Search Results - "COHEN, Michal"

Clinically important age-related differences in sleep related disordered breathing in infants and children with Prader-Willi Syndrome by Cohen, Michal, Hamilton, Jill, Narang, Indra

“…Sleep related disordered breathing (SDB) in pediatric Prader-Willi Syndrome is gaining increased attention due to the possible association of growth hormone…”
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Has Parkinson Disease Gone to the Dogs? by Becker‐Cohen, Michal, Zimran, Ari, Arkadir, David, Revel‐Vilk, Shoshana, Bakeman, Uri, Szer, Jeff

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Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease by Hurvitz, Noa, Dinur, Tama, Becker-Cohen, Michal, Cozma, Claudia, Hovakimyan, Marina, Oppermann, Sebastian, Demuth, Laura, Rolfs, Arndt, Abramov, Aya, Zimran, Ari, Revel-Vilk, Shoshana

“…The role of glucosylsphingosine (lyso-Gb1), a downstream metabolic product of glucosylceramide, for monitoring treated and untreated children with Gaucher…”
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Liver steatosis is a major predictor of poor outcomes in chronic hepatitis C patients with sustained virological response by Peleg, Noam, Issachar, Assaf, Sneh Arbib, Orly, Cohen‐Naftaly, Michal, Harif, Yael, Oxtrud, Evelin, Braun, Marius, Leshno, Moshe, Barsheshet, Alon, Shlomai, Amir

“…Sustained virological response (SVR) results in reduced incidence of hepatocellular carcinoma (HCC) and mortality among chronic hepatitis C (CHC) patients with…”
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Splicing Factor hnRNP A2/B1 Regulates Tumor Suppressor Gene Splicing and Is an Oncogenic Driver in Glioblastoma by GOLAN-GERSTL, Regina, COHEN, Michal, SHILO, Asaf, SUH, Sung-Suk, BAKACS, Arianna, COPPOLA, Luigi, KARNI, Rotem

“…The process of alternative splicing is widely misregulated in cancer, but the contribution of splicing regulators to cancer development is largely unknown. In…”
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Rapid home therapy infusion of velaglucerase alfa in naïve patients with Gaucher disease by Becker-Cohen, Michal, Revel-Vilk, Shoshana, Frydman, Dafna, Dinur, Tama, Tiomkin, Maayan, Istaiti, Majdolen, Arbel, Naama, Bauer, Peter, Cozma, Claudia, Rolfs, Arndt, Szer, Jeff, Zimran, Ari

“…Enzyme replacement therapy (ERT) has revolutionised the management of patients with Gaucher disease (GD). In 2018, we published the safety and efficacy of…”
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Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm? by Dinur, Tama, Bauer, Peter, Beetz, Christian, Kramp, Guido, Cozma, Claudia, Iurașcu, Marius-Ionuț, Becker-Cohen, Michal, Istaiti, Majdolen, Rolfs, Arndt, Zimran, Ari, Revel-Vilk, Shoshana

“…For years, the gold standard for diagnosing Gaucher disease (GD) has been detecting reduced β-glucocerebrosidase (GCase) activity in peripheral blood cells…”
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Glucosylsphingosine is a reliable response biomarker in Gaucher disease by Arkadir, David, Dinur, Tama, Revel‐Vilk, Shoshana, Becker Cohen, Michal, Cozma, Claudia, Hovakimyan, Marina, Eichler, Sabrina, Rolfs, Arndt, Zimran, Ari

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Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data by Istaiti, Majdolen, Revel‐Vilk, Shoshana, Becker‐Cohen, Michal, Dinur, Tama, Ramaswami, Uma, Castillo‐Garcia, Daniela, Ceron‐Rodriguez, Magdalena, Chan, Alicia, Rodic, Predrag, Tincheva, Radka Stefanova, Al‐Hertani, Walla, Lee, Beom Hee, Yang, Chia‐Feng, Kiec‐Wilk, Beata, Fiumara, Agata, Rubio, Barbara, Zimran, Ari

“…Ambroxol hydrochloride is an oral mucolytic drug available over‐the‐counter for many years as cough medicine. In 2009 it was identified as a pharmacological…”
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The splicing factor SRSF6 is amplified and is an oncoprotein in lung and colon cancers by Cohen-Eliav, Michal, Golan-Gerstl, Regina, Siegfried, Zahava, Andersen, Claus L, Thorsen, Kasper, Ørntoft, Torben F, Mu, David, Karni, Rotem

“…An increasing body of evidence connects alterations in the process of alternative splicing with cancer development and progression. However, a direct role of…”
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Parental Responses to Online Sexual Grooming Events Experienced by Their Teenage Children by Dolev-Cohen, Michal, Yosef, Tamar, Meiselles, Michala

“…Online sexual grooming (a manipulative process in which the perpetrator locates a young person and creates an abusive relationship with the child that involves…”
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Rapid velaglucerase alfa infusion for Gaucher disease: 5‐year data by Becker‐Cohen, Michal, Szer, Jeff, Arbel, Naama, Frydman, Dafna, Dinur, Tama, Istaiti, Majdolene, Revel‐Vilk, Shoshana, Zimran, Ari

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Pre Clinical Assessment of AAVrh74.MCK.GNE Viral Vector Therapeutic Potential: Robust Activity Despite Lack of Consistent Animal Model for GNE Myopathy by Mitrani-Rosenbaum, Stella, Yakovlev, Lena, Becker Cohen, Michal, Argov, Zohar, Fellig, Yakov, Harazi, Avi

“…GNE myopathy is a unique adult onset rare neuromuscular disease caused by recessive mutations in the GNE gene. The pathophysiological mechanism of this…”
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The impact of short hospital stay on prognosis after acute myocardial infarction: An analysis from the ACSIS database by Tomer, Orr, Leibowitz, David, Einhorn‐Cohen, Michal, Shlomo, Nir, Dobrecky‐Mery, Idit, Blatt, Alex, Meisel, Simcha, Alcalai, Ronny

“…Background Current evidence regarding the optimal length of hospital stay (LOS) following myocardial infarction (MI) is limited. This study aimed to examine…”
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Diiodothyropropionic Acid (DITPA) in the Treatment of MCT8 Deficiency by Verge, Charles F, Konrad, Daniel, Cohen, Michal, Di Cosmo, Caterina, Dumitrescu, Alexandra M, Marcinkowski, Teresa, Hameed, Shihab, Hamilton, Jill, Weiss, Roy E, Refetoff, Samuel

“…Context: Monocarboxylate transporter 8 (MCT8) is a thyroid hormone-specific cell membrane transporter. MCT8 deficiency causes severe psychomotor retardation…”
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Rapid intravenous infusion of velaglucerase‐alfa in adults with type 1 Gaucher disease by Zimran, Ari, Revel‐Vilk, Shoshana, Becker‐Cohen, Michal, Chicco, Gaya, Arbel, Naama, Rolfs, Arndt, Szer, Jeff

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Modeling suggests that microliter volumes of contaminated blood caused an outbreak of hepatitis C during computerized tomography by Shteyer, Eyal, Shekhtman, Louis, Zinger, Tal, Harari, Sheri, Gafanovich, Inna, Wolf, Dana, Ivgi, Hefziba, Barsuk, Rima, Dery, Ilana, Armoni, Daniela, Rivkin, Mila, Pipalia, Rahul, Cohen Eliav, Michal, Skorochod, Yizhak, Breuer, Gabriel S, Tur-Kaspa, Ran, Weil Wiener, Yonit, Stern, Adi, Cotler, Scott J, Dahari, Harel, Lurie, Yoav

“…Acute hepatitis C (AHC) is not frequently identified because patients are usually asymptomatic, although may be recognized after iatrogenic exposures such as…”
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Consensus care recommendations for alfapump ® in cirrhotic patients with refractory or recurrent ascites by Aagaard, Niels Kristian, Malago, Massimo, De Gottardi, Andrea, Thomas, Michael, Sauter, Gerd, Engelmann, Cornelius, Aranovich, David, Cohen, Michal, Thévenot, Thierry, Ehmann, Thomas, Capel, Jeroen, Angeli, Paolo, Jalan, Rajiv, Stirnimann, Guido

“…The alfapump is an implantable class III medical device that pumps ascitic fluid from the peritoneal space to the urinary bladder from where it is excreted…”
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Vascular Aging Detected by Peripheral Endothelial Dysfunction Is Associated With ECG-Derived Physiological Aging by Toya, Takumi, Ahmad, Ali, Attia, Zachi, Cohen-Shelly, Michal, Ozcan, Ilke, Noseworthy, Peter A, Lopez-Jimenez, Francisco, Kapa, Suraj, Lerman, Lilach O, Friedman, Paul A, Lerman, Amir

“…Background An artificial intelligence algorithm that detects age using the 12-lead ECG has been suggested to signal "physiologic age." This study aimed to…”
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In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant by Cohen, Michal, Pignatti, Emanuele, Dines, Monica, Mory, Adi, Ekhilevitch, Nina, Kolodny, Rachel, Flück, Christa E, Tiosano, Dov

“…Classical congenital adrenal hyperplasia (CAH) caused by pathogenic variants in the steroid 21-hydroxylase gene ( ) is a severe life-threatening condition. We…”
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