Articles with public access mandates - antonio federicoLearn more
Not available anywhere: 17
Apoptosis and oxidative stress in neurodegenerative diseases
E Radi, P Formichi, C Battisti, A Federico
Journal of Alzheimer's disease 42 (s3), S125-S152, 2014
Mandates: Government of Italy
Redefining phenotypes associated with mitochondrial DNA single deletion
M Mancuso, D Orsucci, C Angelini, E Bertini, V Carelli, GP Comi, ...
Journal of neurology 262, 1301-1309, 2015
Mandates: Fondazione Telethon, Italy
CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients
S Bianchi, E Zicari, A Carluccio, I Di Donato, F Pescini, S Nannucci, ...
Journal of neurology 262, 134-141, 2015
Mandates: Government of Italy
Two novel HTRA1 mutations in a European CARASIL patient
S Bianchi, C Di Palma, GN Gallus, I Taglia, A Poggiani, F Rosini, A Rufa, ...
Neurology 82 (10), 898-900, 2014
Mandates: Government of Italy
Heritable and non-heritable uncommon causes of stroke
A Bersano, M Kraemer, A Burlina, M Mancuso, J Finsterer, S Sacco, ...
Journal of neurology 268, 2780-2807, 2021
Mandates: National Institute for Health Research, UK
Influence of vascular risk factors and neuropsychological profile on functional performances in CADASIL: results from the MIcrovascular LEukoencephalopathy Study (MILES)
L Ciolli, F Pescini, E Salvadori, A Del Bene, G Pracucci, A Poggesi, ...
European Journal of Neurology 21 (1), 65-71, 2014
Mandates: Government of Italy
HTRA1 expression profile and activity on TGF‐β signaling in HTRA1 mutation carriers
A Fasano, P Formichi, I Taglia, S Bianchi, I Di Donato, C Battisti, ...
Journal of Cellular Physiology 235 (10), 7120-7127, 2020
Mandates: Government of Italy
Circulating biomarkers in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy patients
F Pescini, I Donnini, F Cesari, S Nannucci, R Valenti, V Rinnoci, ...
Journal of Stroke and Cerebrovascular Diseases 26 (4), 823-833, 2017
Mandates: Government of Italy
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI
ML Stromillo, A Malandrini, MT Dotti, M Battaglini, F Borgogni, A Tessa, ...
Journal of neurology 258, 2240-2247, 2011
Mandates: Fondazione Telethon, Italy
Cerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as presenting symptoms of PARK‐2
M Amboni, MT Pellecchia, A Cozzolino, M Picillo, C Vitale, P Barone, ...
Movement Disorders: Official Journal of the Movement Disorder Society 24 (2 …, 2009
Mandates: Research Foundation (Flanders)
Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial …
P Formichi, N Cardone, I Taglia, E Cardaioli, S Salvatore, AL Gerfo, ...
Neurological Sciences 41, 3653-3662, 2020
Mandates: Fondazione Telethon, Italy, Government of Italy
Hereditary spastic paraplegia type 11 with a very late onset
A Rubegni, E Storti, A Tessa, A Federico, FM Santorelli
Journal of neurology 262 (8), 1987-1989, 2015
Mandates: Government of Italy
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1
C Ticci, D Cassandrini, A Rubegni, B Riva, G Vattemi, S Matà, G Ricci, ...
Muscle & Nerve 64 (5), 567-575, 2021
Mandates: Fondazione Telethon, Italy, Government of Italy
Primary familial brain calcification caused by MYORG mutations in an Italian family
I Taglia, DJS Kuipers, GJ Breedveld, A Mignarri, MT Dotti, A Federico, ...
Parkinsonism & Related Disorders 67, 24-26, 2019
Mandates: European Commission, Netherlands Organisation for Health Research and …
Blood–brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations.
I Taglia, I Di Donato, N De Stefano, S Bianchi, P Galluzzi, A Federico, ...
European Journal of Neurology 25 (8), 2018
Mandates: Government of Italy
Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology
C Fallerini, G Carignani, G Capoccitti, A Federico, A Rufa, AM Pinto, ...
Journal of the Neurological Sciences 359 (1-2), 409-417, 2015
Mandates: Fondazione Telethon, Italy
Awareness of rare and genetic neurological diseases among italian neurologist. A national survey
M Mancuso, M Filosto, C Lamperti, O Musumeci, FM Santorelli, S Servidei, ...
Neurological Sciences 41, 1567-1570, 2020
Mandates: UK Medical Research Council
Available somewhere: 79
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and …
I Di Donato, S Bianchi, N De Stefano, M Dichgans, MT Dotti, M Duering, ...
BMC medicine 15, 1-12, 2017
Mandates: National Institute for Health Research, UK
The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe …
JW Rutten, BJ Van Eijsden, M Duering, E Jouvent, C Opherk, L Pantoni, ...
Genetics in Medicine 21 (3), 676-682, 2019
Mandates: National Institute for Health Research, UK
Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy
A Orr, MP Dube, J Marcadier, H Jiang, A Federico, S George, C Seamone, ...
PLoS One 2 (8), e685, 2007
Mandates: Genome Canada
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