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.
Exploring the role of digital tools in rare disease management: An interview-based study.
J Genet Couns
; 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38741243
3.
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
4.
Genetic counseling for consumer-driven whole exome and whole genome sequencing: A commentary on early experiences.
J Genet Couns
; 28(2): 449-455, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30861266
5.
Whole exome sequencing in patients with white matter abnormalities.
Ann Neurol
; 79(6): 1031-1037, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27159321
6.
A de novo mutation in the ß-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
Am J Hum Genet
; 92(5): 767-73, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23582646
7.
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
8.
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
9.
Psychological and social factors in undergoing reconstructive surgery among individuals with craniofacial conditions: an exploratory study.
Cleft Palate Craniofac J
; 50(2): 158-67, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22315960
10.
The impact of false-positive newborn screening results on families: a qualitative study.
Genet Med
; 14(1): 76-80, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22237434
11.
Neurotransmitter abnormalities and response to supplementation in SPG11.
Mol Genet Metab
; 107(1-2): 229-33, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22749184
12.
Family history of autoimmune disease in patients with Aicardi-Goutières syndrome.
Clin Dev Immunol
; 2012: 206730, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23251212
13.
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
14.
Genome sequencing in persistently unsolved white matter disorders.
Ann Clin Transl Neurol
; 7(1): 144-152, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31912665
15.
Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies.
J Child Neurol
; 29(2): 214-20, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24105487
16.
Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy.
Pediatr Neurol
; 50(1): 112-4, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24120652
17.
Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome.
Neurology
; 80(11): 997-1002, 2013 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-23408864
18.
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.
J Child Neurol
; 28(6): 795-800, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22805248
19.
Genetic testing in child neurology.
Semin Pediatr Neurol
; 19(4): 167-72, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23245549
20.
Relative incidence of inherited white matter disorders in childhood to acquired pediatric demyelinating disorders.
Semin Pediatr Neurol
; 19(4): 219-23, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23245555