about
Mapmodulin/leucine-rich acidic nuclear protein binds the light chain of microtubule-associated protein 1B and modulates neuritogenesisAssociation of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complexThe human collagenase-3 (CLG3) gene is located on chromosome 11q22.3 clustered to other members of the matrix metalloproteinase gene familySpinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenaseThe Anp32 family of proteins containing leucine-rich repeats.Anp32e/Cpd1 regulates protein phosphatase 2A activity at synapses during synaptogenesis.Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1.Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.Ataxia rating scales--psychometric profiles, natural history and their application in clinical trials.The spinocerebellar ataxias: clinical aspects and molecular genetics.New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.Ataxin-1 regulates the cerebellar bioenergetics proteome through the GSK3β-mTOR pathway which is altered in Spinocerebellar ataxia type 1 (SCA1).Altered cleavage and localization of PINK1 to aggresomes in the presence of proteasomal stress.The highly heterogeneous spinocerebellar ataxias: from genes to targets for therapeutic intervention.Rare Neurodegenerative Diseases: Clinical and Genetic Update.FMR1 Premutation: Basic Mechanisms and Clinical Involvement.Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1.The ever expanding spinocerebellar ataxias. Editorial.Genotype of an individual single nucleotide polymorphism regulates DNA methylation at the TRPC3 alternative promoter.A novel function of Ataxin-1 in the modulation of PP2A activity is dysregulated in the spinocerebellar ataxia type 1.Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias.SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeatMolecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph diseaseClinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindredMapping of the human Zn-α 2 -glycoprotein gene (AZGP1) to chromosome 7q22 by in situ hybridizationPrenatal diagnosis of werdnig-hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markersCharacterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegiaClinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37
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description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Antoni Matilla
@ast
Antoni Matilla
@en
Antoni Matilla
@es
Antoni Matilla
@nl
type
label
Antoni Matilla
@ast
Antoni Matilla
@en
Antoni Matilla
@es
Antoni Matilla
@nl
prefLabel
Antoni Matilla
@ast
Antoni Matilla
@en
Antoni Matilla
@es
Antoni Matilla
@nl
P106
P21
P31
P496
0000-0002-3514-4181