Detalhe da pesquisa
1.
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.
Hum Mol Genet
; 32(1): 46-54, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35913761
2.
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
N Engl J Med
; 384(25): 2406-2417, 2021 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34161705
3.
Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH: A Longitudinal Multicentre Study.
Ann Neurol
; 91(1): 33-47, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34743360
4.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Am J Hum Genet
; 104(4): 767-773, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929741
5.
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Ann Neurol
; 88(2): 251-263, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32337771
6.
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.
J Med Genet
; 55(1): 39-47, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28916646
7.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Am J Hum Genet
; 104(6): 1251, 2019 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31173719
8.
A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype.
J Neurol
; 268(10): 3845-3851, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811518
9.
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.
Front Neurol
; 12: 677551, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34248822
10.
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
Neurology
; 96(9): e1369-e1382, 2021 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495376
11.
CRISPR/Cas9-mediated Knockout of the Neuropsychiatric Risk Gene KCTD13 Causes Developmental Deficits in Human Cortical Neurons Derived from Induced Pluripotent Stem Cells.
Mol Neurobiol
; 57(2): 616-634, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31402430
12.
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
Nat Commun
; 10(1): 4790, 2019 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31636353
13.
STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.
Orphanet J Rare Dis
; 12(1): 31, 2017 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-28193273
14.
Prominent Oncogenic Roles of EVI1 in Breast Carcinoma.
Cancer Res
; 77(8): 2148-2160, 2017 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28209621