Detalhe da pesquisa
1.
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples.
J Med Genet
; 60(6): 540-546, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36600615
2.
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.
J Med Genet
; 60(7): 685-691, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446584
3.
Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.
J Hum Genet
; 68(8): 527-532, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36959467
4.
Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene.
Clin Genet
; 103(4): 492-494, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36544354
5.
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome.
J Med Genet
; 59(6): 605-612, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33910934
6.
Genetic diagnosis of basal ganglia disease in childhood.
Dev Med Child Neurol
; 64(6): 743-752, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34988976
7.
Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases.
J Genet Couns
; 30(3): 693-700, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33142000
8.
Therapy Prospects for Mitochondrial DNA Maintenance Disorders.
Int J Mol Sci
; 22(12)2021 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34208592
9.
Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts.
FASEB J
; 33(6): 7168-7179, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30848931
10.
Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant.
Muscle Nerve
; 67(6): E22-E24, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36631979
11.
Role of PARP activity in lung cancer-induced cachexia: Effects on muscle oxidative stress, proteolysis, anabolic markers, and phenotype.
J Cell Physiol
; 232(12): 3744-3761, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28177129
12.
The ROS-sensitive microRNA-9/9* controls the expression of mitochondrial tRNA-modifying enzymes and is involved in the molecular mechanism of MELAS syndrome.
Hum Mol Genet
; 24(1): 167-84, 2015 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25149473
13.
Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome.
Biochim Biophys Acta Mol Basis Dis
; 1863(1): 182-187, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27613247
14.
Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function.
Nature
; 478(7367): 114-8, 2011 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-21979051
15.
Therapeutic Approaches in Mitochondrial Dysfunction, Proteolysis, and Structural Alterations of Diaphragm and Gastrocnemius in Rats With Chronic Heart Failure.
J Cell Physiol
; 231(7): 1495-513, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26530247
16.
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.
Brain
; 136(Pt 5): 1508-17, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23543484
17.
Accumulation of mitochondrial DNA deletions within dopaminergic neurons triggers neuroprotective mechanisms.
Brain
; 136(Pt 8): 2369-78, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23884809
18.
Elevated Prostaglandin E2 Synthesis Is Associated with Clinical and Radiological Disease Severity in Cystic Fibrosis.
J Clin Med
; 13(7)2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38610815
19.
Clinical and Genetic Analysis of Patients With TK2 Deficiency.
Neurol Genet
; 10(2): e200138, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38544965
20.
Mitochondrial dysfunction and therapeutic approaches in respiratory and limb muscles of cancer cachectic mice.
Exp Physiol
; 98(9): 1349-65, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23625954