Margherita A. Santucci
Bologna, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 27 publications
Expanding the Clinical Spectrum of SPG26: A Case Report and Review of B4GALNT1-Associated Hereditary Spastic Paraplegia.
Journal: Movement disorders clinical practice
Published: January 02, 2025
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep.
Journal: Molecular genetics & genomic medicine
Published: July 31, 2023
Pseudohyperkalemia due to cryohydrocytosis in GLUT1 deficiency syndrome. A case report and literature review.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: December 08, 2022
Electroencephalographic findings in ATRX syndrome: A new case series and review of literature.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: April 05, 2022
BCL-2 expression in primary cutaneous follicle center lymphoma is associated with a higher risk of cutaneous relapses: A study of 126 cases.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: January 14, 2022
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective.
Journal: Disability and rehabilitation
Published: May 19, 2021
Results From an Italian Expanded Access Program on Cannabidiol Treatment in Highly Refractory Dravet Syndrome and Lennox-Gastaut Syndrome.
Journal: Frontiers in neurology
Published: February 26, 2021
Cannabidiol in Pharmacoresistant Epilepsy: Clinical Pharmacokinetic Data From an Expanded Access Program.
Journal: Frontiers in pharmacology
Published: December 04, 2020
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Journal: Brain : a journal of neurology
Published: August 14, 2020
Relationship between plasma concentrations and clinical effects of perampanel: A prospective observational study.
Journal: Epilepsy & behavior : E&B
Published: June 25, 2020
Primary cutaneous peripheral T-cell lymphoma, not otherwise specified: results of a multicentre European Organization for Research and Treatment of Cancer (EORTC) cutaneous lymphoma taskforce study on the clinico-pathological and prognostic features.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: June 13, 2020
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: February 25, 2020
Last Updated: 09/26/2026