Research project from disease

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

2518 results found
Current
GENETIC DISEASES OF MITOCHONDRIAL SHAPE: INTEGRATED APPROACHES TO UNDERSTAND PATHOGENESIS AND ESTABLISH TREATMENTS

Researcher LUCA SCORRANO
Diseases Optic atrophy, type I | Charcot-Marie-Tooth disease type 2A2

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
NOVEL THERAPEUTIC INTERVENTIONS FOR CEREBRAL CAVERNOUS MALFORMATIONS

Researcher ELISABETTA DEJANA
Diseases Cerebral cavernous malformation

Current
DISSECTING THE MOLECULAR MECHANISMS UNDERLYING ENDOCYTIC DYSFUNCTIONS INDUCED BY MUTATIONS IN OCRL AND CLC5 TO IDENTIFY CORRECTORS FOR LOWE SYNDROME AND DENT DISEASE

Researcher MARIA ANTONIETTA DE MATTEIS
Diseases Lowe oculocerebrorenal syndrome | Dent disease, type 1

Current
CELL THERAPY FOR CRIGLER-NAJJAR TYPE I SYNDROME USING HUMAN ADULT LIVER STEM CELLS

Researcher FIORELLA ALTRUDA
Diseases Crigler-Najjar syndrome

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

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

Current
IN-DEPTH PHENOTYPING AND EXPERIMENTAL THERAPY OF AUTOSOMAL DOMINANT OSTEOPETROSIS

Researcher ANNA MARIA TETI
Diseases Osteopetrosis, autosomal dominant 2