Concepedia

Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis

Marco Luigetti, Amelia Conte, Francesca Madia, Giuseppe Marangi, Marcella Zollino, Irene Mancuso, M. Dileone, Alessandra Del Grande, Vincenzo Di Lazzaro, Pietro Tonali,

Neurological Sciences · 2009 · 26 citations · 10 references

DOI

Concepts

References

10

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

D.R. Rosen, Teepu Siddique, David T. Patterson et al. · Nature · 1993 · 7K citations

, , +14

Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase

Peter M. Andersen, Peter Nilsson, V. Ala‐Hurula et al. · Nature Genetics · 1995 · 319 citations

, , +16

Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor

Ammar Al‐Chalabi · Human Molecular Genetics · 1998 · 157 citations · Full text

, , +17

D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis

Wim Robberecht, Tania Aguirre, Ludo Van Den Bosch et al. · Neurology · 1996 · 129 citations

, , +17

SOD1 mutations in amyotrophic lateral sclerosis

Stefania Battistini, Francesco Giannini, Giuseppe Greco et al. · Journal of Neurology · 2005 · 102 citations

, , +12