Detalhe da pesquisa
1.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
J Med Genet
; 59(9): 888-894, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34675124
2.
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
J Med Genet
; 59(4): 399-409, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34085948
3.
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.
Hum Mutat
; 43(1): 67-73, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34747546
4.
The Use of New Mobile and Gaming Technologies for the Assessment and Rehabilitation of People with Ataxia: a Systematic Review and Meta-analysis.
Cerebellum
; 20(3): 361-373, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-33190189
5.
Novel unconventional variants expand the allelic spectrum of OPHN1 gene.
Am J Med Genet A
; 185(5): 1575-1581, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33638601
6.
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
Am J Hum Genet
; 101(4): 552-563, 2017 Oct 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28965847
7.
Healthcare recommendations for Joubert syndrome.
Am J Med Genet A
; 182(1): 229-249, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31710777
8.
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.
Nephrol Dial Transplant
; 35(7): 1195-1202, 2020 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30403813
9.
A novel IRF2BPL truncating variant is associated with endolysosomal storage.
Mol Biol Rep
; 47(1): 711-714, 2020 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-31583567
10.
The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.
Eur Radiol
; 29(2): 770-782, 2019 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-30066250
11.
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Eur Radiol
; 27(12): 5080-5092, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-28677066
12.
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
Am J Med Genet A
; 170A(2): 297-305, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26639658
13.
Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations.
J Matern Fetal Neonatal Med
; 37(1): 2344718, 2024 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-38679587
14.
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Eur Radiol
; 27(12): 5093, 2017 12.
Artigo
Inglês
| MEDLINE | ID: mdl-28900662
15.
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective.
Disabil Rehabil
; 44(18): 4966-4973, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34010585
16.
CASK related disorder: Epilepsy and developmental outcome.
Eur J Paediatr Neurol
; 31: 61-69, 2021 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-33640666
17.
Age and sex prevalence estimate of Joubert syndrome in Italy.
Neurology
; 94(8): e797-e801, 2020 02 25.
Artigo
Inglês
| MEDLINE | ID: mdl-31969461
18.
Genetics of cerebellar disorders.
Handb Clin Neurol
; 154: 267-286, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29903444
19.
Targeted Next Generation Sequencing in patients with Myotonia Congenita.
Clin Chim Acta
; 470: 1-7, 2017 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-28427807
20.
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype.
Eur J Hum Genet
; 26(7): 928-929, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29795474