Cikkek nyilvánosan hozzáférhető megbízással - Barbara GaravagliaTovábbi információ
ÖsszesenTelethonGovernment of ItalyMRCNIHWellcomeNIHREuropean CommissionDFGBMBFCIHRFondazione CariploNHMRCHelmholtzDMTGovernment of SpainGenome CanadaINSERMNWOCancer Research UKParkinson's UKZonMwFWONSERCAcademy of FinlandBBSRCMichael J Fox FoundationASAPParkinson's Foundation, USABrain Research, UKJules Thorn Trust, UK
Sehol sem hozzáférhető: 8
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
Megbízások: Canadian Institutes of Health Research
The “eye-of-the-tiger” sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration
L Chiapparini, M Savoiardo, S D’Arrigo, C Reale, G Zorzi, F Zibordi, ...
Neuropediatrics 42 (04), 159-162, 2011
Megbízások: Fondazione Telethon, Italy
Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients
C Lamperti, F Invernizzi, R Solazzi, E Freri, F Carella, M Zeviani, F Zibordi, ...
european journal of paediatric neurology 20 (1), 152-157, 2016
Megbízások: Fondazione Telethon, Italy, UK Medical Research Council
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
Megbízások: Research Foundation (Flanders)
ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome
G Straccia, C Reale, M Castellani, I Colangelo, E Orunesu, S Meoni, ...
Parkinsonism & related disorders 104, 3-6, 2022
Megbízások: German Research Foundation, European Commission, Federal Ministry of …
AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism
B Garavaglia, S Vallian, LM Romito, G Straccia, M Capecci, F Invernizzi, ...
Parkinsonism & Related Disorders 97, 52-56, 2022
Megbízások: German Research Foundation, Helmholtz Association
A novel GNAL pathogenic variant leading to generalized dystonia: Immediate and sustained response to globus pallidus internus deep brain stimulation
LM Romito, F Paio, NG Andreasi, C Panteghini, S Rinaldo, A Kaymak, ...
Parkinsonism & Related Disorders 115, 2023
Megbízások: US National Institutes of Health
Global metabolic profiling reveals metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations
L Strittmatter, V Leoni, G Zorzi, F Zibordi, S Dusi, B Garavaglia, P Venco, ...
Mitochondrion 12 (5), 577, 2012
Megbízások: US National Institutes of Health
Valahol hozzáférhető: 74
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
Megbízások: US National Institutes of Health, Fondazione Telethon, Italy
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
Megbízások: US National Institutes of Health, Fondazione Telethon, Italy, UK Medical …
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
Megbízások: Fondazione Telethon, Italy, UK Biotechnology and Biological Sciences …
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
Megbízások: UK Medical Research Council, Parkinson's UK, Wellcome Trust, Government of Spain
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
Megbízások: US National Institutes of Health, Fondazione Telethon, Italy
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
Megbízások: Netherlands Organisation for Scientific Research, UK Medical Research …
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
Megbízások: Fondazione Telethon, Italy, UK Medical Research Council, European Commission …
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
Megbízások: Dunhill Medical Trust, UK, UK Medical Research Council, National Institute …
MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder
G Heimer, JM Kerätär, LG Riley, S Balasubramaniam, E Eyal, ...
The American Journal of Human Genetics 99 (6), 1229-1244, 2016
Megbízások: US National Institutes of Health, National Health and Medical Research …
Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
D Steel, M Zech, C Zhao, KES Barwick, D Burke, D Demailly, KR Kumar, ...
Annals of neurology 88 (5), 867-877, 2020
Megbízások: National Health and Medical Research Council, Australia, Helmholtz …
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients
M Carecchio, NE Mencacci, A Iodice, R Pons, C Panteghini, G Zorzi, ...
Parkinsonism & related disorders 41, 37-43, 2017
Megbízások: UK Medical Research Council, National Institute for Health Research, UK …
Coenzyme A corrects pathological defects in human neurons of PANK 2‐associated neurodegeneration
DI Orellana, P Santambrogio, A Rubio, L Yekhlef, C Cancellieri, S Dusi, ...
EMBO molecular medicine 8 (10), 1197-1211, 2016
Megbízások: Fondazione Telethon, Italy, European Commission, Government of Italy
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