Detalhe da pesquisa
1.
Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.
PLoS Genet
; 12(12): e1006461, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27923065
2.
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Am J Hum Genet
; 93(4): 727-34, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24035193
3.
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.
Brain
; 137(Pt 3): 683-92, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24459106
4.
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
Am J Hum Genet
; 88(5): 621-7, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21549336
5.
The difficulty to model Huntington's disease in vitro using striatal medium spiny neurons differentiated from human induced pluripotent stem cells.
Sci Rep
; 11(1): 6934, 2021 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33767215
6.
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
J Clin Invest
; 131(12)2021 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33945503
7.
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Nat Commun
; 10(1): 4919, 2019 10 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31664039
8.
A de novo gain-of-function mutation in SCN11A causes loss of pain perception.
Nat Genet
; 45(11): 1399-404, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24036948