| Treatment for mitochondrial disorders G Pfeffer, K Majamaa, DM Turnbull, D Thorburn, PF Chinnery Cochrane Database of Systematic Reviews, 2012 | 462 | 2012 |
| Fibroblast growth factor (FGF) 18 signals through FGF receptor 3 to promote chondrogenesis D Davidson, A Blanc, D Filion, H Wang, P Plut, G Pfeffer, MD Buschmann, ... Journal of Biological Chemistry 280 (21), 20509-20515, 2005 | 337 | 2005 |
| New treatments for mitochondrial disease—no time to drop our standards G Pfeffer, R Horvath, T Klopstock, VK Mootha, A Suomalainen, S Koene, ... Nature Reviews Neurology 9 (8), 474-481, 2013 | 198 | 2013 |
| Diagnosis and treatment of mitochondrial myopathies G Pfeffer, PF Chinnery Annals of medicine 45 (1), 4-16, 2013 | 182 | 2013 |
| Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance G Pfeffer, GS Gorman, H Griffin, M Kurzawa-Akanbi, EL Blakely, I Wilson, ... Brain 137 (5), 1323-1336, 2014 | 176 | 2014 |
| Exome sequencing in undiagnosed inherited and sporadic ataxias A Pyle, T Smertenko, D Bargiela, H Griffin, J Duff, M Appleton, ... Brain 138 (2), 276-283, 2015 | 158 | 2015 |
| Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations G Pfeffer, A Burke, P Yu-Wai-Man, DAS Compston, PF Chinnery Neurology 81 (24), 2073-2081, 2013 | 139 | 2013 |
| Titin mutation segregates with hereditary myopathy with early respiratory failure G Pfeffer, HR Elliott, H Griffin, R Barresi, J Miller, J Marsh, A Evilä, ... Brain 135 (6), 1695-1713, 2012 | 133 | 2012 |
| SPG7 mutations are a common cause of undiagnosed ataxia G Pfeffer, A Pyle, H Griffin, J Miller, V Wilson, L Turnbull, K Fawcett, ... Neurology 84 (11), 1174-1176, 2015 | 124 | 2015 |
| Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure G Pfeffer, R Barresi, IJ Wilson, SA Hardy, H Griffin, J Hudson, HR Elliott, ... Journal of Neurology, Neurosurgery & Psychiatry 85 (3), 331-338, 2014 | 89 | 2014 |
| Systematic review of the clinical spectrum of CASPR2 antibody syndrome M Boyko, KLK Au, C Casault, P de Robles, G Pfeffer Journal of Neurology 267, 1137-1146, 2020 | 73 | 2020 |
| Multisystem disorder in late-onset chronic progressive external ophthalmoplegia G Pfeffer, S Sirrs, NK Wade, MM Mezei Canadian journal of neurological sciences 38 (1), 119-123, 2011 | 72 | 2011 |
| Diagnosis of muscle diseases presenting with early respiratory failure G Pfeffer, M Povitz, GJ Gibson, PF Chinnery Journal of Neurology 262, 1101-1114, 2015 | 69 | 2015 |
| Emerging therapies for mitochondrial disorders H Nightingale, G Pfeffer, D Bargiela, R Horvath, PF Chinnery Brain 139 (6), 1633-1648, 2016 | 65 | 2016 |
| Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations G Pfeffer, EL Blakely, CL Alston, A Hassani, M Boggild, R Horvath, ... Journal of Neurology, Neurosurgery & Psychiatry 83 (9), 883-886, 2012 | 61 | 2012 |
| Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28 GS Gorman, G Pfeffer, H Griffin, EL Blakely, M Kurzawa-Akanbi, J Gabriel, ... JAMA neurology 72 (1), 106-111, 2015 | 51 | 2015 |
| Ophthalmoplegia and ptosis: mitochondrial toxicity in patients receiving HIV therapy G Pfeffer, HCF Côté, JS Montaner, CC Li, M Jitratkosol, MM Mezei Neurology 73 (1), 71, 2009 | 49 | 2009 |
| Respiratory management of patients with neuromuscular disease: current perspectives G Pfeffer, M Povitz Degenerative Neurological and Neuromuscular Disease, 111-118, 2016 | 45 | 2016 |
| Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis G Pfeffer, G Lee, CS Pontifex, RD Fanganiello, A Peck, CC Weihl, ... Genes 13 (6), 963, 2022 | 41 | 2022 |
| The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy W Almutawa, C Smith, R Sabouny, RB Smit, T Zhao, R Wong, ... EBioMedicine 45, 379-392, 2019 | 40 | 2019 |
