Detalhe da pesquisa
1.
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Am J Hum Genet
; 111(3): 594-613, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38423010
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
em Inglês
| MEDLINE | ID: mdl-36055214
3.
Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species.
Hum Mol Genet
; 31(4): 561-575, 2022 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34508588
4.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596411
5.
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.
Am J Hum Genet
; 107(6): 1062-1077, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33217309
6.
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.
Cerebellum
; 22(6): 1313-1319, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36447112
7.
TERT Extra-Telomeric Roles: Antioxidant Activity and Mitochondrial Protection.
Int J Mol Sci
; 24(5)2023 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36901881
8.
A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.
Clin Genet
; 102(1): 56-60, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35246835
9.
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.
Clin Genet
; 102(1): 12-21, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396703
10.
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
Hum Mutat
; 42(6): 699-710, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33715266
11.
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects.
Hum Mutat
; 42(5): 506-519, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33565183
12.
Expanded phenotype of AARS1-related white matter disease.
Genet Med
; 23(12): 2352-2359, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34446925
13.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
J Inherit Metab Dis
; 44(2): 401-414, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32677093
14.
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly.
Neurobiol Dis
; 141: 104880, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32344152
15.
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.
Hum Mol Genet
; 27(15): 2739-2754, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29767723
16.
Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
Am J Med Genet A
; 182(1): 64-70, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31729175
17.
Correction to: Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study.
Neuroradiology
; 62(12): 1725, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33000314
18.
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.
Hum Mutat
; 40(5): 601-618, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30801875
19.
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.
Hum Mutat
; 40(10): 1731-1748, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31045291
20.
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.
J Inherit Metab Dis
; 42(2): 264-275, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30689204