Research project from disease

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

2538 results found
Current
TELETHON NETWORK OF GENETIC BIOBANKS

Researcher
Diseases

Current
PHENOTYPIC RESCUE OF THE DIGEORGE SYNDROME PHENOTYPE IN MOUSE MODELS

Researcher ANTONIO BALDINI
Diseases DiGeorge Syndrome

Current
CLINICAL, MOLECULAR AND PATHOGENETIC STUDIES OF NEUTRAL LIPID STORAGE DISEASE (NLSD)

Researcher MARCELLO ARCA
Diseases Neutral lipid storage disease with myopathy without ichthyosis

Current
FAMILIAL HEMIPLEGIC MIGRAINE MECHANISMS

Researcher DANIELA PIETROBON
Diseases Hemiplegic Migraine, Familial

Current
NEW STRATEGIES TO TARGET HYPER-EXCITABILITY IN RETT SYNDROME

Researcher ELENA BATTAGLIOLI
Diseases Rett syndrome

Current
PROTEIN MISFOLDING IN CHARCOT-MARIE-TOOTH DISEASE: TOWARDS THE DEVELOPMENT OF A THERAPEUTIC STRATEGY TARGETING THE UNFOLDED PROTEIN RESPONSE

Researcher MAURIZIO D'ANTONIO
Diseases Charcot-Marie-Tooth Disease | Charcot-Marie-Tooth disease type 1B | Charcot-Marie-Tooth disease type 4E | Charcot-Marie-Tooth disease type 3

Current
DETERMINANTS OF NEURODEGENERATION IN ATAXIA TELANGIECTASIA

Researcher DOMENICO DELIA
Diseases Ataxia Telangiectasia

Current
PLASMACYTOID DENDRITC CELLS FUNCTIONS AND AUTOIMMUNITY IN WISKOTT-ALDRICH SYNDROME

Researcher FEDERICA BENVENUTI
Diseases Wiskott-Aldrich Syndrome

Current
EXPLORING PEDF AS THERAPEUTIC AGENT FOR RETINITIS PIGMENTOSA

Researcher VALERIA MARIGO
Diseases Retinitis pigmentosa

Current
MOLECULAR MECHANISMS OF PATHOGENESIS AND PRECLINICAL TREATMENT IN RENAL DISORDERS ASSOCIATED WITH UROMODULIN MUTATIONS

Researcher LUCA RAMPOLDI
Diseases Medullary Cystic Kidney Disease, type 2 | Hyperuricemic nephropathy, familial juvenile | Glomerulocystic kidney disease