Daniele Galatolo
Pisa, Italy
Last Updated: 09/26/2026
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Found 41 publications
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
Neurodevelopmental alterations are key drivers of SPG56.
Journal: Human molecular genetics
Published: March 06, 2026
Loss of function variants in HPDL impair human cortical development via alterations of mitochondrial function.
Journal: Cell death & disease
Published: September 04, 2025
HPDL Biallelic Variants in Cerebral Palsy and Childhood-Onset Hereditary Spastic Paraplegia: Human and Zebrafish Insights.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: March 25, 2025
Whole Blood DNA Methylation Analysis Reveals Epigenetic Changes Associated with ARSACS.
Journal: Cerebellum (London, England)
Published: January 15, 2025
Modeling sacsin depletion in Danio Rerio offers new insight on retinal defects in ARSACS.
Journal: Neurobiology of disease
Published: October 08, 2024
CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report.
Journal: Cerebellum (London, England)
Published: August 14, 2024
Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 12, 2024
Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish model.
Journal: Neurobiology of disease
Published: February 16, 2024
A Novel Compound Heterozygous Mutation in Aprataxin Causes Slowly Progressive Ataxia without Oculomotor Apraxia.
Journal: Movement disorders clinical practice
Published: January 23, 2024
Proteomics and lipidomic analysis reveal dysregulated pathways associated with loss of sacsin.
Journal: Frontiers in neuroscience
Published: January 23, 2024
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.
Journal: Journal of neurology
Published: May 09, 2023
Last Updated: 09/26/2026