Artikelen met mandaten voor openbare toegang - Vincenzo NigroMeer informatie
TotaalTelethonGovernment of ItalyEuropean CommissionNIHMRCWellcomeNIHRGovernment of SpainDFGAcademy of FinlandNHMRCZonMwBMBFCIHRDSTANRAIRC Foundation for Cancer Research in ItalyNSFSNSFINSERMNWOBHFFAPESPHHMIFWFFWOFRQSNSERCNSFCHelmholtzHRBKnut and Alice Wallenberg FoundationBBSRCCancer Research UKFondazione CariploFNRMichael J Fox FoundationCitizen’s United for Research in EpilepsyCZI
Nergens beschikbaar: 11
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis
A Grandone, A Torella, C Santoro, T Giugliano, F Del Vecchio Blanco, ...
Clinical Genetics 90 (5), 445-450, 2016
Mandaten: Fondazione Telethon, Italy
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation
M Iacomino, C Fiorillo, A Torella, M Severino, P Broda, C Romano, ...
european journal of paediatric neurology 22 (3), 541-543, 2018
Mandaten: Government of Italy
Familial polyglucosan body myopathy with unusual phenotype.
M Fanin, AC Nascimbeni, M Savarese, V Papa, G Cenacchi, V Nigro, ...
Neuropathology & Applied Neurobiology 41 (3), 2015
Mandaten: Fondazione Telethon, Italy
Consolidating the role of TDP2 mutations in recessive spinocerebellar ataxia associated with pediatric onset drug resistant epilepsy and intellectual disability (SCAR23)
C Ciaccio, R Castello, S Esposito, M Pinelli, V Nigro, G Casari, ...
The Cerebellum 18, 972-975, 2019
Mandaten: Fondazione Telethon, Italy
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p. Arg609His pathogenic variant
C Ciaccio, V Duga, C Pantaleoni, S Esposito, I Moroni, M Pinelli, ...
European Journal of Medical Genetics 64 (1), 104116, 2021
Mandaten: Fondazione Telethon, Italy
Novel variants in genes related to vesicle-mediated-transport modify Parkinson's disease risk
O Goldstein, M Gana-Weisz, S Banfi, V Nigro, A Bar-Shira, A Thaler, ...
Molecular Genetics and Metabolism 139 (2), 107608, 2023
Mandaten: Michael J Fox Foundation
Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature
ES Apuril Velgara, M Mariani, A Torella, F Musacchia, ...
American Journal of Medical Genetics Part A 188 (6), 1661-1666, 2022
Mandaten: Fondazione Telethon, Italy
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature
C Santoro, G Gaudino, A Torella, G Piluso, S Perrotta, EM Del Giudice, ...
European Journal of Medical Genetics 64 (12), 104358, 2021
Mandaten: Fondazione Telethon, Italy
AP1S2‐truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency.
G Cappuccio, A Torella, M Mastrangelo, C Carducci, V Nigro, ...
Acta Paediatrica 108 (3), 2019
Mandaten: Fondazione Telethon, Italy
Prediction of rare single-nucleotide causative mutations for muscular diseases in pooled next-generation sequencing experiments
MB Ferraro, M Savarese, G Di Fruscio, V Nigro, MR Guarracino
Journal of Computational Biology 21 (9), 665-675, 2014
Mandaten: Fondazione Telethon, Italy
Familial trisomy 6p in mother and daughter
M Savarese, A Grandone, L Perone, FDV Blanco, G De Luca, ...
American Journal of Medical Genetics Part A 161 (7), 1675-1681, 2013
Mandaten: Fondazione Telethon, Italy
Ergens beschikbaar: 146
Genetic basis of limb-girdle muscular dystrophies: the 2014 update
V Nigro, M Savarese
Acta Myologica 33 (1), 1, 2014
Mandaten: Fondazione Telethon, Italy
229th ENMC international workshop: Limb girdle muscular dystrophies–Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017
V Straub, A Murphy, B Udd, A Corrado, S Aymé, C Bönneman, ...
Neuromuscular Disorders 28 (8), 702-710, 2018
Mandaten: Fondazione Telethon, Italy
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population
E Benetti, R Tita, O Spiga, A Ciolfi, G Birolo, A Bruselles, G Doddato, ...
European Journal of Human Genetics 28 (11), 1602-1614, 2020
Mandaten: Fondazione Telethon, Italy, Government of Italy
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)
NM Vieira, MS Naslavsky, L Licinio, F Kok, D Schlesinger, M Vainzof, ...
Human molecular genetics 23 (15), 4103-4110, 2014
Mandaten: Fondazione Telethon, Italy
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs
M Karali, M Persico, M Mutarelli, A Carissimo, M Pizzo, V Singh Marwah, ...
Nucleic acids research 44 (4), 1525-1540, 2016
Mandaten: Fondazione Telethon, Italy
The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients
M Savarese, G Di Fruscio, A Torella, C Fiorillo, F Magri, M Fanin, ...
Neurology 87 (1), 71-76, 2016
Mandaten: Fondazione Telethon, Italy
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis
F Magri, V Nigro, C Angelini, T Mongini, M Mora, I Moroni, A Toscano, ...
Muscle & nerve 55 (1), 55-68, 2017
Mandaten: Fondazione Telethon, Italy
Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches
V Nigro, S Aurino, G Piluso
Current opinion in neurology 24 (5), 429-436, 2011
Mandaten: Fondazione Telethon, Italy
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations
M Cacciottolo, G Numitone, S Aurino, IR Caserta, M Fanin, L Politano, ...
European journal of human genetics 19 (9), 974-980, 2011
Mandaten: Fondazione Telethon, Italy
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