Search Results - "Manes, Marta"
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Motor and cognitive outcomes of cerebello-spinal stimulation in neurodegenerative ataxia
Published in Brain (London, England : 1878) (04-09-2021)“…Cerebellar ataxias represent a heterogeneous group of disabling disorders characterized by motor and cognitive disturbances, for which no effective treatment…”
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Natural history and predictors of survival in progressive supranuclear palsy
Published in Journal of the neurological sciences (15-11-2017)“…Progressive supranuclear palsy is a neurodegenerative disorder characterized by high functional disability and rapidly progressive dependency. The predictors…”
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Autoimmune Frontotemporal Dementia: A New Nosological Entity?
Published in Alzheimer disease and associated disorders (01-07-2017)Get full text
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Treatment satisfaction and effectiveness of Lurasidone on quality of life and functioning in adult patients with schizophrenia in the real-world Italian clinical practice: a prospective 3-month observational study
Published in Annals of general psychiatry (05-11-2024)“…Background Although second-generation antipsychotics (SGAs) have proven to be effective therapeutic options for patients with schizophrenia, there is a notable…”
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Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression
Published in Brain (London, England : 1878) (01-12-2023)“…Xeroderma pigmentosum (XP) results from biallelic mutations in any of eight genes involved in DNA repair systems, thus defining eight different genotypes (XPA,…”
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Neurological features and progression in a large cohort with xeroderma pigmentosum
Published in Journal of the neurological sciences (01-12-2023)Get full text
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Cerebello-spinal stimulation in neurodegenerative ataxia: Motor and cognitive outcomes
Published in Journal of the neurological sciences (01-10-2021)Get full text
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Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot
Published in Human genetics (01-08-2023)“…Fatty acid elongase ELOVL5 is part of a protein family of multipass transmembrane proteins that reside in the endoplasmic reticulum where they regulate…”
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Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38
Published in Annals of neurology (01-10-2017)“…Objective Spinocerebellar ataxia 38 (SCA38) is caused by mutations in the ELOVL5 gene, which encodes an elongase involved in the synthesis of polyunsaturated…”
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Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study
Published in Parkinsonism & related disorders (01-06-2019)“…Spinocerebellar Ataxia 38 (SCA38) is caused by ELOVL5 gene mutation, with significant reduction of serum docosahexaenoic acid (DHA) levels. DHA supplementation…”
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Serum neurofilament light in professional soccer players: goal on safety
Published in Neurological sciences (01-08-2022)“…Background Sports-related concussion (SRC) is a subset of mild traumatic brain injuries occurring in contact sports. Most people recover spontaneously, but in…”
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Cognitive reserve and TMEM106B genotype modulate brain damage in presymptomatic frontotemporal dementia: a GENFI study
Published in Brain (London, England : 1878) (01-06-2017)“…Frontotemporal dementia is a heterogeneous neurodegenerative disorder with around a third of cases having autosomal dominant inheritance. There is wide…”
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Frontotemporal dementia and language networks: cortical thickness reduction is driven by dyslexia susceptibility genes
Published in Scientific reports (03-08-2016)“…Variations within genes associated with dyslexia result in a language network vulnerability, and in patients with Frontotemporal Dementia (FTD), language…”
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Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38)
Published in Parkinsonism & related disorders (01-07-2016)“…Abstract Introduction SCA38 (MIM 611805) caused by mutations within the ELOVL5 gene, which encodes an enzyme involved in the synthesis of long-chain fatty…”
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Cognitive reserve and TMEM106B genotype modulate brain damage in pre-symptomatic monogenic FTD: results from the GENFI study (P2.085)
Published in NEUROLOGY (18-04-2017)“…Abstract only…”
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