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List of works by Sandra Martins

A Pipeline to Assess Disease-Associated Haplotypes in Repeat Expansion Disorders: The Example of MJD/SCA3

scientific article published on 05 February 2019

A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus

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

scientific article

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

article

Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis

article

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

scientific article published in June 2008

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

scientific article published on 01 March 2010

Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?

scientific article published on 27 October 2016

Diversity in the androgen receptor CAG repeat has been shaped by a multistep mutational mechanism

scientific article published on 31 July 2014

Haplotype diversity and somatic instability in normal and expanded SCA8 alleles

scientific article published on 01 November 2005

Haplotype study of microsatellites flanking the t(15;17) breakpoint in acute promyelocytic leukemia patients from North Portugal.

scientific article published in July 2002

Is the High Frequency of Machado-Joseph Disease in China Due to New Mutational Origins?

article

Machado-Joseph disease in a Nigerian family: mutational origin and review of the literature

scientific article

Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes

scientific article

Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution.

scientific article published on 9 January 2019

Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala

scientific article

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.

scientific article published on 29 September 2010

Origins and Spread of Machado-Joseph Disease Ancestral Mutations Events.

scientific article published in January 2018

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

scientific article

Thymidylate synthase polymorphisms are associated to therapeutic outcome of advanced non-small cell lung cancer patients treated with platinum-based chemotherapy

scientific article published on 20 February 2014

Yemenite-Jewish families with Machado-Joseph disease (MJD/SCA3) share a recent common ancestor

scientific article published on 12 June 2019

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