List of works - José L. Loureiro

A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21.

scientific article

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

scientific article published on 06 June 2013

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

scientific article

Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations

article

Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.

scientific article published in March 1998

Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey

scientific article published on April 2013

Chapter 16 Overview on Hereditary Spastic Paraplegias

scientific article published in 2007

Chapter 19 Recessive Spastic Paraplegias

scientific article published in 2007

Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.

scientific article published on August 1999

Genetic Linkage Studies of Machado-Joseph Disease with Chromosome 14q STRPs in 16 Portuguese-Azorean Kindreds

article

Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study

scientific article

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

scientific article

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

scientific article

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

scientific article published on 13 December 2007

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

scientific article published on 18 February 2007

Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.

scientific article

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease

scientific article published on 17 June 2013

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

scientific article published on 13 May 2006

List of works by José L. Loureiro

A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21.

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations

Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.

Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey

Chapter 16 Overview on Hereditary Spastic Paraplegias

Chapter 19 Recessive Spastic Paraplegias

Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.

Genetic Linkage Studies of Machado-Joseph Disease with Chromosome 14q STRPs in 16 Portuguese-Azorean Kindreds

Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

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

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

Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity