Detalhe da pesquisa
1.
Coenzyme A precursors flow from mother to zygote and from microbiome to host.
Mol Cell
; 82(14): 2650-2665.e12, 2022 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35662397
2.
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Am J Hum Genet
; 109(12): 2230-2252, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36351433
3.
Femur Fractures in 5 Individuals With Pantothenate Kinase-associated Neurodegeneration: The Role of Dystonia and Suggested Management.
J Pediatr Orthop
; 44(1): e61-e68, 2024 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37867374
4.
PKAN pathogenesis and treatment.
Mol Genet Metab
; 137(3): 283-291, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36240582
5.
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Ann Neurol
; 89(6): 1240-1247, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33704825
6.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
; 143(11): 3242-3261, 2020 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33150406
7.
Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration.
Dev Med Child Neurol
; 63(12): 1402-1409, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34347296
8.
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
Am J Hum Genet
; 99(6): 1229-1244, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27817865
9.
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
Am J Hum Genet
; 99(3): 735-743, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545679
10.
Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms.
Annu Rev Genomics Hum Genet
; 16: 257-79, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25973518
11.
De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.
Hum Genet
; 137(3): 257-264, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29556724
12.
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.
Mol Genet Metab
; 124(2): 161-167, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29685658
13.
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.
Am J Hum Genet
; 94(1): 11-22, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24360804
14.
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
Am J Hum Genet
; 95(6): 729-35, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25434005
15.
Changes in Red Blood Cell membrane lipid composition: A new perspective into the pathogenesis of PKAN.
Mol Genet Metab
; 121(2): 180-189, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28456385
16.
Extracellular 4'-phosphopantetheine is a source for intracellular coenzyme A synthesis.
Nat Chem Biol
; 11(10): 784-92, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26322826
17.
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
Am J Hum Genet
; 91(6): 1144-9, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23176820
18.
Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.
Mol Genet Metab
; 116(4): 289-97, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26547561
19.
Thoracic aortic aneurysm frequency and dissection are associated with fibrillin-1 fragment concentrations in circulation.
Circ Res
; 113(10): 1159-68, 2013 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-24036495
20.
Microenvironmental regulation by fibrillin-1.
PLoS Genet
; 8(1): e1002425, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22242013