Detalhe da pesquisa
1.
A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1.
Hum Mol Genet
; 32(7): 1162-1174, 2023 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36345169
2.
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
Cell Mol Life Sci
; 81(1): 153, 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538865
3.
Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening.
Cell Mol Life Sci
; 80(4): 110, 2023 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37000222
4.
Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program.
Mol Genet Metab
; 140(3): 107707, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37883914
5.
Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.
Am J Med Genet A
; 191(1): 29-36, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36177608
6.
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
Clin Genet
; 99(4): 547-557, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33381861
7.
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation.
J Med Genet
; 56(8): 499-511, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30910913
8.
The NuRD complex and macrocephaly associated neurodevelopmental disorders.
Am J Med Genet C Semin Med Genet
; 181(4): 548-556, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31737996
9.
De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Genet Med
; 21(9): 2059-2069, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30923367
10.
GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.
J Hum Genet
; 62(6): 589-597, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28228639
11.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Acta Neuropathol
; 133(4): 517-533, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28012042
12.
Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.
Hum Mol Genet
; 23(21): 5638-48, 2014 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24908668
13.
Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.
Brain
; 136(Pt 1): 194-208, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23365097
14.
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
PLoS Genet
; 7(10): e1002325, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22022284
15.
Gatad2b, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical patterning.
Transl Psychiatry
; 14(1): 33, 2024 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38238293
16.
Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia.
bioRxiv
; 2024 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38352418
17.
Juvenile-onset motor neuron disease caused by novel mutations in ß-hexosaminidase.
Mol Genet Metab
; 108(1): 65-9, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23158871
18.
De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder.
HGG Adv
; 4(3): 100198, 2023 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37181331
19.
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.
Genet Med
; 14(1): 51-9, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22237431
20.
Unrelated umbilical cord blood transplant for juvenile metachromatic leukodystrophy: a 5-year follow-up in three affected siblings.
Mol Genet Metab
; 102(2): 207-9, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21035368