| Titolo |
Pubblicato in |
Anno |
| CASK related disorder: Epilepsy and developmental outcome |
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY |
2021 |
| Novel unconventional variants expand the allelic spectrum of OPHN1 gene |
AMERICAN JOURNAL OF MEDICAL GENETICS. PART A |
2021 |
| Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective |
DISABILITY AND REHABILITATION |
2021 |
| Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study |
JOURNAL OF MEDICAL GENETICS |
2021 |
| Clinical variability at the mild end of BRAT1‐related spectrum:evidence from two families with genotype–phenotype discordance |
HUMAN MUTATION |
2021 |
| Age and sex prevalence estimate of Joubert syndrome in Italy |
NEUROLOGY |
2020 |
| Healthcare recommendations for Joubert syndrome |
AMERICAN JOURNAL OF MEDICAL GENETICS. PART A |
2020 |
| The use of new mobile and gaming technologies for the assessment and rehabilitation of people with ataxia: a systematic review and meta-analysis |
CEREBELLUM |
2020 |
| A novel IRF2BPL truncating variant is associated with endolysosomal storage |
MOLECULAR BIOLOGY REPORTS |
2020 |
| A clinical diagnostic algorithm for early onset cerebellar ataxia |
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY |
2019 |
| The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis |
EUROPEAN RADIOLOGY |
2019 |
| Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome |
NEPHROLOGY DIALYSIS TRANSPLANTATION |
2018 |
| Genetics of cerebellar disorders |
Handbook of Clinical Neurology |
2018 |
| Between SCA5 and SCAR14: Delineation of the SPTBN2 p.R480W-associated phenotype |
EUROPEAN JOURNAL OF HUMAN GENETICS |
2018 |
| Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects |
AMERICAN JOURNAL OF HUMAN GENETICS |
2017 |
| Targeted Next Generation Sequencing in patients with Myotonia Congenita |
CLINICA CHIMICA ACTA |
2017 |
| Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation |
EUROPEAN RADIOLOGY |
2017 |
| Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation (European Radiology, (2017), 27, 12, (5080-5092), 10.1007/s00330-017-4945-2) |
EUROPEAN RADIOLOGY |
2017 |
| Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1 |
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION |
2016 |
| Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development |
AMERICAN JOURNAL OF MEDICAL GENETICS. PART A |
2016 |
