Search Results - "Shorer, Zamir"

SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome by Perez, Yonatan, Shorer, Zamir, Liani-Leibson, Keren, Chabosseau, Pauline, Kadir, Rotem, Volodarsky, Michael, Halperin, Daniel, Barber-Zucker, Shiran, Shalev, Hanna, Schreiber, Ruth, Gradstein, Libe, Gurevich, Evgenia, Zarivach, Raz, Rutter, Guy A, Landau, Daniel, Birk, Ohad S

“…A novel autosomal recessive cerebro-renal syndrome was identified in consanguineous Bedouin kindred: neurological deterioration was evident as of early age,…”
Get full text

Direct and Indirect Predictors of Burden in Arab-Bedouin and Jewish-Israeli Mothers Caring for a Child with Epilepsy by Joss, Idit, Bachner, Yaacov G, Shorer, Talia, Shorer, Zamir, O’Rourke, Norm

“…Objective: Caring for a child with epilepsy poses various psychological, physical and medical challenges; these can lead to caregiver burden. The aim of this…”
Get full text

Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9 by Barel, Ortal, Shalev, Stavit A., Ofir, Rivka, Cohen, Asi, Zlotogora, Joel, Shorer, Zamir, Mazor, Galia, Finer, Gal, Khateeb, Shareef, Zilberberg, Noam, Birk, Ohad S.

“…We describe a maternally transmitted genomic-imprinting syndrome of mental retardation, hypotonia, and unique dysmorphism with elongated face. We mapped the…”
Get full text

Effect of single dose methylphenidate on walking and postural stability under single- and dual-task conditions in older adults - a double-blind randomized control trial by Zamir, Shorer, Bachner, Yaacov G, Tal, Guy, Melzer, Itshak

“…Methylphenidate (MPH) action may improve executive function and motor function. Effects of MPH on balance function in older adults were investigated. A…”
Get full text

A Novel Mutation in SCN9A in a Child With Congenital Insensitivity to Pain by Shorer, Zamir, MD, Wajsbrot, Einav, BSc, Liran, Tamir-Hostovsky, MD, Levy, Jacov, MD, Parvari, Ruti, PhD

“…Abstract Backround Congenital insensitivity to pain (CIP) is a rare condition in which patients have no pain perception and anosmia but are otherwise…”
Get full text

Immunoglobulin Treatment for Severe Childhood Epilepsy by Geva-Dayan, Karen, MD, Shorer, Zamir, MD, Menascu, Shay, MD, Linder, Ilan, MD, Goldberg-Stern, Hadassah, MD, Heyman, Eli, MD, Lerman-Sagie, Tali, MD, Ben Zeev, Bruria, MD, Kramer, Uri, MD

“…Abstract We have used intravenous immunoglobulin to treat pediatric patients with various severe epileptic conditions. This retrospective, multicenter study…”
Get full text

Variation of Muscular Structure in Congenital Insensitivity to Pain and Anhidrosis by Shorer, Zamir, MD, Shaco-Levy, Ruth, MD, Pinsk, Vered, MD, Kachko, Leonid, MD, Levy, Jacov, MD

“…Abstract Congenital insensitivity to pain with anhidrosis is a rare disease affecting the nervous system. The patients present with unexplained fever from poor…”
Get full text

Correlates of Caregiving Burden among Bedouin-Muslim Mothers of Children Diagnosed with Epilepsy by Edelstein, Offer E, Shorer, Talia, Shorer, Zamir, Bachner, Yaacov G

“…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…”
Get full text

Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone by Yogev, Yuval, Shorer, Zamir, Koifman, Arie, Wormser, Ohad, Drabkin, Max, Halperin, Daniel, Dolgin, Vadim, Proskorovski-Ohayon, Regina, Hadar, Noam, Davidov, Geula, Nudelman, Hila, Zarivach, Raz, Shelef, Ilan, Perez, Yonatan, Birk, Ohad S

“…Myopathy is the main adverse effect of the widely prescribed statin drug class. Statins exert their beneficial effect by inhibiting HMG CoA-reductase, the…”
Get full text

ZNF142 mutation causes sex-dependent neurologic disorder by Proskorovski-Ohayon, Regina, Eskin-Schwartz, Marina, Shorer, Zamir, Kadir, Rotem, Halperin, Daniel, Drabkin, Max, Yogev, Yuval, Aharoni, Sarit, Hadar, Noam, Cohen, Hagit, Eremenko, Ekaterina, Perez, Yonatan, Birk, Ohad S

“…Sex-specific predilection in neurological diseases caused by mutations in autosomal genes is a phenomenon whose molecular basis is poorly understood. We…”
Get more information

Correlates of quality of life in mothers of children with diagnosed epilepsy by Edelstein, Offer E., Shorer, Talia, Shorer, Zamir, Bachner, Yaacov G.

“…Contrary to a plethora of studies on the quality of life (QoL) of parents caring for children with chronic conditions, information regarding parents of…”
Get full text

Therapy with eculizumab for patients with CD59 p.Cys89Tyr mutation by Mevorach, Dror, Reiner, Inna, Grau, Amir, Ilan, Uri, Berkun, Yackov, Ta-Shma, Asaf, Elpeleg, Orly, Shorer, Zamir, Edvardson, Simon, Tabib, Adi

“…Objective The objective of this work was to report on the outcome of eculizumab treatment in pediatric patients with recurrent acute predominantly motor,…”
Get full text

CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy by Nevo, Yoram, Ben-Zeev, Bruria, Tabib, Adi, Straussberg, Rachel, Anikster, Yair, Shorer, Zamir, Fattal-Valevski, Aviva, Ta-Shma, Asaf, Aharoni, Sharon, Rabie, Malcolm, Zenvirt, Shamir, Goldshmidt, Hanoch, Fellig, Yakov, Shaag, Avraham, Mevorach, Dror, Elpeleg, Orly

“…CD59 deficiency is a common finding in RBCs and WBCs in patients with chronic hemolysis suffering from paroxysmal nocturnal hemoglobinuria in which the…”
Get full text

UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN by Perez, Yonatan, Kadir, Rotem, Volodarsky, Michael, Noyman, Iris, Flusser, Hagit, Shorer, Zamir, Gradstein, Libe, Birnbaum, Ramon Y, Birk, Ohad S

“…A syndrome of profound hypotonia, intellectual disability, intrauterine growth retardation with subsequent failure to thrive, dyskinesia and epilepsy was…”
Get more information

New DSM-5 Criteria for ADHD- Does it Matter? by Rigler, Tohar, Manor, Iris, Kalansky, Adie, Shorer, Zamir, Noyman, Iris, Sadaka, Yair

“…Abstract Objective The new Diagnostic Statistical Manual (DSM) requires the presence of fewer symptoms to make a diagnosis of adult ADHD while the criteria for…”
Get full text

SEC31A mutation affects ER homeostasis, causing a neurological syndrome by Halperin, Daniel, Kadir, Rotem, Perez, Yonatan, Drabkin, Max, Yogev, Yuval, Wormser, Ohad, Berman, Erez M, Eremenko, Ekaterina, Rotblat, Barak, Shorer, Zamir, Gradstein, Libe, Shelef, Ilan, Birk, Ruth, Abdu, Uri, Flusser, Hagit, Birk, Ohad S

“…Consanguineous kindred presented with an autosomal recessive syndrome of intrauterine growth retardation, marked developmental delay, spastic quadriplegia with…”
Get more information

RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3 by Perez, Yonatan, Menascu, Shay, Cohen, Idan, Kadir, Rotem, Basha, Omer, Shorer, Zamir, Romi, Hila, Meiri, Gal, Rabinski, Tatiana, Ofir, Rivka, Yeger-Lotem, Esti, Birk, Ohad S

“…RSRC1 polymorphisms are associated with altered brain function in schizophrenia. Perez et al. show that an RSRC1 mutation causes intellectual disability,…”
Get full text

Blood–brain barrier dysfunction can contribute to pharmacoresistance of seizures by Salar, Seda, Maslarova, Anna, Lippmann, Kristina, Nichtweiss, Julia, Weissberg, Itai, Sheintuch, Liron, Kunz, Wolfram S., Shorer, Zamir, Friedman, Alon, Heinemann, Uwe

“…Summary Objective We tested the hypothesis that interstitial albumin can contribute to pharmacoresistance, which is common among patients with focal…”
Get full text

The effect of methylphenidate on postural stability under single and dual task conditions in children with attention deficit hyperactivity disorder — A double blind randomized control trial by Jacobi-Polishook, Talia, Shorer, Zamir, Melzer, Itshak

“…Abstract Objectives To investigate the effects of Methylphenidate (MPH) on postural stability in attention deficit hyperactivity disorder (ADHD) children in…”
Get full text

Changes in Cerebral Venous Sinuses Diameter After Lumbar Puncture in Idiopathic Intracranial Hypertension: A Prospective MRI Study by Horev, Anat, Hallevy, Hen, Plakht, Ygal, Shorer, Zamir, Wirguin, Itzhak, Shelef, Ilan

“…ABSTRACT BACKGROUND Idiopathic intracranial hypertension (IIH), is characterized by elevated intracranial pressure (ICP) without a clear cause. Recently it was…”
Get full text