Delia Gagliardi

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico — Italy

Medicine · Health Sciences

16h-index1.1kcitations66works8.22yr avg
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Research Topics

Amyotrophic Lateral Sclerosis Research(24), Neurogenetic and Muscular Disorders Research(24), Parkinson's Disease Mechanisms and Treatments(11), Mitochondrial Function and Pathology(9), RNA Research and Splicing(8)

Publications66 total

Contracture-dominant paraneoplastic neuromuscular syndrome following B1 thymoma resection: a case report expanding the spectrum of thymoma-associated autoimmunity
2026Open Access
Skeletal muscle in spinal muscular atrophy: Critical insights from pathogenesis to therapeutic strategies
Neurobiology of Disease·2026Open Access
Case Report: Acute onset hemiparesis in a young man: do not miss Crohn’s disease
Frontiers in Immunology·2025Open Access
Single Nucleotide <i>SMN1</i> Variants in a Cohort of Individuals With Spinal Muscular Atrophy
Neurology Genetics·2025Open Access
High Prevalence of <i>SOD1</i> Pathogenic Variants in the UK Biobank: Implications for Early Intervention in ALS
2025Open Access
Exploring the relationship between dystonia and STN-DBS in Parkinson’s disease: insights from a single-centre cohort
Neurological Sciences·2025· 1 citedOpen Access
Stem Cell-Derived Spinal Cord Organoid Model: Temporal and Cell-Specific Analysis of Molecular Effects of a Risdiplam Analogue (N2.002)
Neurology·2025· 1 cited
Unveiling amyotrophic lateral sclerosis complexity: insights from proteomics, metabolomics, and microbiomics
Brain Communications·2025· 4 citedOpen Access
Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits
Genes·2025Open Access
Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease
Journal of Neurology Neurosurgery & Psychiatry·2024Open Access
Increased frequency of repeat expansion mutations across different populations
Nature Medicine·2024· 54 citedOpen Access
Exploiting the role of CSF NfL, CHIT1, and miR-181b as potential diagnostic and prognostic biomarkers for ALS
Journal of Neurology·2024· 9 citedOpen Access
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability
Nature Genetics·2024· 9 citedOpen Access
G008 Population analysis of repeat expansions indicates increased frequency of pathogenic alleles across different populations
2024· 1 citedOpen Access
Unleashing the potential of mRNA therapeutics for inherited neurological diseases
Brain·2024· 9 citedOpen Access
Early spinal muscular atrophy treatment following newborn screening: A <scp>20‐month</scp> review of the first Italian regional experience
Annals of Clinical and Translational Neurology·2024· 10 citedOpen Access
Adaptive Long‐Read Sequencing Reveals <scp>GGC</scp> Repeat Expansion in <scp><i>ZFHX3</i></scp> Associated with Spinocerebellar Ataxia Type 4
Movement Disorders·2024· 46 citedOpen Access
Investigating the prevalence of <i>MFN2</i> mutations in amyotrophic lateral sclerosis: insights from an Italian cohort
Brain Communications·2024· 4 citedOpen Access
Genomic and transcriptomic advances in amyotrophic lateral sclerosis
Ageing Research Reviews·2023· 15 citedOpen Access
The impact of upper motor neuron involvement on clinical features, disease progression and prognosis in amyotrophic lateral sclerosis
Frontiers in Neurology·2023· 3 citedOpen Access
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Frequent Co-authors

Stefania Corti(39), Giacomo P. Comi(37), Megi Meneri(26), Nereo Bresolin(18), Francesca Magri(13), Irene Faravelli(11), Elena Abati(11), Daniele Velardo(10), Dario Ronchi(10), Roberta Brusa(10), Alessandra Govoni(9), Eleonora Mauri(9), Nicola Ticozzi(9), Gianluca Costamagna(8), Federico Verde(8), Vincenzo Silani(7), Domenica Saccomanno(6), Antonia Ratti(6), Roberto Del Bo(6), Clarissa Rocca(5)