User profiles for "author:Valentina Serpieri"

VALENTINA SERPIERI

Post-doc at Department of Molecular Medicine, University of Pavia
Verified email at universitadipavia.it
Cited by 172

Genotype–phenotype correlates in Joubert syndrome: A review

S Gana, V Serpieri, EM Valente - American Journal of Medical …, 2022 - Wiley Online Library
Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a
pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable …

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum

V Serpieri, F D'Abrusco, JC Dempsey… - Journal of medical …, 2022 - jmg.bmj.com
Background Joubert syndrome (JS) is a recessively inherited ciliopathy characterised by
congenital ocular motor apraxia (COMA), developmental delay (DD), intellectual disability …

Age and sex prevalence estimate of Joubert syndrome in Italy

S Nuovo, I Bacigalupo, M Ginevrino, R Battini… - Neurology, 2020 - AAN Enterprises
Objective To estimate the prevalence of Joubert syndrome (JS) in Italy applying standards of
descriptive epidemiology and to provide a molecular characterization of the described …

Visual function in children with Joubert syndrome

F Morelli, F Toni, E Saligari, F D'Abrusco… - … Medicine & Child …, 2024 - Wiley Online Library
Aim To describe visual function in children with Joubert syndrome and to investigate its
possible association with diagnostic and developmental aspects. Method This retrospective …

Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study

S Nuovo, A Micalizzi, R Romaniello… - Journal of medical …, 2022 - jmg.bmj.com
Background Pontocerebellar hypoplasias (PCH) comprise a group of genetically
heterogeneous disorders characterised by concurrent hypoplasia of the pons and the …

A novel IRF2BPL truncating variant is associated with endolysosomal storage

M Ginevrino, R Battini, S Nuovo, A Simonati… - Molecular Biology …, 2020 - Springer
De novo mutations in the IRF2BPL gene have been identified to date in 18 patients
presenting with neuromotor regression, epilepsy and variable neurological signs. Here, we …

[HTML][HTML] The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued

S Schröder, G Yigit, Y Li, J Altmüller, HM Büttel… - Orphanet Journal of …, 2023 - Springer
Background The term congenital ocular motor apraxia (COMA), coined by Cogan in 1952,
designates the incapacity to initiate voluntary eye movements performing rapid gaze shift, so …

Get your molar tooth right: Joubert syndrome misdiagnosis unmasked by whole-exome sequencing

F D'Abrusco, F Arrigoni, V Serpieri, R Romaniello… - The Cerebellum, 2021 - Springer
Joubert syndrome (JS) is a recessively inherited ciliopathy, characterized by a specific
cerebellar and brainstem malformation recognizable on brain imaging as the “molar tooth …

[HTML][HTML] Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders

R Romaniello, L Pasca, E Panzeri, F D'Abrusco… - International Journal of …, 2022 - mdpi.com
The inositol 1, 4, 5-triphosphate receptor type 1 (ITPR1) gene encodes an InsP3-gated
calcium channel that modulates intracellular Ca2+ release and is particularly expressed in …

Human trisomy 21 fibroblasts rescue methotrexate toxic effect after treatment with 5‐methyl‐tetrahydrofolate and 5‐formyl‐tetrahydrofolate

L Vitale, V Serpieri, M Lauriola… - Journal of Cellular …, 2019 - Wiley Online Library
Trisomy 21 causes Down syndrome (DS), the most common human genetic disorder and the
leading genetic cause of intellectual disability. The alteration of one‐carbon metabolism was …