Lorenzo Muccioli

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Publications (57)

• Neuropsychological functioning and progression in Lafora disease
  Epilepsia 2026 DOI: 10.1002/epi.70376
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• Claustrum Involvement in New Onset Refractory Status Epilepticus: A Systematic Review
  Annals of Clinical and Translational Neurology 2026 DOI: 10.1002/acn3.70490
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• Extreme cryptogenic new onset refractory status epilepticus/febrile infection‐related epilepsy syndrome: Evidence of profound neuroinflammation and neuronal injury
  Epilepsia 2026 DOI: 10.1002/epi.70157
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• SINEUP-Mediated Overexpression of Endogenous α-Amylase as a Therapeutic Approach in Lafora Disease
  Genes 2026 DOI: 10.3390/genes17030321
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• Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease
  Neurology Genetics 2025 DOI: 10.1212/NXG.0000000000200319
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• The challenge of ultra‐rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants
  Epilepsia Open 2025 DOI: 10.1002/epi4.70104
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• Sleep and Awake EEG Findings in a Patient With Lafora Disease
  Neurology Clinical Practice 2025 DOI: 10.1212/CPJ.0000000000200521
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• Assessment of the potential use of VAL-1221 for Lafora disease: MS-based proteomics for the characterization and quantitation of the biotechnological drug in plasma and cerebrospinal fluid
  2025 DOI: 10.1101/2025.09.17.25335891
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• Impact of neurotoxicity and steroid therapy on cancer progression-free survival in lymphoma patients treated with anti-CD19 CAR T cells
  Neuro-Oncology Practice 2025 DOI: 10.1093/nop/npae128
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• EEG as a predictive biomarker of neurotoxicity in anti-CD19 CAR T-cell therapy
  Journal of Neurology 2025 DOI: 10.1007/s00415-025-13102-3
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• Letter to the Editor: “Record‐Linkage in Population Studies on Epilepsy: Pros and Cons”
  European Journal of Neurology 2025 DOI: 10.1111/ene.70185
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• Blood neurofilament light chain and S100B as biomarkers of neurological involvement and functional prognosis in COVID-19: a multicenter study
  Neurological Sciences 2025 DOI: 10.1007/s10072-024-07964-0
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• VAL-1221 for the treatment of patients with Lafora disease: study protocol for a single-arm, open-label clinical trial
  BMJ Open 2024 DOI: 10.1136/bmjopen-2024-085062
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• Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE
  Maria T. Papadopoulou, Lorenzo Muccioli, Francesca Bisulli +7 more
  Epilepsia Open 2024 DOI: 10.1002/epi4.12930
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• Ictal Bradycardia and Asystole in Sleep-Related Hypermotor Epilepsy: A Study of 200 Patients
  Journal of Clinical Medicine 2024 DOI: 10.3390/jcm13061767
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• Real-world experience with cannabidiol as add-on treatment in drug-resistant epilepsy
  Seizure: European Journal of Epilepsy 2023 DOI: 10.1016/j.seizure.2023.07.009
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• Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data
  Orphanet Journal of Rare Diseases 2023 DOI: 10.1186/s13023-023-02880-6
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• Pseudohyperkalemia due to cryohydrocytosis in GLUT1 deficiency syndrome. A case report and literature review
  Epileptic Disorders 2023 DOI: 10.1002/epd2.20039
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• Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.
  2023 DOI: 10.21203/rs.3.rs-2845960/v1
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• Cognitive and functional connectivity impairment in post-COVID-19 olfactory dysfunction
  NeuroImage: Clinical 2023 DOI: 10.1016/j.nicl.2023.103410
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