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Author Details

Andrea Martinuzzi
Scientific Institute, IRCCS Eugenio Medea, Conegliano-Pieve di Soligo Research Centre
1984
199
42
PMIDPaper TitleJournal TitlePublished Year
36308733Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA-Ataxia.Mov Disord2023
37488619Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation.Orphanet J Rare Dis2023
37498874Harmonization of ICF Body Structures and ICD-11 Anatomic Detail: One foundation for multiple classifications.PLoS One2023
37152989Case report: A novel <i>FARS2</i> deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia.Front Genet2023
37403444The perception of disability in cerebral palsy: a cross-sectional study using the WHODAS 2.0.Dev Neurorehabil2023
37203491Automated ICF Coding of Rehabilitation Notes for Low-Resource Languages via Continual Training of Language Models.Stud Health Technol Inform2023
37301203Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.Am J Hum Genet2023
36795150Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.J Neurol2023
36793119The perceived impact of Covid-19 pandemic on the children with cerebral palsy: the parents' perspective explored within the "6-F words" framework.Child Adolesc Psychiatry Ment Health2023
34652506Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.J Neurol2022
35372684Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.Neurol Genet2022
35853747Muscle MRI in McArdle Disease: A European Multicenter Observational Study.Neurology2022
35360279Functional MRI Studies in Friedreich's Ataxia: A Systematic Review.Front Neurol2022
35858578Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy.Cell Rep2022
36513461Care of patients on home parenteral nutrition during the first year of the COVID-19 pandemic: Management of central line-associated bloodstream infections.Clin Nutr ESPEN2022
36247792Psychiatric symptoms in adult patients with cerebral palsy: A cohort study.Front Neurol2022
3614159320 Years of ICF-International Classification of Functioning, Disability and Health: Uses and Applications around the World.Int J Environ Res Public Health2022
36138628Respiratory Function in Friedreich's Ataxia.Children (Basel)2022
35124541Deep Brain Stimulation in childhood-onset dystonia due to brain pathology. A long-term study.Eur J Paediatr Neurol2022
35069422Multifaceted and Age-Dependent Phenotypes Associated With Biallelic <i>PNPLA6</i> Gene Variants: Eight Novel Cases and Review of the Literature.Front Neurol2022
35140027Erratum to ``Clinical practice guidelines for glycogen storage disease V &amp; VII (McArdle disease and Tarui disease) from an international study group'' [Neuromuscular Disorders 31 (2021) 1296-1310].Neuromuscul Disord2022
34487232Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.J Neurol2022
34239414Editorial: Hereditary Spastic Paraplegias: At the Crossroads of Molecular Pathways and Clinical Options.Front Neurosci2021
33663988Trends observed in bilateral cerebral palsy during a thirty-year period: A cohort study with an ICF-based overview.Pediatr Neonatol2021
34943322Towards Consensus on Good Practices for the Use of New Technologies for Intervention and Support in Developmental Dyslexia: A Delphi Study Conducted among Italian Specialized Professionals.Children (Basel)2021
34965874Ontological modeling of the International Classification of Functioning, Disabilities and Health (ICF): Activities&amp;Participation and Environmental Factors components.BMC Med Inform Decis Mak2021
34435700Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA-Ataxia Working Group.Ann Neurol2021
34538061Nutritional risk and clinical outcomes in critically ill adult patients with COVID-19.Nutr Hosp2021
34848128Clinical practice guidelines for glycogen storage disease V &amp; VII (McArdle disease and Tarui disease) from an international study group.Neuromuscul Disord2021
31489811Reduction in respiratory exacerbation rate in patients with severe bilateral cerebral palsy following daily PEP-mask therapy: a retrospective study.Eur J Phys Rehabil Med2020
31930551Safety and efficacy of interferon γ in friedreich's ataxia.Mov Disord2020
31915823Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.Hum Mol Genet2020
33162876Sensitivity of Neuroimaging Indicators in Monitoring the Effects of Interferon Gamma Treatment in Friedreich's Ataxia.Front Neurosci2020
33470352Incidence of low-triiodothyronine syndrome in patients with septic shock.Rev Bras Ter Intensiva2020
32598172Interaction Between Mitochondrial DNA Variants and Mitochondria/Endoplasmic Reticulum Contact Sites: A Perspective Review.DNA Cell Biol2020
32570683Toward a Harmonized WHO Family of International Classifications Content Model.Stud Health Technol Inform2020
32765386Brain Magnetic Spectroscopy Imaging and Hereditary Spastic Paraplegia: A Focused Systematic Review on Current Landmarks and Future Perspectives.Front Neurol2020
32905109Avoiding the Banality of Evil in Times of COVID-19: Thinking Differently with a Biopsychosocial Perspective for Future Health and Social Policies Development.SN Compr Clin Med2020
32979048Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.Brain2020
32581663Multimodal MRI Longitudinal Assessment of White and Gray Matter in Different SPG Types of Hereditary Spastic Paraparesis.Front Neurosci2020
32153352Efficacy of a Combined Treatment of Botulinum Toxin and Intensive Physiotherapy in Hereditary Spastic Paraplegia.Front Neurosci2020
32246354Psychosocial impact of sport activity in neuromuscular disorders.Neurol Sci2020
31068484Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with <i>SPG7</i>.Neurology2019
31824395Optical Coherence Tomography in a Cohort of Genetically Defined Hereditary Spastic Paraplegia: A Brief Research Report.Front Neurol2019
31330443Becoming a young adult with cerebral palsy.Res Dev Disabil2019
29486301Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases.Neurobiol Dis2018
30237783Functional and Structural Brain Damage in Friedreich's Ataxia.Front Neurol2018
30049352Determinants of mobility in populations of older adults: Results from a cross-sectional study in Finland, Poland and Spain.Maturitas2018
29641485Factors Related to Unemployment in Europe. A Cross-Sectional Study from the COURAGE Survey in Finland, Poland and Spain.Int J Environ Res Public Health2018
29444077Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.PLoS Genet2018
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Collaborators

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Azienda Sanitaria Universitaria Giuliano Isontina
Co-authored papers 6
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The Institute of Neurology, National Hospital for Neurology and Neurosurgery
Co-authored papers 6
Catherine Sykes
University of Sydney
Co-authored papers 4
Vincenzo Della Mea
University of Udine
Co-authored papers 4
Seppo Koskinen
Co-authored papers 4
Ann-Helene Almborg
Institute of Gerontology, Jonkoping University
Co-authored papers 4
Romina Romaniello
IRCCS Mondino Foundation
Co-authored papers 4
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University of Siena
Co-authored papers 4
Coen H van Gool
National Institute for Public Health and the Environment
Co-authored papers 3
Henry Houlden
Institute of Neurology, University College London (UCL)
Co-authored papers 3
Ian H Harding
Co-authored papers 3
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University of Southern California
Co-authored papers 2
Gary F Egan
Monash University
Co-authored papers 2
Robert Jakob
Institut fur Angewandte Zellkultur
Co-authored papers 2
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Radboud University Medical Center
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Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
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Paul M Thompson
University of Southern California
Co-authored papers 2
Giovanni Manfredi
Brain and Mind Research Institute
Co-authored papers 2
Enrico Bertini
IRCCS Bambino Gesu Children's Research Hospital
Co-authored papers 2
Alexandra Durr
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
Co-authored papers 2
Mustafa Sahin
Harvard Medical School
Co-authored papers 2
Alessandro Perin
Co-authored papers 2
Alexis Brice
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
Co-authored papers 2
Joseph G Gleeson
University of California
Co-authored papers 1
Donald J Lollar
a Institute on Development & Disability, Oregon Health & Science University
Co-authored papers 1
Fuki M Hisama
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Release 1.2