Detalhe da pesquisa
1.
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
em Inglês
| MEDLINE | ID: mdl-36055214
2.
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Brain
; 147(6): 1967-1974, 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38478578
3.
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
J Med Genet
; 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38458752
4.
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.
Mol Genet Metab
; 142(3): 108511, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38878498
5.
Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop.
Mol Genet Metab
; 141(3): 108144, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38277989
6.
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.
Mol Genet Metab
; 142(2): 108486, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38733639
7.
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
Ann Neurol
; 94(2): 332-349, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37062836
8.
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value-based healthcare approach and systematic benefit-risk assessment.
J Inherit Metab Dis
; 47(2): 244-254, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38185897
9.
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Brain
; 146(11): 4547-4561, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37459438
10.
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
em Inglês
| MEDLINE | ID: mdl-32004446
11.
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Am J Hum Genet
; 106(1): 92-101, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31866046
12.
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
em Inglês
| MEDLINE | ID: mdl-31883641
13.
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
em Inglês
| MEDLINE | ID: mdl-32707086
14.
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Ann Neurol
; 91(2): 225-237, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34954817
15.
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.
J Inherit Metab Dis
; 46(6): 1170-1185, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37540500
16.
MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases.
J Inherit Metab Dis
; 46(2): 313-325, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651519
17.
Nicotinamide Riboside for Ataxia Telangiectasia: A Report of an Early Treated Individual.
Neuropediatrics
; 54(1): 78-81, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36223879
18.
Effects of Sodium Lactate Infusion in Two Girls with Glucose Transporter 1 Deficiency Syndrome.
Neuropediatrics
; 54(6): 365-370, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37478891
19.
Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine.
Neuropediatrics
; 54(5): 351-355, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36603837
20.
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat
; 43(3): 403-419, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34989426