Search Results - "Fabrizi, Gian M"

Neuropathic pain in Charcot–Marie‐Tooth disease: A clinical and laser‐evoked potential study by Peretti, Alessia, Squintani, Giovanna, Taioli, Federica, Tagliapietra, Matteo, Cavallaro, Tiziana, Fabrizi, Gian M.

“…Background Pain, either nociceptive or neuropathic (NP), is a common symptom in Charcot–Marie‐Tooth (CMT) disease. Methods We investigated small fibers…”
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Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling by Gregianin, Elisa, Pallafacchina, Giorgia, Zanin, Sofia, Crippa, Valeria, Rusmini, Paola, Poletti, Angelo, Fang, Mingyan, Li, Zhouxuan, Diano, Laura, Petrucci, Antonio, Lispi, Ludovico, Cavallaro, Tiziana, Fabrizi, Gian M, Muglia, Maria, Boaretto, Francesca, Vettori, Andrea, Rizzuto, Rosario, Mostacciuolo, Maria L, Vazza, Giovanni

“…Distal hereditary motor neuropathies (dHMNs) are clinically and genetically heterogeneous neurological conditions characterized by degeneration of the lower…”
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Charcot-Marie-Tooth disease by Manganelli, Fiore, Nolano, Maria, Pisciotta, Chiara, Provitera, Vincenzo, Fabrizi, Gian M, Cavallaro, Tiziana, Stancanelli, Annamaria, Caporaso, Giuseppe, Shy, Michael E, Santoro, Lucio

“…Objective: To evaluate, by skin biopsy, dermal nerve fibers in 31 patients with 3 common Charcot-Marie-Tooth (CMT) genotypes (CMT1A, late-onset CMT1B, and…”
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Charcot-Marie-Tooth disease: New insights from skin biopsy by Manganelli, Fiore, Nolano, Maria, Pisciotta, Chiara, Provitera, Vincenzo, Fabrizi, Gian M, Cavallaro, Tiziana, Stancanelli, Annamaria, Caporaso, Giuseppe, Shy, Michael E, Santoro, Lucio

“…OBJECTIVE:To evaluate, by skin biopsy, dermal nerve fibers in 31 patients with 3 common Charcot-Marie-Tooth (CMT) genotypes (CMT1A, late-onset CMT1B, and…”
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Patient-Reported Symptom Burden of Charcot–Marie–Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study by Thomas, Florian P., Saporta, Mario A., Attarian, Shahram, Sevilla, Teresa, Sivera, Rafael, Fabrizi, Gian M., Genovese, Filippo, Gray, Amy J., Bull, Simon, Tanesse, Daniel, Rego, Manuel, Moore, Allison, Hollett, Courtney, Paoli, Xavier, Sénéchal, Thomas, Day, Laura, Ouyang, Chengyu, Llewellyn, Samuel, Larkin, Mark, Boutalbi, Youcef

“…Abstract Objectives: This study aims to explore the impact of Charcot–Marie–Tooth disease type 1A (CMT1A) and its treatment on patients in European (France,…”
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A conserved sorting-associated protein is mutant in chorea-acanthocytosis by Manfredi, Michela, Malandrini, Alessandro, Rampoldi, Luca, Ferrer, Xavier, Brown, Robert, Rudolf, Gabrielle, Németh, Andrea H, Alonso, Elisa, Vance, Jeffery, Wood, Nicholas W, Carrè, Sophie, Dobson-Stone, Carol, Danek, Adrian, Monaco, Anthony P, Rubio, Justin P, Verellen, Christine, Pericak-Vance, Margaret, Chalmers, Richard M, Fabrizi, Gian M

“…Chorea-acanthocytosis (CHAC, MIM 200150) is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and…”
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Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca 2+ signalling by Gregianin, Elisa, Pallafacchina, Giorgia, Zanin, Sofia, Crippa, Valeria, Rusmini, Paola, Poletti, Angelo, Fang, Mingyan, Li, Zhouxuan, Diano, Laura, Petrucci, Antonio, Lispi, Ludovico, Cavallaro, Tiziana, Fabrizi, Gian M., Muglia, Maria, Boaretto, Francesca, Vettori, Andrea, Rizzuto, Rosario, Mostacciuolo, Maria L., Vazza, Giovanni

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Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study by Cuyvers, Elise, van der Zee, Julie, Bettens, Karolien, Engelborghs, Sebastiaan, Vandenbulcke, Mathieu, Robberecht, Caroline, Dillen, Lubina, Merlin, Céline, Geerts, Nathalie, Graff, Caroline, Thonberg, Håkan, Chiang, Huei-Hsin, Pastor, Pau, Ortega-Cubero, Sara, Pastor, Maria A, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Benussi, Luisa, Ghidoni, Roberta, Binetti, Giuliano, Nacmias, Benedetta, Sorbi, Sandro, Sanchez-Valle, Raquel, Lladó, Albert, Gelpi, Ellen, Almeida, Maria Rosário, Santana, Isabel, Clarimon, Jordi, Lleó, Alberto, Fortea, Juan, de Mendonça, Alexandre, Martins, Madalena, Borroni, Barbara, Padovani, Alessandro, Matěj, Radoslav, Rohan, Zdenek, Ruiz, Agustín, Frisoni, Giovanni B, Fabrizi, Gian Maria, Vandenberghe, Rik, De Deyn, Peter P, Van Broeckhoven, Christine, Sleegers, Kristel

“…Abstract Meta-analysis of existing genome-wide association studies on Alzheimer's disease (AD) showed subgenome-wide association of an intronic variant in the…”
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Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRI AA L and CMT-TRAUK): a double-blind randomised trial by Pareyson, Davide, Dr, Reilly, Mary M, Prof, Schenone, Angelo, MD, Fabrizi, Gian Maria, MD, Cavallaro, Tiziana, MD, Santoro, Lucio, Prof, Vita, Giuseppe, Prof, Quattrone, Aldo, Prof, Padua, Luca, MD, Gemignani, Franco, MD, Visioli, Francesco, PhD, Laurà, Matilde, MD, Radice, Davide, MSc, Calabrese, Daniela, MSc, Hughes, Richard AC, Prof, Solari, Alessandra, MD

“…Summary Background Ascorbic acid reduced the severity of neuropathy in transgenic mice overexpressing peripheral myelin protein 22 ( PMP22 ), a model of…”
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Chorea-Acanthocytosis: Genetic Linkage to Chromosome 9q21 by Rubio, Justin P., Danek, Adrian, Stone, Caroline, Chalmers, Richard, Wood, Nicholas, Verellen, Christine, Ferrer, Xavier, Malandrini, Alessandro, Fabrizi, Gian M., Manfredi, Michela, Vance, Jefferey, Pericak-Vance, Margaret, Brown, Robert, Rudolf, Gabrielle, Picard, Fabienne, Alonso, Elisa, Brin, Mitchell, Németh, Andrea H., Farrall, Martin, Monaco, Anthony P.

“…Chorea-acanthocytosis (CHAC) is a rare autosomal recessive disorder characterized by progressive neurode-generation and unusual red-cell morphology…”
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Spinal arachnoid cyst as a cause of isolated, progressive, bilateral C5–C6 radiculopathy by Vogrig, Alberto, MD, Tonin, Paola, MD, PhD, Fabrizi, Gian Maria, MD, PhD, Fenzi, Flavio, MD, Beltramello, Alberto, MD, Sala, Francesco, MD, Meglio, Mario, MD, Monaco, Salvatore, MD

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