1. A Possible Genotype-Phenotype Correlation in Ashkenazi-Jewish Individuals With Aicardi-Goutières Syndrome Associated With SAMHD1 Mutation. (March 2015) Authors: Straussberg, Rachel; Marom, Daphna; Sanado-Inbar, Esther; Lakovsky, Yaniv; Horev, Gadi; Shalev, Stavit A.; Lev, Dorit; Lerman-Sagie, Tally; Leshinsky-Silver, Esther Journal: Journal of child neurology Issue: Volume 30:Number 4(2015:Mar.) Page Start: 490 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep. (November 2015) Authors: Carmi, Nirit; Lev, Dorit; Leshinsky-Silver, Esther; Anikster, Yair; Blumkin, Lubov; Kivity, Sara; Lerman-Sagie, Tally; Zerem, Ayelet Journal: European journal of paediatric neurology Issue: Volume 19:Number 6(2015:Nov.) Page Start: 733 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Crowdfunding Effort Identifies the Causative Mutation in a Patient with Nystagmus, Microcephaly, Dystonia and Hypomyelination. Issue 2 (20th February 2015) Authors: Isakov, Ofer; Lev, Dorit; Blumkin, Lubov; Celniker, Gershon; Leshinsky-Silver, Esther; Shomron, Noam Journal: Journal of genetics and genomics Issue: Volume 42:Issue 2(2015:Feb.) Page Start: 79 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder. (July 2015) Authors: Blumkin, Lubov; Bradshaw, Teisha; Michelson, Marina; Kopler, Tal; Dahari, Dvir; Lerman-Sagie, Tally; Lev, Dorit; Chapple, J. Paul; Leshinsky-Silver, Esther Journal: European journal of paediatric neurology Issue: Volume 19:Number 4(2015:Jul.) Page Start: 472 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Painful small fiber neuropathy with gastroparesis: A new phenotype with a novel mutation in the SCN10A gene. (April 2016) Authors: Dabby, Ron; Sadeh, Menachem; Broitman, Yelena; Yosovich, Keren; Dickman, Ram; Leshinsky-Silver, Esther Journal: Journal of clinical neuroscience Issue: Volume 26(2016:Apr.) Page Start: 84 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A. (May 2015) Authors: Blumkin, Lubov; Leshinsky-Silver, Esther; Michelson, Marina; Zerem, Ayelet; Kivity, Sara; Lev, Dorit; Lerman-Sagie, Tally Journal: European journal of paediatric neurology Issue: Volume 19:Number 3(2015:May) Page Start: 292 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia. (May 2016) Authors: Nishri, Daniella; Goldberg-Stern, Hadassa; Noyman, Iris; Blumkin, Lubov; Kivity, Sara; Saitsu, Hirotomo; Nakashima, Mitsuko; Matsumoto, Naomichi; Leshinsky-Silver, Esther; Lerman-Sagie, Tally; Lev, Dorit Journal: European journal of paediatric neurology Issue: Volume 20:Number 3(2016:May) Page Start: 412 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients. (December 2016) Authors: Kuperberg, Maya; Lev, Dorit; Blumkin, Lubov; Zerem, Ayelet; Ginsberg, Mira; Linder, Ilan; Carmi, Nirit; Kivity, Sarah; Lerman-Sagie, Tally; Leshinsky-Silver, Esther Journal: Journal of child neurology Issue: Volume 31:Number 14(2016:Dec.) Page Start: 1534 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2). Issue 5 (27th February 2014) Authors: Feinstein, Miora; Flusser, Hagit; Lerman-Sagie, Tally; Ben-Zeev, Bruria; Lev, Dorit; Agamy, Orly; Cohen, Idan; Kadir, Rotem; Sivan, Sara; Leshinsky-Silver, Esther; Markus, Barak; Birk, Ohad S Journal: Journal of medical genetics Issue: Volume 51:Issue 5(2014) Page Start: 303 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗