Detalhe da pesquisa
1.
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Acta Neuropathol
; 146(2): 353-368, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37119330
2.
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
Hum Mutat
; 43(12): 2130-2140, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36251260
3.
Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1.
Genet Med
; 22(5): 889-897, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32015538
4.
Longitudinal multimodal MRI as prognostic and diagnostic biomarker in presymptomatic familial frontotemporal dementia.
Brain
; 142(1): 193-208, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30508042
5.
Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation.
J Med Genet
; 56(4): 209-219, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30530636
6.
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.
Am J Med Genet A
; 179(6): 1091-1097, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30908877
7.
PTRHD1 Loss-of-function mutation in an african family with juvenile-onset Parkinsonism and intellectual disability.
Mov Disord
; 33(11): 1814-1819, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30398675
8.
Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells.
Genes Chromosomes Cancer
; 55(4): 350-4, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26799435
9.
Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.
Hum Mutat
; 37(5): 488-94, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26857394
10.
Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in TARDBP.
J Neurol Neurosurg Psychiatry
; 92(7): 787-789, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33452055
11.
Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.
BMC Med Genet
; 16: 61, 2015 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-26285866
12.
The Benson Complex Figure Test detects deficits in visuoconstruction and visual memory in symptomatic familial frontotemporal dementia: A GENFI study.
J Neurol Sci
; 446: 120590, 2023 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36812822
13.
Review and update of SPRED1 mutations causing Legius syndrome.
Hum Mutat
; 33(11): 1538-46, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22753041
14.
Legius syndrome in fourteen families.
Hum Mutat
; 32(1): E1985-98, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21089071
15.
Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.
Neurogenetics
; 12(4): 263-71, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21993715
16.
A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease.
Parkinsonism Relat Disord
; 89: 63-72, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34229155
17.
Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients.
Neurobiol Aging
; 97: 148.e9-148.e16, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32843152
18.
PRRT2-related phenotypes in patients with a 16p11.2 deletion.
Eur J Med Genet
; 62(4): 265-269, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30125676
19.
Gray and white matter changes in presymptomatic genetic frontotemporal dementia: a longitudinal MRI study.
Neurobiol Aging
; 76: 115-124, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30711674
20.
Haplotypes of IL1B, IL1RN, IL1R1, and IL1R2 and the risk of venous thrombosis.
Arterioscler Thromb Vasc Biol
; 27(6): 1486-91, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17413037