A
Antonio Orlacchio
Researcher at University of Perugia
Publications - 149
Citations - 3828
Antonio Orlacchio is an academic researcher from University of Perugia. The author has contributed to research in topics: Hereditary spastic paraplegia & Gene. The author has an hindex of 32, co-authored 143 publications receiving 3332 citations. Previous affiliations of Antonio Orlacchio include University of Toronto & University of Rome Tor Vergata.
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Journal ArticleDOI
Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms
Temistocle Lo Giudice,Federica Lombardi,Filippo M. Santorelli,Toshitaka Kawarai,Antonio Orlacchio +4 more
TL;DR: Interactome networks have been postulated by bioinformatics and biological analyses of spastic paraplegia genes, which would contribute to the development of new therapeutic approaches.
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SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis
Antonio Orlacchio,Carla Babalini,Antonella Borreca,C. Patrono,Roberto Massa,Sarenur Basaran,Renato P. Munhoz,Ekaterina Rogaeva,Peter St George-Hyslop,Peter St George-Hyslop,Giorgio Bernardi,Toshitaka Kawarai +11 more
TL;DR: It is indicated that mutations in the spatascin gene could cause a much wider spectrum of clinical features than previously recognized, including autosomal recessive juvenile amyotrophic lateral sclerosis.
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MicroRNA Implications across Neurodevelopment and Neuropathology
TL;DR: The most recent insights into the involvement of miRNAs in the biology of the nervous system and the occurrence of neuropathological disorders are reviewed and discussed.
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Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12
Gladys Montenegro,Adriana P. Rebelo,James W. Connell,Rachel Allison,Carla Babalini,Michela D’Aloia,Pasqua Montieri,Rebecca Schüle,Rebecca Schüle,Hiroyuki Ishiura,Justin Price,Alleene V. Strickland,Michael A. Gonzalez,Lisa Baumbach-Reardon,Tine Deconinck,Jia Huang,Giorgio Bernardi,Jeffery M. Vance,Mark T. Rogers,Shoji Tsuji,Peter De Jonghe,Margaret A. Pericak-Vance,Ludger Schöls,Ludger Schöls,Antonio Orlacchio,Evan Reid,Stephan Züchner +26 more
TL;DR: The results directly implicate a reticulon protein in axonopathy, show that this protein participates in a network of interactions among HSP proteins involved in ER shaping, and further support the hypothesis that abnormal ER morphogenesis is a pathogenic mechanism in HSP.
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Subthalamic stimulation activates internal pallidus: evidence from cGMP microdialysis in PD patients.
Alessandro Stefani,Ernesto Fedele,Salvatore Galati,Olimpia Pepicelli,Stefania Frasca,Mariangela Pierantozzi,Antonella Peppe,Livia Brusa,Antonio Orlacchio,Atticus H. Hainsworth,Giuseppe Gattoni,Paolo Stanzione,Giorgio Bernardi,Maurizio Raiteri,Paolo Mazzone +14 more
TL;DR: Elevated cGMP extracellular concentrations in the internal segment of the globus pallidus are found, despite negligible changes in glutamate levels, during a clinically effective STN‐DBS, supporting the view that a clinically beneficial effect of STN-DBS is paralleled by an augmentation (and not an inactivation) of the STN output onto the GPi.