Detalhe da pesquisa
1.
Visual function in children with Joubert syndrome.
Dev Med Child Neurol
; 66(3): 379-388, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37593819
2.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
J Med Genet
; 60(9): 885-893, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36788019
3.
Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorder.
Am J Med Genet A
; 191(5): 1395-1400, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36756855
4.
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
em Inglês
| MEDLINE | ID: mdl-34675124
5.
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
em Inglês
| MEDLINE | ID: mdl-34085948
6.
Genotype-phenotype correlates in Joubert syndrome: A review.
Am J Med Genet C Semin Med Genet
; 190(1): 72-88, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35238134
7.
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.
Cerebellum
; 21(6): 1144-1150, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34846692
8.
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.
Int J Mol Sci
; 23(12)2022 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35743164
9.
A novel IRF2BPL truncating variant is associated with endolysosomal storage.
Mol Biol Rep
; 47(1): 711-714, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31583567
10.
Human trisomy 21 fibroblasts rescue methotrexate toxic effect after treatment with 5-methyl-tetrahydrofolate and 5-formyl-tetrahydrofolate.
J Cell Physiol
; 234(9): 15010-15024, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30667057
11.
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Orphanet J Rare Dis
; 18(1): 101, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37131188
12.
Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways' Function.
Adv Ther
; 38(1): 278-289, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098555
13.
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1.
Neurol Genet
; 7(6): e631, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34703884
14.
Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment.
Adv Ther
; 37(9): 3827-3838, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32671685
15.
Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene.
Stem Cell Res
; 49: 102007, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33010677
16.
Age and sex prevalence estimate of Joubert syndrome in Italy.
Neurology
; 94(8): e797-e801, 2020 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31969461
17.
Dystonia as Presenting Feature of Compound Heterozygous PMPCA Gene Variants.
Mov Disord Clin Pract
; 10(6): 1020-1023, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37332652