Detalhe da pesquisa
1.
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Brain
; 140(6): 1561-1578, 2017 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28459997
2.
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.
Hum Mutat
; 37(7): 703-9, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27071356
3.
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
Orphanet J Rare Dis
; 8: 41, 2013 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23497566