| Promoting the clearance of neurotoxic proteins in neurodegenerative disorders of ageing B Boland, WH Yu, O Corti, B Mollereau, A Henriques, E Bezard, ... Nature reviews Drug discovery 17 (9), 660-688, 2018 | 444 | 2018 |
| Subjective cognitive decline and rates of incident Alzheimer's disease and non–Alzheimer's disease dementia RER Slot, SAM Sikkes, J Berkhof, H Brodaty, R Buckley, E Cavedo, ... Alzheimer's & Dementia 15 (3), 465-476, 2019 | 332 | 2019 |
| Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression F Mochel, P Charles, F Seguin, J Barritault, C Coussieu, L Perin, ... PloS one 2 (7), e647, 2007 | 281 | 2007 |
| Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance F Mochel, MA Knight, WH Tong, D Hernandez, K Ayyad, T Taivassalo, ... The American Journal of Human Genetics 82 (3), 652-660, 2008 | 247 | 2008 |
| Case definition and classification of leukodystrophies and leukoencephalopathies A Vanderver, M Prust, D Tonduti, F Mochel, HM Hussey, G Helman, ... Molecular genetics and metabolism 114 (4), 494-500, 2015 | 243 | 2015 |
| Energy deficit in Huntington disease: why it matters F Mochel, RG Haller The Journal of clinical investigation 121 (2), 493-499, 2011 | 234 | 2011 |
| Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia C Tesson, M Nawara, MAM Salih, R Rossignol, MS Zaki, M Al Balwi, ... The American Journal of Human Genetics 91 (6), 1051-1064, 2012 | 214 | 2012 |
| Cognitive and neuroimaging features and brain β-amyloidosis in individuals at risk of Alzheimer's disease (INSIGHT-preAD): a longitudinal observational study B Dubois, S Epelbaum, F Nyasse, H Bakardjian, G Gagliardi, ... The Lancet Neurology 17 (4), 335-346, 2018 | 201 | 2018 |
| Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia A Boukhris, R Schule, JL Loureiro, CM Lourenço, E Mundwiller, ... The American Journal of Human Genetics 93 (1), 118-123, 2013 | 183 | 2013 |
| An international classification of inherited metabolic disorders (ICIMD) CR Ferreira, S Rahman, M Keller, J Zschocke, ICIMD Advisory Group, ... Journal of inherited metabolic disease 44 (1), 164-177, 2021 | 171 | 2021 |
| Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy F Mochel, P DeLonlay, G Touati, H Brunengraber, RP Kinman, D Rabier, ... Molecular genetics and metabolism 84 (4), 305-312, 2005 | 156 | 2005 |
| Anaplerotic diet therapy in inherited metabolic disease: therapeutic potential CR Roe, F Mochel Journal of inherited metabolic disease 29 (2), 332-340, 2006 | 155 | 2006 |
| Adult polyglucosan body disease: natural history and key magnetic resonance imaging findings F Mochel, R Schiffmann, ME Steenweg, HO Akman, M Wallace, F Sedel, ... Annals of neurology 72 (3), 433-441, 2012 | 150 | 2012 |
| Plasma amyloid β 40/42 ratio predicts cerebral amyloidosis in cognitively normal individuals at risk for Alzheimer's disease A Vergallo, L Mégret, S Lista, E Cavedo, H Zetterberg, K Blennow, ... Alzheimer's & Dementia 15 (6), 764-775, 2019 | 141 | 2019 |
| Two‐site reproducibility of cerebellar and brainstem neurochemical profiles with short‐echo, single‐voxel MRS at 3T DK Deelchand, IM Adanyeguh, UE Emir, TM Nguyen, R Valabregue, ... Magnetic resonance in medicine 73 (5), 1718-1725, 2015 | 136 | 2015 |
| ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism R Desai, AE Frazier, R Durigon, H Patel, AW Jones, I Dalla Rosa, NJ Lake, ... Brain 140 (6), 1595-1610, 2017 | 135 | 2017 |
| Diagnosis, prognosis, and treatment of leukodystrophies MS van der Knaap, R Schiffmann, F Mochel, NI Wolf The Lancet Neurology 18 (10), 962-972, 2019 | 134 | 2019 |
| Early alterations of brain cellular energy homeostasis in Huntington disease models F Mochel, B Durant, X Meng, J O'Callaghan, H Yu, E Brouillet, ... Journal of Biological Chemistry 287 (2), 1361-1370, 2012 | 133 | 2012 |
| CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5 C Goizet, A Boukhris, A Durr, C Beetz, J Truchetto, C Tesson, ... Brain 132 (6), 1589-1600, 2009 | 133 | 2009 |
| A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies M Coutelier, G Coarelli, ML Monin, J Konop, CS Davoine, C Tesson, ... Brain 140 (6), 1579-1594, 2017 | 116 | 2017 |
