Detalhe da pesquisa
1.
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Hum Mol Genet
; 32(6): 917-933, 2023 03 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36190515
2.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Am J Hum Genet
; 109(9): 1692-1712, 2022 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36055214
3.
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
J Med Genet
; 2024 Apr 08.
Artigo
Inglês
| MEDLINE | ID: mdl-38458752
4.
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.
Am J Hum Genet
; 106(1): 102-111, 2020 01 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31883641
5.
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Am J Hum Genet
; 107(2): 364-373, 2020 08 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32707086
6.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100314, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36305855
7.
Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease.
Mol Genet Metab
; 140(3): 107675, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37572574
8.
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Ann Neurol
; 91(2): 225-237, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34954817
9.
Ageing is associated with a reduction in markers of mitochondrial energy metabolism in the human epidermis.
Exp Dermatol
; 32(6): 900-905, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36851889
10.
From old to new - Repurposing drugs to target mitochondrial energy metabolism in cancer.
Semin Cell Dev Biol
; 98: 211-223, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31145995
11.
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
Ann Neurol
; 90(1): 143-158, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33999436
12.
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
J Inherit Metab Dis
; 45(4): 663-681, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35506430
13.
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Am J Hum Genet
; 102(3): 460-467, 2018 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29429571
14.
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
Am J Hum Genet
; 103(5): 817-825, 2018 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30401461
15.
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
Am J Hum Genet
; 103(4): 592-601, 2018 10 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30245030
16.
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Am J Hum Genet
; 102(3): 494-504, 2018 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29478781
17.
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Genet Med
; 23(9): 1705-1714, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34140661
18.
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
Am J Med Genet A
; 185(8): 2384-2390, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34003604
19.
Congenital disorders of glycosylation with defective fucosylation.
J Inherit Metab Dis
; 44(6): 1441-1452, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34389986
20.
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Am J Hum Genet
; 101(2): 283-290, 2017 Aug 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28757203