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
Antisense oligonucleotides: the next frontier for treatment of neurological disorders
Carlo Rinaldi,Wood Mja. +1 more
TL;DR: With the rapid development of improved next-generation ASOs toward clinical application, this technology now holds the potential to have a dramatic effect on the treatment of many neurological conditions in the near future.
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The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study
Heike Jacobi,Peter Bauer,Paola Giunti,R. Labrum,M.G. Sweeney,P. Charles,A. Durr,Cecila Marelli,C. Globas,C. Linnemann,Ludger Schöls,Maria Rakowicz,Rafał Rola,E. Zdzienicka,T. Schmitz-Hübsch,R. Fancellu,Christian Mariotti,C. Tomasello,Laszlo Baliko,Béla Melegh,Alessandro Filla,Carlo Rinaldi,B.P.C. van de Warrenburg,C.C.P. Verstappen,S. Szymanski,José Berciano,J. Infante,Dagmar Timmann,S. Boesch,S. Hering,Chantal Depondt,Massimo Pandolfo,Jun-Suk Kang,S. Ratzka,Jörg B. Schulz,S. Tezenas du Montcel,Thomas Klockgether +36 more
TL;DR: Larger expanded repeats and earlier age at onset were associated with faster SARA progression in SCA1 and SCA2, and repeat length of the expanded allele had a similar effect on INAS progression.
Journal ArticleDOI
Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor
Carlo Rinaldi,Christopher Grunseich,Irina F. Sevrioukova,Alice B. Schindler,Iren Horkayne-Szakaly,Costanza Lamperti,Guida Landouré,Marina L. Kennerson,Marina L. Kennerson,Barrington G. Burnett,Carsten G. Bönnemann,Leslie G. Biesecker,Daniele Ghezzi,Massimo Zeviani,Kenneth H. Fischbeck +14 more
TL;DR: A missense change c.1478A>T (p.Glu493Val) in AIFM1, the gene encoding apoptosis-inducing factor (AIF) mitochondrion-associated 1, alters the redox properties of the AIF protein and results in increased cell death via apoptosis, without affecting the activity of the respiratory chain complexes.
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Atorvastatin combined to interferon to verify the efficacy (ACTIVE) in relapsing-remitting active multiple sclerosis patients: a longitudinal controlled trial of combination therapy.
Roberta Lanzillo,Giuseppe Orefice,Mario Quarantelli,Carlo Rinaldi,Anna Prinster,G. Ventrella,Daniele Spitaleri,Giacomo Lus,G. Vacca,Barbara Carotenuto,Elena Salvatore,Arturo Brunetti,Gioacchino Tedeschi,Vincenzo Brescia Morra +13 more
TL;DR: Low-dose atorvastatin may be beneficial, as add-on therapy, in poor responders to high-dose interferon beta-1a alone, in multiple sclerosis patients responding poorly to interferons alone.
Journal ArticleDOI
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12
Guida Landouré,Peng Peng Zhu,Charles Marques Lourenço,Janel O. Johnson,Camilo Toro,Katherine V. Bricceno,Carlo Rinaldi,Katherine G. Meilleur,Modibo Sangare,Oumarou Diallo,Tyler Mark Pierson,Hiroyuki Ishiura,Shoji Tsuji,Nichole D. Hein,John K. Fink,Marion Stoll,Garth A. Nicholson,Michael A. Gonzalez,Fiorella Speziani,Alexandra Durr,Giovanni Stevanin,Giovanni Stevanin,Leslie G. Biesecker,John Accardi,Dennis M.D. Landis,William A. Gahl,Bryan J. Traynor,Wilson Marques,Stephan Züchner,Craig Blackstone,Kenneth H. Fischbeck,Barrington G. Burnett +31 more
TL;DR: The genetic basis for a form of progressive hereditary spastic paraplegia previously described in two Malian sisters is reported and a homozygous missense variant in C19orf12, a gene recently implicated in neurodegeneration with brain iron accumulation (NBIA), as well as the most common C 19orf12 missense mutation reported in NBIA patients are found.