Search Results - "Martinuzzi, Andrea"

Ontological modeling of the International Classification of Functioning, Disabilities and Health (ICF): Activities&Participation and Environmental Factors components by Cozzi, Silvia, Martinuzzi, Andrea, Della Mea, Vincenzo

“…The International Classification of Functioning, Disability and Health (ICF) is a classification of health and health-related states developed by the World…”
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Validation of the Italian version of a patient-reported outcome measure for Hereditary Spastic Paraplegia by Diella, Eleonora, D'Angelo, Maria Grazia, Stefan, Cristina, Girardi, Giulia, Morganti, Roberta, Martinuzzi, Andrea, Biffi, Emilia

“…Patient-reported outcome measures (PROMs) are recognized as valuable measures in the clinical setting. In 2018 we developed the Italian version of the…”
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Homotypic fusion of ER membranes requires the dynamin-like GTPase Atlastin by McNew, James A, Daga, Andrea, Orso, Genny, Pendin, Diana, Liu, Song, Tosetto, Jessica, Moss, Tyler J, Faust, Joseph E, Micaroni, Massimo, Egorova, Anastasia, Martinuzzi, Andrea

“…Establishment and maintenance of proper architecture is essential for endoplasmic reticulum (ER) function. Homotypic membrane fusion is required for ER…”
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Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking by Behne, Robert, Teinert, Julian, Wimmer, Miriam, D’Amore, Angelica, Davies, Alexandra K, Scarrott, Joseph M, Eberhardt, Kathrin, Brechmann, Barbara, Chen, Ivy Pin-Fang, Buttermore, Elizabeth D, Barrett, Lee, Dwyer, Sean, Chen, Teresa, Hirst, Jennifer, Wiesener, Antje, Segal, Devorah, Martinuzzi, Andrea, Duarte, Sofia T, Bennett, James T, Bourinaris, Thomas, Houlden, Henry, Roubertie, Agathe, Santorelli, Filippo M, Robinson, Margaret, Azzouz, Mimoun, Lipton, Jonathan O, Borner, Georg H H, Sahin, Mustafa, Ebrahimi-Fakhari, Darius

“…Abstract Deficiency of the adaptor protein complex 4 (AP-4) leads to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1),…”
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Determinants of Quality of Life in Ageing Populations: Results from a Cross-Sectional Study in Finland, Poland and Spain by Raggi, Alberto, Corso, Barbara, Minicuci, Nadia, Quintas, Rui, Sattin, Davide, De Torres, Laura, Chatterji, Somnath, Frisoni, Giovanni Battista, Haro, Josep Maria, Koskinen, Seppo, Martinuzzi, Andrea, Miret, Marta, Tobiasz-Adamczyk, Beata, Leonardi, Matilde

“…To comprehensively identify the determinants of quality of life (QoL) in a population study sample of persons aged 18-50 and 50+. In this observational,…”
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Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA‐Ataxia Working Group by Harding, Ian H., Chopra, Sidhant, Arrigoni, Filippo, Boesch, Sylvia, Brunetti, Arturo, Cocozza, Sirio, Corben, Louise A., Deistung, Andreas, Delatycki, Martin, Diciotti, Stefano, Dogan, Imis, Evangelisti, Stefania, França, Marcondes C., Göricke, Sophia L., Georgiou‐Karistianis, Nellie, Gramegna, Laura L., Henry, Pierre‐Gilles, Hernandez‐Castillo, Carlos R., Hutter, Diane, Jahanshad, Neda, Joers, James M., Lenglet, Christophe, Lodi, Raffaele, Manners, David N., Martinez, Alberto R. M., Martinuzzi, Andrea, Marzi, Chiara, Mascalchi, Mario, Nachbauer, Wolfgang, Pane, Chiara, Peruzzo, Denis, Pisharady, Pramod K., Pontillo, Giuseppe, Reetz, Kathrin, Rezende, Thiago J. R., Romanzetti, Sandro, Saccà, Francesco, Scherfler, Christoph, Schulz, Jörg B., Stefani, Ambra, Testa, Claudia, Thomopoulos, Sophia I., Timmann, Dagmar, Tirelli, Stefania, Tonon, Caterina, Vavla, Marinela, Egan, Gary F., Thompson, Paul M.

“…Objective Friedreich ataxia (FRDA) is an inherited neurological disease defined by progressive movement incoordination. We undertook a comprehensive…”
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Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia by Panzeri, Elena, Citterio, Andrea, Martinuzzi, Andrea, Ancona, Vera, Martini, Eleonora, Bassi, Maria Teresa

“…Defects in are associated with either epileptic phenotypes or a spastic paraplegia subtype known as SPG77. Here, we describe an 8-year-old patient with severe…”
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Metabolite profile in hereditary spastic paraplegia analyzed using magnetic resonance spectroscopy: a cross-sectional analysis in a longitudinal study by Montanaro, Domenico, Vavla, Marinela, Frijia, Francesca, Coi, Alessio, Baratto, Alessandra, Pasquariello, Rosa, Stefan, Cristina, Martinuzzi, Andrea

“…Hereditary Spastic Paraplegias (HSP) are genetic neurodegenerative disorders affecting the corticospinal tract. No established neuroimaging biomarker is…”
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Efficacy of a Combined Treatment of Botulinum Toxin and Intensive Physiotherapy in Hereditary Spastic Paraplegia by Paparella, Gabriella, Vavla, Marinela, Bernardi, Lisa, Girardi, Giulia, Stefan, Cristina, Martinuzzi, Andrea

“…The Hereditary Spastic Paraplegia (HSP) is a heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and lower limbs (LL)…”
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Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy by Caporali, Leonardo, Iommarini, Luisa, La Morgia, Chiara, Olivieri, Anna, Achilli, Alessandro, Maresca, Alessandra, Valentino, Maria Lucia, Capristo, Mariantonietta, Tagliavini, Francesca, Del Dotto, Valentina, Zanna, Claudia, Liguori, Rocco, Barboni, Piero, Carbonelli, Michele, Cocetta, Veronica, Montopoli, Monica, Martinuzzi, Andrea, Cenacchi, Giovanna, De Michele, Giuseppe, Testa, Francesco, Nesti, Anna, Simonelli, Francesca, Porcelli, Anna Maria, Torroni, Antonio, Carelli, Valerio

“…We here report on the existence of Leber's hereditary optic neuropathy (LHON) associated with peculiar combinations of individually non-pathogenic missense…”
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Caspr1 antibodies autoimmune paranodopathy with severe tetraparesis: Potential relevance of antibody titers in monitoring treatment response by Bresciani, Lorenzo, Salvalaggio, Alessandro, Vegezzi, Elisa, Visentin, Andrea, Fortuna, Andrea, Anglani, Mariagiulia, Cacciavillani, Mario, Masciocchi, Stefano, Scaranzin, Silvia, Carecchio, Miryam, Martinuzzi, Andrea, Gastaldi, Matteo, Briani, Chiara

“…Nodopathies and paranodopathies are autoimmune neuropathies associated with antibodies to nodal-paranodal antigens (neurofascin 140/186 and 155, contactin-1,…”
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Editorial: Hereditary Spastic Paraplegias: At the Crossroads of Molecular Pathways and Clinical Options by Martinuzzi, Andrea, Blackstone, Craig, O'Kane, Cahir J., Stevanin, Giovanni

“…Many HSP proteins are structural or enzymatic components of endoplasmic reticulum (ER) membrane, suggesting that axonal ER dysfunction might be a key mechanism…”
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Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases by Strobbe, Daniela, Caporali, Leonardo, Iommarini, Luisa, Maresca, Alessandra, Montopoli, Monica, Martinuzzi, Andrea, Achilli, Alessandro, Olivieri, Anna, Torroni, Antonio, Carelli, Valerio, Ghelli, Anna

“…There is growing evidence that the sequence variation of mitochondrial DNA (mtDNA), which clusters in population- and/or geographic-specific haplogroups, may…”
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Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis by Citterio, Andrea, Arnoldi, Alessia, Panzeri, Elena, Merlini, Luciano, D’Angelo, Maria Grazia, Musumeci, Olimpia, Toscano, Antonio, Bondi, Alice, Martinuzzi, Andrea, Bresolin, Nereo, Bassi, Maria Teresa

“…KIF1A gene encodes the kinesin 1a protein, an axonal motor protein working in cargo transport along neurites. Variants in KIF1A were identified in different…”
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Towards Consensus on Good Practices for the Use of New Technologies for Intervention and Support in Developmental Dyslexia: A Delphi Study Conducted among Italian Specialized Professionals by Lorusso, Maria Luisa, Borasio, Francesca, Da Rold, Martina, Martinuzzi, Andrea

“…The use of new technologies for intervention in developmental dyslexia is steadily growing. In order to better understand the needs, the expectations, and the…”
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Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review by Vecchia, Stefania Della, Tessa, Alessandra, Dosi, Claudia, Baldacci, Jacopo, Pasquariello, Rosa, Antenora, Antonella, Astrea, Guja, Bassi, Maria Teresa, Battini, Roberta, Casali, Carlo, Cioffi, Ettore, Conti, Greta, De Michele, Giovanna, Ferrari, Anna Rita, Filla, Alessandro, Fiorillo, Chiara, Fusco, Carlo, Gallone, Salvatore, Germiniasi, Chiara, Guerrini, Renzo, Haggiag, Shalom, Lopergolo, Diego, Martinuzzi, Andrea, Melani, Federico, Mignarri, Andrea, Panzeri, Elena, Pini, Antonella, Pinto, Anna Maria, Pochiero, Francesca, Primiano, Guido, Procopio, Elena, Renieri, Alessandra, Romaniello, Romina, Sancricca, Cristina, Servidei, Serenella, Spagnoli, Carlotta, Ticci, Chiara, Rubegni, Anna, Santorelli, Filippo Maria

“…Background Monoallelic variants in the KIF1A gene are associated with a large set of clinical phenotypes including neurodevelopmental and neurodegenerative…”
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Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis by Citterio, Andrea, Arnoldi, Alessia, Panzeri, Elena, D’Angelo, Maria Grazia, Filosto, Massimiliano, Dilena, Robertino, Arrigoni, Filippo, Castelli, Marianna, Maghini, Cristina, Germiniasi, Chiara, Menni, Francesca, Martinuzzi, Andrea, Bresolin, Nereo, Bassi, Maria Teresa

“…Complicated hereditary spastic paraplegias (HSP) are a heterogeneous group of HSP characterized by spasticity associated with a variable combination of…”
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Trends observed in bilateral cerebral palsy during a thirty-year period: A cohort study with an ICF-based overview by Pizzighello, Silvia, Vavla, Marinela, Minicuci, Nadia, Pellegri, Alda, Martinuzzi, Andrea

“…To describe trends observed across thirty years in demographic and clinical characteristics and rehabilitation of patients with bilateral cerebral palsy. This…”
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Effectiveness of rehabilitation intervention in persons with Friedreich ataxia by Paparella, Gabriella, Stragà, Cristina, Vavla, Marinela, Pesenti, Nicola, Merotto, Vasco, Martorel, Gian A., Zalunardo, Sara, Armellin, Maria, Comiotto, Jimmy, Martinuzzi, Andrea

“…Introduction The relevance of rehabilitation in progressive neurological disorders, such as Friedreich’s Ataxia (FRDA), has yet to be convincingly proven. FRDA…”
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Respiratory Complex I Dysfunction Due to Mitochondrial DNA Mutations Shifts the Voltage Threshold for Opening of the Permeability Transition Pore toward Resting Levels by Porcelli, Anna Maria, Angelin, Alessia, Ghelli, Anna, Mariani, Elisa, Martinuzzi, Andrea, Carelli, Valerio, Petronilli, Valeria, Bernardi, Paolo, Rugolo, Michela

“…We have studied mitochondrial bioenergetics in HL180 cells (a cybrid line harboring the T14484C/ND6 and G14279A/ND6 mtDNA mutations of Leber hereditary optic…”
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