CORTESE, ANDREA

CORTESE, ANDREA  

Dipartimento di Biotecnologie Mediche e Medicina Traslazionale  

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Risultati 1 - 20 di 79 (tempo di esecuzione: 0.0 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants 2026 De Grado, AmedeoCortese, Andrea + Article (author) -
Quantitative MRI Assessment Using Variable Echo Time Imaging of Peripheral Nerve Injury in ATTRv Amyloidosis Patients 2025 Cosentino, GiuseppeCortese, AndreaPalladini, GiovanniPichiecchio, Anna + Article (author) -
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis 2024 Facchini, StefanoCortese, Andrea + Article (author) -
Cough Reflex Hypersensitivity in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome–associated Chronic Cough 2024 Cortese, Andrea + Article (author) -
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping 2024 Cortese, Andrea + Article (author) -
AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS neurons 2024 Cortese, Andrea + Article (author) -
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease 2024 Cosentino G.Cortese A. + Article (author) -
Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts 2024 Cortese, AndreaRonco, Riccardo + Article (author) -
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome 2024 Cortese, AndreaZuccotti, Gian V.Corsello, Antonio + Article (author) -
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry 2024 Cortese, AndreaFacchini, StefanoCorti, Stefania P. + Article (author) -
Increased frequency of repeat expansion mutations across different populations 2024 Cortese, Andrea + Article (author) -
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum 2024 Facchini S.Pichiecchio A.Cosentino G.Cortese A. + Article (author) -
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort 2024 Cortese A. + Article (author) -
Contraction or sequence variant of an intergenic repeat-Alu element leads to inherited thyroid disease 2024 Cortese, Andrea + Article (author) -
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease 2024 Cortese, Andrea + Article (author) -
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis 2023 Facchini, StefanoCortese, Andrea + Article (author) -
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants 2023 cortese andrea + Article (author) -
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 2023 Cortese, Andrea + Article (author) -
Muscle quantitative MRI as a novel biomarker in hereditary transthyretin amyloidosis with polyneuropathy: a cross-sectional study 2023 Cortese, AndreaSolazzo, FrancescaLozza, AlessandroCosentino, GiuseppePalladini, GiovanniPichiecchio, Anna + Article (author) -
Contactin-1 links autoimmune neuropathy and membranous glomerulonephritis 2023 Cortese, Andrea + Article (author) -