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List of works by Isabel Alonso

A Portuguese rapid-onset dystonia-parkinsonism case with atypical features

scientific article published on 12 May 2017

A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal.

scientific article published on 19 May 2017

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 role for endothelin receptor type A in migraine without aura susceptibility? A study in Portuguese patients.

scientific article

A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations.

scientific article

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

Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)

scientific article

Assessing risk factors for migraine: differences in gender transmission

scientific article

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

scientific article published on April 2013

BDNF and CGRP interaction: implications in migraine susceptibility.

scientific article published on 10 May 2010

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset

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

Chromosome substitution strain assessment of a Huntington's disease modifier locus

scientific article

Clinical spectrum of C9orf72 expansion in a cohort of Huntington's disease phenocopies

scientific article published on 13 February 2018

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

scientific article published on 01 March 2010

DJ-1 linked parkinsonism (PARK7) is associated with Lewy body pathology.

scientific article

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

scientific article published on 24 December 2019

Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?

scientific article published in January 2011

EMQN Best Practice Guidelines for molecular genetic testing of SCAs.

scientific article published on 24 February 2010

EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).

scientific article

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

scientific article

Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset

scientific article published on 20 December 2016

Familial hemiplegic migraine due to L263V SCN1A mutation: Discordance for epilepsy between two kindreds from Douro Valley

scientific article published on 19 March 2014

GNAO1 mutation presenting as dyskinetic cerebral palsy

scientific article published on 12 June 2019

Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington's Disease Knock-In Mice.

scientific article published on 02 December 2016

Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism

scientific article published on 01 November 2019

Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.

scientific article published on 3 May 2016

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease

scientific article published on 05 February 2015

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

scientific article

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

scientific article

Huntington disease and Huntington disease-like in a case series from Brazil

scientific article published on 17 October 2013

Identification of Genetic Risk Factors for Maxillary Lateral Incisor Agenesis

scientific article published on 19 February 2014

Interaction between γ-aminobutyric acid A receptor genes: new evidence in migraine susceptibility

scientific article

Intergenerational instability in Huntington disease: extreme repeat changes among 134 transmissions

scientific article

Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population

scientific article published in October 2010

Large-Scale Functional RNAi Screen in C. elegans Identifies TGF-β and Notch Signaling Pathways as Modifiers of CACNA1A.

scientific article

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

scientific article published on 23 August 2017

Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant

scientific article published on 21 May 2007

Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism.

scientific article published on 19 December 2014

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 stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

scientific article

Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients

scientific article

Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder

scientific article

Proinflammatory and anti-inflammatory cytokines in the CSF of patients with Alzheimer's disease and their correlation with cognitive decline

scientific article published on 07 January 2019

Rare Neurodegenerative Diseases: Clinical and Genetic Update.

scientific article published in January 2017

Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10

scientific article published in May 2006

Sensory neuronopathy in ataxia with oculomotor apraxia type 2.

scientific article published on 24 September 2010

Shifting the CARASIL paradigm: report of a non-Asian family and literature review

scientific article

Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil.

scientific article published on 31 May 2017

Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings

article

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

scientific article

Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M)

scientific article published on 19 August 2015

When Decrease Aβ1-42 in CSF May Not Mean Alzheimer's Disease: Insights From Two Case Reports With Early Onset Dementia

scientific article published on 9 March 2018

mtDNA copy number associated with age of onset in familial amyloid polyneuropathy

scientific article published on 10 October 2017

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