Search Results - "Ginsberg, Mira"

Nitrous Oxide-induced Myeloneuropathy Due to Recreational Abuse by Dabby, Ron, Paleacu Kertesz, Diana, Demurchev, Ilia, Hershkovich, Oded, Ginsberg, Mira, Sadeh, Menachem

“…The recreational use of nitrous oxide (N2O) has increased in recent years with a noticeable surge in the incidence of nitrous oxide-related myeloneuropathy. To…”
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Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients by Kuperberg, Maya, Lev, Dorit, Blumkin, Lubov, Zerem, Ayelet, Ginsberg, Mira, Linder, Ilan, Carmi, Nirit, Kivity, Sarah, Lerman-Sagie, Tally, Leshinsky-Silver, Esther

“…Whole exome sequencing enables scanning a large number of genes for relatively low costs. The authors investigate its use for previously undiagnosed pediatric…”
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Titin copy number variations associated with dominant inherited phenotypes by Perrin, Aurélien, Métay, Corinne, Savarese, Marco, Ben Yaou, Rabah, Demidov, German, Nelson, Isabelle, Solé, Guilhem, Péréon, Yann, Bertini, Enrico Silvio, Fattori, Fabiana, D'Amico, Adele, Ricci, Federica, Ginsberg, Mira, Seferian, Andreea, Boespflug-Tanguy, Odile, Servais, Laurent, Chapon, Françoise, Lagrange, Emmeline, Gaudon, Karen, Bloch, Adrien, Ghanem, Robin, Guyant-Maréchal, Lucie, Johari, Mridul, Van Goethem, Charles, Fardeau, Michel, Morales, Raul Juntas, Genetti, Casie A, Marttila, Minttu, Koenig, Michel, Beggs, Alan H, Udd, Bjarne, Bonne, Gisèle, Cossée, Mireille

“…Titinopathies are caused by mutations in the titin gene ( ). Titin is the largest known human protein; its gene has the longest coding phase with 364 exons…”
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A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome by Leshinsky-Silver, Esther, Shapira, Daniel, Yosovitz, Keren, Ginsberg, Mira, Lerman-Sagie, Tally, Lev, Dorit

“…Abstract Congenital myasthenic syndromes (CMS) are rare genetic disorders characterized by impaired neuromuscular transmission. They are caused by mutations in…”
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Pediatric Refractory Partial Status Epilepticus Responsive to Topiramate by Blumkin, Lubov, Lerman-Sagie, Tally, Houri, Tzion, Gilad, Eli, Nissenkorn, Andrea, Ginsberg, Mira, Watemberg, Nathan

“…Topiramate was safely administered to two young children with refractory partial status epilepticus via nasogastric tube in rapid titration up to a very high…”
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Clinical Correlates of Frontal Intermittent Rhythmic Delta Activity in Children by Watemberg, Nathan, Gandelman, Revital, Neufeld, Miri Y., Ginsberg, Mira, Lerman-Sagie, Tally, Kramer, Uri

“…Frontal intermittent rhythmic delta activity is an electrographic pattern of unclear origin. Previously thought to correlate with deep midline and…”
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