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1دورية أكاديمية
المصدر: Journal of Pediatric Neurology; Dec2023, Vol. 21 Issue 6, p437-439, 3p
مصطلحات موضوعية: MYOCLONUS genetics, MYOCLONUS, GENETIC mutation, SEQUENCE analysis, DYSTONIA, DIFFERENTIAL diagnosis, PHENOTYPES, ADOLESCENCE
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2دورية أكاديمية
المؤلفون: Aljabri, Mohammed F., Kamal, Naglaa M., Alghamdi, Abdulrhman, Alghamdi, Hamdan, Alomairi, Naif
المصدر: Italian Journal of Pediatrics; 2/15/2021, Vol. 47 Issue 1, p1-4, 4p
مصطلحات موضوعية: MYOCLONUS genetics, CARBAMAZEPINE, CYTOSKELETAL proteins, DYSTONIA, GENETIC mutation, MYOCLONUS, WALKING, GENETIC testing
مصطلحات جغرافية: SAUDI Arabia
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3دورية أكاديمية
المؤلفون: Pereira, Miguel, Durães, João, do Carmo Macário, Maria
المصدر: Practical Neurology; May2020, Vol. 20 Issue 3, p249-252, 4p, 2 Black and White Photographs, 1 Chart
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4دورية أكاديمية
المؤلفون: Iseghem, Vincent Van, McGovern, Eavan, Apartis, Emmanuelle, Keren, Boris, Vidailhet, Marie, Roze, Emmanuel, Degos, Bertrand
المصدر: Tremor & Other Hyperkinetic Movements; 2020, p1-4, 4p
مصطلحات موضوعية: DELETION mutation, CHROMOSOME abnormalities, MOVEMENT disorders, MYOCLONUS genetics, ELECTROPHYSIOLOGY
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5دورية أكاديمية
المؤلفون: Casciato, Sara, Gambardella, Stefano, Mascia, Addolorata, Quarato, Pier Paolo, D'Aniello, Alfredo, Ackurina, Yana, Albano, Veronica, Fornai, Francesco, Scala, Simona, Di Gennaro, Giancarlo
المصدر: International Journal of Neuroscience; Dec2017, Vol. 127 Issue 12, p1150-1153, 4p
مصطلحات موضوعية: MYOCLONUS genetics, GENETICS of epilepsy, EPILEPSY in adolescence, GENETICS
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6دورية أكاديمية
المؤلفون: Santos, Bruna Priscila dos, Marinho, Chiara Rachel Maciel, Marques, Thalita Ewellyn Batista Sales, Angelo, Layanne Kelly Gomes, Malta, Maísa Vieira da Silva, Gitaí, Daniel Leite Góes, Duzzioni, Marcelo, Castro, Olagide Wagner de, Leite, João Pereira, Barbosa, Fabiano Timbó
المصدر: PLoS ONE; 6/21/2017, Vol. 12 Issue 6, p1-17, 17p
مصطلحات موضوعية: GENETICS of disease susceptibility, MYOCLONUS, MYOCLONUS genetics, INFANTILE spasms, GENETIC polymorphisms, PATIENTS
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7دورية أكاديمية
المؤلفون: Macerollo, Antonella, Saifee, Tabish A., Kassavetis, Panagiotis, Pilurzi, Giovanna, Schneider, Susanne A., Edwards, Mark J., Bhatia, Kailash P.
المصدر: Movement Disorders Clinical Practice; Mar2015, Vol. 2 Issue 1, p49-52, 4p
مصطلحات موضوعية: MOVEMENT disorders, MYOCLONUS genetics, GENETIC disorder diagnosis, BRAIN stem physiology, REFLEX testing
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8دورية أكاديمية
المؤلفون: Ferlazzo, Edoardo, Canafoglia, Laura, Michelucci, Roberto, Gambardella, Antonio, Gennaro, Elena, Pasini, Elena, Riguzzi, Patrizia, Plasmati, Rosaria, Volpi, Lilia, Labate, Angelo, Gasparini, Sara, Villani, Flavio, Casazza, Marina, Viri, Maurizio, Zara, Federico, Minassian, Berge A., Turnbull, Julie, Serratosa, Jose M., Guerrero‐López, Rosa, Franceschetti, Silvana
المصدر: Epilepsia (Series 4); Dec2014, Vol. 55 Issue 12, pe129-e133, 5p
مصطلحات موضوعية: MYOCLONUS genetics, NEUROPHYSIOLOGY, GENETIC mutation, ELECTROENCEPHALOGRAPHY, AGE factors in disease
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9دورية أكاديمية
المؤلفون: Peall, Kathryn, Kurian, Manju, Wardle, Mark, Waite, Adrian, Hedderly, Tammy, Lin, Jean-Pierre, Smith, Martin, Whone, Alan, Pall, Hardev, White, Cathy, Lux, Andrew, Jardine, Philip, Lynch, Bryan, Kirov, George, O'Riordan, Sean, Samuel, Michael, Lynch, Timothy, King, Mary, Chinnery, Patrick, Warner, Thomas
المصدر: Journal of Neurology; Dec2014, Vol. 261 Issue 12, p2296-2304, 9p
مصطلحات موضوعية: MYOCLONUS genetics, MEDICAL genetics, DYSTONIA, GENETIC disorders, GENETIC mutation
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10دورية أكاديمية
المؤلفون: Henkin, Robert I., Potolicchio, Samuel J., Levy, Lucien M.
المصدر: Brain Sciences (2076-3425); Dec2013, Vol. 3 Issue 4, p1483-1553, 71p
مصطلحات موضوعية: HALLUCINATIONS, OTOLARYNGOLOGICAL practice, SMELL, MYOCLONUS genetics, TASTE, ELECTROENCEPHALOGRAPHY, VALSALVA'S maneuver, GABA, PHYSIOLOGY, IMMUNOLOGY