1. 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) ↗
2. Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features. (May 2020) Authors: Blumkin, Lubov; Leibovitz, Zvi; Krajden-Haratz, Karina; Arad, Ayala; Yosovich, Keren; Gindes, Liat; Zerem, Ayelet; Ben-Sira, Liat; Lev, Dorit; Nissenkorn, Andrea; Kidron, Dvora; Dobyns, William B.; Malinger, Gustavo; Bahi-Buisson, Nadia; Leventer, Richard J.; Lerman-Sagie, Tally Journal: European journal of paediatric neurology Issue: Volume 26(2020) Page Start: 46 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Brain white matter abnormalities associated with copy number variants. Issue 1 (17th October 2019) Authors: Vigdorovich, Nitzan; Ben‐Sira, Liat; Blumkin, Lubov; Precel, Ronit; Nezer, Ifat; Yosovich, Keren; Cross, Zachary; Vanderver, Adeline; Lev, Dorit; Lerman‐Sagie, Tally; Zerem, Ayelet Journal: American journal of medical genetics Issue: Volume 182:Issue 1(2020) Page Start: 93 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical phenotypes of infantile onset CACNA1A-related disorder. (January 2021) Authors: Gur-Hartman, Tamar; Berkowitz, Oren; Yosovich, Keren; Roubertie, Agathe; Zanni, Ginevra; Macaya, Alfons; Heimer, Gali; Dueñas, Belén Pérez; Sival, Deborah A.; Pode-Shakked, Ben; López-Laso, Eduardo; Humbertclaude, Véronique; Riant, Florence; Bosco, Luca; Cayron, Lital Bachar; Nissenkorn, Andreea;... Journal: European journal of paediatric neurology Issue: Volume 30(2021) Page Start: 144 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy. Issue 4 (23rd April 2018) Authors: Nakashima, Mitsuko; Kato, Mitsuhiro; Aoto, Kazushi; Shiina, Masaaki; Belal, Hazrat; Mukaida, Souichi; Kumada, Satoko; Sato, Atsushi; Zerem, Ayelet; Lerman‐Sagie, Tally; Lev, Dorit; Leong, Huey Yin; Tsurusaki, Yoshinori; Mizuguchi, Takeshi; Miyatake, Satoko; Miyake, Noriko; Ogata, Kazuhiro; Saitsu... Journal: Annals of neurology Issue: Volume 83:Issue 4(2018) Page Start: 794 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Dominantly Inherited Nonprogressive Cerebellar Hypoplasia Identified In Utero: No Doubt. (February 2013) Authors: Zerem, Ayelet; Hacohen, Yael; Ben-Sira, Liat; Lev, Dorit; Malinger, Gustavo; Lerman-Sagie, Tally Journal: Journal of child neurology Issue: Volume 28:Number 2(2013) Page Start: 279 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic. Issue 12 (December 2018) Authors: Hamanaka, Kohei; Miyatake, Satoko; Zerem, Ayelet; Lev, Dorit; Blumkin, Luba; Yokochi, Kenji; Fujita, Atsushi; Imagawa, Eri; Iwama, Kazuhiro; Nakashima, Mitsuko; Mitsuhashi, Satomi; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Saitsu, Hirotomo; Knaap, Marjo; Lerman-Sagie, Tally; Matsumoto,... Journal: Journal of human genetics Issue: Volume 63:Issue 12(2018) Page Start: 1223 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic. Issue 12 (December 2018) Authors: Hamanaka, Kohei; Miyatake, Satoko; Zerem, Ayelet; Lev, Dorit; Blumkin, Luba; Yokochi, Kenji; Fujita, Atsushi; Imagawa, Eri; Iwama, Kazuhiro; Nakashima, Mitsuko; Mitsuhashi, Satomi; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Saitsu, Hirotomo; Knaap, Marjo; Lerman-Sagie, Tally; Matsumoto,... Journal: Journal of human genetics Issue: Volume 63:Issue 12(2018) Page Start: 1223 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function. Issue 4 (14th January 2020) Authors: Rice, Gillian I.; Park, Sehoon; Gavazzi, Francesco; Adang, Laura A.; Ayuk, Loveline A.; Van Eyck, Lien; Seabra, Luis; Barrea, Christophe; Battini, Roberta; Belot, Alexandre; Berg, Stefan; Billette de Villemeur, Thierry; Bley, Annette E.; Blumkin, Lubov; Boespflug‐Tanguy, Odile; Briggs, Tracy A.; ... Journal: Human mutation Issue: Volume 41:Issue 4(2020) Page Start: 837 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗