Detalhe da pesquisa
1.
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
Brain
; 144(10): 3020-3035, 2021 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33964137
2.
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
3.
Expanded phenotype of AARS1-related white matter disease.
Genet Med
; 23(12): 2352-2359, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34446925
4.
Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.
J Hum Genet
; 66(10): 1035-1037, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33785861
5.
Neuroimaging findings in leukoencephalopathy with calcifications and cysts: case report and review of the literature.
Neurol Sci
; 42(11): 4471-4487, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34482485
6.
Type I Interferon Signature in NOTCH1-Related Leukoencephalopathy.
Ann Neurol
; 93(5): 1041-1043, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36892079
7.
Sudden infant death syndrome: the role of multidisciplinary teams. Experience of the SIDS-ALTE Center of Liguria Region.
Minerva Pediatr
; 71(2): 196-200, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460552
8.
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
Neurogenetics
; 19(2): 111-121, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29691679
9.
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.
Brain
; 140(10): 2550-2556, 2017 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28969374
10.
Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations.
Neurogenetics
; 15(1): 41-8, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24202401
11.
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations.
Hum Mol Genet
; 21(10): 2166-80, 2012 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22328087
12.
Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?
Cerebellum
; 13(1): 79-88, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24013853
13.
Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts.
Mol Cell Neurosci
; 56: 307-21, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23851226
14.
Glutathione imbalance in patients with X-linked adrenoleukodystrophy.
Mol Genet Metab
; 109(4): 366-70, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23768953
15.
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
Ann Neurol
; 72(4): 550-8, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23109149
16.
Leukoencephalopathy with spot-like calcifications caused by recessive COL4A2 variants.
Clin Neurol Neurosurg
; 225: 107584, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36603335
17.
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.
Neurogenetics
; 13(3): 205-14, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22552818
18.
"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.
Eur J Hum Genet
; 30(8): 984-988, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35581417
19.
Cobalamin C defect presenting as severe neonatal hyperammonemia.
Eur J Pediatr
; 170(7): 887-90, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21153419
20.
ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: case series.
Endocrinol Diabetes Metab Case Rep
; 20212021 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34013890