Mitochondria: Impaired mitochondrial translation in human disease

por Boczonadi, Veronika, Horvath, Rita
Publicado 2014

Amyloid‐β in mitochondrial disease: mutation in a human metallopeptidase links amyloidotic neurodegeneration with mitochondrial processing

por Boczonadi, Veronika, Horvath, Rita
Publicado 2016

Modelling Charcot-Marie-Tooth disease in a dish reveals common cell type-specific alterations

por Müller, Juliane S, Horvath, Rita
Publicado 2021

Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological Diseases

por Müller, Juliane S., Giunta, Michele, Horvath, Rita
Publicado 2015

Mitochondrial DNA transcription and translation: clinical syndromes

por Boczonadi, Veronika, Ricci, Giulia, Horvath, Rita
Publicado 2018

Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok (−/−) zebrafish

por Munro, Benjamin, Horvath, Rita, Müller, Juliane S
Publicado 2019

Ascertaining the Career Intentions of Medical Students (AIMS) in the United Kingdom Post Graduation: Protocol for a Mixed Methods Study

por Ferreira, Tomas, Collins, Alexander M, Horvath, Rita
Publicado 2023

The role of tRNA synthetases in neurological and neuromuscular disorders

por Boczonadi, Veronika, Jennings, Matthew J., Horvath, Rita
Publicado 2018

Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease

por O’Connor, Kaela, Spendiff, Sally, Lochmüller, Hanns, Horvath, Rita
Publicado 2023

Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a ‘treatabolome’

por Jennings, Matthew J., Lochmüller, Angela, Atalaia, Antonio, Horvath, Rita
Publicado 2021

Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNA

por Gardner, Kristian, Payne, Brendan AI, Horvath, Rita, Chinnery, Patrick F
Publicado 2015

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

por Pfeffer, Gerald, Griffin, Helen, Pyle, Angela, Horvath, Rita, Chinnery, Patrick F.
Publicado 2014

Emerging therapies for mitochondrial disorders

por Nightingale, Helen, Pfeffer, Gerald, Bargiela, David, Horvath, Rita, Chinnery, Patrick F.
Publicado 2016

Monitoring clinical progression with mitochondrial disease biomarkers

por Steele, Hannah E, Horvath, Rita, Lyon, Jon J, Chinnery, Patrick F
Publicado 2017

Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment

por McMacken, Grace, Whittaker, Roger G., Wake, Ruth, Lochmuller, Hanns, Horvath, Rita
Publicado 2023

Career intentions of medical students in the UK: a national, cross-sectional study (AIMS study)

por Ferreira, Tomas, Collins, Alexander M, Feng, Oliver, Samworth, Richard J, Horvath, Rita
Publicado 2023

Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients

por Kölbel, Heike, Hathazi, Denisa, Jennings, Matthew, Horvath, Rita, Roos, Andreas, Schara, Ulrike
Publicado 2019

Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a ‘Treatabolome’

por Tiet, May Yung, Lin, Zhiyuan, Gao, Fei, Jennings, Matthew James, Horvath, Rita
Publicado 2021

Prevalence of neurogenetic disorders in the North of England

por Bargiela, David, Yu-Wai-Man, Patrick, Keogh, Michael, Horvath, Rita, Chinnery, Patrick F.
Publicado 2015

Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts

por Sitarz, Kamil S., Elliott, Hannah R., Karaman, Betül S., Relton, Caroline, Chinnery, Patrick F., Horvath, Rita
Publicado 2014