J. Loureiro

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

A. Durr, C. Depienne, A. Brice, 2014, American journal of human genetics.

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

J. Guimarães, P. Coutinho, L. Ruano, 2013, JAMA neurology.

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias

A. Brice, G. Stevanin, P. Coutinho, 2017, European Journal of Human Genetics.

Neuro‐COVID frequency and short‐term outcome in the Northern Portuguese population

J. Loureiro, M. Correia, E. Azevedo, 2021, European journal of neurology.

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

A. Durr, J. Melki, S. Hanein, 2009, Neurology.

Chapter 19 Recessive Spastic Paraplegias

P. Coutinho, J. Loureiro, 2007 .

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

M. Ruberg, A. Durr, N. Elleuch, 2007, Nature Genetics.

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

A. Ferbert, A. Durr, S. Forlani, 2013, American journal of human genetics.

Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families

P. Coutinho, J. Loureiro, J. Sequeiros, 2009, Acta neurologica Scandinavica.

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

E. Bertini, M. Tosetti, A. Durr, 2006, Neurogenetics.

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

Alexandra Durr, Chokri Mhiri, Stephan Züchner, 2013, American journal of human genetics.

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.

Patrizia Rizzu, Ángel Carracedo, Peter Heutink, 2017, American journal of human genetics.

Hereditary spastic paraplegia: a clinical and genetic study

J. Loureiro, 2012 .

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

F. Pasquier, A. Durr, D. Hannequin, 2008, Brain : a journal of neurology.

Chapter 16 Overview on Hereditary Spastic Paraplegias

P. Coutinho, J. Loureiro, 2007 .

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

G. Stevanin, M. Barbosa, P. Coutinho, 2013, JAMA neurology.

Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations

H. Brunner, I. Martins, P. Coutinho, 2012, Genetics in Medicine.

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

A. Durr, C. Depienne, A. Brice, 2015, Brain : a journal of neurology.

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

J. Prud'homme, J. Hazan, C. Paternotte, 1999, Archives of neurology.

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations

P. Svenningsson, A. Durr, A. Brice, 2021, Neurogenetics.

MIL-160(Al) MOF’s potential in adsorptive water harvesting

A. Rodrigues, I. Nogueira, A. M. Ribeiro, 2021, Adsorption.

Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution

P. Coutinho, J. Loureiro, J. Sequeiros, 2019, Human mutation.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

Assessment of cognitive functions in patients with multiple sclerosis applying the normative values of the Rao’s brief repeatable battery in the Portuguese population

A. Ferreira, Cláudia Sousa, J. Loureiro, 2021, BMC Neurology.

Determinants of age at onset in a Portuguese cohort of autosomal dominant spastic paraplegia

J. Loureiro, I. Alonso, Eva Brandão, 2019, Journal of the Neurological Sciences.

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

J. Weissenbach, J. Prud'homme, A. Dürr, 2007, Neurology.

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

Í. Lopes-Cendes, L. Farrer, A. DeStefano, 1995, American journal of human genetics.

PLEKHG 5 deficiency leads to an intermediate form of autosomal-recessive Charcot – Marie – Tooth disease

L. Schöls, C. Rivolta, O. Poirot, 2013 .

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.

P. Heutink, G. Rouleau, P. Rizzu, 2017, American journal of human genetics.

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

A. Durr, C. Depienne, A. Brice, 2014, American journal of human genetics.

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

S. Züchner, A. Durr, R. Schüle, 2013, American journal of human genetics.