Detalhe da pesquisa
1.
CAG repeat mosaicism is gene specific in spinocerebellar ataxias.
Am J Hum Genet
; 111(5): 913-926, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38626762
2.
Endometriosis-associated infertility diagnosis based on saliva microRNA signatures.
Reprod Biomed Online
; 46(1): 138-149, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36411203
3.
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.
Brain
; 144(9): 2798-2811, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34687211
4.
A Bioinformatics Approach to MicroRNA-Sequencing Analysis Based on Human Saliva Samples of Patients with Endometriosis.
Int J Mol Sci
; 23(14)2022 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35887388
5.
Plasma microRNA signature in presymptomatic and symptomatic subjects with C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry
; 92(5): 485-493, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33239440
6.
Plasma NfL levels and longitudinal change rates in C9orf72 and GRN-associated diseases: from tailored references to clinical applications.
J Neurol Neurosurg Psychiatry
; 92(12): 1278-1288, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34349004
7.
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
Brain
; 143(1): 303-319, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31855245
8.
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
Am J Hum Genet
; 92(2): 238-44, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23332916
9.
Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration.
Neurogenetics
; 15(2): 95-100, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24469240
10.
Correction: Dabi et al. Clues for Improving the Pathophysiology Knowledge for Endometriosis Using Plasma Micro-RNA Expression. Diagnostics 2022, 12, 175.
Diagnostics (Basel)
; 14(8)2024 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38667505
11.
Saliva-based microRNA diagnostic signature for the superficial peritoneal endometriosis phenotype.
Eur J Obstet Gynecol Reprod Biol
; 297: 187-196, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38677096
12.
Long-read sequencing unravels the complexity of structural variants in PRKN in two individuals with early-onset Parkinson's disease.
medRxiv
; 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38746197
13.
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
EBioMedicine
; 99: 104931, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38150853
14.
New class of RNA biomarker for endometriosis diagnosis: The potential of salivary piRNA expression.
Eur J Obstet Gynecol Reprod Biol
; 291: 88-95, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37857147
15.
Validation of a Salivary miRNA Signature of Endometriosis - Interim Data.
NEJM Evid
; 2(7): EVIDoa2200282, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38320163
16.
Clues for Improving the Pathophysiology Knowledge for Endometriosis Using Serum Micro-RNA Expression.
Diagnostics (Basel)
; 12(1)2022 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35054341
17.
MicroRNome analysis generates a blood-based signature for endometriosis.
Sci Rep
; 12(1): 4051, 2022 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35260677
18.
Salivary MicroRNA Signature for Diagnosis of Endometriosis.
J Clin Med
; 11(3)2022 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35160066
19.
Endometriosis Associated-miRNome Analysis of Blood Samples: A Prospective Study.
Diagnostics (Basel)
; 12(5)2022 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35626305
20.
The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency.
Neurobiol Aging
; 85: 154.e9-154.e11, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31262553