User profiles for "author:Valentina Serpieri"
VALENTINA SERPIERIPost-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 …
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 …
congenital ocular motor apraxia (COMA), developmental delay (DD), intellectual disability …
Age and sex prevalence estimate of Joubert syndrome in Italy
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 …
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 …
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 …
heterogeneous disorders characterised by concurrent hypoplasia of the pons and the …
A novel IRF2BPL truncating variant is associated with endolysosomal storage
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 …
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 …
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 …
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 …
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 …
leading genetic cause of intellectual disability. The alteration of one‐carbon metabolism was …