Lista de obras - Paula Coutinho - Dominio Público Uruguay

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

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 1998

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

artículo científico publicado en 2000

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

artículo científico publicado en 2009

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

artículo científico publicado en 2004

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 1998

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

artículo científico publicado en 2006

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 1999

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

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 2011

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

artículo científico publicado en 2005

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

artículo científico publicado en 2013

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

artículo científico publicado en 1997

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

artículo científico publicado en 2000

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

artículo científico publicado en 2014

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

artículo científico publicado en 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)

artículo científico publicado en 1993

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

artículo científico publicado en 1998

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

artículo científico publicado en 2007

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

artículo científico publicado en 2007

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

artículo científico publicado en 2005

Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.

artículo científico publicado en 2008

Pathological crying in patients with Machado-Joseph disease

artículo científico publicado en 2008

Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.

artículo científico publicado en 1996

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

artículo científico publicado en 2003

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

artículo científico publicado en 2005

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

artículo científico publicado en 2003

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

artículo científico publicado en 2009

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

artículo científico publicado en 2004

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

artículo científico publicado en 2006

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

artículo científico publicado en 2001

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Lista de obras de Paula Coutinho

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

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

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

Alteration of ganglioside biosynthesis responsible for complex 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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Haplotype diversity and somatic instability in normal and expanded SCA8 alleles

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

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

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

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

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

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

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

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

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

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

Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.

Pathological crying in patients with Machado-Joseph disease

Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.

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

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

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

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

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

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

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

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

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