Carlo Casali

Pubblicazioni

Titolo Pubblicato in Anno
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
Impairment of Global Lower Limb Muscle Coactivation During Walking in Cerebellar Ataxias CEREBELLUM 2020
Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications JOURNAL OF NEUROLOGY 2020
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment GENETICS IN MEDICINE 2020
Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study LANCET NEUROLOGY 2020
Spastin recovery in hereditary spastic paraplegia by preventing neddylation-dependent degradation LIFE SCIENCE ALLIANCE 2020
Locomotor coordination in patients with Hereditary Spastic Paraplegia JOURNAL OF ELECTROMYOGRAPHY AND KINESIOLOGY 2019

Progetti di Ricerca

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