Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Sam N. Russo"'
Autor:
Sarah L. Stenton, Marketa Tesarova, Natalia L. Sheremet, Claudia B. Catarino, Valerio Carelli, Elżbieta Ciara, Kathryn Curry, Martin Engvall, Leah R. Fleming, Peter Freisinger, Katarzyna Iwanicka-Pronicka, Elżbieta Jurkiewicz, Thomas Klopstock, Mary K. Koenig, Hana Kolářová, Bohdan Kousal, Tatiana Krylova, Chiara La Morgia, Lenka Nosková, Dorota Piekutowska-Abramczuk, Sam N. Russo, Viktor Stránecký, Iveta Tóthová, Frank Träisk, Holger Prokisch
Publikováno v:
Brain 145, 1624-1631 (2022)
Brain 145(5), 1624-1631 (2022). doi:10.1093/brain/awac052
Brain 145(5), 1624-1631 (2022). doi:10.1093/brain/awac052
The recent description of biallelic DNAJC30 variants in Leber hereditary optic neuropathy (LHON) and Leigh syndrome challenged the longstanding assumption for LHON to be exclusively maternally inherited and broadened the genetic spectrum of Leigh syn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2bf87daded9ca23e3b2756c60479a76
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64376
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64376
Publikováno v:
Pediatrics in review. 42(Suppl 1)
1. Leigh A. Stubbs, MD, MPH* 2. Sam N. Russo, MD† 3. Baruch R. Goldberg, MD‡ 4. Ankur A. Kamdar, MD‡ 1. *Division of Community and General Pediatrics, 2. †Division of Neurology, Department of Pediatrics, 3. ‡Division of Pulmonary, Allergy,