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

50 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Isolated cytochrome c oxidase deficiency as a cause of MELAS.
Rossmanith W, Freilinger M, Roka J, Raffelsberger T, Moser-Thier K, Prayer D, Bernert G, Bittner RE. Rossmanith W, et al. Among authors: freilinger m. J Med Genet. 2008 Feb;45(2):117-21. doi: 10.1136/jmg.2007.052076. J Med Genet. 2008. PMID: 18245391
Isolated cytochrome c oxidase deficiency as a cause of MELAS.
Rossmanith W, Freilinger M, Roka J, Raffelsberger T, Moser-Their K, Prayer D, Bernert G, Bittner R. Rossmanith W, et al. Among authors: freilinger m. BMJ Case Rep. 2009;2009:bcr08.2008.0666. doi: 10.1136/bcr.08.2008.0666. Epub 2009 Jan 23. BMJ Case Rep. 2009. PMID: 21686692 Free PMC article.
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
Löscher WN, Huemer M, Stulnig TM, Simschitz P, Iglseder S, Eggers C, Moser H, Möslinger D, Freilinger M, Lagler F, Grinzinger S, Reichhardt M, Bittner RE, Schmidt WM, Lex U, Brunner-Krainz M, Quasthoff S, Wanschitz JV. Löscher WN, et al. Among authors: freilinger m. J Neurol. 2018 Jan;265(1):159-164. doi: 10.1007/s00415-017-8686-6. Epub 2017 Nov 27. J Neurol. 2018. PMID: 29181627 Free PMC article.
A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.
Bader I, Freilinger M, Landauer F, Waldmüller S, Mueller-Felber W, Rauscher C, Sperl W, Bittner RE, Schmidt WM, Mayr JA. Bader I, et al. Among authors: freilinger m. Orphanet J Rare Dis. 2022 Jul 19;17(1):279. doi: 10.1186/s13023-022-02421-7. Orphanet J Rare Dis. 2022. PMID: 35854315 Free PMC article. Review.
50 results