Detalhe da pesquisa
1.
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Am J Hum Genet
; 110(5): 774-789, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37054711
2.
The expanding clinical and genetic spectrum of DYNC1H1-related disorders.
Brain
; 2024 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38848546
3.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
J Med Genet
; 61(2): 132-141, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37580113
4.
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Hum Genet
; 143(5): 649-666, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538918
5.
Optic Neuropathy and Myelopathy in a Teenager With Biotinidase Deficiency.
J Neuroophthalmol
; 2024 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38324479
6.
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Am J Hum Genet
; 107(3): 544-554, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32730804
7.
Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar.
J Clin Immunol
; 42(5): 986-999, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35344128
8.
Magnetic Resonance Imaging Correlates of Multiple Sclerosis Immunopathological Patterns.
Ann Neurol
; 90(3): 440-454, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34231919
9.
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Genet Med
; 23(2): 384-395, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33173220
10.
Safety and efficacy of (+)-epicatechin in subjects with Friedreich's ataxia: A phase II, open-label, prospective study.
J Inherit Metab Dis
; 44(2): 502-514, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32677106
11.
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
Genet Med
; 22(8): 1413-1417, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32366965
12.
Quality of life and caregiver burden in familial frontotemporal lobar degeneration: Analyses of symptomatic and asymptomatic individuals within the LEFFTDS cohort.
Alzheimers Dement
; 16(8): 1115-1124, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32656921
13.
Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.
Alzheimers Dement
; 16(1): 118-130, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31914217
14.
Utility of the global CDR® plus NACC FTLD rating and development of scoring rules: Data from the ARTFL/LEFFTDS Consortium.
Alzheimers Dement
; 16(1): 106-117, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31914218
15.
Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint.
Alzheimers Dement
; 16(1): 11-21, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31914230
16.
Individualized atrophy scores predict dementia onset in familial frontotemporal lobar degeneration.
Alzheimers Dement
; 16(1): 37-48, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31272932
17.
The longitudinal evaluation of familial frontotemporal dementia subjects protocol: Framework and methodology.
Alzheimers Dement
; 16(1): 22-36, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31636026
18.
Mutation update for the SATB2 gene.
Hum Mutat
; 40(8): 1013-1029, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31021519
19.
CKD Due to a Novel Mitochondrial DNA Mutation: A Case Report.
Am J Kidney Dis
; 73(2): 273-277, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30309714
20.
A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.
J Biol Chem
; 292(9): 3866-3876, 2017 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28057753