José Leal Loureiro

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 · 331 citations

Biology, Neuroanatomy, Genetics +8

Correlation between CAG repeat length and clinical features in Machado-Joseph disease.

Patrı́cia Maciel, Cláudia Gaspar, Anita L. DeStefano et al. · PubMed · 1995 · 320 citations

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 · 246 citations

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

Amir Boukhris, Rebecca Schüle, José Leal Loureiro et al. · The American Journal of Human Genetics · 2013 · 178 citations · Full text

Medicine, Physiology, Ganglioside Biosynthesis Responsible +7

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

Elodie Martin, Rebecca Schüle, Katrien Smets et al. · The American Journal of Human Genetics · 2013 · 165 citations · Full text

Motor Neuron Defects, Neurological Disorder, Degenerative Disease +8