Detalhe da pesquisa
1.
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.
J Med Genet
; 60(1): 65-73, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34872991
2.
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
Brain
; 145(5): 1624-1631, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148383
3.
Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.
J Pediatr
; 228: 240-251.e2, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32827528
4.
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
Am J Hum Genet
; 101(6): 965-976, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29220678
5.
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.
J Inherit Metab Dis
; 43(4): 726-736, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32391929
6.
Overweight and obesity impair left ventricular systolic function as measured by left ventricular ejection fraction and global longitudinal strain.
Cardiovasc Diabetol
; 17(1): 113, 2018 08 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30107798
7.
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications.
Epilepsia
; 59(8): 1595-1602, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29920680
8.
POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome.
Cerebellum
; 15(5): 632-5, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27071669
9.
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
J Med Genet
; 52(11): 779-83, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26084283
10.
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.
BMC Genomics
; 15: 1090, 2014 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-25495354
11.
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.
Am J Hum Genet
; 89(4): 507-15, 2011 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21963049
12.
Novel findings in a Swedish primary familial brain calcification cohort.
J Neurol Sci
; 460: 123020, 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38642488
13.
Functional Limitations and Exercise Intolerance in Patients With Post-COVID Condition: A Randomized Crossover Clinical Trial.
JAMA Netw Open
; 7(4): e244386, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38573638
14.
Status epilepticus in POLG disease: a large multinational study.
J Neurol
; 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38822839
15.
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.
Biochim Biophys Acta
; 1822(7): 1096-108, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22525402
16.
Systemic Capillary Leak Syndrome With Cerebral Involvement in a C9orf72 Expansion Carrier: Case Report and Review of the Literature.
Neurol Genet
; 9(4): e200081, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37334257
17.
Elevated plasma phospholipid n-3 docosapentaenoic acid concentrations during hibernation.
PLoS One
; 18(6): e0285782, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37294822
18.
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3.
Neurol Genet
; 9(6): e200100, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38035175
19.
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Front Neurol
; 14: 1170005, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37273706
20.
Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutations.
JCI Insight
; 8(17)2023 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37681412