Detalhe da pesquisa
1.
Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.
Genet Med
; 26(2): 101027, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37955240
2.
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
3.
Progressive encephalopathy after routine 4-month immunizations in a patient with NAXD genetic variant.
Am J Med Genet A
; 194(5): e63519, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38214124
4.
Neurological aspects of human glycosylation disorders.
Annu Rev Neurosci
; 38: 105-25, 2015 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25840006
5.
Current directions in tau research: Highlights from Tau 2020.
Alzheimers Dement
; 18(5): 988-1007, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34581500
6.
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Mol Genet Metab
; 133(4): 397-399, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34140212
7.
Developments in evidence creation for treatments of inborn errors of metabolism.
J Inherit Metab Dis
; 44(1): 88-98, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32944978
8.
Safety and efficacy of (+)-epicatechin in subjects with Friedreich's ataxia: A phase II, open-label, prospective study.
J Inherit Metab Dis
; 44(2): 502-514, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32677106
9.
Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment.
J Inherit Metab Dis
; 44(6): 1463-1480, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34418116
10.
Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.
Am J Med Genet A
; 182(4): 652-658, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883306
11.
Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study.
J Inherit Metab Dis
; 43(5): 1060-1069, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32324281
12.
Neurological Complications of Measles (Rubeola).
Curr Neurol Neurosci Rep
; 20(2): 2, 2020 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32034528
13.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Hum Mutat
; 40(7): 908-925, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30817854
14.
LGI1 and CASPR2 neurological autoimmunity in children.
Ann Neurol
; 84(3): 473-480, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30076629
15.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
J Inherit Metab Dis
; 42(1): 5-28, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740725
16.
The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations.
Am J Kidney Dis
; 72(2): 302-308, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29395486
17.
Risk and potential of ChatGPT in scientific publishing.
J Inherit Metab Dis
; 46(6): 1005-1006, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534774
18.
Guidelines in the JIMD: Evidence-based practice for inherited metabolic disease.
J Inherit Metab Dis
; 46(4): 537-538, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37157107
19.
Niemann-Pick disease, type C and Roscoe Brady.
Mol Genet Metab
; 120(1-2): 34-37, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27923544
20.
Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues.
Mol Genet Metab
; 120(1-2): 1-7, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27866832