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List of works by Antoni Matilla

A novel function of Ataxin-1 in the modulation of PP2A activity is dysregulated in the spinocerebellar ataxia type 1.

scientific article published on 29 April 2013

Altered cleavage and localization of PINK1 to aggresomes in the presence of proteasomal stress

scientific article published on July 2006

Anp32e/Cpd1 regulates protein phosphatase 2A activity at synapses during synaptogenesis.

scientific article

Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex

scientific article (publication date: 15 November 2001)

Ataxia rating scales--psychometric profiles, natural history and their application in clinical trials.

scientific article published on June 2012

Ataxin-1 regulates the cerebellar bioenergetics proteome through the GSK3β-mTOR pathway which is altered in Spinocerebellar ataxia type 1 (SCA1).

scientific article published on 27 July 2016

Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia

scientific article published on 16 November 2014

Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37

scientific article published on 01 July 2018

Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1.

scientific article published on January 2008

Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred

scientific article published on 01 January 1995

Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias

scientific article published on April 2014

Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1.

scientific article published on 28 June 2007

FMR1 Premutation: Basic Mechanisms and Clinical Involvement.

scientific article published on 23 June 2016

Genotype of an individual single nucleotide polymorphism regulates DNA methylation at the TRPC3 alternative promoter.

scientific article published in October 2011

Machado-Joseph Disease and other Rare Spinocerebellar Ataxias ⬇️

scientific article published on January 1, 2012

Mapmodulin/leucine-rich acidic nuclear protein binds the light chain of microtubule-associated protein 1B and modulates neuritogenesis

scientific article (publication date: 5 September 2003)

Mapping of the human Zn-α 2 -glycoprotein gene (AZGP1) to chromosome 7q22 by in situ hybridization

article

Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease

article by Antoni Matilla et al published July 1995 in Annals of Neurology

New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.

scientific article published on 28 September 2016

Prenatal diagnosis of werdnig-hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers

scientific article published on 01 March 1994

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.

scientific article published in December 1993

Rare Neurodegenerative Diseases: Clinical and Genetic Update.

scientific article published in January 2017

SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat

article

Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase

scientific article

The Anp32 family of proteins containing leucine-rich repeats.

scientific article

The ever expanding spinocerebellar ataxias. Editorial.

scientific article published in December 2012

The highly heterogeneous spinocerebellar ataxias: from genes to targets for therapeutic intervention.

scientific article published in January 2008

The human collagenase-3 (CLG3) gene is located on chromosome 11q22.3 clustered to other members of the matrix metalloproteinase gene family

scientific article

The spinocerebellar ataxias: clinical aspects and molecular genetics.

scientific article published on January 2012

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