Carlo Casali

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

Progetti di Ricerca

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