Detalhe da pesquisa
1.
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).
Mol Genet Metab
; 136(2): 125-131, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35606253
2.
A Complexity Perspective on Narrative Identity Reconstruction in Mental Health Recovery.
Qual Health Res
; 30(4): 634-649, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31729934
3.
Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial.
Mol Genet Metab
; 126(2): 121-130, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30528227
4.
Improved cardiac outcomes with combined atenolol and diazepam intervention in seizure.
Epilepsia
; 59(4): 854-865, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29512824
5.
Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency.
Mol Genet Metab
; 122(3): 61-66, 2017 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28918066
6.
Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
Mol Genet Metab
; 120(4): 342-349, 2017 04.
Artigo
Inglês
| MEDLINE | ID: mdl-28202214
7.
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.
Mol Genet Metab
; 120(3): 213-222, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-27913098
8.
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.
Mol Genet Metab
; 113(3): 161-70, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-24863970
9.
Diagnosis pathway for patients with amyotrophic lateral sclerosis: retrospective analysis of the US Medicare longitudinal claims database.
BMC Neurol
; 13: 160, 2013 Nov 04.
Artigo
Inglês
| MEDLINE | ID: mdl-24499173
10.
Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.
Am J Hum Genet
; 84(1): 44-51, 2009 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-19118815
11.
Use of MR cell tracking to evaluate targeting of glial precursor cells to inflammatory tissue by exploiting the very late antigen-4 docking receptor.
Radiology
; 265(1): 175-85, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-22923719
12.
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
Mol Genet Metab
; 107(3): 394-402, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23021068
13.
High prevalence of overweight and obesity in females with phenylketonuria.
Mol Genet Metab
; 107(1-2): 43-8, 2012 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-22846370
14.
Treatment of relapsing-remitting multiple sclerosis with high-dose cyclophosphamide induction followed by glatiramer acetate maintenance.
Mult Scler
; 18(2): 202-9, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-21865410
15.
Human glial-restricted progenitors survive, proliferate, and preserve electrophysiological function in rats with focal inflammatory spinal cord demyelination.
Glia
; 59(3): 499-510, 2011 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-21264955
16.
Proteomic assessment of a cell model of spinal muscular atrophy.
BMC Neurosci
; 12: 25, 2011 Mar 08.
Artigo
Inglês
| MEDLINE | ID: mdl-21385431
17.
Treatment of mitochondrial electron transport chain disorders: a review of clinical trials over the past decade.
Mol Genet Metab
; 99(3): 246-55, 2010 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-20060349
18.
Deletion at chromosomal band Xp22.12-Xp22.13 involving PDHA1 in a patient with congenital lactic acidosis.
Mol Genet Metab
; 101(1): 87-9, 2010 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-20591708
19.
Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.
Mol Genet Metab
; 100(3): 296-9, 2010 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-20462777
20.
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium.
Mol Genet Metab
; 100 Suppl 1: S97-105, 2010.
Artigo
Inglês
| MEDLINE | ID: mdl-20188616