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

739 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.
Balaraju S, Töpf A, McMacken G, Kumar VP, Pechmann A, Roper H, Vengalil S, Polavarapu K, Nashi S, Mahajan NP, Barbosa IA, Deshpande C, Taylor RW, Cossins J, Beeson D, Laurie S, Kirschner J, Horvath R, McFarland R, Nalini A, Lochmüller H. Balaraju S, et al. Among authors: horvath r. Eur J Hum Genet. 2020 Mar;28(3):373-377. doi: 10.1038/s41431-019-0506-2. Epub 2019 Sep 16. Eur J Hum Genet. 2020. PMID: 31527857 Free PMC article.
Risk of developing a mitochondrial DNA deletion disorder.
Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JN, Turnbull DM. Chinnery PF, et al. Among authors: horvath r. Lancet. 2004 Aug 14-20;364(9434):592-6. doi: 10.1016/S0140-6736(04)16851-7. Lancet. 2004. PMID: 15313359
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF. Horvath R, et al. Brain. 2006 Jul;129(Pt 7):1674-84. doi: 10.1093/brain/awl088. Epub 2006 Apr 18. Brain. 2006. PMID: 16621917
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.
Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmüller H, Hübner C, Mundlos S. Hoffmann K, et al. Among authors: horvath r. Am J Hum Genet. 2006 Aug;79(2):303-12. doi: 10.1086/506257. Epub 2006 Jun 20. Am J Hum Genet. 2006. PMID: 16826520 Free PMC article.
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
Gempel K, Topaloglu H, Talim B, Schneiderat P, Schoser BG, Hans VH, Pálmafy B, Kale G, Tokatli A, Quinzii C, Hirano M, Naini A, DiMauro S, Prokisch H, Lochmüller H, Horvath R. Gempel K, et al. Among authors: horvath r. Brain. 2007 Aug;130(Pt 8):2037-44. doi: 10.1093/brain/awm054. Epub 2007 Apr 5. Brain. 2007. PMID: 17412732 Free PMC article.
739 results