Zamir Shorer

Soroka Medical Center — Israel

Medicine · Health Sciences

30h-index3.0kcitations83works5.02yr avg
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Research Topics

Epilepsy research and treatment(17), Hereditary Neurological Disorders(15), Pharmacological Effects and Toxicity Studies(8), Mitochondrial Function and Pathology(7), Genetics and Neurodevelopmental Disorders(7)

Publications83 total

<i>ZNF142</i> mutation causes sex-dependent neurologic disorder
Journal of Medical Genetics·2024· 5 cited
Direct and Indirect Predictors of Burden in Arab-Bedouin and Jewish-Israeli Mothers Caring for a Child with Epilepsy
Healthcare·2023Open Access
Limb girdle muscular disease caused by <i>HMGCR</i> mutation and statin myopathy treatable with mevalonolactone
Proceedings of the National Academy of Sciences·2023· 54 citedOpen Access
Correlates of Caregiving Burden among Bedouin-Muslim Mothers of Children Diagnosed with Epilepsy
International Journal of Environmental Research and Public Health·2022· 5 citedOpen Access
<scp><i>PSMC1</i></scp> variant causes a novel neurological syndrome
Clinical Genetics·2022· 12 citedOpen Access
Phenotypic variability and mutation hotspot in <scp><i>COX15</i></scp>‐related Leigh syndrome
American Journal of Medical Genetics Part A·2020· 12 cited
Correlates of quality of life in mothers of children with diagnosed epilepsy
Epilepsy & Behavior·2019· 14 cited
<i>SEC31A</i> mutation affects ER homeostasis, causing a neurological syndrome
Journal of Medical Genetics·2018· 46 cited
Novel <i>SBF1</i> splice‐site null mutation broadens the clinical spectrum of Charcot‐Marie‐Tooth type 4B3 disease
Clinical Genetics·2018· 18 cited
Author response for "Novel &lt;i&gt;SBF1&lt;/i&gt; splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease"
2018Open Access
RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3
Brain·2018· 32 citedOpen Access
Temporal lobe surgery for intractable epilepsy in children: What to do with the hippocampus?
Seizure·2017· 10 citedOpen Access
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation
European Journal of Human Genetics·2017· 25 citedOpen Access
SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome
Brain·2017· 100 citedOpen Access
Issue Information – Table of Contents
Annals of Neurology·2016Open Access
Therapy with eculizumab for patients with CD59 p.Cys89Tyr mutation
Annals of Neurology·2016· 55 cited
Therapy with eculizumab for patients with primary p.Cys89Tyr mutation in the CD59 gene
Immunobiology·2016
New DSM-5 criteria for ADHD — Does it matter?
Comprehensive Psychiatry·2016· 27 citedOpen Access
Multiplex families with epilepsy
Neurology·2016· 25 citedOpen Access
<i>UNC80</i> mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel <i>NALCN</i>
Journal of Medical Genetics·2015· 49 cited
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Frequent Co-authors

Ohad S. Birk(13), Hagit Flusser(8), Ilan Shelef(7), Yonatan Perez(7), Rotem Kadir(7), Jacov Levy(6), Uri Kramer(6), Eli Hershkovitz(5), Daniel Halpérin(5), Libe Gradstein(5), Shareef Khateeb(4), Rivka Ofir(4), Ginat Narkis(4), Bruria Ben‐Zeev(4), Rachel Straussberg(4), Iris Noyman(4), Vered Pinsk(3), Ruti Parvari(3), Keren Liani-Leibson(3), Michael Volodarsky(3)