Detalhe da pesquisa
1.
Evidence of a genetic background predisposing to complex regional pain syndrome type 1.
J Med Genet
; 61(2): 163-170, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37816627
2.
Midfacial Toddler Excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism.
Br J Dermatol
; 2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38591490
3.
A third HSAN5 mutation disrupts the nerve growth factor furin cleavage site.
Mol Pain
; 14: 1744806918809223, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30296891
4.
A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).
Hum Mutat
; 38(1): 55-63, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27676246
5.
A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development.
Brain
; 138(Pt 8): 2147-60, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26068709
6.
Phenotypic manifestation of α-synuclein strains derived from Parkinson's disease and multiple system atrophy in human dopaminergic neurons.
Nat Commun
; 12(1): 3817, 2021 06 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34155194
7.
Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development.
Sci Rep
; 8(1): 2340, 2018 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29402896
8.
Transcriptional regulator PRDM12 is essential for human pain perception.
Nat Genet
; 47(7): 803-8, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26005867
9.
Before progressing from "exomes" to "genomes" don't forget splicing variants.
Eur J Hum Genet
; 26(11): 1559-1562, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30002500
10.
Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.
Nat Genet
; 47(8): 962, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26220135