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
Inglês
| MEDLINE | ID: mdl-38522179
2.
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Cytotherapy
; 2024 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38613540
3.
Effect of vitamin D supplementation on cerebral blood flow in male patients with adrenoleukodystrophy.
J Neurosci Res
; 101(7): 1086-1097, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36967233
4.
Acute flaccid myelitis: cause, diagnosis, and management.
Lancet
; 397(10271): 334-346, 2021 01 23.
Artigo
Inglês
| MEDLINE | ID: mdl-33357469
5.
Nocturnal Hypoventilation as a Respiratory Complication of Acute Flaccid Myelitis.
J Pediatr
; 248: 122-125, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35605645
6.
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.
Ann Neurol
; 88(2): 264-273, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32342562
7.
MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.
J Inherit Metab Dis
; 44(3): 728-739, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33373467
8.
Allogeneic HSCT for adult-onset leukoencephalopathy with spheroids and pigmented glia.
Brain
; 143(2): 503-511, 2020 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31840744
9.
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.
Mol Genet Metab
; 122(3): 134-139, 2017 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28739201
10.
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.
Mol Genet Metab
; 122(1-2): 18-32, 2017 09.
Artigo
Inglês
| MEDLINE | ID: mdl-28863857
11.
Acute flaccid myelitis: A clinical review of US cases 2012-2015.
Ann Neurol
; 80(3): 326-38, 2016 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27422805
12.
Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.
Ann Neurol
; 79(3): 379-86, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26642834
13.
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
Hum Mutat
; 36(1): 69-78, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25265257
14.
Consensus statement on preventive and symptomatic care of leukodystrophy patients.
Mol Genet Metab
; 114(4): 516-26, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25577286
15.
Disease specific therapies in leukodystrophies and leukoencephalopathies.
Mol Genet Metab
; 114(4): 527-36, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25684057
16.
Acute Flaccid Myelitis of Unknown Etiology in California, 2012-2015.
JAMA
; 314(24): 2663-71, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26720027
17.
Acute flaccid paralysis with anterior myelitis - California, June 2012-June 2014.
MMWR Morb Mortal Wkly Rep
; 63(40): 903-6, 2014 Oct 10.
Artigo
Inglês
| MEDLINE | ID: mdl-25299608
18.
Serum autoantibodies to myelin peptides distinguish acute disseminated encephalomyelitis from relapsing-remitting multiple sclerosis.
Mult Scler
; 19(13): 1726-33, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23612879
19.
Brain Magnetic Resonance Imaging Abnormalities in Acute Flaccid Myelitis.
Pediatr Neurol
; 149: 56-62, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37797356
20.
A Phase 1 Study of Oral Vitamin D3 in Boys and Young Men With X-Linked Adrenoleukodystrophy.
Neurol Genet
; 9(2): e200061, 2023 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-37090939