Search Results - "NERI, Marcella"

The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice by Ferlini, Alessandra, Neri, Marcella, Gualandi, Francesca

“…Abstract A large variety of mutations in the dystrophin gene cause Duchenne and Becker muscular dystrophies, diseases affecting predominantly the striated…”
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Report of a novel ATP7A mutation causing distal motor neuropathy by Gualandi, Francesca, Sette, Elisabetta, Fortunato, Fernanda, Bigoni, Stefania, De Grandis, Domenico, Scotton, Chiara, Selvatici, Rita, Neri, Marcella, Incensi, Alex, Liguori, Rocco, Storbeck, Markus, Karakaya, Mert, Simioni, Valentina, Squarzoni, Stefano, Timmerman, Vincent, Wirth, Brunhilde, Donadio, Vincenzo, Tugnoli, Valeria, Ferlini, Alessandra

“…•A novel missense mutation (p.A991D) identified by NGS in the X-linked ATP7A gene.•Novel phenotype with distal motor neuropathy and dysautonomia.•Refinement of…”
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Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes by Machnicki, Marcin M., Guglielmi, Valeria, Pancheri, Elia, Gualandi, Francesca, Verriello, Lorenzo, Pruszczyk, Katarzyna, Kosinska, Joanna, Sangalli, Antonella, Rydzanicz, Malgorzata, Romanelli, Maria Grazia, Neri, Marcella, Ploski, Rafal, Tonin, Paola, Tomelleri, Giuliano, Stoklosa, Tomasz, Vattemi, Gaetano

“…Background Myofibrillar myopathies (MFM) are a subgroup of protein aggregate myopathies (PAM) characterized by a common histological picture of myofibrillar…”
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The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms by Bovolenta, Matteo, Erriquez, Daniela, Valli, Emanuele, Brioschi, Simona, Scotton, Chiara, Neri, Marcella, Falzarano, Maria Sofia, Gherardi, Samuele, Fabris, Marina, Rimessi, Paola, Gualandi, Francesca, Perini, Giovanni, Ferlini, Alessandra

“…The 2.2 Mb long dystrophin (DMD) gene, the largest gene in the human genome, corresponds to roughly 0.1% of the entire human DNA sequence. Mutations in this…”
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Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network by Salvatore, Marco, Polizzi, Agata, De Stefano, Maria Chiara, Floridia, Giovanna, Baldovino, Simone, Roccatello, Dario, Sciascia, Savino, Menegatti, Elisa, Remuzzi, Giuseppe, Daina, Erica, Iatropoulos, Paraskevas, Bembi, Bruno, Da Riol, Rosalia Maria, Ferlini, Alessandra, Neri, Marcella, Novelli, Giuseppe, Sangiuolo, Federica, Brancati, Francesco, Taruscio, Domenica

“…Background For a number of persons with rare diseases (RDs) a definite diagnosis remains undiscovered with relevant physical, psychological and social…”
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A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies by Bovolenta, Matteo, Neri, Marcella, Fini, Sergio, Fabris, Marina, Trabanelli, Cecilia, Venturoli, Anna, Martoni, Elena, Bassi, Elena, Spitali, Pietro, Brioschi, Simona, Falzarano, Maria S, Rimessi, Paola, Ciccone, Roberto, Ashton, Emma, McCauley, Joanne, Yau, Shu, Abbs, Stephen, Muntoni, Francesco, Merlini, Luciano, Gualandi, Francesca, Ferlini, Alessandra

“…The commonest pathogenic DMD changes are intragenic deletions/duplications which make up to 78% of all cases and point mutations (roughly 20%) detectable…”
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Erratum to: De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report by Gagliardi, Stella, Grieco, Gaetano Salvatore, Gualandi, Francesca, Caniatti, Luisa Maria, Groppo, Elisabetta, Valente, Marialuisa, Giuseppe, Nappi, Neri, Marcella, Cereda, Cristina

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De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report by Gagliardi, Stella, Grieco, Gaetano Salvatore, Gualandi, Francesca, Caniatti, Luisa Maria, Groppo, Elisabetta, Valente, Marialuisa, Nappi, Giuseppe, Neri, Marcella, Cereda, Cristina

“…Background Sporadic Hemiplegic Migraine is a rare form of migraine headache. Mutations in three different genes, two ion-channel genes and one encoding an ATP…”
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Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family by Bigoni, Stefania, Neri, Marcella, Scotton, Chiara, Farina, Roberto, Sabatelli, Patrizia, Jiang, Chongyi, Zhang, Jianguo, Falzarano, Maria Sofia, Rossi, Rachele, Ognibene, Davide, Selvatici, Rita, Gualandi, Francesca, Bosshardt, Dieter, Perri, Paolo, Campa, Claudio, Brancati, Francesco, Salvatore, Marco, De Stefano, Maria Chiara, Taruscio, Domenica, Trombelli, Leonardo, Fang, Mingyan, Ferlini, Alessandra

“…Only a few genes involved in teeth development and morphology are known to be responsible for tooth abnormalities in Mendelian-inherited diseases. We studied…”
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The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy by Neri, Marcella, Valli, Emanuele, Alfano, Giovanna, Bovolenta, Matteo, Spitali, Pietro, Rapezzi, Claudio, Muntoni, Francesco, Banfi, Sandro, Perini, Giovanni, Gualandi, Francesca, Ferlini, Alessandra

“…In X-linked dilated cardiomyopathy due to dystrophin mutations which abolish the expression of the M isoform (5'-XLDC), the skeletal muscle is spared through…”
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Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies by Bovolenta, Matteo, Neri, Marcella, Martoni, Elena, Urciuolo, Anna, Sabatelli, Patrizia, Fabris, Marina, Grumati, Paolo, Mercuri, Eugenio, Bertini, Enrico, Merlini, Luciano, Bonaldo, Paolo, Ferlini, Alessandra, Gualandi, Francesca

“…Molecular characterization of collagen-VI related myopathies currently relies on standard sequencing, which yields a detection rate approximating 75-79% in…”
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Reply to the correspondence: “Looking back the importance of genetics in a patient with Parkinson disease and deep brain stimulation", by Salles et al by Neri, Marcella, Sensi, Mariachiara

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Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis by Ferlini, Alessandra, Bovolenta, Matteo, Neri, Marcella, Gualandi, Francesca, Balboni, Alessandra, Yuryev, Anton, Salvi, Fabrizio, Gemmati, Donato, Liboni, Alberto, Zamboni, Paolo

“…Multiple sclerosis (MS) is a complex disorder thought to result from an interaction between environmental and genetic predisposing factors which have not yet…”
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ADHD and Its Many Associated Problems by Ferlini, Alessandra, Neri, Marcella

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Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis by Falco, Michele, Scuderi, Carmela, Musumeci, Sebastiano, Sturnio, Maurizio, Neri, Marcella, Bigoni, Stefania, Caniatti, Luisa, Fichera, Marco

“…The most common form of autosomal dominant hereditary spastic paraplegia is caused by mutations in the gene encoding spastin (SPG4), a member of the AAA family…”
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Biomarkers in rare neuromuscular diseases by Scotton, Chiara, Passarelli, Chiara, Neri, Marcella, Ferlini, Alessandra

“…Neuromuscular diseases (NMDs) comprise a range of rare disorders that include both hereditary peripheral neuropathies and myopathies. The heterogeneity and…”
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Parkinson's disease-dementia in trans LRP10 and GBA variants: Response to deep brain stimulation by Neri, Marcella, Braccia, Arianna, Panteghini, Celeste, Garavaglia, Barbara, Gualandi, Francesca, Cavallo, Michele Alessandro, Scerrati, Alba, Ferlini, Alessandra, Sensi, Mariachiara

“…We report on a patient with Parkinson's disease and dementia who underwent DBS with excellent response in motor features; the genotype is heterozygous for a…”
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AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients by Colucci, Fabiana, Neri, Marcella, Fortunato, Fernanda, Ferlini, Alessandra, Carrozzo, Rosalba, Torraco, Alessandra, Lamantea, Eleonora, Legati, Andrea, Tecilla, Ginevra, Pugliatti, Maura, Sensi, Mariachiara

“…AFG3-like matrix AAA peptidase subunit 2 gene ( AFG3L2 , OMIM * 604,581) biallelic mutations lead to autosomal recessive spastic ataxia-5 SPAX5, OMIM #…”
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Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family—causal or casual? by Colucci, Fabiana, Di Bella, Daniela, Pisciotta, Chiara, Sarto, Elisa, Gualandi, Francesca, Neri, Marcella, Ferlini, Alessandra, Contaldi, Elena, Pugliatti, Maura, Pareyson, Davide, Sensi, Mariachiara

“…Introduction Biallelic intronic AAGGG repeat expansion in the replication factor C subunit 1 (RFC1) gene was recently identified in two/third of patients with…”
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Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia by Nasca, Alessia, Scotton, Chiara, Zaharieva, Irina, Neri, Marcella, Selvatici, Rita, Magnusson, Olafur Thor, Gal, Aniko, Weaver, David, Rossi, Rachele, Armaroli, Annarita, Pane, Marika, Phadke, Rahul, Sarkozy, Anna, Muntoni, Francesco, Hughes, Imelda, Cecconi, Antonella, Hajnóczky, György, Donati, Alice, Mercuri, Eugenio, Zeviani, Massimo, Ferlini, Alessandra, Ghezzi, Daniele

“…We report here the first families carrying recessive variants in the MSTO1 gene: compound heterozygous mutations were identified in two sisters and in an…”
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