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Patrizia Avoni
Researcher at University of Bologna
Publications - 104
Citations - 4493
Patrizia Avoni is an academic researcher from University of Bologna. The author has contributed to research in topics: Fatal familial insomnia & Epilepsy. The author has an hindex of 35, co-authored 96 publications receiving 3935 citations. Previous affiliations of Patrizia Avoni include Academy for Urban School Leadership.
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Journal ArticleDOI
Fatal Familial Insomnia, a Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene
R. Medori,Hans Juergen Tritschler,Andréa C. LeBlanc,Federico Villare,Valeria Manetto,Hsiao Ying Chen,Run Xue,Suzanne M. Leal,Pasquale Montagna,Pietro Cortelli,Paolo Tinuper,Patrizia Avoni,M. Mochi,Agostino Baruzzi,Jean J. Hauw,Jurg Ott,Elio Lugaresi,Lucila Autilio-Gambetti,Pierluigi Gambetti +18 more
TL;DR: Fatal familial insomnia is a prion disease with a mutation in codon 178 of the PrP gene, but the disease phenotype seems to differ from that of previously described kindreds with the same point mutation.
Journal ArticleDOI
Morvan's syndrome: peripheral and central nervous system and cardiac involvement with antibodies to voltage-gated potassium channels
Rocco Liguori,Angela Vincent,Linda Clover,Patrizia Avoni,Giuseppe Plazzi,Pietro Cortelli,A. Baruzzi,T. Carey,P. Gambetti,Elio Lugaresi,Pasquale Montagna +10 more
TL;DR: A man aged 76 years with NMT, dysautonomia, cardiac arrhythmia, lack of slow-wave sleep and abnormal rapid eye movement sleep is described, which is likely to be directly related to the VGKC antibodies acting in the periphery.
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Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability
L. H. Eunson,Ruth Rea,Sameer M. Zuberi,S. Youroukos,C. P. Panayiotopoulos,Rocco Liguori,Patrizia Avoni,Robert McWilliam,John Stephenson,Michael G. Hanna,Michael G. Hanna,Dimitri M. Kullmann,A Spauschus +12 more
TL;DR: Heterologous expression of the proteins encoded by the mutant KCNA1 genes suggest that the four point mutations impair delayed‐rectifier type potassium currents by different mechanisms, which may be relevant to the new phenotypic observations reported in this study.
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Skin nerve α-synuclein deposits: A biomarker for idiopathic Parkinson disease
Vincenzo Donadio,Alex Incensi,V. Leta,Maria Pia Giannoccaro,Cesa Scaglione,Paolo Martinelli,Sabina Capellari,Patrizia Avoni,Agostino Baruzzi,Rocco Liguori +9 more
TL;DR: This study provides Class III evidence that the presence of phosphorylated &agr;-synuclein in skin nerve fibers on skin biopsy accurately distinguishes IPD from other forms of parkinsonism.
Journal ArticleDOI
Idebenone treatment in Leber's hereditary optic neuropathy.
Valerio Carelli,Chiara La Morgia,Maria Lucia Valentino,Giovanni Rizzo,Michele Carbonelli,Anna Maria De Negri,Federico Sadun,Arturo Carta,Silvana Guerriero,Francesca Simonelli,Alfredo A. Sadun,Divya Aggarwal,Rocco Liguori,Patrizia Avoni,Agostino Baruzzi,Massimo Zeviani,Pasquale Montagna,Piero Barboni +17 more
TL;DR: In this paper, the authors present their own experience of using idebenone therapy in Leber's hereditary optic neuropathy (LHON) and evaluate retrospectively the efficacy of treatment.