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

65 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency.
Dorninger F, Kiss A, Rothauer P, Stiglbauer-Tscholakoff A, Kummer S, Fallatah W, Perera-Gonzalez M, Hamza O, König T, Bober MB, Cavallé-Garrido T, Braverman NE, Forss-Petter S, Pifl C, Bauer J, Bittner RE, Helbich TH, Podesser BK, Todt H, Berger J. Dorninger F, et al. Among authors: bittner re. Int J Mol Sci. 2023 Jan 18;24(3):1884. doi: 10.3390/ijms24031884. Int J Mol Sci. 2023. PMID: 36768204 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: bittner re. 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.
Impaired muscle spindle function in murine models of muscular dystrophy.
Gerwin L, Rossmanith S, Haupt C, Schultheiß J, Brinkmeier H, Bittner RE, Kröger S. Gerwin L, et al. Among authors: bittner re. J Physiol. 2020 Apr;598(8):1591-1609. doi: 10.1113/JP278563. Epub 2020 Feb 21. J Physiol. 2020. PMID: 32003874 Free article.
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
Rahikkala E, Myllykoski M, Hinttala R, Vieira P, Nayebzadeh N, Weiss S, Plomp AS, Bittner RE, Kurki MI, Kuismin O, Lewis AM, Väisänen ML, Kokkonen H, Westermann J, Bernert G, Tuominen H, Palotie A, Aaltonen L, Yang Y, Potocki L, Moilanen J, van Koningsbruggen S, Wang X, Schmidt WM, Koivunen P, Uusimaa J. Rahikkala E, et al. Among authors: bittner re. Genet Med. 2019 Oct;21(10):2355-2363. doi: 10.1038/s41436-019-0503-4. Epub 2019 Apr 3. Genet Med. 2019. PMID: 30940925 Free PMC article.
65 results