Multidrug Resistant Pseudomonas Mycotic Pseudoaneurysm following Cardiac Transplant Bridged by Ventricular Assistant Device

por Aye, C., Williams, M., Horvath, R.
Publicado 2017

Single-cell adhesivity distribution of glycocalyx digested cancer cells from high spatial resolution label-free biosensor measurements

por Kanyo, N., Kovács, K.D., Kovács, S.V., Béres, B., Peter, B., Székács, I., Horvath, R.
Publicado 2022

Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum

por Lühl, S., Bode, H., Schlötzer, W., Bartsakoulia, M., Horvath, R., Abicht, A., Stenzel, M., Kirschner, J., Grünert, S. C.
Publicado 2016

Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and im...

por Müller-Höcker, J, Horvath, R, Schäfer, S, Hessel, H, Müller-Felber, W, Kühr, J, Copeland, W C, Seibel, P
Publicado 2011

Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy

por Lewis-Smith, D.J., Duff, J., Pyle, A., Griffin, H., Polvikoski, T., Birchall, D., Horvath, R., Chinnery, P.F.
Publicado 2016

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia

por Keogh, M. J., Steele, H., Douroudis, K., Pyle, A., Duff, J., Hussain, R., Smertenko, T., Griffin, H., Santibanez-Koref, M., Horvath, R., Chinnery, P. F.
Publicado 2015

Initial development and validation of a mitochondrial disease quality of life scale

por Elson, J.L., Cadogan, M., Apabhai, S., Whittaker, R.G., Phillips, A., Trennell, M.I., Horvath, R., Taylor, R.W., McFarland, R., McColl, E., Turnbull, D.M., Gorman, G.S.
Publicado 2013

Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease

por Boczonadi, V., King, M. S., Smith, A. C., Olahova, M., Bansagi, B., Roos, A., Eyassu, F., Borchers, C., Ramesh, V., Lochmüller, H., Polvikoski, T., Whittaker, R. G., Pyle, A., Griffin, H., Taylor, R. W., Chinnery, P. F., Robinson, A. J., Kunji, E. R. S., Horvath, R.
Publicado 2019

Multi-system neurological disease is common in patients with OPA1 mutations

por Yu-Wai-Man, P., Griffiths, P.G., Gorman, G.S., Lourenco, C.M., Wright, A.F., Auer-Grumbach, M., Toscano, A., Musumeci, O., Valentino, M.L., Caporali, L., Lamperti, C., Tallaksen, C.M., Duffey, P., Miller, J., Whittaker, R.G., Baker, M.R., Jackson, M.J., Clarke, M.P., Dhillon, B., Czermin, B., Stewart, J.D., Hudson, G., Reynier, P., Bonneau, D., Marques, W., Lenaers, G., McFarland, R., Taylor, R.W., Turnbull, D.M., Votruba, M., Zeviani, M., Carelli, V., Bindoff, L.A., Horvath, R., Amati-Bonneau, P., Chinnery, P.F.
Publicado 2010