C
Carlo Rinaldi
Researcher at University of Oxford
Publications - 52
Citations - 1924
Carlo Rinaldi is an academic researcher from University of Oxford. The author has contributed to research in topics: Spinal and bulbar muscular atrophy & Androgen receptor. The author has an hindex of 22, co-authored 51 publications receiving 1499 citations. Previous affiliations of Carlo Rinaldi include National Institutes of Health & University of Naples Federico II.
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Journal ArticleDOI
Predictors of survival in a Huntington's disease population from southern Italy
Carlo Rinaldi,Elena Salvatore,Ilaria Giordano,Sara De Matteis,Tecla Tucci,Valeria Russo Cinzia,Fabiana Rossi,Imma Castaldo,Vincenzo Brescia Morra,Luigi Di Maio,Alessandro Filla,Giuseppe De Michele +11 more
TL;DR: Findings from this study are important for a better understanding of the natural history of the disease and may be relevant in designing future therapeutic trials.
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Benign hereditary chorea: Clinical and neuroimaging features in an Italian family
Elena Salvatore,Luigi Di Maio,Alessandro Filla,Alfonso Massimiliano Ferrara,Carlo Rinaldi,Francesco Saccà,Silvio Peluso,Paolo Emidio Macchia,Sabina Pappatà,Giuseppe De Michele +9 more
TL;DR: 3 patients of an Italian family carrying the S145X mutation in the TITF‐1 gene with mild motor delay, childhood onset dyskinesias, and subtle cognitive impairment with congenital hypothyroidism and neonatal respiratory distress are described.
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MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular Atrophy
Naemeh Pourshafie,Philip R. Lee,Ke-lian Chen,George G. Harmison,Laura C. Bott,Laura C. Bott,Masahisa Katsuno,Gen Sobue,Barrington G. Burnett,Kenneth H. Fischbeck,Carlo Rinaldi,Carlo Rinaldi +11 more
TL;DR: Intravenous delivery of miR-298 with adeno-associated virus serotype 9 vector resulted in efficient transduction of muscle and spinal cord and amelioration of the disease phenotype in SBMA mice, and support the development of miRNAs as a therapeutic strategy for SBMA and other neurodegenerative disorders caused by toxic proteins.
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Low-dose idebenone treatment in Friedreich's ataxia with and without cardiac hypertrophy
TL;DR: A retrospective analysis of a cohort of 35 patients with confirmed molecular diagnosis of Friedreich’s ataxia, treated with idebenone 5 mg/kg/day for up to five years finds an increase of interventricular septum and posterior wall thickness in the group without LVH before treatment and no change before treatment.
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The Multiple Faces of Spinocerebellar Ataxia type 2.
Antonella Antenora,Carlo Rinaldi,Alessandro Roca,Chiara Pane,Maria Lieto,Maria Lieto,Francesco Saccà,Silvio Peluso,Giuseppe De Michele,Alessandro Filla +9 more
TL;DR: Spinocerebellar ataxia type 2 (SCA2) is among the most common forms of autosomal dominant ataxias, accounting for 15% of the total families, and occurrence is higher in specific populations such as the Cuban and Southern Italian.