IRIS

SAMPAOLO, Simone

SAMPAOLO, Simone  

Dipartimento di Scienze Mediche e Chirurgiche Avanzate (DAMSS)  

Mostra records
Risultati 1 - 20 di 136 (tempo di esecuzione: 0.037 secondi).
Titolo Data di pubblicazione Autore(i) File
[Peripheral nervous system involvement in HCV-related mixed cryoglobulinemia] 1-gen-2001 Migliaresi, S; DI IORIO, Giuseppe; Ammendola, A; Ambrosone, L; Sanges, G; Ugolini, G; Sampaolo, Simone; Bravaccio, F; Tirri, G.
A coding variant in GRIN3A gene is associated with migraine in italian population. 1-gen-2011 Formicola, D; Esposito, T; Magliocca, S; Gianfrancesco, F; Farina, O; Cipullo, F; Capone, E; Sampaolo, Simone; DI IORIO, Giuseppe
A comment on: 'Molecular diagnosis of transthyretin Met30 mutation in an Italian family with familial amyloidotic polyneuropathy' by Paola Strocchi et al., FEBS Letters 359 (1995) 203-205 1-gen-1996 DI IORIO, Giuseppe; Sanges, G; Sampaolo, Simone; Bonavita, V.
A large kindred with Paramyotonia Congenita 1-gen-1991 Sampaolo, Simone; DI IORIO, Giuseppe; G., Sanges; A., Cerracchio; M. L. A., Fratello; V., Sannino; B., Arnone; V., Bonavita
A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease 1-gen-2000 DI IORIO, Giuseppe; Cappa, V; Ciccodicola, A; Sampaolo, Simone; Ammendola, A; Sanges, G; Giugliano, R; D'Urso, M.
A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease 1-gen-2015 Sampaolo, Simone; Esposito, T; Gianfrancesco, F; Napolitano, F; Lombardi, L; Lucà, R; Roperto, F; DI IORIO, Giuseppe
A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease. A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease 1-gen-2014 Sampaolo, Simone; Esposito, T; Gianfrancesco, F; Napolitano, F; Lombardi, L; Lucà, R; Roperto, F; DI IORIO, Giuseppe
A Novel Missense Mutation in CAV3 Gene in an Italian Family With Persistent hyperCKemia, Myalgia and Hypercholesterolemia: Double-trouble 1-gen-2020 Bruno, Giorgia; Puoti, Gianfranco; Oliva, Mariano; Colavito, Davide; Allegorico, Lia; Napolitano, Filomena; Sampaolo, Simone
A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis 1-gen-2002 Mazzei, R; Conforti, Fl; Magariello, A; Bravaccio, C; Militerni, R; Gabriele, Al; Sampaolo, Simone; Patitucci, A; DI IORIO, Giuseppe; Muglia, M; Quattrone, A.
A promoter deletion at the dystrophin gene in a severe muscular Duchenne-like phenotype 1-gen-1997 Sampaolo, Simone; L., Pastore; V., Cappa; G., Frisso; R. M., Calise; F., Salvatore; DI IORIO, Giuseppe
A Unique Myopathy Syndrome in a Patient Disclosing Clinical, Laboratory, and Genetic Findings of Late-Onset Pompe Disease, Together with a Lack of Dysferlin on Muscle Biopsy 1-gen-2015 Sampaolo, Simone; Lombardi, Luca; Pascarella, Angelo; Picillo, Esther; Farina, Olimpia; Esposito, Teresa; Politano, Luisa; DI IORIO, Giuseppe
Abnormal accumulation of tTGase products in muscle and erythrocytes of chorea-acanthocytosis patients 1-gen-2002 Melone, Mariarosa Anna Beatrice; DI FEDE, G; Peluso, G; Lus, Giacomo; DI IORIO, Giuseppe; Sampaolo, Simone; Capasso, A; Gentile, Vittorio; Cotrufo, R.
Adult polyglucosan body disease; novel homozygous missense mutation in the glycogen-branching enzyme gene in an italian patient. 1-gen-2012 Farina, O; Cipullo, F; Simonetti, M; Formicola, D; Tortora, Fabio; Esposito, T; Sampaolo, Simone; DI IORIO, Giuseppe
Adult-onset brain tumors and neurodegeneration: Are polyphenols protective? 1-gen-2018 Squillaro, Tiziana; Schettino, Carla; Sampaolo, Simone; Galderisi, Umberto; Di Iorio, Giuseppe; Giordano, Antonio; Melone, Mariarosa A. B.
Altered glial fibrillary acidic protein immunoreactivity in rat brain following chronic hypoxia 1-gen-1991 Zimmer, C; Sampaolo, Simone; Sharma, Hs; CERVOS NAVARRO, J.
Associazione di distrofia muscolare congenita e malformazioni oculo-cerebrali : presentazione di un caso 1-gen-1992 G., Capece; Sampaolo, Simone; C., Stellato; G., Sanges; DI IORIO, Giuseppe; G., Guglielmotti
Autonomic neuropathy in mixed cryoglobulinemia 1-gen-2007 Ammendola, A; Sampaolo, Simone; Migliaresi, S; Ambrosone, L; Ammendola, E; Ciccone, G; DI IORIO, Giuseppe
Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation 1-gen-2018 Napolitano, F; Di Iorio, V; Testa, F; Tirozzi, A; Reccia, Mg; Lombardi, L; Farina, O; Simonelli, F; Gianfrancesco, F; Di Iorio, G; Melone, Mab; Esposito, T; Sampaolo, S.
Bioactive Phenolic Compounds in the Modulation of Central and Peripheral Nervous System Cancers: Facts and Misdeeds. 1-gen-2020 Perrone, Lorena; Sampaolo, Simone; Melone, Mariarosa Anna Beatrice
Biochemical and morphological evidences supporting the hypothesis of a role of Tgase in the pathogeneisi of Chorea-Acanthocytosis 1-gen-2000 Lus, Giacomo; G., DI FEDE; Melone, Mariarosa Anna Beatrice; G., Peluso; DI IORIO, Giuseppe; Sampaolo, Simone; A., Capasso; V., Gentile; R., Cotrufo