| Genetic and phenotypic characterization of complex hereditary spastic paraplegia E Kara, A Tucci, C Manzoni, DS Lynch, M Elpidorou, C Bettencourt, ... Brain 139 (7), 1904-1918, 2016 | 215 | 2016 |
| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 187 | 2019 |
| Riboflavin responsive mitochondrial dysfunction in neurodegenerative diseases T Udhayabanu, A Manole, M Rajeshwari, P Varalakshmi, H Houlden, ... Journal of clinical medicine 6 (5), 52, 2017 | 108 | 2017 |
| Mutations in the neuronal vesicular SNARE VAMP2 affect synaptic membrane fusion and impair human neurodevelopment V Salpietro, NT Malintan, I Llano-Rivas, CG Spaeth, S Efthymiou, ... The American Journal of Human Genetics 104 (4), 721-730, 2019 | 89 | 2019 |
| Clinical, pathological and functional characterization of riboflavin-responsive neuropathy A Manole, Z Jaunmuktane, I Hargreaves, MHR Ludtmann, V Salpietro, ... Brain 140 (11), 2820-2837, 2017 | 79 | 2017 |
| Biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, lead to a degenerative pediatric stress-induced epileptic ataxia syndrome SG Ghosh, K Becker, H Huang, T Dixon-Salazar, G Chai, V Salpietro, ... The American Journal of Human Genetics 103 (3), 431-439, 2018 | 73 | 2018 |
| A homozygous loss‐of‐function mutation in PDE2A associated to early‐onset hereditary chorea V Salpietro, B Perez‐Dueñas, K Nakashima, V San Antonio‐Arce, ... Movement Disorders 33 (3), 482-488, 2018 | 61 | 2018 |
| Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome V Salpietro, W Lin, A Delle Vedove, M Storbeck, Y Liu, S Efthymiou, ... Annals of neurology 81 (4), 597-603, 2017 | 58 | 2017 |
| A loss‐of‐function homozygous mutation in DDX59 implicates a conserved DEAD‐box RNA helicase in nervous system development and function V Salpietro, S Efthymiou, A Manole, B Maurya, S Wiethoff, B Ashokkumar, ... Human Mutation 39 (2), 187-192, 2018 | 48 | 2018 |
| De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects A Manole, S Efthymiou, E O’Connor, MI Mendes, M Jennings, ... The American Journal of Human Genetics 107 (2), 311-324, 2020 | 43 | 2020 |
| Next-generation sequencing in neuromuscular diseases S Efthymiou, A Manole, H Houlden Current opinion in neurology 29 (5), 527-536, 2016 | 43 | 2016 |
| LETM 1 couples mitochondrial DNA metabolism and nutrient preference R Durigon, AL Mitchell, AWE Jones, A Manole, M Mennuni, EMA Hirst, ... EMBO Molecular Medicine 10 (9), e8550, 2018 | 37 | 2018 |
| The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders V Salpietro, M Zollo, J Vandrovcova, M Ryten, JA Botia, V Ferrucci, ... Brain 140 (8), e49-e49, 2017 | 36 | 2017 |
| Adrenaline induces calcium signal in astrocytes and vasoconstriction via activation of monoamine oxidase IN Novikova, A Manole, EA Zherebtsov, DD Stavtsev, MN Vukolova, ... Free Radical Biology and Medicine 159, 15-22, 2020 | 28 | 2020 |
| A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia TA Mestre, A Manole, H MacDonald, S Riazi, N Kraeva, MG Hanna, ... Neurogenetics 17, 245-249, 2016 | 27 | 2016 |
| A review of copy number variants in inherited neuropathies V Salpietro, A Manole, S Efthymiou, H Houlden Current genomics 19 (6), 412-419, 2018 | 26 | 2018 |
| Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease E Bugiardini, OV Poole, A Manole, AM Pittman, A Horga, I Hargreaves, ... Neurology: Genetics 3 (3), e149, 2017 | 24 | 2017 |
| Reduced synaptic activity and dysregulated extracellular matrix pathways in midbrain neurons from Parkinson’s disease patients S Stern, S Lau, A Manole, I Rosh, MM Percia, R Ben Ezer, MN Shokhirev, ... npj Parkinson's Disease 8 (1), 103, 2022 | 22 | 2022 |
| Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy E O’Connor, J Vandrovcova, E Bugiardini, V Chelban, A Manole, ... Journal of Neurology, Neurosurgery & Psychiatry 89 (11), 1230-1232, 2018 | 22 | 2018 |
| De novo KCNA2 mutations cause hereditary spastic paraplegia A Manole, R Mannikko, MG Hanna, DM Kullmann, H Houlden Annals of neurology 81 (2), 326-328, 2017 | 22 | 2017 |
