Detalhe da pesquisa
1.
Integrative miRNA-mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy.
Brain
; 146(7): 3049-3062, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36730021
2.
Outcome of small fibre pathology in fibromyalgia: a real life longitudinal observational study.
Clin Exp Rheumatol
; 41(6): 1216-1224, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35916296
3.
A multicomponent physical activity home-based intervention for fibromyalgia patients: effects on clinical and skin biopsy features.
Clin Exp Rheumatol
; 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38019150
4.
Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.
Int J Mol Sci
; 24(9)2023 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37175987
5.
DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening.
Eur J Neurol
; 29(7): 2056-2065, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35286755
6.
DNA Damage Response/TP53 Pathway Is Activated and Contributes to the Pathogenesis of Dilated Cardiomyopathy Associated With LMNA (Lamin A/C) Mutations.
Circ Res
; 124(6): 856-873, 2019 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30696354
7.
Suppression of Activated FOXO Transcription Factors in the Heart Prolongs Survival in a Mouse Model of Laminopathies.
Circ Res
; 122(5): 678-692, 2018 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29317431
8.
Diagnostic criteria for small fibre neuropathy in clinical practice and research.
Brain
; 142(12): 3728-3736, 2019 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31665231
9.
Editorial of Special Issue "Genetics and Molecular Pathogenesis of Non-Ischemic Cardiomyopathies".
Int J Mol Sci
; 21(24)2020 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33321793
10.
Established and Emerging Mechanisms in the Pathogenesis of Arrhythmogenic Cardiomyopathy: A Multifaceted Disease.
Int J Mol Sci
; 21(17)2020 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-32878278
11.
Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1.
J Neurol Neurosurg Psychiatry
; 90(8): 895-906, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30995999
12.
Distinct Cellular Basis for Early Cardiac Arrhythmias, the Cardinal Manifestation of Arrhythmogenic Cardiomyopathy, and the Skin Phenotype of Cardiocutaneous Syndromes.
Circ Res
; 121(12): 1346-1359, 2017 Dec 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29018034
13.
Laser capture microdissection for transcriptomic profiles in human skin biopsies.
BMC Mol Biol
; 19(1): 7, 2018 06 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-29921228
14.
ALS mouse model SOD1G93A displays early pathology of sensory small fibers associated to accumulation of a neurotoxic splice variant of peripherin.
Hum Mol Genet
; 25(8): 1588-99, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26908600
15.
Knockdown of Plakophilin 2 Downregulates miR-184 Through CpG Hypermethylation and Suppression of the E2F1 Pathway and Leads to Enhanced Adipogenesis In Vitro.
Circ Res
; 119(6): 731-50, 2016 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27470638
16.
Cardiac Fibro-Adipocyte Progenitors Express Desmosome Proteins and Preferentially Differentiate to Adipocytes Upon Deletion of the Desmoplakin Gene.
Circ Res
; 119(1): 41-54, 2016 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27121621
17.
COL6A5 variants in familial neuropathic chronic itch.
Brain
; 140(3): 555-567, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28073787
18.
The hippo pathway is activated and is a causal mechanism for adipogenesis in arrhythmogenic cardiomyopathy.
Circ Res
; 114(3): 454-68, 2014 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-24276085
19.
Epidermal innervation morphometry by immunofluorescence and bright-field microscopy.
J Peripher Nerv Syst
; 20(4): 387-91, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26309146
20.
Gain-of-function Nav1.8 mutations in painful neuropathy.
Proc Natl Acad Sci U S A
; 109(47): 19444-9, 2012 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23115331