about
Shifting the CARASIL paradigm: report of a non-Asian family and literature reviewPhenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large familyA 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 migraineCandidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onsetPopulation stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset.Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations.High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal allelesHereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study.EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).Assessing risk factors for migraine: differences in gender transmission.Interaction between γ-aminobutyric acid A receptor genes: new evidence in migraine susceptibilityFXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypesChromosome substitution strain assessment of a Huntington's disease modifier locusLarge-Scale Functional RNAi Screen in C. elegans Identifies TGF-β and Notch Signaling Pathways as Modifiers of CACNA1A.Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegiaGenomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M)Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease.Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onsetGenetic Contributors to Intergenerational CAG Repeat Instability in Huntington's Disease Knock-In Mice.Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.EMQN Best Practice Guidelines for molecular genetic testing of SCAs.Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.Sensory neuronopathy in ataxia with oculomotor apraxia type 2.The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal.BDNF and CGRP interaction: implications in migraine susceptibility.Huntington disease and Huntington disease-like in a case series from Brazil.Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population.Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder.Intergenerational instability in Huntington disease: extreme repeat changes among 134 transmissions.Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients.Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family.Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10.Rare Neurodegenerative Diseases: Clinical and Genetic Update.A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal.Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism.Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil.Clinical spectrum of C9orf72 expansion in a cohort of Huntington's disease phenocopies.mtDNA copy number associated with age of onset in familial amyloid polyneuropathy.
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Isabel Alonso
@ast
Isabel Alonso
@en
Isabel Alonso
@es
Isabel Alonso
@nl
Isabel Alonso
@sl
type
label
Isabel Alonso
@ast
Isabel Alonso
@en
Isabel Alonso
@es
Isabel Alonso
@nl
Isabel Alonso
@sl
prefLabel
Isabel Alonso
@ast
Isabel Alonso
@en
Isabel Alonso
@es
Isabel Alonso
@nl
Isabel Alonso
@sl
P108
P1053
I-4307-2013
P106
P1153
14022380700
P21
P31
P3829
P496
0000-0001-8549-6903