Detalhe da pesquisa
1.
Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans.
Ann Neurol
; 95(3): 442-458, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38062617
2.
Quantification of N-acetyl-l-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease.
Mol Genet Metab
; 142(2): 108489, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38718669
3.
Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses.
Mol Genet Metab
; 142(3): 108512, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38870773
4.
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
5.
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Cytotherapy
; 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38613540
6.
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Brain
; 146(5): 2003-2015, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36315648
7.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Brain
; 146(4): 1420-1435, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36718090
8.
Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.
N Engl J Med
; 381(15): 1422-1433, 2019 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31509666
9.
Longitudinal dysphagia assessment in adult patients with nephropathic cystinosis using the Modified Barium Swallow Impairment Profile.
Muscle Nerve
; 66(2): 223-226, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616433
10.
Feasibility of simultaneous high-resolution anatomical and quantitative magnetic resonance imaging of sciatic nerves in patients with Charcot-Marie-Tooth type 1A (CMT1A) at 7T.
Muscle Nerve
; 66(2): 206-211, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35621349
11.
Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis.
Mol Genet Metab
; 133(4): 386-396, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34226107
12.
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
em Inglês
| MEDLINE | ID: mdl-33373467
13.
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.
N Engl J Med
; 377(17): 1630-1638, 2017 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28976817
14.
Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis.
Muscle Nerve
; 62(6): 681-687, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32737993
15.
Clinical myopathy in patients with nephropathic cystinosis.
Muscle Nerve
; 61(1): 74-80, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31588568
16.
Targeting astrocytes with in vivo gene addition: Can it rescue loss of brain myelin?
Mol Ther
; 32(6): 1602-1603, 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38776907
17.
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.
Mol Genet Metab
; 125(1-2): 118-126, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30031689
18.
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Mol Genet Metab
; 123(3): 337-346, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29397290
19.
Microglial dysfunction as a key pathological change in adrenomyeloneuropathy.
Ann Neurol
; 82(5): 813-827, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29059709
20.
Natural history of neurological abnormalities in cerebrotendinous xanthomatosis.
J Inherit Metab Dis
; 41(4): 647-656, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29484516