Detalhe da pesquisa
1.
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.
Brain
; 142(4): e12, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30847471
2.
A novel homozygous variant in the SPG7 gene presenting with childhood optic nerve atrophy.
Am J Ophthalmol Case Rep
; 26: 101400, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35243150
3.
Successful treatment with repeated dexamethasone implant injections for recurrent macular edema after acute retinal necrosis.
J Ophthalmic Inflamm Infect
; 12(1): 33, 2022 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36269441
4.
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5.
Front Cell Dev Biol
; 10: 783762, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35295849
5.
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.
Brain
; 132(Pt 6): 1577-88, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19339254
6.
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Brain
; 131(Pt 3): 772-84, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18079167
7.
Hereditary spastic paraplegia 3A associated with axonal neuropathy.
Arch Neurol
; 64(5): 706-13, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17502470
8.
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
Orphanet J Rare Dis
; 9: 146, 2014 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-25258038
9.
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).
Eur J Hum Genet
; 18(9): 1065-7, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20461110