Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

166 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Severe retinal degeneration in a patient with Canavan disease.
Benson MD, Plemel DJA, Freund PR, Lewis JR, Sass JO, Bähr L, Gemperle-Britschgi C, Ferreira P, MacDonald IM. Benson MD, et al. Among authors: sass jo. Ophthalmic Genet. 2021 Feb;42(1):75-78. doi: 10.1080/13816810.2020.1827441. Epub 2020 Sep 25. Ophthalmic Genet. 2021. PMID: 32975148
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).
Vissers LE, Fano V, Martinelli D, Campos-Xavier B, Barbuti D, Cho TJ, Dursun A, Kim OH, Lee SH, Timpani G, Nishimura G, Unger S, Sass JO, Veltman JA, Brunner HG, Bonafé L, Dionisi-Vici C, Superti-Furga A. Vissers LE, et al. Among authors: sass jo. Am J Med Genet A. 2011 Nov;155A(11):2609-16. doi: 10.1002/ajmg.a.34325. Am J Med Genet A. 2011. PMID: 22025298
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity.
Jung R, Rauch A, Salomons GS, Verhoeven NM, Jakobs C, Michael Gibson K, Lachmann E, Sass JO, Trautmann U, Zweier C, Staatz G, Knerr I. Jung R, et al. Among authors: sass jo. Mol Genet Metab. 2006 Jul;88(3):256-60. doi: 10.1016/j.ymgme.2006.02.003. Epub 2006 Mar 20. Mol Genet Metab. 2006. PMID: 16545979
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
Rauschenberger K, Schöler K, Sass JO, Sauer S, Djuric Z, Rumig C, Wolf NI, Okun JG, Kölker S, Schwarz H, Fischer C, Grziwa B, Runz H, Nümann A, Shafqat N, Kavanagh KL, Hämmerling G, Wanders RJ, Shield JP, Wendel U, Stern D, Nawroth P, Hoffmann GF, Bartram CR, Arnold B, Bierhaus A, Oppermann U, Steinbeisser H, Zschocke J. Rauschenberger K, et al. Among authors: sass jo. EMBO Mol Med. 2010 Feb;2(2):51-62. doi: 10.1002/emmm.200900055. EMBO Mol Med. 2010. PMID: 20077426 Free PMC article.
The molecular basis of aminoacylase 1 deficiency.
Sommer A, Christensen E, Schwenger S, Seul R, Haas D, Olbrich H, Omran H, Sass JO. Sommer A, et al. Among authors: sass jo. Biochim Biophys Acta. 2011 Jun;1812(6):685-90. doi: 10.1016/j.bbadis.2011.03.005. Epub 2011 Mar 23. Biochim Biophys Acta. 2011. PMID: 21414403 Free article.
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Sass JO, Gemperle-Britschgi C, Tarailo-Graovac M, Patel N, Walter M, Jordanova A, Alfadhel M, Barić I, Çoker M, Damli-Huber A, Faqeih EA, García Segarra N, Geraghty MT, Jåtun BM, Kalkan Uçar S, Kriewitz M, Rauchenzauner M, Bilić K, Tournev I, Till C, Sayson B, Beumer D, Ye CX, Zhang LH, Vallance H, Alkuraya FS, van Karnebeek CD. Sass JO, et al. Mol Genet Metab. 2016 Sep;119(1-2):44-9. doi: 10.1016/j.ymgme.2016.07.008. Epub 2016 Jul 22. Mol Genet Metab. 2016. PMID: 27477828
d-Glycerate kinase deficiency in a neuropediatric patient.
Sass JO, Behringer S, Fernando M, Cesaroni E, Cursio I, Volpini A, Till C. Sass JO, et al. Brain Dev. 2020 Feb;42(2):226-230. doi: 10.1016/j.braindev.2019.11.008. Epub 2019 Dec 11. Brain Dev. 2020. PMID: 31837836
166 results