Detalhe da pesquisa
1.
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.
Mol Genet Metab
; 142(1): 108453, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38522179
2.
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
Am J Hum Genet
; 104(5): 925-935, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982609
3.
Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants.
Neuropediatrics
; 53(2): 115-121, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35026854
4.
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.
Ann Neurol
; 88(2): 264-273, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32342562
5.
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.
Am J Med Genet A
; 182(8): 1906-1912, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573057
6.
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.
Am J Hum Genet
; 96(4): 675-81, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25817015
7.
Janus Kinase Inhibition in the Aicardi-Goutières Syndrome.
N Engl J Med
; 383(10): 986-989, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32877590
8.
Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy.
Am J Med Genet A
; 176(6): 1443-1448, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29696782
9.
ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism.
J Med Genet
; 54(5): 330-337, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27799409
10.
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
Neurogenetics
; 18(4): 185-194, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28842795
11.
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.
Mol Genet Metab
; 122(1-2): 18-32, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28863857
12.
Whole exome sequencing in patients with white matter abnormalities.
Ann Neurol
; 79(6): 1031-1037, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27159321
13.
Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait.
Genet Med
; 17(9): 753-6, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25521335
14.
Consensus statement on preventive and symptomatic care of leukodystrophy patients.
Mol Genet Metab
; 114(4): 516-26, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25577286
15.
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
Mol Genet Metab
; 114(4): 501-515, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25655951
16.
Disease specific therapies in leukodystrophies and leukoencephalopathies.
Mol Genet Metab
; 114(4): 527-36, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25684057
17.
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Am J Med Genet A
; 167A(2): 296-312, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604658
18.
Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.
J Genet Couns
; 23(5): 734-41, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24777551
19.
Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy.
Pediatr Neurol
; 121: 11-19, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34111619
20.
Phenotypic and Imaging Spectrum Associated With WDR45.
Pediatr Neurol
; 109: 56-62, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32387008