Research project from disease

Telethon implements a series of projects for the treatment of genetic diseases. Consult the archive.

2537 results found
Current
MECHANISMS OF FIBROSIS IN MUSCULAR DYSTROPHIES

Researcher STEFANO AUGUSTO MARIA BIRESSI
Diseases Duchenne muscular dystrophy

Current
VECTOR SAFETY STUDIES

Researcher EUGENIO MONTINI
Diseases Chronic granulomatous disease | Krabbe Disease | Thalassemia beta | Mucopolysaccharidosis type I

Current
MITMED CONSORTIUM: FROM THE IDENTIFICATION AND CHARACTERIZATION OF NUCLEAR GENES RESPONSIBLE FOR HUMAN MITOCHONDRIAL DISORDERS TOWARDS POTENTIAL THERAPEUTIC APPROACHES IN EXPERIMENTAL MODELS

Researcher DANIELE GHEZZI
Diseases Leigh Syndrome | MERRF syndrome | Mitochondrial Complex IV deficiency | Mitochondrial complex I deficiency

Current
GENE THERAPY AND LONG TERM EVALUATION OF DIFFERENT DIETARY REGIMENS IN A GLYCOGEN STORAGE DISEASE TYPE III KO MOUSE MODEL

Researcher GIACOMO PIETRO COMI
Diseases Glycogen storage disease type III

Current
POTENTIAL THERAPEUTIC EFFECT OF BETA3-ADRENERGIC RECEPTOR AGONISTS ON X-LINKED NEPHROGENIC DIABETES INSIPIDUS

Researcher MARIA SVELTO
Diseases Diabetes insipidus, nephrogenic, X-linked

Current
NEW EXPLOITATION OF A PORPHYRIN: CHARACTERIZATION OF THE MECHANISM OF ACTION AND PRECLINICAL STUDIES IN MOUSE MODELS OF GENETIC PRION DISEASE

Researcher ROBERTO CHIESA
Diseases Creutzfeldt-Jakob disease | Gerstmann-Straussler disease | Fatal familial insomnia

Current
OXIDATIVE STRESS AND CEREBRAL CAVERNOUS MALFORMATIONS (CCM): FROM DISEASE MECHANISMS TOWARD PREVENTION AND TREATMENT

Researcher SAVERIO FRANCESCO RETTA
Diseases Cerebral cavernous malformation

Current
GENOTYPE-PHENOTYPE CORRELATIONS, NOVEL PATHOGENETIC MECHANISMS, AND PILOT CLINICAL STUDIES IN NEONATAL EPILEPSIES ASSOCIATED TO MUTATIONS IN THE KCNQ2/3 POTASSIUM CHANNEL GENES

Researcher MAURIZIO TAGLIALATELA
Diseases Seizures, benign familial neonatal, 1 | Seizures, benign familial neonatal, 2 | Epileptic encephalopathy, early infantile, 7

Current
EXPLORING THE PATHOGENETIC BASIS OF ICF SYNDROME WITH HUMAN INDUCED PLURIPOTENT STEM CELLS

Researcher MARIA R. MATARAZZO
Diseases Immunodeficiency-centromeric instability-facial anomalies syndrome