Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C

by Shiri Curelaru, Yoav Zehavi, Tal Almagor, Ronen Spiegel
Published 2021-06-01

Campylobacter gastroenteritis in children in north-eastern Israel comparison with other common pathogens

by Waheeb Sakran, Zufit Hexner-Erlichman, Ronen Spiegel, Hamed Batheesh, Raphael Halevy, Ariel Koren
Published 2020-04-01

Generation and characterization of iPSC lines from two nuclear envelopathy patients with a homozygous nonsense mutation in the TOR1AIP1 gene

by Yam Ben-Haim, Leah Armon, Boris Fichtman, Irina Epshtein, Ronen Spiegel, Amnon Harel, Achia Urbach
Published 2021-10-01

Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy

by Boris Fichtman, Fadia Zagairy, Nitzan Biran, Yiftah Barsheshet, Elena Chervinsky, Ziva Ben Neriah, Avraham Shaag, Michael Assa, Orly Elpeleg, Amnon Harel, Ronen Spiegel
Published 2019-02-01

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency.

by Lucia Abela, Ronen Spiegel, Lisa M Crowther, Andrea Klein, Katharina Steindl, Sorina Mihaela Papuc, Pascal Joset, Yoav Zehavi, Anita Rauch, Barbara Plecko, Thomas Luke Simmons
Published 2017-01-01

The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel

by Eyal Kristal, Ben Pode-Shakked, Guy Hazan, Ehud Banne, Galina Ling, Odeya David, Eilon Shany, Annick Raas-Rothschild, Yair Anikster, Katya Kneller, Eli Hershkovitz, Yuval E. Landau, Ronen Spiegel, Yoav Zehavi, Orna Staretz-Chacham
Published 2021-09-01

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

by Aleksandra Siekierska, Hannah Stamberger, Tine Deconinck, Stephanie N. Oprescu, Michèle Partoens, Yifan Zhang, Jo Sourbron, Elias Adriaenssens, Patrick Mullen, Patrick Wiencek, Katia Hardies, Jeong-Soo Lee, Hoi-Khoanh Giong, Felix Distelmaier, Orly Elpeleg, Katherine L. Helbig, Joseph Hersh, Sedat Isikay, Elizabeth Jordan, Ender Karaca, Angela Kecskes, James R. Lupski, Reka Kovacs-Nagy, Patrick May, Vinodh Narayanan, Manuela Pendziwiat, Keri Ramsey, Sampathkumar Rangasamy, Deepali N. Shinde, Ronen Spiegel, Vincent Timmerman, Sarah von Spiczak, Ingo Helbig, C4RCD Research Group, AR working group of the EuroEPINOMICS RES Consortium, Sarah Weckhuysen, Christopher Francklyn, Anthony Antonellis, Peter de Witte, Peter De Jonghe
Published 2019-02-01