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carlo.casali@uniroma1.it
Carlo Casali
Professore Associato
Struttura:
DIPARTIMENTO DI SCIENZE E BIOTECNOLOGIE MEDICO-CHIRURGICHE
E-mail:
carlo.casali@uniroma1.it
Pagina istituzionale corsi di laurea
Curriculum Sapienza
Pubblicazioni
Titolo
Pubblicato in
Anno
Comprehensive Cardiovascular Management of Myotonic Dystrophy Type 1 Patients: A Report from the Italian Neuro-Cardiology Network
JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE
2024
Nerve ultrasound in Friedreich's Ataxia: enlarged nerves as a biomarker of disease severity
CLINICAL NEUROPHYSIOLOGY
2024
Optimizing Rare Disease Gait Classification through Data Balancing and Generative AI: Insights from Hereditary Cerebellar Ataxia
SENSORS
2024
The Effect of a Wearable Assistive Trunk Exoskeleton on the Motor Coordination of People with Cerebellar Ataxia
APPLIED SCIENCES
2024
Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients
CLINICAL EPIGENETICS
2024
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
AMERICAN JOURNAL OF HUMAN GENETICS
2023
Identification of gait unbalance and fallers among subjects with cerebellar ataxia by a set of trunk acceleration-derived indices of gait
CEREBELLUM
2022
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations
JOURNAL OF NEUROLOGY
2022
Monoallelic KIF1A‑related disorders: a multicenter cross sectional study and systematic literature review
JOURNAL OF NEUROLOGY
2022
Safety and feasibility of upper limb cardiopulmonary exercise test in Friedreich ataxia
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
2022
Hsa-miR223-3p circulating level is upregulated in Friedreich???s ataxia and inversely associated with HCLS1 associated protein X-1, HAX-1
HUMAN MOLECULAR GENETICS
2022
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network
NEUROLOGY. GENETICS
2022
A clinical and epidemiological prevalence study on Friedreich’s Ataxia in Latium, Italy
NEUROEPIDEMIOLOGY
2022
Retinal and Visual Pathways Involvement in Carriers of Friedreich’s Ataxia
DIAGNOSTICS
2022
A NGS-based analysis on a large cohort of ataxic patients refines the clinical spectrum associated with SCA21
EUROPEAN JOURNAL OF NEUROLOGY
2021
ATTRv in Lazio-Italy: A High-Prevalence Region in a Non-Endemic Country
GENES
2021
NGS in hereditay ataxia: when rare becomes frequent
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
2021
Macular Morpho‐Functional and Visual Pathways Functional Assessment in Patients with Spinocerebellar Type 1 Ataxia with or without Neurological Signs
JOURNAL OF CLINICAL MEDICINE
2021
Roussy-Lévy Syndrome: a case of genotype-fenotype correlation
NEUROLOGICAL SCIENCES
2021
Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival
HUMAN MOLECULAR GENETICS ONLINE
2020
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Progetti di Ricerca
Epidemiologia della SPG4 (Paraparesi spastica ereditaria tipo 4) in Italia
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