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.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Genet Med
; 26(2): 101013, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37924258
5.
Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR.
J Inherit Metab Dis
; 47(2): 270-279, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38084664
6.
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
7.
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
Am J Hum Genet
; 106(2): 256-263, 2020 02 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32004446
8.
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
9.
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
10.
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
11.
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Ann Neurol
; 91(2): 225-237, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34954817
12.
Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine.
Neuropediatrics
; 54(5): 351-355, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-36603837
13.
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
Ann Neurol
; 90(1): 143-158, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33999436
14.
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.
Blood
; 136(9): 1033-1043, 2020 08 27.
Artigo
Inglês
| MEDLINE | ID: mdl-32294159
15.
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.
Mov Disord
; 37(10): 2147-2153, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-36047608
16.
Free threonine in human breast milk is related to infant intestinal microbiota composition.
Amino Acids
; 54(3): 365-383, 2022 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-34477981
17.
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
18.
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
19.
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
20.
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