Raffaella Minardi

Bologna, Italy

Last Updated: 09/26/2026

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Found 42 publications

Expanding the electroclinical spectrum of TANC2-related disorders: Lennox-Gastaut syndrome and related developmental epileptic phenotypes.

Expanding the electroclinical spectrum of TANC2-related disorders: Lennox-Gastaut syndrome and related developmental epileptic phenotypes.

Journal: Epilepsia open

Published: March 23, 2026

MicroLC-HRMS selective quantification of a biotherapeutic fusion protein in plasma and cerebrospinal fluid of patients with Lafora disease using a linker-containing signature peptide.

MicroLC-HRMS selective quantification of a biotherapeutic fusion protein in plasma and cerebrospinal fluid of patients with Lafora disease using a linker-containing signature peptide.

Journal: Journal of pharmaceutical and biomedical analysis

Published: January 26, 2026

Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy.

Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy.

Journal: Epilepsia

Published: January 17, 2026

Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Journal: Nature genetics

Published: January 06, 2026

Long-Term Motor and Cognitive Outcome of Deep Brain Stimulation in Patients With Parkinson Disease With a GBA1 Pathogenic Variant.

Long-Term Motor and Cognitive Outcome of Deep Brain Stimulation in Patients With Parkinson Disease With a GBA1 Pathogenic Variant.

Journal: Neurology

Published: October 22, 2025

New therapeutic strategies for Lafora disease: Evaluation of the safety, efficacy, pharmacokinetics and metabolomic profile of intravenous VAL-1221 treatment.

New therapeutic strategies for Lafora disease: Evaluation of the safety, efficacy, pharmacokinetics and metabolomic profile of intravenous VAL-1221 treatment.

Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Published: October 13, 2025

Unraveling the role of GBA1 genotype in axial signs response to subthalamic deep brain stimulation.

Unraveling the role of GBA1 genotype in axial signs response to subthalamic deep brain stimulation.

Journal: NPJ Parkinson's disease

Published: June 07, 2025

Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease.

Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease.

Journal: Neurology. Genetics

Published: June 02, 2025

The challenge of ultra-rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants.

The challenge of ultra-rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants.

Journal: Epilepsia open

Published: May 17, 2025

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Journal: Nature genetics

Published: April 11, 2025

LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson disease.

LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson disease.

Journal: Parkinsonism & related disorders

Published: December 10, 2024

National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.

National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.

Journal: Journal of medical genetics

Published: August 19, 2024

Showing 1-12 of 42

Last Updated: 09/26/2026