Chi siamo
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Responsabile scientifico: Prof. Antonio ORLACCHIO Personale afferente:
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Dove siamo
Laboratorio di Genetica Medica
Centro Didattico (Piano 1) - Strada Vicinale Via delle Corse
Sant’Andrea delle Fratte, 06132 Perugia, Italy
Cosa facciamo
| Neuroscienze (Antonio ORLACCHIO) |
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Tecnologie e Strumentazione
| Genomics Metagenomics |
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Pubblicazioni
Meyyazhagan Arun, Orlacchio Antonio (2022). Hereditary spastic paraplegia: an update. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, vol. 23, p. 1-25, ISSN: 1422-0067, doi:10.3390/ijms23031697
Faber Ingrid, Martinez Alberto Rolim Muro, Martins Jr Carlos Roberto, Maia Maidane Luise, Souza Juliana Pasquotto, Lourenço Charles Marques, Marques Jr Wilson, Montecchiani Celeste, Orlacchio Antonio, Pedroso Jose Luiz, Barsottini Orlando Graziani Povoas, Ramos Celso Darío, Lopes-Cendes Íscia, Friedman Joseph H., Amorim Bárbara Juarez, França Jr Marcondes Cavalcante (2018). SPG11-related parkinsonism: Clinical profile, molecular imaging and l-dopa response. MOVEMENT DISORDERS, vol. 33, p. 1650-1656, ISSN: 0885-3185, doi: 10.1002/mds.27491
Montecchiani Celeste, Pedace Lucia, Lo Giudice Temistocle, Casella Antonella, Mearini Marzia, Gaudiello Fabrizio, Pedroso José L, Terracciano Chiara, Caltagirone Carlo, Massa Roberto, St George-Hyslop Peter H, Barsottini Orlando GP, Kawarai Toshitaka, Orlacchio Antonio (2016). ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. BRAIN, vol. 139, p. 73-85, ISSN: 0006-8950, doi:10.1093/brain/awv320
Kawarai Toshitaka, Miyamoto Ryosuke, Shimatani Yoshimitsu, Orlacchio Antonio, Kaji Ryuji (2016). Choreoathetosis, dystonia, and myoclonus in 3 siblings with autosomal recessive spinocerebellar ataxia type 16. JAMA NEUROLOGY, vol. 73, p. 888-890, ISSN: 2168-6149, doi: 10.1001/jamaneurol.2016.0647
Carosi Laura, Lo Giudice Temistocle, Di Lullo Martina, Lombardi Federica, Babalini Carla, Gaudiello Fabrizio, Marfia Girolama Alessandra, Massa Roberto, Kawarai Toshitaka, Orlacchio Antonio (2015). Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10. JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY, vol. 86, p. 702-704, ISSN: 0022-3050, doi: 10.1136/jnnp-2014-308625
Montenegro Gladys, Rebelo Adriana P., Connell James, Allison Rachel, Babalini Carla, D'Aloia Michela, Montieri Pasqua, Schüle Rebecca, Ishiura Hiroyuki, Price Justin, et al, Orlacchio Antonio, Reid Evan, Züchner Stephan (2012). Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. THE JOURNAL OF CLINICAL INVESTIGATION, vol. 122, p. 538-544, ISSN: 0021-9738, doi:10.1172/JCI60560
Orlacchio Antonio, Babalini Carla, Borreca Antonella, Patrono Clarice, Massa Roberto, Basaran Sarenur, Munhoz Renato P., Rogaeva Ekaterina A, St George-Hyslop Peter H, Bernardi Giorgio, Kawarai Toshitaka (2010). SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. BRAIN, vol. 133, p. 591-598, ISSN: 0006-8950, doi: 10.1093/brain/awp325
Orlacchio Antonio, Patrono Clarice, Borreca Antonella, Babalini Carla, Bernardi Giorgio, Kawarai Toshitaka (2008). Spastic paraplegia in Romania: High prevalence of SPG4 mutations. JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY, vol. 79, p. 606-607, ISSN: 0022-3050, doi: 10.1136/jnnp.2007.128827
Orlacchio Antonio, Patrono Clarice, Gaudiello Fabrizio, Rocchi Camilla, Moschella Vincenzo, Floris Roberto, Bernardi Giorgio, Kawarai Toshitaka (2008). Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4. NEUROLOGY, vol. 70, p. 1959-1966, ISSN: 0028-3878, doi: 10.1212/01.wnl.0000294330.27058.61
Orlacchio Antonio, Kawarai Toshitaka, Gaudiello Fabrizio, St George-Hyslop Peter H, Floris Roberto, Bernardi Giorgio (2005). New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1. ANNALS OF NEUROLOGY, vol. 58, p. 423-429, ISSN: 0364-5134, doi: 10.1002/ana.20590