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Giuseppe Di Iorio
Researcher at Seconda Università degli Studi di Napoli
Publications - 47
Citations - 9209
Giuseppe Di Iorio is an academic researcher from Seconda Università degli Studi di Napoli. The author has contributed to research in topics: Frontal lobe & Gene. The author has an hindex of 17, co-authored 47 publications receiving 8466 citations.
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Journal ArticleDOI
Mutation in the α-synuclein gene identified in families with Parkinson's disease
Mihael H. Polymeropoulos,Christian Lavedan,Elisabeth Leroy,Susan E. Ide,Anindya Dehejia,Amalia Dutra,Brian L. Pike,Holly Root,Jeffrey Rubenstein,Rebecca Boyer,Edward S. Stenroos,Settara C. Chandrasekharappa,Aglaia Athanassiadou,Theodore Papapetropoulos,William G. Johnson,Alice Lazzarini,Roger C. Duvoisin,Giuseppe Di Iorio,Lawrence I. Golbe,Robert L. Nussbaum +19 more
TL;DR: A mutation was identified in the α-synuclein gene, which codes for a presynaptic protein thought to be involved in neuronal plasticity, in the Italian kindred and in three unrelated families of Greek origin with autosomal dominant inheritance for the PD phenotype.
Journal ArticleDOI
Mapping of a Gene for Parkinson's Disease to Chromosome 4q21-q23
Mihael H. Polymeropoulos,J. J. Higgins,Lawrence I. Golbe,William G. Johnson,Susan E. Ide,Giuseppe Di Iorio,G. Sanges,Edward S. Stenroos,Lana T. Pho,Alejandro A. Schäffer,Alice M. Lazzarini,Robert L. Nussbaum,Roger C. Duvoisin +12 more
TL;DR: In this article, genetic markers on chromosome 4q21-q23 were found to be linked to the PD phenotype in a large kindred with autosomal dominant PD, with a Zmax = 6.00 for marker D4S2380.
Journal ArticleDOI
Clinical genetic analysis of Parkinson's disease in the contursi kindred
Lawrence I. Golbe,Alice M. Lazzarini,Roger C. Duvoisin,Giuseppe Di Iorio,G. Sanges,Vincenzo Bonavita,Salvatore la Sala +6 more
TL;DR: The findings show that a presumably single mutation can prodcue a heterogeneous PD phenotype, even among siblings, consistent with the hypothesis that PD in the community may in fact be caused by a mutation, but one producing a lower penetrance and older age at onset than those in this kindred.
Journal ArticleDOI
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients
Marco Savarese,Giuseppina Di Fruscio,Annalaura Torella,Chiara Fiorillo,Francesca Magri,Marina Fanin,Lucia Ruggiero,Giulia Ricci,Guja Astrea,L. Passamano,Alessandra Ruggieri,Dario Ronchi,Giorgio Tasca,Adele D'Amico,Sandra Janssens,Olimpia Farina,Margherita Mutarelli,Veer Singh Marwah,Arcomaria Garofalo,Teresa Giugliano,Simone Sanpaolo,Francesca Del Vecchio Blanco,Gaia Esposito,Giulio Piluso,Paola D'Ambrosio,Roberta Petillo,Olimpia Musumeci,Carmelo Rodolico,Sonia Messina,Anni Evilä,Peter Hackman,Massimiliano Filosto,Giuseppe Di Iorio,Gabriele Siciliano,Marina Mora,Lorenzo Maggi,Carlo Minetti,Sabrina Sacconi,Lucio Santoro,Kathleen Claes,Liliana Vercelli,Tiziana Mongini,Enzo Ricci,Francesca Gualandi,Rossella Tupler,Jan De Bleecker,Bjarne Udd,Antonio Toscano,Maurizio Moggio,Elena Pegoraro,Enrico Bertini,Eugenio Mercuri,Corrado Angelini,Filippo M. Santorelli,Luisa Politano,Claudio Bruno,Giacomo P. Comi,Vincenzo Nigro +57 more
TL;DR: A large DNA study of patients with undiagnosed myopathy is an example of the ongoing revolution in molecular diagnostics, highlighting the advantages in using NGS as a first-tier approach for heterogeneous genetic conditions.
Journal ArticleDOI
Increased cerebrospinal fluid levels of 3,3',5'-triiodothyronine in patients with Alzheimer's disease.
Simone Sampaolo,Angel Campos-Barros,Gherardo Mazziotti,Sergio Carlomagno,Vincenzo Sannino,Giovanni Amato,Carlo Carella,Giuseppe Di Iorio +7 more
TL;DR: Results suggest an abnormal intracerebral thyroid hormone metabolism and possibly the occurrence of brain hypothyroidism, either as a secondary consequence of the ongoing process or as a cofactor in the progression of the disease.