Search Results - "Gabriele, Anna Lia"

Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke–Davidoff–Masson type in two patients by Ruggieri, Martino, Milone, Pietro, Pavone, Piero, Falsaperla, Raffaele, Polizzi, Agata, Caltabiano, Rosario, Fichera, Marco, Gabriele, Anna Lia, Distefano, Angela, De Pasquale, Rocco, Salpietro, Vincenzo, Micali, Giuseppe, Pavone, Lorenzo

“…The term twin spotting refers to phenotypes characterized by the spatial and temporal co‐occurrence of two (or more) different nevi arranged in variable…”
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Neurofibromatosis type 1 and infantile spasms by Ruggieri, Martino, Iannetti, Paola, Clementi, Maurizio, Polizzi, Agata, Incorpora, Gemma, Spalice, Alberto, Pavone, Piero, Praticò, Andrea Domenico, Elia, Maurizio, Gabriele, Anna Lia, Tenconi, Romano, Pavone, Lorenzo

“…Background There is no agreement on the prevalence, natural history and outcome of infantile spasms (IS) in neurofibromatosis type 1 (NF1). By contrast, its…”
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A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies by Muglia, Maria, Patitucci, Alessandra, Rizzi, Romana, Ungaro, Carmine, Conforti, Francesca Luisa, Gabriele, Anna Lia, Magariello, Angela, Mazzei, Rosalucia, Motti, Luisa, Sabadini, Rossella, Sprovieri, Teresa, Marcello, Norina, Quattrone, Aldo

“…Abstract Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited disorder characterized by recurrent sensory or…”
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A Simple Method for Diagnosis of Autosomal Recessive Spinal Muscular Atrophy by Denaturing High-Performance Liquid Chromatography by Mazzei, Rosalucia, Conforti, Francesca Luisa, Muglia, Maria, Sprovieri, Teresa, Patitucci, Alessandra, Magariello, Angela, Lia Gabriele, Anna, Quattrone, Aldo

“…Autosomal recessive spinal muscular atrophy is caused by mutations in the survival motoneuron (SMN ) gene. There are two nearly identical copies of this gene…”
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Natural history of neurofibromatosis type 2 with onset before the age of 1 year by Ruggieri, Martino, Gabriele, Anna Lia, Polizzi, Agata, Salpietro, Vincenzo, Nicita, Francesco, Pavone, Piero, Platania, Nunzio, Milone, Pietro, Distefano, Angela, Privitera, Giuseppe, Belfiore, Giuseppe, Granata, Francesca, Caltabiano, Rosario, Albanese, Vincenzo, Pavone, Lorenzo, Quattrone, Aldo

“…Neurofibromatosis type 2 (NF2) with onset before the first year of life has been anecdotally reported in the literature. We (a) prospectively (years 1997–2012)…”
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Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia by Magariello, Angela, Muglia, Maria, Patitucci, Alessandra, Ungaro, Carmine, Mazzei, Rosalucia, Gabriele, Anna Lia, Sprovieri, Teresa, Citrigno, Luigi, Conforti, Francesca Luisa, Liguori, Maria, Gambardella, Antonio, Bono, Francesco, Piccoli, Tommaso, Patti, Francesco, Zappia, Mario, Mancuso, Michelangelo, Iemolo, Franco, Quattrone, Aldo

“…Abstract Mutations in the SPG4 gene are the most common causes of hereditary spastic paraplegia (HSP) accounting for up to 40% of autosomal dominant (AD) forms…”
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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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A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1 by Gabriele, Anna Lia, Ruggieri, Martino, Patitucci, Alessandra, Magariello, Angela, Conforti, Francesca Luisa, Mazzei, Rosalucia, Muglia, Maria, Ungaro, Carmine, Di Palma, Gemma, Citrigno, Luigi, Sproviero, William, Gambardella, Antonio, Quattrone, Aldo

“…Purpose Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with an estimated incidence of one in 3,500 births. Clinically, NF1 is…”
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Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia by Magariello, Angela, Muglia, Maria, Patitucci, Alessandra, Mazzei, Rosalucia, Conforti, Francesca Luisa, Gabriele, Anna Lia, Sprovieri, Teresa, Ungaro, Carmine, Gambardella, Antonio, Mancuso, Michelangelo, Siciliano, Gabriele, Branca, Damiano, Aguglia, Umberto, de Angelis, Maria Vittoria, Longo, Katia, Quattrone, Aldo

“…Spastic paraplegia type 4 is caused by mutations in the gene that encodes spastin (SPG4), a member of the AAA protein family. A cohort of 34 unrelated Italian…”
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Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia by Muglia, Maria, Magariello, Angela, Nicoletti, Giuseppe, Patitucci, Alessandra, Gabriele, Anna Lia, Conforti, Francesca Luisa, Mazzei, Rosalucia, Caracciolo, Manuela, Ardito, Bonaventura, Lastilla, Marcello, Tedeschi, Gioacchino, Quattrone, Aldo

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Comparison of different techniques for detecting 17p12 duplication in CMT1A by Patitucci, Alessandra, Muglia, Maria, Magariello, Angela, Gabriele, Anna Lia, Peluso, Giuseppina, Sprovieri, Teresa, Conforti, Francesca Luisa, Mazzei, Rosalucia, Ungaro, Carmine, Condino, Francesca, Valentino, Paola, Bono, Franco, Rodolico, Carmelo, Mazzeo, Anna, Toscano, Antonio, Vita, Giuseppe, Quattrone, Aldo

“…Charcot–Marie-Tooth type 1A is caused by a 1.5 Mb DNA duplication in the 17p12 chromosomal region encompassing the peripheral myelin protein 22 gene. In the…”
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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 of genetic heterogeneity in autosomal dominant distal motor neuronopathy by Passamonti, Luca, Muglia, Maria, Magariello, Angela, Bellesi, Michele, Conforti, Francesca Luisa, Mazzei, Rosalucia, Patitucci, Alessandra, Gabriele, Anna Lia, Sprovieri, Teresa, Peluso, Giuseppina, Caracciolo, Manuela, Medici, Emanuele, Logullo, Francesco, Provinciali, Leandro, Quattrone, Aldo

“…Distal hereditary motor neuronopathy is a genetically and clinically heterogeneous disorder. To date, five loci, and their relative genes, have been mapped on…”
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A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3 by MUGLIA, Maria, MAGARIELLO, Angela, LASTILLA, Marcello, GAMBARDELLA, Antonio, QUATTRONE, Aldo, NICOLETTI, Giuseppe, PATITUCCI, Alessandra, GABRIELE, Anna Lia, CONFORTI, Francesca Luisa, MAZZEI, Rosalucia, CARACCIOLO, Manuela, CASARI, Giorgio, ARDITO, Bonaventura

“…A large Italian pedigree from southern Italy with autosomal dominant uncomplicated spastic paraplegia is reported. The clinical picture was uniform and…”
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Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients by Ruggieri, Martino, Milone, Pietro, Pavone, Piero, Falsaperla, Raffaele, Polizzi, Agata, Caltabiano, Rosario, Fichera, Marco, Gabriele, Anna Lia, Distefano, Angela, De Pasquale, Rocco, Salpietro, Vincenzo, Micali, Giuseppe, Pavone, Lorenzo

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