BETA: Related publications
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| Cunha P, Petit E, Coutelier M, et al. (2023) Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias. American Journal of Human Genetics |
| Raposo M, Bettencourt C, Melo ARV, et al. (2021) Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing. Neurobiology of Disease. 162: 105578 |
| Damásio J, Santos M, Samões R, et al. (2021) Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype. Clinical Genetics |
| Akçimen F, Martins S, Liao C, et al. (2020) Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease. Aging. 12 |
| Morais S, Raymond L, Mairey M, et al. (2017) Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. European Journal of Human Genetics : Ejhg |
| Seixas AI, Loureiro JR, Costa C, et al. (2017) A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. American Journal of Human Genetics. 101: 87-103 |
| Bras J, Alonso I, Barbot C, et al. (2015) Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. American Journal of Human Genetics. 96: 474-9 |
| Martins S, Pearson CE, Coutinho P, et al. (2014) Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes. Human Genetics. 133: 1311-8 |
| Bettencourt C, Raposo M, Kazachkova N, et al. (2013) Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3). Cerebellum (London, England). 11: 1045-50 |
| Conceição Pereira M, Loureiro JL, Pinto-Basto J, et al. (2012) Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 14: 143-51 |