Detalhe da pesquisa
1.
Strategic validation of variants of uncertain significance in ECHS1 genetic testing.
J Med Genet
; 60(10): 1006-1015, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37055166
2.
Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
J Clin Immunol
; 43(8): 2115-2125, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37770806
3.
Novel ITPA variants identified by whole genome sequencing and RNA sequencing.
J Hum Genet
; 68(9): 649-652, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37246162
4.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 111(5): 996, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38701747
5.
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial disease.
J Inherit Metab Dis
; 45(6): 1143-1150, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36053827
6.
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Brain
; 144(5): 1451-1466, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33855352
7.
Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2.
Hum Mutat
; 42(11): 1422-1428, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405929
8.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 103(2): 221-231, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30057030
9.
Bile Acid Synthesis Disorders in Japan: Long-Term Outcome and Chenodeoxycholic Acid Treatment.
Dig Dis Sci
; 66(11): 3885-3892, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33385262
10.
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.
Am J Hum Genet
; 101(4): 525-538, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942965
11.
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.
Clin Genet
; 98(2): 155-165, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32385911
12.
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
J Inherit Metab Dis
; 43(4): 819-826, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31967322
13.
Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease.
Nucleic Acids Res
; 46(4): 1565-1583, 2018 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-29390138
14.
Nationwide epidemiological survey of holoprosencephaly in Japan.
Pediatr Int
; 62(5): 593-599, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31886593
15.
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.
Neurogenetics
; 20(1): 9-25, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30607703
16.
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
Am J Hum Genet
; 99(2): 414-22, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27426735
17.
Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases.
J Hum Genet
; 64(2): 113-125, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30459337
18.
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
Brain
; 141(6): 1622-1636, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29718187
19.
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
PLoS Genet
; 12(1): e1005679, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26741492
20.
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
Am J Hum Genet
; 97(5): 761-8, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26522469