| PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron NV Morgan, SK Westaway, JEV Morton, A Gregory, P Gissen, S Sonek, ... Nature genetics 38 (7), 752-754, 2006 | 574 | 2006 |
| EFNS guidelines on diagnosis and treatment of primary dystonias A Albanese, F Asmus, KP Bhatia, AE Elia, B Elibol, G Filippini, T Gasser, ... European Journal of Neurology 18 (1), 5-18, 2011 | 572 | 2011 |
| Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA TB Haack, P Hogarth, MC Kruer, A Gregory, T Wieland, T Schwarzmayr, ... The American journal of human genetics 91 (6), 1144-1149, 2012 | 350 | 2012 |
| Age-related Iron Deposition in the Basal Ganglia: Quantitative Analysis in Healthy Subjects1 D Aquino, A Bizzi, M Grisoli, B Garavaglia, MG Bruzzone, N Nardocci, ... Radiology 252 (1), 165-172, 2009 | 333 | 2009 |
| Neurodegeneration associated with genetic defects in phospholipase A2 A Gregory, SK Westaway, IE Holm, PT Kotzbauer, P Hogarth, S Sonek, ... Neurology 71 (18), 1402-1409, 2008 | 305 | 2008 |
| Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation SJ Hayflick, MC Kruer, A Gregory, TB Haack, MA Kurian, HH Houlden, ... Brain 136 (6), 1708-1717, 2013 | 234 | 2013 |
| Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation MB Hartig, K Hörtnagel, B Garavaglia, G Zorzi, T Kmiec, T Klopstock, ... Annals of Neurology: Official Journal of the American Neurological …, 2006 | 204 | 2006 |
| Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation S Dusi, L Valletta, TB Haack, Y Tsuchiya, P Venco, S Pasqualato, ... The American Journal of Human Genetics 94 (1), 11-22, 2014 | 200 | 2014 |
| Homozygosity mapping of Hallervorden–Spatz syndrome to chromosome 20p12. 3–p13 TD Taylor, M Litt, P Kramer, M Pandolfo, L Angelini, N Nardocci, S Davis, ... Nature genetics 14 (4), 479-481, 1996 | 188 | 1996 |
| Autosomal recessive rolandic epilepsy with paroxysmal exercise‐induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12‐11.2 R Guerrini, P Bonanni, N Nardocci, L Parmeggiani, M Piccirilli, ... Annals of Neurology: Official Journal of the American Neurological …, 1999 | 187 | 1999 |
| Iron‐related MRI images in patients with pantothenate kinase–associated neurodegeneration (PKAN) treated with deferiprone: Results of a phase II pilot trial G Zorzi, F Zibordi, L Chiapparini, E Bertini, L Russo, A Piga, F Longo, ... Movement Disorders 26 (9), 1755-1759, 2011 | 164 | 2011 |
| Stimulation of the globus pallidus internus for childhood‐onset dystonia G Zorzi, C Marras, N Nardocci, A Franzini, L Chiapparini, E Maccagnano, ... Movement disorders: official journal of the Movement Disorder Society 20 (9 …, 2005 | 164 | 2005 |
| A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia NE Mencacci, I Rubio-Agusti, A Zdebik, F Asmus, MHR Ludtmann, ... The American Journal of Human Genetics 96 (6), 938-947, 2015 | 136 | 2015 |
| Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations V Leoni, L Strittmatter, G Zorzi, F Zibordi, S Dusi, B Garavaglia, P Venco, ... Molecular genetics and metabolism 105 (3), 463-471, 2012 | 132 | 2012 |
| Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria N Nardocci, G Zorzi, L Farina, S Binelli, W Scaioli, C Ciano, L Verga, ... Neurology 52 (7), 1472-1472, 1999 | 125 | 1999 |
| Hallervorden-Spatz disease: MR and pathologic findings. M Savoiardo, WC Halliday, N Nardocci, L Strada, L D'Incerti, L Angelini, ... American journal of neuroradiology 14 (1), 155-162, 1993 | 125 | 1993 |
| High prevalence of antiphospholipid antibodies in children with idiopathic cerebral ischemia L Angelini, A Ravelli, R Caporali, V Rumi, N Nardocci, A Martini Pediatrics 94 (4), 500-503, 1994 | 122 | 1994 |
| Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study T Klopstock, F Tricta, L Neumayr, I Karin, G Zorzi, C Fradette, T Kmieć, ... The Lancet Neurology 18 (7), 631-642, 2019 | 120 | 2019 |
| De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions NE Mencacci, EJ Kamsteeg, K Nakashima, L R’Bibo, DS Lynch, B Balint, ... The American Journal of Human Genetics 98 (4), 763-771, 2016 | 120 | 2016 |
| Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life L Angelini, N Nardocci, V Rumi, C Zorzi, L Strada, M Savoiardo Journal of neurology 239, 417-425, 1992 | 115 | 1992 |
