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List of works by Paula Coutinho

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

scientific article

A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine

scientific article (publication date: 2004)

A rehabilitation tool designed for intensive web-based cognitive training: description and usability study.

scientific article published on 13 December 2013

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

scientific article published on 06 June 2013

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

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

scientific article

Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease

article

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

scientific article published on 20 August 2009

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia

scientific article

Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal

scientific article published on 29 July 2009

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

scientific article published on April 2013

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

scientific article published on 12 May 2009

Causes of death in Machado-Joseph disease: a case-control study in the Azores (Portugal).

scientific article published in October 1998

Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia

scientific article

Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family.

scientific article published in February 2013

Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease

scientific article published in June 2008

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

scientific article published on August 1999

Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2)

scientific article published on 01 March 2010

Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype

scientific article

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

scientific article

Gelsolin-related familial amyloidosis, Finnish type, in a Portuguese family: clinical and neurophysiological studies

article

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

article

Haplotype diversity and somatic instability in normal and expanded SCA8 alleles

scientific article published on 01 November 2005

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

scientific article

Hereditary ataxias and spastic paraplegias: methodological aspects of a prevalence study in Portugal.

scientific article published in December 1997

High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles

scientific article

Implementation and Outcomes of a Collaborative Multi-Center Network Aimed at Web-Based Cognitive Training - COGWEB Network.

scientific article

International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome

scientific article published in February 1997

Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins

article

Machado-Joseph Disease Is Genetically Different from Holguin Dominant Ataxia (SCA2)

scientific article published on 01 September 1993

Mitochondrial DNA analysis in ocular myopathy. Observations in 29 Portuguese patients.

scientific article published in January 1998

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

Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.

scientific article

Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.

scientific article

Pathological crying in patients with Machado-Joseph disease

scientific article published in 2008

Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.

scientific article published in October 1996

Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family

scientific article (publication date: April 2003)

Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal

scientific article

Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin.

scientific article

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

scientific article

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

scientific article

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

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

scientific article (publication date: October 2001)

The potential of motion quantification systems in the automatic evaluation of motor function after stroke.

scientific article published in August 2013

The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal.

scientific article

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