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Tarja Joensuu

Tarja Joensuu,University of Helsinki,Genetics & Genealogy,Neuroscience,Cell Biology

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Tarja Joensuu

University of Helsinki

Publications: 20 | Citations: 295

Fields: Genetics & Genealogy, Neuroscience, Cell Biology

Collaborated with 133 co-authors from 1990 to 2009 | Cited by 1262 authors

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Publications (20)

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Cystatin B Deficiency Sensitizes Neurons to Oxidative Stress in Progressive Myoclonus Epilepsy, EPM1 (Citations: 9)

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Journal: Journal of Neuroscience - J NEUROSCI , vol. 29, no. 18, pp. 5910-5915, 2009

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure (Citations: 3)

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Journal: Annals of Neurology - ANN NEUROL , vol. 66, no. 4, pp. 532-536, 2009

Molecular background of EPM1—Unverricht–Lundborg disease (Citations: 13)

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Journal: Epilepsia , vol. 49, no. 4, pp. 557-563, 2008

Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients (Citations: 14)

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Journal: European Journal of Human Genetics - EUR J HUMAN GENET , vol. 15, no. 2, pp. 185-193, 2007

Development of a genotyping microarray for Usher syndrome

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Journal: Journal of Medical Genetics - J MED GENET , pp. 153-160, 2007

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Citations (295 times by 241 publications)

A Genetic Basis for Mechanosensory Traits in Humans

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Journal: PLOS Biology - PLOS BIOL , vol. 10, no. 5, 2012

A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum–Associated Protein Degradation (ERAD) Machinery

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Journal: PLOS Genetics - PLOS GENET , vol. 8, no. 6, 2012

Protein translocation across the ER membrane (Citations: 5)

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Journal: Biochimica Et Biophysica Acta-biomembranes - BBA-BIOMEMBRANES , vol. 1808, no. 3, pp. 912-924, 2011

Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip (Citations: 2)

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Journal: Ophthalmology , vol. 118, no. 1, pp. 160-167.e3, 2011

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

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Journal: Orphanet Journal of Rare Diseases - ORPHANET J RARE DIS , vol. 6, no. 1, pp. 1-19, 2011

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Co-authors (133)

Journals (13)

Keywords (54)

Tarja Joensuu,University of Helsinki,Genetics & Genealogy,Neuroscience,Cell Biology

Publications (20)

BibTeX | RIS | RefWorks Download

Cystatin B Deficiency Sensitizes Neurons to Oxidative Stress in Progressive Myoclonus Epilepsy, EPM1 (Citations: 9)

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure (Citations: 3)

Molecular background of EPM1—Unverricht–Lundborg disease (Citations: 13)

Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients (Citations: 14)

Development of a genotyping microarray for Usher syndrome

Citations (295 times by 241 publications)

A Genetic Basis for Mechanosensory Traits in Humans

A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum–Associated Protein Degradation (ERAD) Machinery

Protein translocation across the ER membrane (Citations: 5)

Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip (Citations: 2)

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis


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Tarja Joensuu,University of Helsinki,Genetics & Genealogy,Neuroscience,Cell Biology

Publications (20) BibTeX | RIS | RefWorks Download

Cystatin B Deficiency Sensitizes Neurons to Oxidative Stress in Progressive Myoclonus Epilepsy, EPM1 (Citations: 9)

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure (Citations: 3)

Molecular background of EPM1—Unverricht–Lundborg disease (Citations: 13)

Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients (Citations: 14)

Protein translocation across the ER membrane (Citations: 5)

Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip (Citations: 2)

Publications (20)

BibTeX | RIS | RefWorks Download