Detalhe da pesquisa
1.
Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.
Hum Mutat
; 35(11): 1311-20, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25137640
2.
Mild Neurological Manifestations Associated With Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Hospitalized Children During the Omicron Wave in Singapore: A Retrospective Cohort Review.
Pediatr Neurol
; 150: 57-62, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979305
3.
Trigonelline is an NAD+ precursor that improves muscle function during ageing and is reduced in human sarcopenia.
Nat Metab
; 6(3): 433-447, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38504132
4.
Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV.
Hum Mol Genet
; 20(22): 4430-9, 2011 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21856731
5.
Spinal muscular atrophy: from gene discovery to clinical trials.
Ann Hum Genet
; 77(5): 435-63, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23879295
6.
CISH and susceptibility to infectious diseases.
N Engl J Med
; 362(22): 2092-101, 2010 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-20484391
7.
Evidence for inefficient contraction and abnormal mitochondrial activity in sarcopenia using magnetic resonance spectroscopy.
J Cachexia Sarcopenia Muscle
; 14(3): 1482-1494, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37143433
8.
Identification of the first COG-CDG patient of Indian origin.
Mol Genet Metab
; 102(3): 364-7, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21185756
9.
Detection of hemi/homozygotes through heteroduplex formation in high-resolution melting analysis.
Anal Biochem
; 410(1): 158-60, 2011 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21111703
10.
Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR.
J Mol Diagn
; 23(8): 941-951, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34111553
11.
Mitochondrial oxidative capacity and NAD+ biosynthesis are reduced in human sarcopenia across ethnicities.
Nat Commun
; 10(1): 5808, 2019 12 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31862890
12.
Myotoxicity of lipid-lowering agents in a teenager with MELAS mutation.
Pediatr Neurol
; 39(6): 426-8, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19027590
13.
Elevated thyroid peroxidase antibodies with encephalopathy in MELAS syndrome.
Pediatr Neurol
; 36(6): 414-7, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17560506
14.
Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation.
J Neurol Sci
; 228(1): 93-7, 2005 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15607216
15.
Clinical and genetic features in two families with MELAS and the T3271C mutation in mitochondrial DNA.
J Child Neurol
; 20(2): 142-6, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15794182
16.
Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.
J Child Neurol
; 20(8): 670-4, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16225813
17.
Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality.
Arch Neurol
; 61(6): 950-2, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15210538
18.
Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency.
Arch Neurol
; 61(12): 1935-7, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15596615
19.
Fatal infantile neuromuscular presentation of glycogen storage disease type IV.
Neuromuscul Disord
; 14(4): 253-60, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15019703
20.
Changes in PDE4D isoforms in the hippocampus of a patient with advanced Alzheimer disease.
Arch Neurol
; 64(3): 456-7, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17353396