VS
Vincenzo Salpietro
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genetics and Neurodevelopmental Disorders · Genomics and Rare Diseases · Epilepsy research and treatment
0000-0003-0132-7921
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Publications (41)
- Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum Save
- A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea. Save
- A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function. Save
- A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy. Save
- Correction to: Expanding the genetic heterogeneity of intellectual disability. Save
- PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly. Save
- Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Save
- Expanding the genetic heterogeneity of intellectual disability. Save
- Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia. Save
- The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders. Save
- Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. Save
- PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Save
- Pediatric Idiopathic Intracranial Hypertension: Age, Gender, and Anthropometric Features at Diagnosis in a Large, Retrospective, Multisite Cohort. Save
- Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities. Save
- PKD or Not PKD: That is the question. Save
- 3T Double Inversion Recovery Magnetic Resonance Imaging: diagnostic advantages in the evaluation of cortical development anomalies. Save
- Delineation of the movement disorders associated with FOXG1 mutations. Save
- Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency. Save
- De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. Save
- A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study. Save