Results
author = "BRESOLIN, NEREO"
Correlation of Circulating CD133+ Progenitor Subclasses with a Mild Phenotype in Duchenne Muscular Dystrophy Patients
Author(s) :
Marchesi, Chiara
,
Belicchi, Marzia
,
Meregalli, Mirella
,
Farini, Andrea
,
Cattaneo, Alessandra
,
Parolini, Daniele
Description :
Repository :
Europe PubMed Central
Language(s) :
English
The Low-Affinity Receptor for Neurotrophins p75NTR Plays a Key Role for Satellite Cell Function in Muscle Repair Acting via RhoA
Author(s) :
Deponti, Daniela
,
Buono, Roberta
,
Catanzaro, Giuseppina
,
De Palma, Clara
,
Longhi, Renato
,
Meneveri, Raffaella
,
Bresolin, Nereo
Description :
Regeneration of muscle fibers, lost during pathological muscle degeneration or after injuries, is mediated by the production of new myofibres. This process, sustained by the resident stem cells of the muscle, the satellite cells, is finely regulated by local cues, in particular by cytokines and grow...
Repository :
Europe PubMed Central
Language(s) :
English
Diverse Evolutionary Histories for β-adrenoreceptor Genes in Humans
Author(s) :
Cagliani, Rachele
,
Fumagalli, Matteo
,
Pozzoli, Uberto
,
Riva, Stefania
,
Comi, Giacomo P.
,
Torri, Federica
,
Macciardi, Fabio
Description :
In humans, three genes—ADRB1, ADRB2 and ADRB3—encode β-adrenoreceptors (ADRB); these molecules mediate the action of catecholamines in multiple tissues and play pivotal roles in cardiovascular, respiratory, metabolic, and immunological functions. Genetic variants in ADRB genes have been associated w...
Repository :
Europe PubMed Central
Language(s) :
English
Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation
Author(s) :
Riboldi, Giulietta
,
Del Bo, Roberto
,
Ranieri, Michela
,
Magri, Francesca
,
Sciacco, Monica
,
Moggio, Maurizio
,
Bresolin, Nereo
Description :
Transthyretin (TTR) amyloidosis, the most frequent form of hereditary amyloidosis, is caused by dominant mutations in the TTR gene. More than 100 mutations have been identified. Clinical manifestations of TTR amyloidosis are usually induced by extracellular amyloid deposition in several organs. The ...
Repository :
Europe PubMed Central
Language(s) :
English
Neurocognitive Profiles in Duchenne Muscular Dystrophy and Gene Mutation Site
Author(s) :
D’Angelo, Maria Grazia
,
Lorusso, Maria Luisa
,
Civati, Federica
,
Comi, Giacomo Pietro
,
Magri, Francesca
,
Del Bo, Roberto
Description :
The presence of nonprogressive cognitive impairment is recognized as a common feature in a substantial proportion of patients with Duchenne muscular dystrophy. To investigate the possible role of mutations along the dystrophin gene affecting different brain dystrophin isoforms and specific cognitive...
Repository :
Europe PubMed Central
Language(s) :
English
Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion
Author(s) :
MEOLA, GIOVANNI
,
MANCINELLI, ENZO
,
BRESOLIN, NEREO
,
COMI, GIACOMO PIETRO
,
SANSONE, VALERIA
,
LUCCHIARI, SABRINA
Description :
Myotonic dystrophy type 2 (DM2) is an autosomal dominant multisystemic disorder caused by a CCTG repeat expansion in intron 1 of the zinc finger protein 9 (ZNF9) gene.
We present a three first-degree relative Italian family (proband, his mother and his sister) with a mild DM2 phenotype associated wi...
Repository :
AIR - Archivio Istituzionale della Ricerca
Language(s) :
English
Correlation of circulanting CD133+ progenitor subclasses with a Mild phenotype in Duchenne Muscular dystrophy patients
Author(s) :
TORRENTE, YVAN
,
MARCHESI, CHIARA
,
BELICCHI, MARZIA LAURA CHIARA
,
MEREGALLI, MIRELLA ANGELA
,
FARINI, ANDREA
,
PAROLINI, DANIELE
Description :
Repository :
AIR - Archivio Istituzionale della Ricerca
Language(s) :
English
Rs5848 Variant Influences GRN mRNA Levels in Brain and Peripheral Mononuclear Cells in Patients with Alzheimer’s Disease
Author(s) :
SCARPINI, ELIO ANGELO
,
GALIMBERTI, DANIELA
,
BRESOLIN, NEREO
,
FENOGLIO, CHIARA
,
VENTURELLI, ELIANA
,
SCALABRINI, DIEGO
Description :
Mutations in the progranulin gene (GRN), causative for Frontotemporal Lobar Degeneration with ubiquitin-immunoreactive neuronal inclusions (FTLD-U), could also be associated with Alzheimer's disease (AD). The influence of GRN genetic variability on susceptibility to AD and on expression levels in a ...
Repository :
AIR - Archivio Istituzionale della Ricerca
Language(s) :
English
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing
Author(s) :
Magri Francesca
,
Del Bo Roberto
,
D'Angelo Maria G
,
Govoni Alessandra
,
Ghezzi Serena
,
Gandossini Sandra
,
Sciacco Monica
Description :
Abstract
Background
Duchenne and Becker Muscular dystrophies (DMD/BMD) are allelic disorders caused by mutations in the dystrophin gene, which encodes a sarcolemmal protein responsible for muscle integrity. Deletions and duplications account for approximately 75% of mutations in DMD...
Repository :
DOAJ-Articles
Language(s) :
English
Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy
Author(s) :
Corti, Stefania
,
Nizzardo, Monica
,
Nardini, Martina
,
Donadoni, Chiara
,
Salani, Sabrina
,
Ronchi, Dario
,
Saladino, Francesca
Description :
Spinal muscular atrophy (SMA), a motor neuron disease (MND) and one of the most common genetic causes of infant mortality, currently has no cure. Patients with SMA exhibit muscle weakness and hypotonia. Stem cell transplantation is a potential therapeutic strategy for SMA and other MNDs. In this stu...
Repository :
Europe PubMed Central
Language(s) :
English