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Author Details

Romina Romaniello
IRCCS Mondino Foundation
2008
66
20
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37343586A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype.Neuropediatrics2024
37351729New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations.Cerebellum2024
36175354Expanding the natural history of CASK-related disorders to the prenatal period.Dev Med Child Neurol2023
37666983Randomized clinical trial on the effects of a computerized cognitive training for pediatric patients with acquired brain injury or congenital malformation.Sci Rep2023
35584254Remote cognitive training for children with congenital brain malformation or genetic syndrome: a scoping review.J Intellect Disabil2023
35729297Cognitive predictors of Social processing in congenital atypical development.J Autism Dev Disord2023
37119372The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia.J Neurol2023
37301203Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.Am J Hum Genet2023
36788019Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.J Med Genet2023
36580093Congenital isolated unilateral third nerve palsy in children: the diagnostic contribution of high-resolution MR imaging.Neuroradiology2023
36795150Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.J Neurol2023
34085948Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.J Med Genet2022
35743164Superior Cerebellar Atrophy: An Imaging Clue to Diagnose <i>ITPR1</i>-Related Disorders.Int J Mol Sci2022
36064004Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion.Eur J Med Genet2022
36030575EEG at onset and MRI predict long-term clinical outcome in Aicardi syndrome.Clin Neurophysiol2022
33929656Virtual-Reality Performance-Based Assessment of Cognitive Functions in Adult Patients With Acquired Brain Injury: A Scoping Review.Neuropsychol Rev2022
34675124<i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.J Med Genet2022
34487232Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.J Neurol2022
34846692Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.Cerebellum2022
34652506Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.J Neurol2022
34010585Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective.Disabil Rehabil2022
32571897Defining the phenotypical spectrum associated with variants in <i>TUBB2A</i>.J Med Genet2021
33756041Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5.Ann Clin Transl Neurol2021
33640666CASK related disorder: Epilepsy and developmental outcome.Eur J Paediatr Neurol2021
34850608Long-term follow-up in a cohort of children with isolated corpus callosum agenesis at fetal MRI.Ann Clin Transl Neurol2021
35053762SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features.Brain Sci2021
34662720Social prediction in pediatric patients with congenital, non-progressive malformations of the cerebellum: From deficits in predicting movements to rehabilitation in virtual reality.Cortex2021
33958329The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes.AJNR Am J Neuroradiol2021
33277420Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome.Neurology2021
32737135Heterozygous <i>KIF1A</i> variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.J Med Genet2021
30403813Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.Nephrol Dial Transplant2020
31969461Age and sex prevalence estimate of Joubert syndrome in Italy.Neurology2020
31937355Virtual Reality Social Prediction Improvement and Rehabilitation Intensive Training (VR-SPIRIT) for paediatric patients with congenital cerebellar diseases: study protocol of a randomised controlled trial.Trials2020
32732266Characterizing White Matter Tract Organization in Polymicrogyria and Lissencephaly: A Multifiber Diffusion MRI Modeling and Tractography Study.AJNR Am J Neuroradiol2020
32216065Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52.Ann Clin Transl Neurol2020
32536973Targeted next-generation sequencing identifies the disruption of the <i>SHANK3</i> and <i>RYR2</i> genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome.Mol Cytogenet2020
30356099The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.Genet Med2019
30066250The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.Eur Radiol2019
31269740Epilepsy in Tubulinopathy: Personal Series and Literature Review.Cells2019
30783266Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.Genet Med2019
29924823Feasibility of a home-based computerized cognitive training for pediatric patients with congenital or acquired brain damage: An explorative study.PLoS One2018
30016746Tubulin genes and malformations of cortical development.Eur J Med Genet2018
27683483Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum.J Child Neurol2017
28677066Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.Eur Radiol2017
28900662Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.Eur Radiol2017
28838911Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome.AJNR Am J Neuroradiol2017
26932191Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).Eur J Hum Genet2016
26560723Aberrant supracallosal longitudinal bundle: MR features, pathogenesis and associated clinical phenotype.Eur Radiol2016
27444964Automatic localization of cerebral cortical malformations using fractal analysis.Phys Med Biol2016
25008804Mutations in α- and β-tubulin encoding genes: implications in brain malformations.Brain Dev2015
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Maja Steinlin
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Release 1.2