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Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene

Éléonore Eymard-Pierre, Gaëtan Lesca, Sandra Dollet, Filippo M. Santorelli, M. Di Capua, Enrico Bertini, Odile Boespflug‐Tanguy

The American Journal of Human Genetics · 2002 · 223 citations · 23 references

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23

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

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Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

G.M. Lathrop, J.-M. Lalouel, Cécile Julier et al. · PubMed · 1985 · 1.2K citations

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Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease

Giorgio Casari, Maurizio De Fusco, Sonia Ciarmatori et al. · Cell · 1998 · 829 citations · Full text

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The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

Yi Yang, Afif Hentati, Han‐Xiang Deng et al. · Nature Genetics · 2001 · 732 citations

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A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

Collette K. Hand, Hitoshi Osuga, Yoshiko Yanagisawa et al. · Nature Genetics · 2001 · 676 citations

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