1. A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulation. Issue 10 (3rd October 2021) Authors: Tamim-Yecheskel, Bat-Chen; Fraiberg, Milana; Kokabi, Kamilya; Freud, Saskia; Shatz, Oren; Marvaldi, Letizia; Subic, Nemanja; Brenner, Ori; Tsoory, Michael; Eilam-Altstadter, Raya; Biton, Inbal; Savidor, Alon; Dezorella, Nili; Heimer, Gali; Behrends, Christian; Ben-Zeev, Bruria; Elazar, Zvulun Journal: Autophagy Issue: Volume 17:Issue 10(2021) Page Start: 3082 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Bi-allelic mutations in DNAJC12 cause hyperphenylalaninemia, neurotransmitter deficiencies, dystonia and intellectual disability. (June 2017) Authors: Schiff, Manuel; Haack, Tobias; Vilboux, Thierry; Pode-Shakked, Ben; Thöny, Beat; Shen, Nan; Guarani, Virginia; Meissner, Thomas; Mayatepek, Ertan; Trefz, Friedrich K.; Martinez, Aurora; Benoist, Jean-François; Heimer, Gali; Malicdan, May Christine V.; Ben-Zeev, Bruria; Blau, Nenad; Hoffmann, Geor... Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e175 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CAOS—Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene. (November 2015) Authors: Heimer, Gali; Sadaka, Yair; Israelian, Lori; Feiglin, Ariel; Ruggieri, Alessandra; Marshall, Christian R.; Scherer, Stephen W.; Ganelin-Cohen, Esther; Marek-Yagel, Dina; Tzadok, Michal; Nissenkorn, Andreea; Anikster, Yair; Minassian, Berge A.; Zeev, Bruria Ben Journal: Journal of child neurology Issue: Volume 30:Number 13(2015:Nov.) Page Start: 1749 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. Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability. Issue 6 (11th May 2021) Authors: Neuser, Sonja; Brechmann, Barbara; Heimer, Gali; Brösse, Ines; Schubert, Susanna; O'Grady, Lauren; Zech, Michael; Srivastava, Siddharth; Sweetser, David A.; Dincer, Yasemin; Mall, Volker; Winkelmann, Juliane; Behrends, Christian; Darras, Basil T.; Graham, Robert J.; Jayakar, Parul; Byrne, Barry; ... Journal: Human mutation Issue: Volume 42:Issue 6(2021) Page Start: 762 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal infantile encephalopathy. (June 2017) Authors: Ben-Zeev, Bruria; Barel, Ortal; Malicdan, May Christine; Atawa, Osama; Cohen Ganelin, Et; Heimer, Gali; Nissenkorn, Andreea; Hoffman, Chen; Kandel, Judith; Schrader, Michael; Eckmann, David M.; Anikster, Yair Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families. (May 2021) Authors: Fattal-Valevski, Aviva; Ben Sira, Liat; Lerman-Sagie, Tally; Strausberg, Rachel; Bloch-Mimouni, Aviva; Edvardson, Simon; Kaufman, Rami; Chernuha, Veronika; Schneebaum Sender, Nira; Heimer, Gali; Ben Zeev, Bruria Journal: European journal of paediatric neurology Issue: Volume 32(2021) Page Start: 40 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Functional parameter measurements in children with ataxia telangiectasia. (30th August 2019) Authors: Shenhod, Efrat; Benzeev, Bruria; Sarouk, Ifat; Heimer, Gali; Nissenkorn, Andreea Journal: Developmental medicine & child neurology Issue: Volume 62:Number 2(2020) Page Start: 207 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. In the eye of the beholder: Using a multiple-informant approach to examine the mediating effect of cognitive functioning on emotional and behavioral problems in children with an active epilepsy. (November 2020) Authors: Silberg, Tamar; Ahoniska-Assa, Jaana; Bord, Ayelet; Levav, Miram; Polack, Orli; Tzadok, Michal; Heimer, Gali; Bar-Yosef, Omer; Geva, Ronny; Ben-Zeev, Bruria Journal: Seizure Issue: Volume 82(2020) Page Start: 31 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Influence of epileptic activity during sleep on cognitive performance in benign childhood epilepsy with centrotemporal spikes. (November 2017) Authors: Nissenkorn, Andreea; Pappo, Adi; Feldmann, Yael; Heimer, Gali; Bar-Yosef, Omer; Tzadok, Michal; Polack, Orli; Bord, Ayelet; Levav, Miriam; Ben-Zeev, Bruria Journal: European journal of paediatric neurology Issue: Volume 21:Number 6(2017:Nov.) Page Start: 858 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗