José Leal Loureiro
Unidade Local de Saúde de Entre Douro e Vouga(PT)Institut de Biologie Moléculaire et Cellulaire(FR)i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto(PT)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Neurological diseases and metabolism, Genetic Neurodegenerative Diseases, Neurogenetic and Muscular Disorders Research, Mitochondrial Function and Pathology
Most-Cited Works
- → Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum(2007)331 cited
- Correlation between CAG repeat length and clinical features in Machado-Joseph disease.(1995)
- → Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration(2007)250 cited
- → Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia(2013)180 cited
- → Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia(2013)169 cited
- → A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia(2017)148 cited