| 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 |
| The relevance of gender in Parkinson’s disease: a review M Picillo, A Nicoletti, V Fetoni, B Garavaglia, P Barone, MT Pellecchia Journal of neurology 264, 1583-1607, 2017 | 247 | 2017 |
| Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein V Tiranti, P D’Adamo, E Briem, G Ferrari, R Mineri, E Lamantea, H Mandel, ... The American Journal of Human Genetics 74 (2), 239-252, 2004 | 237 | 2004 |
| 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 |
| Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians D Ghezzi, C Marelli, A Achilli, S Goldwurm, G Pezzoli, P Barone, ... European Journal of Human Genetics 13 (6), 748-752, 2005 | 231 | 2005 |
| 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 |
| 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 |
| Carnitine stimulation of pyruvate dehydrogenase complex (PDHC) in isolated human skeletal muscle mitochondria G Uziel, B Garavaglia, S Di Donato Muscle & Nerve: Official Journal of the American Association of …, 1988 | 158 | 1988 |
| 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 |
| 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 |
| New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies A Legati, A Reyes, A Nasca, F Invernizzi, E Lamantea, V Tiranti, ... Biochimica et Biophysica Acta (BBA)-Bioenergetics 1857 (8), 1326-1335, 2016 | 117 | 2016 |
| Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency S Di Donato, M Rimoldi, B Garavaglia, G Uziel Clinica chimica acta 139 (1), 13-21, 1984 | 112 | 1984 |
| Late‐onset riboflavin‐responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency C Antozzi, B Garavaglia, M Mora, M Rimoldi, L Morandi, E Ursino, ... Neurology 44 (11), 2153-2153, 1994 | 109 | 1994 |
| PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum R Marongiu, A Ferraris, T Ialongo, S Michiorri, F Soleti, F Ferrari, AE Elia, ... Human mutation 29 (4), 565-565, 2008 | 98 | 2008 |
| Phenotype and genotype variation in primary carnitine deficiency Y Wang, SH Korman, J Ye, JJ Gargus, A Gutman, F Taroni, B Garavaglia, ... Genetics in Medicine 3 (6), 387-392, 2001 | 97 | 2001 |
| Myoclonus–dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families N Nardocci, G Zorzi, C Barzaghi, F Zibordi, C Ciano, D Ghezzi, ... Movement disorders 23 (1), 28-34, 2008 | 96 | 2008 |
| Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype–phenotype correlation Y Wang, F Taroni, B Garavaglia, N Longo Human mutation 16 (5), 401-407, 2000 | 90 | 2000 |
Alberto AlbaneseProfessore di neurologiaVerified email at unicatt.it
