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.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
Clinical myopathy in patients with nephropathic cystinosis.
Muscle Nerve;
61(1): 74-80, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31588568
15.
Targeting astrocytes with in vivo gene addition: Can it rescue loss of brain myelin?
Mol Ther;
2024 May 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38776907
16.
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
17.
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
18.
Microglial dysfunction as a key pathological change in adrenomyeloneuropathy.
Ann Neurol;
82(5): 813-827, 2017 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29059709
19.
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
20.
ABCD1 dysfunction alters white matter microvascular perfusion.
Brain;
140(12): 3139-3152, 2017 Dec 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29136088