A5071297673- Fetal and Pediatric Neurological Disorders
- Genetic and Kidney Cyst Diseases
- Hedgehog Signaling Pathway Studies
- Genomics and Rare Diseases
- Genetic Neurodegenerative Diseases
- RNA regulation and disease
- Mitochondrial Function and Pathology
- Genetics and Neurodevelopmental Disorders
- Cellular transport and secretion
- Renal and related cancers
- Congenital heart defects research
- Microtubule and mitosis dynamics
- Iron Metabolism and Disorders
- Connective tissue disorders research
- Congenital Anomalies and Fetal Surgery
- Hippo pathway signaling and YAP/TAZ
- Metabolism and Genetic Disorders
- Ocular Disorders and Treatments
- Cardiomyopathy and Myosin Studies
- Traumatic Brain Injury Research
- Glioma Diagnosis and Treatment
- Epigenetics and DNA Methylation
- Craniofacial Disorders and Treatments
- Neurological disorders and treatments
- Cerebrospinal fluid and hydrocephalus
Sapienza University of Rome
2020-2024
University of Salerno
2017-2021
Fondazione Santa Lucia
2017-2021
Fondazione Stella Maris
2020
University of Pisa
2020
University of Pavia
2020
IRCCS Eugenio Medea
2020
University of Rome Tor Vergata
2015-2017
University of Belgrade
2017
Policlinico Tor Vergata
2015
One set of missense mutations in the neuron specific beta tubulin isotype 3 ( TUBB3 ) has been reported to cause malformations cortical development (MCD), while a second isolated or syndromic Congenital Fibrosis Extraocular Muscles type (CFEOM3). Because CFEOM had not associated with malformations, MCD other forms paralytic strabismus, it was hypothesized that each might alter microtubule function differently. Here, however, we report two novel de novo heterozygous amino acid substitutions,...
<h3>Objective</h3> To estimate the prevalence of Joubert syndrome (JS) in Italy applying standards descriptive epidemiology and to provide a molecular characterization described patient cohort. <h3>Methods</h3> We enrolled all patients with neuroradiologically confirmed diagnosis JS who resided 2018 calculated age sex prevalence, assuming Poisson distribution. also investigated correlation between proband chronological at performed next-generation sequencing (NGS) analysis on probands9 DNA...
Background Joubert syndrome (JS) is a recessively inherited ciliopathy characterised by congenital ocular motor apraxia (COMA), developmental delay (DD), intellectual disability, ataxia, multiorgan involvement, and unique cerebellar brainstem malformation. Over 40 JS-associated genes are known with diagnostic yield of 60%–75%. In 2018, we reported homozygous hypomorphic missense variants the SUFU gene in two families mild JS. Recently, heterozygous truncating were identified dominantly COMA,...
Background Pontocerebellar hypoplasias (PCH) comprise a group of genetically heterogeneous disorders characterised by concurrent hypoplasia the pons and cerebellum variable clinical imaging features. The current classification includes 13 subtypes, with ~20 known causative genes. Attempts have been made to delineate phenotypic spectrum associated specific PCH genes, yet neuroradiological features are not consistent across studies, making it difficult define gene-specific outcomes. Methods We...
Abstract Background Joubert syndrome (JS) is an inherited ciliopathy characterized by a complex midbrain–hindbrain malformation and multiorgan involvement. Renal disease, mainly juvenile nephronophthisis (NPH), was reported in 25–30% patients although only ∼18% had confirmed diagnosis of chronic kidney disease (CKD). NPH often remains asymptomatic for many years, resulting delayed diagnosis. The aim the study to identify biomarker able quantify risk progressive CKD young children with JS....
Biallelic mutations in the BRAT1 gene, encoding BRCA1-associated ATM activator 1, result variable phenotypes, from rigidity and multifocal seizure syndrome, lethal neonatal to neurodevelopmental disorder, cerebellar atrophy with or without seizures, obvious genotype-phenotype associations.We describe two families at mildest end of spectrum, differing clinical presentation despite a common genotype locus.Two siblings displayed nonprogressive congenital ataxia shrunken cerebellum on magnetic...
Abstract Mutations in the OPHN1 gene cause a rare X‐linked recessive neurodevelopmental disorder characterized by intellectual disability, variably associated with cerebellar hypoplasia and distinctive facial appearance. In most of cases so far reported, identified genomic variants involve region encoding central RhoGAP domain oligophrenin‐1 protein, are predicted to result complete loss function. By using NGS‐based diagnostic approach, we three male female patients from two unrelated...
Holoprosencephaly (HPE) is the most common aberration of forebrain development, and it leads to a wide spectrum developmental craniofacial anomalies. HPE etiology highly heterogeneous includes both chromosomal abnormalities single-gene defects.
Background Joubert Syndrome (JS) is a rare inherited neurodevelopmental disorder defined by characteristic cerebellar and brainstem malformation (i.e. the molar tooth sign) variable organ involvement. The aim of present study was to describe functional limitations disabilities in large sample adult patients with diagnosis JS.Methods We administered International Classification Functioning (ICF) checklist thirty-six Italian JS or their caregivers through telephone calls.Results None-to-mild...