Horvath R - Search Results

1

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.

McMacken G, Lochmüller H, Bansagi B, Pyle A, Lochmüller A, Chinnery PF, Laurie S, Beltran S, Matalonga L, Horvath R. McMacken G, et al. Among authors: horvath r. J Neurol. 2020 Dec;267(12):3643-3649. doi: 10.1007/s00415-020-10059-3. Epub 2020 Jul 12. J Neurol. 2020. PMID: 32656641 Free PMC article.

2

A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.

Abicht A, Stucka R, Karcagi V, Herczegfalvi A, Horváth R, Mortier W, Schara U, Ramaekers V, Jost W, Brunner J, Janssen G, Seidel U, Schlotter B, Müller-Felber W, Pongratz D, Rüdel R, Lochmüller H. Abicht A, et al. Among authors: horvath r. Neurology. 1999 Oct 22;53(7):1564-9. doi: 10.1212/wnl.53.7.1564. Neurology. 1999. PMID: 10534268

3

Leber's hereditary optic neuropathy presenting as multiple sclerosis-like disease of the CNS.

Horváth R, Abicht A, Shoubridge EA, Karcagi V, Rózsa C, Komoly S, Lochmüller H. Horváth R, et al. J Neurol. 2000 Jan;247(1):65-7. doi: 10.1007/s004150050015. J Neurol. 2000. PMID: 10701903 Review. No abstract available.

4

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.

Jaksch M, Horvath R, Horn N, Auer DP, Macmillan C, Peters J, Gerbitz KD, Kraegeloh-Mann I, Muntau A, Karcagi V, Kalmanchey R, Lochmuller H, Shoubridge EA, Freisinger P. Jaksch M, et al. Among authors: horvath r. Neurology. 2001 Oct 23;57(8):1440-6. doi: 10.1212/wnl.57.8.1440. Neurology. 2001. PMID: 11673586

5

A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract.

Jaksch M, Lochmuller H, Schmitt F, Volpel B, Obermaier-Kusser B, Horvath R. Jaksch M, et al. Among authors: horvath r. Neurology. 2001 Nov 27;57(10):1930-1. doi: 10.1212/wnl.57.10.1930. Neurology. 2001. PMID: 11723298 No abstract available.

6

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

7

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA).

Horváth R, Abicht A, Holinski-Feder E, Laner A, Gempel K, Prokisch H, Lochmüller H, Klopstock T, Jaksch M. Horváth R, et al. J Neurol Neurosurg Psychiatry. 2006 Jan;77(1):74-6. doi: 10.1136/jnnp.2005.067041. J Neurol Neurosurg Psychiatry. 2006. PMID: 16361598 Free PMC article.

8

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.

Hudson G, Keers S, Yu-Wai-Man P, Griffiths P, Huoponen K, Savontaus ML, Nikoskelainen E, Zeviani M, Carrara F, Horvath R, Karcagi V, Spruijt L, de Coo IF, Smeets HJ, Chinnery PF. Hudson G, et al. Among authors: horvath r. Am J Hum Genet. 2005 Dec;77(6):1086-91. doi: 10.1086/498176. Epub 2005 Oct 11. Am J Hum Genet. 2005. PMID: 16380918 Free PMC article.

9

Coenzyme Q10 deficiency and isolated myopathy.

Horvath R, Schneiderat P, Schoser BG, Gempel K, Neuen-Jacob E, Plöger H, Müller-Höcker J, Pongratz DE, Naini A, DiMauro S, Lochmüller H. Horvath R, et al. Neurology. 2006 Jan 24;66(2):253-5. doi: 10.1212/01.wnl.0000194241.35115.7c. Neurology. 2006. PMID: 16434667

10

Gentamicin treatment in McArdle disease: failure to correct myophosphorylase deficiency.

Schroers A, Kley RA, Stachon A, Horvath R, Lochmüller H, Zange J, Vorgerd M. Schroers A, et al. Among authors: horvath r. Neurology. 2006 Jan 24;66(2):285-6. doi: 10.1212/01.wnl.0000194212.31318.fc. Neurology. 2006. PMID: 16434679 No abstract available.

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