Research output per year
Research output per year
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Dive into the research topics where Ben Pode-Shakked is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events
Heimer, G., Pode-Shakked, B., Marek-Yagel, D., Vernitsky, H., Tzadok, M., Barel, O., Eyal, E., Ben-Zeev, B., Atzmon, G. & Anikster, Y., Feb 2025, In: Clinical Genetics. 107, 2, p. 179-187 9 p.Research output: Contribution to journal › Article › peer-review
Open Access -
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses
Ung, D. C., Pietrancosta, N., Badillo, E. B., Raux, B., Tapken, D., Zlatanovic, A., Doridant, A., Pode-Shakked, B., Raas-Rothschild, A., Elpeleg, O., Abu-Libdeh, B., Hamed, N., Papon, M. A., Marouillat, S., Thépault, R. A., Stevanin, G., Elegheert, J., Letellier, M., Hollmann, M. & Lambolez, B. & 4 others, , Apr 2024, In: Molecular Psychiatry. 29, 4, p. 1205-1215 11 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Reversal of Intestinal Failure With Teduglutide in PERCC1-Associated Enteropathy: A Case Report
Stenke, E., Dunne, C., Bryce-Smyth, A., Hurley, M., Pode-Shakked, B., Anikster, Y., Tan, T., Kowalka, A., Bech, P. & Bourke, B., 1 Aug 2024, In: Annals of Internal Medicine. 177, 8, p. 1141-1144 4 p.Research output: Contribution to journal › Letter › peer-review
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The natural history of dihydrolipoamide dehydrogenase deficiency in Israel
Pode-Shakked, B., Landau, Y. E., Shaul Lotan, N., Manor, J., Haham, N., Kristal, E., Hershkovitz, E., Hazan, G., Haham, Y., Almashanu, S., Anikster, Y. & Staretz-Chacham, O., Sep 2024, In: Journal of Inherited Metabolic Disease. 47, 5, p. 895-902 8 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
ARF1 -related disorder: Phenotypic and molecular spectrum
De Sainte Agathe, J. M., Pode-Shakked, B., Naudion, S., Michaud, V., Arveiler, B., Fergelot, P., Delmas, J., Keren, B., Poirsier, C., Alkuraya, F. S., Tabarki, B., Bend, E., Davis, K., Bebin, M., Thompson, M. L., Bryant, E. M., Wagner, M., Hannibal, I., Lenberg, J. & Krenn, M. & 29 others, , 1 Oct 2023, In: Journal of Medical Genetics. 60, 10, p. 999-1005 7 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations