Research project from disease

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

2518 results found
Current
MITCARE-2

Researcher LUCA SCORRANO
Diseases Coenzyme Q10 deficiency | Leber optic atrophy | Leigh Syndrome | Mitochondrial diseases, not elsewhere classified

Current
DISSECTING THE ARISTALESS-RELATED HOMEOBOX EPILEPSY PATH TO FIND DRUGGABLE TARGET MOLECULES

Researcher MARIA GIUSEPPINA MIANO
Diseases Infantile spasm syndrome, X-linked

Current
NOVEL THERAPEUTIC INTERVENTIONS FOR CEREBRAL CAVERNOUS MALFORMATIONS

Researcher ELISABETTA DEJANA
Diseases Cerebral cavernous malformation

Current
SKELETAL MUSCLE AND CIRCULATING MICRORNAS IN MYOTONIC DYSTROPHY TYPE 1

Researcher FABIO MARTELLI
Diseases Myotonic dystrophy 1

Current
PRECLINICAL EVALUATION OF PHARMACOGENETICS AND NEW THERAPEUTIC OPTIONS IN NONDYSTROPHIC MYOTONIAS TOWARD PERSONALIZED MEDICINE

Researcher DIANA CONTE CAMERINO
Diseases Paramyotonia Congenita | Myotonia, potassium-aggravated | Myotonia congenita

Current
IMPROVING MC4R SIGNALING VIA ISOFORM SELECTIVE PI3K TARGETING TO FIGHT MELANOCORTIN OBESITY SYNDROME

Researcher EMILIO HIRSCH
Diseases Obesity, autosomal dominant

Current
REGULATION OF SMN2 SPLICING IN CELL AND MOUSE MODELS OF SPINAL MUSCULAR ATROPHY

Researcher CLAUDIO SETTE
Diseases Spinal Muscular Atrophy