Filippo M. Santorelli

Pisa, Italy

Last Updated: 09/26/2026

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Found 405 publications

Expanding the ABCD1 mutation spectrum: a novel variant in X-linked adrenomyeloneuropathy.

Expanding the ABCD1 mutation spectrum: a novel variant in X-linked adrenomyeloneuropathy.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: May 27, 2026

Mitochondrial dysfunction, metabolic quiescence and premature senescence in CMT4B3 fibroblasts.

Mitochondrial dysfunction, metabolic quiescence and premature senescence in CMT4B3 fibroblasts.

Journal: Human molecular genetics

Published: May 19, 2026

Electroclinical features of epilepsy in AUTS2-related syndrome: case description and narrative review.

Electroclinical features of epilepsy in AUTS2-related syndrome: case description and narrative review.

Journal: Seizure

Published: May 18, 2026

Generation and characterization of the hiPSC line CSSi023-A (16154) from a patient with ADOA caused by an OPA1 variant.

Generation and characterization of the hiPSC line CSSi023-A (16154) from a patient with ADOA caused by an OPA1 variant.

Journal: Stem cell research

Published: April 24, 2026

Early Neuroimmune Modulation in Hereditary Cerebellar Ataxias: Experimental Opportunities in Zebrafish Models.

Early Neuroimmune Modulation in Hereditary Cerebellar Ataxias: Experimental Opportunities in Zebrafish Models.

Journal: Cells

Published: April 24, 2026

Ictal and Interictal Language Impairment in RBFOX1-Related Neurodevelopmental Disorder.

Ictal and Interictal Language Impairment in RBFOX1-Related Neurodevelopmental Disorder.

Journal: Pediatric neurology

Published: April 03, 2026

Translational lipidomics reveals BMP and its precursor LPG as biomarkers for CLN5 Batten disease.

Translational lipidomics reveals BMP and its precursor LPG as biomarkers for CLN5 Batten disease.

Journal: bioRxiv : the preprint server for biology

Published: March 27, 2026

Validation of a Cellular Imaging-Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia.

Validation of a Cellular Imaging-Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia.

Journal: Annals of clinical and translational neurology

Published: March 27, 2026

Translational lipidomics reveals BMP and its precursor LPG as biomarkers for CLN5 Batten disease.

Translational lipidomics reveals BMP and its precursor LPG as biomarkers for CLN5 Batten disease.

Journal: bioRxiv : the preprint server for biology

Published: March 27, 2026

Neurodevelopmental alterations are key drivers of SPG56.

Neurodevelopmental alterations are key drivers of SPG56.

Journal: Human molecular genetics

Published: March 06, 2026

Muscle MRI in a patient with chorea acanthocytosis.

Muscle MRI in a patient with chorea acanthocytosis.

Journal: Neuromuscular disorders : NMD

Published: January 02, 2026

ON/OFF Phenomenon in 4-Aminopyridine Therapy in Spinocerebellar Ataxia 27B: Therapeutic and Diagnostic Insights.

ON/OFF Phenomenon in 4-Aminopyridine Therapy in Spinocerebellar Ataxia 27B: Therapeutic and Diagnostic Insights.

Journal: Movement disorders clinical practice

Published: December 23, 2025

Showing 1-12 of 405

Last Updated: 09/26/2026