Detalles de la búsqueda
1.
Long-term Efficacy and Safety of Elamipretide in Patients with Barth Syndrome: 168-Week Open-label Extension Results of TAZPOWER.
Genet Med
; : 101138, 2024 Apr 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-38602181
2.
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Am J Hum Genet
; 107(1): 164-172, 2020 07 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-32553196
3.
FGF21 and GDF15 are elevated in Barth Syndrome and are correlated to important clinical measures.
Mol Genet Metab
; 140(3): 107676, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37549445
4.
Myopathy and Ophthalmologic Abnormalities in Association With Multiple Skeletal Muscle Mitochondrial DNA Deletions.
J Neuroophthalmol
; 2023 Sep 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-37665646
5.
Diverse mitochondrial abnormalities in a new cellular model of TAFFAZZIN deficiency are remediated by cardiolipin-interacting small molecules.
J Biol Chem
; 297(3): 101005, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34314685
6.
Accurate assignment of disease liability to genetic variants using only population data.
Genet Med
; 24(1): 87-99, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906463
7.
Clinical presentation and natural history of Barth Syndrome: An overview.
J Inherit Metab Dis
; 45(1): 7-16, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34355402
8.
Current and future treatment approaches for Barth syndrome.
J Inherit Metab Dis
; 45(1): 17-28, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34713454
9.
An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio.
J Inherit Metab Dis
; 45(1): 29-37, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34382226
10.
Hypoxia tolerance in the Norrin-deficient retina and the chronically hypoxic brain studied at single-cell resolution.
Proc Natl Acad Sci U S A
; 116(18): 9103-9114, 2019 04 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-30988181
11.
A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardiolipin metabolism.
Genet Med
; 23(3): 471-478, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33077895
12.
Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening.
Mol Genet Metab
; 134(1-2): 37-42, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34176718
13.
Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet.
Am J Med Genet A
; 185(11): 3350-3358, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34165242
14.
Unlocking the Secrets of Mitochondria in the Cardiovascular System: Path to a Cure in Heart FailureA Report from the 2018 National Heart, Lung, and Blood Institute Workshop
Circulation
; 140(14): 1205-1216, 2019 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31769940
15.
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(5): 878-888, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31949314
16.
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(4): 822, 2020 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-32047287
17.
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).
Am J Med Genet A
; 182(1): 38-52, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31782611
18.
A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome.
Proc Natl Acad Sci U S A
; 114(1): 125-130, 2017 01 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-27999180
19.
Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities.
Am J Med Genet A
; 179(5): 870-874, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30941876
20.
Expansion of the clinical spectrum associated with AARS2-related disorders.
Am J Med Genet A
; 179(8): 1556-1564, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31099476