Concepedia

Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS

Flávio Moura Rezende Filho, Michael Parkinson, José Luiz Pedroso, Roy Poh, Ingrid Faber, Charles Marques Lourenço, Wilson Marques, Marcondes C. França, Fernando Kok, Juliana Maria Ferraz Sallum,

Parkinsonism & Related Disorders · 2018 · 32 citations · 24 references

DOIFull text

Open access

Concepts

References

24

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

James C. Engert, Pierre Bérubé, Jocelyne Mercier et al. · Nature Genetics · 2000 · 436 citations

, , +12

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

J.P. Bouchard, A. Barbeau, Rémi W. Bouchard et al. · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · 1978 · 288 citations · Full text

, , +16

Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy.

Eeva Nikoskelainen, R. J. Marttila, Kirsi Huoponen et al. · Journal of Neurology Neurosurgery & Psychiatry · 1995 · 270 citations · Full text

, , +17

Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy

Piero Barboni, Giacomo Savini, Maria Lucia Valentino et al. · Ophthalmology · 2004 · 249 citations

, , +16

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

Martine Girard, Roxanne Larivière, David A. Parfitt et al. · Proceedings of the National Academy of Sciences · 2012 · 192 citations

, , +17