Alessandra Carnazzi

Dataset related to article: EXPANDING THE CLINICAL AND RADIOLOGICAL SPECTRUM OF LGMDR21: FUNCTIONAL VALIDATION OF A NOVEL POGLUT1 C.500G>C MUTATION IN PATIENTS FROM CENTRAL SARDINIA

Nicola Carboni, Giorgia Riolo, Lucia Nicolini De Gaetano, Franco Salerno et autres

Raw sequencing data (FASTQ files) generated from targeted next-generation sequencing (NGS) of a custom multigene panel for congenital muscular dystrophies and inherited myopathies. The dataset includes paired-end sequencing reads obtained from genomic DNA samples of affected individuals and used for variant identification …

it (code pays fourni par la source)

Dataset related to article: EXPANDING THE CLINICAL AND RADIOLOGICAL SPECTRUM OF LGMDR21: FUNCTIONAL VALIDATION OF A NOVEL POGLUT1 C.500G>C MUTATION IN PATIENTS FROM CENTRAL SARDINIA

Nicola Carboni, Giorgia Riolo, Lucia Nicolini De Gaetano, Franco Salerno et autres

Raw sequencing data (FASTQ files) generated from targeted next-generation sequencing (NGS) of a custom multigene panel for congenital muscular dystrophies and inherited myopathies. The dataset includes paired-end sequencing reads obtained from genomic DNA samples of affected individuals and used for variant identification …

it (code pays fourni par la source)

Genetic variability in the PLIN4 gene: A new sequence duplication causing autophagic vacuolar myopathy

Alessandra Carnazzi, Eliana Iannibelli, Sara Gibertini, Lucia Nicolini De Gaetano et autres

it (code pays fourni par la source)

566POptimization of in vitro models’ generation to unveil the molecular pathomechanisms underlying PLIN4-related myopathy

Alessandra Carnazzi, E. Iannibelli, E. Giagnorio, Veronica Sian et autres

it, fi (code pays fourni par la source)

Autosomal recessive Bethlem myopathy: a 30-year journey

Annamaria Gallone, Giorgia Riolo, Alessandra Ruggieri, Eliana Iannibelli et autres

it (code pays fourni par la source)

Evaluation of aggrephagy markers in myofibrillar myopathies

Eliana Iannibelli, Alessandra Ruggieri, Antonello Maruotti, Franco Salerno et autres

Myofibrillar Myopathies (MFMs) are a growing group of muscular disorders genetically determined, whose diagnosis is based on histological features as myofibrillar degeneration, Z-disk disorganization and protein aggregates' accumulation. Protein aggregates that do not fit the proteasome's narrow pore are targeted for removal …

it, gb (code pays fourni par la source)

590P Genetic heterogeneity in PLIN4 gene: characterization of a new pathogenic expansion causing an autophagic vacuolar myopathy

Alessandra Carnazzi, E. Iannibelli, Sara Gibertini, Lucia Nicolini De Gaetano et autres

ca, fr, it (code pays fourni par la source)

60P Evaluation of aggrephagy markers in genetically defined myofibrillar myopathies

E. Iannibelli, Sara Gibertini, A. Maruotti, Franco Salerno et autres