SPG11 spastic paraplegia

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

Giovanni Stévanin, Filippo M. Santorelli, Hamid Azzedine et al. · Nature Genetics · 2007 · 332 citations

Medicine, Neurology, Neuroscience +8

The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum

Heidi Howard, David B. Mount, Daniel Rochefort et al. · Nature Genetics · 2002 · 278 citations

Medicine, Neurology, Neuroscience +16

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

Giovanni Stévanin, Hamid Azzedine, Paola S. Denora et al. · Brain · 2007 · 253 citations

Life Sciences, Genetics, Neurology +17

Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia

Michael A. Simpson, Christos Proukakis, Anna Pryde et al. · The American Journal of Human Genetics · 2003 · 173 citations · Full text

Medicine, Neurology, Neuroscience +3

Long‐term course and mutational spectrum of <i>spatacsin</i>‐linked spastic paraplegia

Ute Hehr, Peter Bauer, Beate Winner et al. · Annals of Neurology · 2007 · 120 citations

Life Sciences, Molecular Genetics, Neurology +16