Jacopo Sartorelli
Rome, 00165, Italy
Last Updated: 09/26/2026
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Found 21 publications
Onion-Bulb Nerve Roots: An Imaging Clue to Charcot-Marie-Tooth Disease Type 1D.
Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
Published: July 09, 2026
Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotype.
Journal: Molecular genetics and metabolism
Published: November 13, 2025
Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experience.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: August 27, 2025
Plasma neurofilament light chain in pediatric hereditary spastic paraplegia.
Journal: Journal of the neurological sciences
Published: August 21, 2025
Infantile-Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24-25 Deletion: Expanding the Genotypic Spectrum.
Journal: American journal of medical genetics. Part A
Published: August 19, 2025
Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-up.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: August 06, 2025
Astrocytes differentiated from patient iPSCs model the rare leukodystrophy MLC and uncover disease-linked maturation defects and Kir4.1 channel dysfunction.
Journal: Neurobiology of disease
Published: July 30, 2025
Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: March 29, 2025
Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous Variants.
Journal: Neuropediatrics
Published: February 06, 2025
Genotype variability in early-onset Hereditary Spastic Paraplegia: a single-center study.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: January 08, 2025
Genetic therapies for movement disorders - current status.
Journal: Journal of neurology
Published: January 02, 2025
Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia.
Journal: Brain sciences
Published: December 31, 2024
Last Updated: 09/26/2026