Sara Nuovo | Ricerc@Sapienza

Pubblicazioni

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