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Claudio Catalli
Hospital Universitario Cruces, Hospital Virgen de la Salud, Università degli Studi di Roma Tor Vergata Facoltà di Medicina e Chirurgia, Hospital Virgen del Camino
Research areas: Neuroscience · Cellular and Molecular Neuroscience · Genetic Neurodegenerative Diseases · Genomics and Rare Diseases · Hereditary Neurological Disorders
0000-0002-0183-2226
Employment
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Hospital Universitario Cruces Facultativo especialista2017 - Present
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Hospital Virgen de la Salud Adjunto médico con funciones de Jefe de servicio2015 - 2016
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Hospital Virgen del Camino Médico Adjunto2012 - 2015
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Università degli Studi di Roma Tor Vergata Facoltà di Medicina e Chirurgia Research Fellow? - 2010
Education
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Università degli Studi di Roma Tor Vergata Facoltà di Medicina e Chirurgia Genetica Medica? - 2009
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Università degli Studi di Roma Tor Vergata Facoltà di Medicina e Chirurgia Medicina e Chirurgia? - 2006
Projects & Funding
Projects & funding information is unavailable.
Publications (27)
- Non-Ceruloplasmin Copper Identifies a Subtype of Alzheimer’s Disease (CuAD): Characterization of the Cognitive Profile and Case of a CuAD Patient Carrying an RGS7 Stop-Loss Variant Save
- VP.88 Characterisation of cell culture models of myotonic dystrophy type I by In-Cell Western technology and digital droplet PCR Save
- Neuropsychological Profile of Hereditary Ataxias: Study of 38 Patients Save
- Mutations in MME gene causing distal hereditary motor neuropathy and MCI-AD Save
- Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy Save
- Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy Save
- Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy Save
- Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications Save
- Homozygous frameshift mutation in CHDH associated with adult-onset Spastic Ataxia Save
- A novel mutation of RASA1 in capillary malformation-arteriovenous malformation syndrome in a case with spinal cord involvement Save
- Clinical and genetic characteristics of late-onset Huntington's disease Save
- Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study Save
- Cognitive decline in Huntington's disease expansion gene carriers Save
- P114 – 2576: Hypokalemic periodic paralysis: A case report based on clinical and genetic findings Save
- A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation Save
- Suicidal ideation in a European Huntington's disease population. Save
- The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients. Save
- β-Defensin genomic copy number does not influence the age of onset in Huntington's Disease. Save
- Selective Pseudohypertrophy of Vastus Medialis Muscles Associated With Calpain 3 Deficiency Save
- Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 Save