Detalhe da pesquisa
1.
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.
Hum Mol Genet
; 31(3): 362-375, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34494102
2.
De novo enhancer deletion of LMX1B produces a mild nail-patella clinical phenotype.
Clin Genet
; 105(2): 214-219, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37899549
3.
Bi-allelic LoF NRROS Variants Impairing Active TGF-ß1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.
Am J Hum Genet
; 106(4): 559-569, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32197075
4.
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.
Int J Mol Sci
; 24(4)2023 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36834994
5.
CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development.
Biochem Soc Trans
; 50(4): 1207-1224, 2022 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35997111
6.
Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency.
J Inherit Metab Dis
; 45(6): 1028-1038, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35866541
7.
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.
Int J Mol Sci
; 23(2)2022 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35055180
8.
Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder.
Neurobiol Dis
; 155: 105370, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33905871
9.
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Brain
; 143(1): 112-130, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31794024
10.
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).
Hum Mutat
; 41(10): 1761-1774, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32652677
11.
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
Brain
; 142(1): 50-58, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30576410
12.
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.
Mol Genet Metab
; 126(1): 77-82, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30558828
13.
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.
Clin Genet
; 95(3): 403-408, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30417326
14.
Reply: Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient.
Brain
; 145(5): e41-e42, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35254397
15.
Loss of mitochondrial DNA-encoded protein ND1 results in disruption of complex I biogenesis during early stages of assembly.
FASEB J
; 30(6): 2236-48, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26929434
16.
Mapping time-course mitochondrial adaptations in the kidney in experimental diabetes.
Clin Sci (Lond)
; 130(9): 711-20, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26831938
17.
Reply: Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement.
Brain
; 143(4): e30, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32125358
18.
Reply: Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
Brain
; 143(10): e84, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33011764
19.
Reply: NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness.
Brain
; 143(7): e55, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32462208
20.
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia.
Neurol Genet
; 9(1): e200051, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36698452