol Genet Metab· June 2021

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Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy.
Francisco Del Caño-Ochoa, Bobby G Ng, Malak Abedalthagafi, Mohammed Almannai, Ronald D Cohn, Edvardson Shimon

Genet Med· October 2020

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Dual-Targeted Autoimmune Sword in Fatal Epilepsy: Patient's glutamate receptor AMPA GluR3B peptide autoimmune antibodies bind, induce Reactive Oxygen Species (ROS) in, and kill both human neural cells and T cells.
Mia Levite, Daniel Zelig, Alon Friedman, Nili Ilouz, Raya Eilam, Shimon Edvardson

J Autoimmun· August 2020

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Protection or susceptibility to devastating childhood epilepsy: Nodding Syndrome associates with immunogenetic fingerprints in the HLA binding groove.
Gil Benedek, Mahmoud Abed El Latif, Keren Miller, Mila Rivkin, Ally Ahmed Ramadhan Lasu, Shimon Edvardson

PLoS Negl Trop Dis· July 2020

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Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy.
Ruth Sheffer, Michal Gur, Rebecca Brooks, Somaya Salah, Muhannad Daana, Shimon Edvardson

Eur J Hum Genet· September 2019

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Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination.
Tamar Harel, Debra Q Y Quek, Bernice H Wong, Amaury Cazenave-Gassiot, Markus R Wenk, Shimon Edvardson

Neurogenetics· December 2018

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De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Davor Lessel, Claudia Schob, Sébastien Küry, Margot R F Reijnders, Tamar Harel, Shimon Edvardson

Am J Hum Genet· January 2018

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De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Davor Lessel, Claudia Schob, Sébastien Küry, Margot R F Reijnders, Tamar Harel, Shimon Edvardson

Am J Hum Genet· November 2017

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Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway.
Shimon Edvardson, Guoling Tian, Hayley Cullen, Hannah Vanyai, Linh Ngo

Hum Mol Genet· November 2016

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Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.
Michele Giunta, Shimon Edvardson, Yaobo Xu, Markus Schuelke, Aurora Gomez-Duran

Hum Mol Genet· July 2016

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Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
Elizabeth J Bhoj, Dong Li, Margaret Harr, Shimon Edvardson, Orly Elpeleg

Am J Hum Genet· April 2016

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TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.
Gali Heimer, Danit Oz-Levi, Eran Eyal, Shimon Edvardson, Andreea Nissenkorn

Eur J Paediatr Neurol· January 2016

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Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients.
Shimon Edvardson, Frank Gerhard, Chaim Jalas, Jens Lachmann, Dafna Golan

J Med Genet· November 2015

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EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
Veronika Boczonadi, Juliane S Müller, Angela Pyle, Jennifer Munkley, Talya Dor, Shimon Edvardson

Nat Commun· July 2014

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Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
Monique Van Scherpenzeel, Sharita Timal, Daisy Rymen, Alexander Hoischen, Manfred Wuhrer, Shimon Edvardson

Brain· April 2014

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Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.
Amina Chaouch, Vito Porcelli, Daniel Cox, Shimon Edvardson, Pasquale Scarcia

J Neuromuscul Dis· January 2014

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Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.
Ronen Spiegel, Ophry Pines, Asaf Ta-Shma, Efrat Burak, Avraham Shaag, Shimon Edvardson

Am J Hum Genet· March 2012

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Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.
Ann Saada, Shimon Edvardson, Avraham Shaag, Wendy K Chung, Reeval Segel

J Inherit Metab Dis· January 2012

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Functional consequences and structural interpretation of mutations of human choline acetyltransferase.
Xin-Ming Shen, Thomas O Crawford, Joan Brengman, Gyula Acsadi, Susan Iannaconne, Shimon Edvardson

Hum Mutat· November 2011

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Retinol concentration in maternal and cord serum: its relation to birth weight in healthy mother-infant pairs.
Elyahu Gazala, Batia Sarov, Eli Hershkovitz, Shimon Edvardson, David Sklan

Early Hum Dev· February 2003

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