Detalhe da pesquisa
1.
Glial lipid droplets and ROS induced by mitochondrial defects promote neurodegeneration.
Cell
; 160(1-2): 177-90, 2015 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25594180
2.
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.
Am J Hum Genet
; 108(1): 134-147, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340455
3.
Survey of genetic counselors identifies a knowledge gap discerning properly regulated cell and gene therapy trials.
Cytotherapy
; 26(1): 88-95, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37747395
4.
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Genet Med
; 25(11): 100950, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551667
5.
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
Mol Genet Metab
; 140(3): 107668, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37549443
6.
Succinyl-CoA Synthetase Dysfunction as a Mechanism of Mitochondrial Encephalomyopathy: More than Just an Oxidative Energy Deficit.
Int J Mol Sci
; 24(13)2023 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37445899
7.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Am J Hum Genet
; 105(3): 493-508, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31447100
8.
Girl-Boy Twins with Developmental Delay from 16p11.2 Triplication due to Biparental Inheritance from Two Parents with 16p11.2 Duplication.
Cytogenet Genome Res
; 162(1-2): 40-45, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35139523
9.
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Ann Neurol
; 89(4): 828-833, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443317
10.
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.
Am J Hum Genet
; 103(6): 1030-1037, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30503518
11.
Correction: Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress.
PLoS Biol
; 16(3): e1002622, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29509758
12.
Insulinemic Potential of Lifestyle Is Inversely Associated with Leukocyte Mitochondrial DNA Copy Number in US White Adults.
J Nutr
; 150(8): 2156-2163, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32492151
13.
An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology.
Am J Med Genet A
; 182(7): 1562-1571, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32426895
14.
Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse.
PLoS Genet
; 13(6): e1006825, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28640802
15.
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Am J Hum Genet
; 99(4): 831-845, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27640307
16.
Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.
Am J Med Genet A
; 179(10): 2138-2143, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31290619
17.
An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.
Am J Med Genet A
; 179(12): 2357-2364, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31512387
18.
Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(2): 100337, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36534118
19.
Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress.
PLoS Biol
; 13(7): e1002197, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26176594
20.
Pancytopenia, Hepatomegaly, and Neurologic Abnormalities in Two Pediatric Patients.
Pediatr Rev
; 44(S1): S29-S34, 2023 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37777240