Detalhe da pesquisa
1.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Am J Hum Genet
; 111(1): 200-210, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38118446
2.
Magnetic resonance fingerprinting-based myelin water fraction mapping for the assessment of white matter maturation and integrity in typical development and leukodystrophies.
NMR Biomed
; 37(6): e5114, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38390667
3.
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
4.
Unilateral deep brain stimulation (DBS) of nucleus ventralis intermedius thalami (Vim) for the treatment of post-traumatic tremor in children: a multicentre experience.
Childs Nerv Syst
; 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38573550
5.
NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review.
Int J Mol Sci
; 25(5)2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38474113
6.
Further characterization of NFIB-associated phenotypes: Report of two new individuals.
Am J Med Genet A
; 191(2): 540-545, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36321570
7.
Expanding the natural history of CASK-related disorders to the prenatal period.
Dev Med Child Neurol
; 65(4): 544-550, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36175354
8.
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
9.
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
10.
DNA Methylation Biomarkers for Young Children with Idiopathic Autism Spectrum Disorder: A Systematic Review.
Int J Mol Sci
; 24(11)2023 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37298088
11.
Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae.
Int J Mol Sci
; 24(23)2023 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38068960
12.
Neurovisual Manifestations in Children with Mild COVID-19: An Association to Remember.
Neuroophthalmology
; 47(2): 75-78, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36891409
13.
De novo GRIN2A variants associated with epilepsy and autism and literature review.
Epilepsy Behav
; 129: 108604, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35217385
14.
Trehalose Treatment in Zebrafish Model of Lafora Disease.
Int J Mol Sci
; 23(12)2022 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35743315
15.
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
Int J Mol Sci
; 23(23)2022 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36498898
16.
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.
Am J Hum Genet
; 103(4): 621-630, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290154
17.
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients.
Mol Genet Metab
; 134(4): 353-358, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34865968
18.
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
Cerebellum
; 20(4): 596-605, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33619652
19.
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Am J Med Genet A
; 185(1): 15-25, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33029936
20.
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Int J Mol Sci
; 22(16)2021 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34445196