Detalhe da pesquisa
1.
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Hum Mol Genet;
32(4): 580-594, 2023 01 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36067010
2.
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Brain;
2024 Mar 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38456468
3.
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.
J Med Genet;
60(8): 791-796, 2023 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36581449
4.
Congenital melanocytic naevus syndrome and Dandy-Walker malformation - a mistaken association: case report and literature review.
Neuroradiology;
65(6): 1077-1086, 2023 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37093228
5.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Genet Med;
24(10): 2194-2203, 2022 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36001086
6.
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Mov Disord;
37(10): 2139-2146, 2022 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35876425
7.
Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cysts.
Neuroradiology;
64(11): 2163-2177, 2022 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35670822
8.
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Ann Neurol;
88(5): 867-877, 2020 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32808683
9.
Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development-a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis.
Childs Nerv Syst;
37(7): 2375-2379, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33247381
10.
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Mov Disord;
35(8): 1357-1368, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32472658
11.
KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement.
J Peripher Nerv Syst;
25(2): 117-124, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32096284
12.
An Unusual Cause of Chronic Headache in an Adolescent Boy: A Case Report.
Neuropediatrics;
50(6): 395-399, 2019 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31529425
13.
Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification.
Neuropediatrics;
47(2): 123-7, 2016 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26859818
14.
International Consensus Statement on the Radiological Evaluation of Dysraphic Malformations of the Spine and Spinal Cord.
AJNR Am J Neuroradiol;
2024 Feb 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38360788
15.
Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event.
Eur J Hum Genet;
31(1): 73-80, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36202930
16.
Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions.
Front Neurol;
14: 1219324, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37564735
17.
Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia.
Cells;
12(7)2023 03 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37048120
18.
Intraoperative MRI Assessment of the Tissue Damage during Laser Ablation of Hypothalamic Hamartoma.
Diagnostics (Basel);
13(14)2023 Jul 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37510075
19.
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.
Neurology;
100(21): e2214-e2223, 2023 05 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37041080
20.
Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes.
medRxiv;
2023 Dec 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38196629