Search Results - "Gabriele, AnnaLia"

Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype by Ruggieri, Martino, Polizzi, Agata, Salpietro, Vincenzo, Incorpora, Gemma, Nicita, Francesco, Pavone, Piero, Falsaperla, Raffaele, Nucifora, Caterina, Granata, Francesca, Distefano, Angela, Padua, Luca, Caltabiano, Rosario, Lanzafame, Salvatore, Gabriele, Anna Lia, Ortensi, Andrea, D'Orazi, Valerio, Panunzi, Andrea, Milone, Pietro, Mankad, Kshitij, Platania, Nunzio, Albanese, Vincenzo, Pavone, Vito

“…Familial spinal neurofibromatosis is a form of neurofibromatosis 1 (NF1), consisting of extensive, symmetrical, histologically proven, multiple neurofibromas…”
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Sporadic ALS is not associated with VAPB gene mutations in Southern Italy by Conforti, Francesca Luisa, Sprovieri, Teresa, Mazzei, Rosalucia, Ungaro, Carmine, Tessitore, Alessandro, Tedeschi, Gioacchino, Patitucci, Alessandra, Magariello, Angela, Gabriele, Annalia, Labella, Vincenzo, Simone, Isabella Laura, Majorana, Giovanni, Monsurrò, Maria Rosaria, Valentino, Paola, Muglia, Maria, Quattrone, Aldo

“…Mutations in the Cu/Zn superoxide dismutase (Sod1) gene have been reported to cause adult-onset autosomal dominant Amyotrophic Lateral Sclerosis (FALS). In…”
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Abnormally high levels of SOD1 mRNA in a patient with amyotrophic lateral sclerosis by Conforti, Francesca Luisa, Magariello, Angela, Mazzei, Rosalucia, Sprovieri, Teresa, Patitucci, Alessandra, Crescibene, Lucia, Bastone, Loredana, Gabriele, AnnaLia, Scornaienchi, Massimo, Ferraro, Tiziana, Muglia, Maria, Quattrone, Aldo

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Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy by Luisa Conforti, Francesca, Sprovieri, Teresa, Mazzei, Rosalucia, Patitucci, Alessandra, Ungaro, Carmine, Zoccolella, Stefano, Magariello, Angela, Bella, Vincenzo La, Tessitore, Alessandro, Tedeschi, Gioacchino, Simone, Isa Laura, Majorana, Giovanni, Valentino, Paola, Citrigno, Luigi, Gabriele, Annalia, Bono, Francesco, Monsurrò, Maria Rosaria, Muglia, Maria, Quattrone, Aldo

“…Mutations in the Cu/Zn superoxide dismutase 1 (SOD1) gene have been reported to cause adult-onset autosomal dominant amyotrophic lateral sclerosis (FALS). In…”
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Abnormally high levels of SOD1 mRNA in a patient with amyotrophic lateral sclerosis by Conforti, Francesca Luisa, Magariello, Angela, Mazzei, Rosalucia, Sprovieri, Teresa, Patitucci, Alessandra, Crescibene, Lucia, Bastone, Loredana, Gabriele, AnnaLia, Scornaienchi, Massimo, Ferraro, Tiziana, Muglia, Maria, Quattrone, Aldo

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