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Mitochondrial proteolytic stress induced by loss of mortalin function is rescued by Parkin and PINK1

Cell death & disease, 2014-04, Vol.5 (4), p.e1180-e1180

2014

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The Undiagnosed Diseases Network International: Five years and more

Molecular genetics and metabolism, 2020-04, Vol.129 (4), p.243-254

2020

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Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3)

Human molecular genetics, 2013-02, Vol.22 (3), p.508-518

2013

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Transgenic rat model of Huntington's disease

Human molecular genetics, 2003-03, Vol.12 (6), p.617-624

2003

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Genetic panel sequencing for advanced stage cancer disease in the clinic

Annals of oncology, 2017-10, Vol.28, p.vii17-vii17

2017

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EP-1074: Circulating cell free DNA: dynamics in patients with head and neck cancer during radiochemotherapy

Radiotherapy and oncology, 2016-04, Vol.119, p.S516-S517

2016

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Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease

Human molecular genetics, 2008-04, Vol.17 (8), p.1137-1146

2008

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Collaboration in NeurOmics: Enabling effective data-sharing and maximising impact in neuromuscular disease

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S298-S298

2015

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B05 New Light On The Role Of Calpain-mediated Proteolysis Of Mutant Huntingtin

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (Suppl 1), p.A10-A10

2014

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B21 Characterisation Of Mice Overexpressing Mutant Huntingtin Lacking The Spine Morphogenesis Regulator Kalirin-7

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (Suppl 1), p.A16-A16

2014

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Induction of STAT3-related genes in fast degenerating cone photoreceptors of cpfl1 mice

Cellular and molecular life sciences : CMLS, 2010-09, Vol.67 (18), p.3173-3186

2010

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NeurOmics: EU-funded-omics research for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S298-S299

2015

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3.309 THE GUANINE NUCLEOTIDE EXCHANGE FACTOR KALIRIN-7 IS A NOVEL SYNPHILIN-1 INTERACTING PROTEIN

Parkinsonism & related disorders, 2012, Vol.18, p.S221-S221

2012

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M06 Olesoxime Treatment Inhibits The Formation Of Mhtt Fragments Through Suppression Of Calpain Activity, And Leads To Behavioural And Neurological Improvements In The Bachd Rat

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (Suppl 1), p.A96-A96

2014

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Specific transcriptional changes in human fetuses with autosomal trisomies

Cytogenetic and genome research, 2007-01, Vol.119 (3-4), p.171-184

2007

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Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study

American journal of human genetics, 2001-02, Vol.68 (2), p.523-528

2001

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Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype

Journal of medical genetics, 2004-03, Vol.41 (3), p.230-232

2004

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Mirror-Image Asymmetry in Monozygotic Twins with Kabuki Syndrome

Molecular syndromology, 2012-08, Vol.3 (2), p.94-97

2012

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Recommendations for whole genome sequencing in diagnostics for rare diseases

European journal of human genetics : EJHG, 2022-09, Vol.30 (9), p.1017-1021

2022

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3.002 PD: Genetics

Parkinsonism & related disorders, 2007, Vol.13, p.S147-S147

2007

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3.062 ATAXIN-2 INTERMEDIATE POLYGLUTAMINE EXPANSIONS CONTRIBUTE TO RISK OF ALS AND OF EARLY ONSET HEREDITARY PD

Parkinsonism & related disorders, 2012, Vol.18, p.S184-S184

2012

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Early postnatal behavioral, cellular, and molecular changes in models of Huntington disease are reversible by HDAC inhibition

Proceedings of the National Academy of Sciences - PNAS, 2018-09, Vol.115 (37), p.E8765-E8774

2018

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Behandlungs- und Forschungszentrum für Seltene Erkrankungen Tübingen

Medizinische Genetik, 2010-09, Vol.22 (3), p.351-362

2010

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Hereditäre Ataxien: Aktuelle Übersicht und diagnostische Strategien

Medizinische Genetik, 2013-07, Vol.25 (2), p.235-248

2013

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Einzelbasen-Polymorphismen im Östrogenrezeptor-α als Hinweis auf eine mögliche Fehlfunktion des Rezeptors und Ursache für das Mayer-Rokitansky-Küster-Hauser-Syndrom (MRKHS)

Geburtshilfe und Frauenheilkunde, 2016, Vol.76 (10)

2016

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Mitochondrial proteolytic stress induced by loss of mortalin function is rescued by Parkin and PINK1

The Undiagnosed Diseases Network International: Five years and more

Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3)

Transgenic rat model of Huntington's disease

Genetic panel sequencing for advanced stage cancer disease in the clinic

EP-1074: Circulating cell free DNA: dynamics in patients with head and neck cancer during radiochemotherapy

Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease

Collaboration in NeurOmics: Enabling effective data-sharing and maximising impact in neuromuscular disease

B05 New Light On The Role Of Calpain-mediated Proteolysis Of Mutant Huntingtin

B21 Characterisation Of Mice Overexpressing Mutant Huntingtin Lacking The Spine Morphogenesis Regulator Kalirin-7

Induction of STAT3-related genes in fast degenerating cone photoreceptors of cpfl1 mice

NeurOmics: EU-funded-omics research for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases

3.309 THE GUANINE NUCLEOTIDE EXCHANGE FACTOR KALIRIN-7 IS A NOVEL SYNPHILIN-1 INTERACTING PROTEIN

M06 Olesoxime Treatment Inhibits The Formation Of Mhtt Fragments Through Suppression Of Calpain Activity, And Leads To Behavioural And Neurological Improvements In The Bachd Rat

Specific transcriptional changes in human fetuses with autosomal trisomies

Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study

Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype

Mirror-Image Asymmetry in Monozygotic Twins with Kabuki Syndrome

Recommendations for whole genome sequencing in diagnostics for rare diseases

3.002 PD: Genetics

3.062 ATAXIN-2 INTERMEDIATE POLYGLUTAMINE EXPANSIONS CONTRIBUTE TO RISK OF ALS AND OF EARLY ONSET HEREDITARY PD

Early postnatal behavioral, cellular, and molecular changes in models of Huntington disease are reversible by HDAC inhibition

Behandlungs- und Forschungszentrum für Seltene Erkrankungen Tübingen

Hereditäre Ataxien: Aktuelle Übersicht und diagnostische Strategien

Einzelbasen-Polymorphismen im Östrogenrezeptor-α als Hinweis auf eine mögliche Fehlfunktion des Rezeptors und Ursache für das Mayer-Rokitansky-Küster-Hauser-Syndrom (MRKHS)

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