Filippo Maria Santorelli

92PUBLICATIONS
268CO-AUTHORS
Gene mappingNeurology and neuromuscular diseasesHaematological tumoursOrganic green chemistryDevelopmental genetics (incl. sex determination)
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Publications (92)

|Sep 19, 2026
Further delineation of 2p13.2-p11.2 deletion syndrome by optical genome mapping.

|Sep 03, 2026
Unexpected Conduction Blocks in SORD-Related Distal Motor Neuropathy: A Case Report.

|Aug 26, 2026
Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants.

|Jul 28, 2026
Neurodevelopmental alterations are key drivers of SPG56.

|Jun 16, 2026
Psychiatric manifestations in Neuronal ceroid lipofuscinoses.

|Jun 03, 2026
HSD17B4-Related Disorder: Defining the Phenotype in Adult-Onset Patients.

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Frequent Collaborators

15 joint publications

Maria Marchese

13 joint publications

Stefano Doccini

7 joint publications

Daniele Galatolo

7 joint publications

Matthis Synofzik