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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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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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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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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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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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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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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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Analysis of Mitochondrial Targeting Sequence and Coding Region Polymorphisms of the Manganese Superoxide Dismutase Gene in German Parkinson Disease Patients

Biochemical and biophysical research communications, 1999-02, Vol.255 (3), p.749-752

1999

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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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Widespread thalamic and cerebellar degeneration in a patient with a complicated hereditary spastic paraplegia (HSP)

Annals of anatomy, 2009-04, Vol.191 (2), p.203-211

2009

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Multiple organ failure due to 5-fluorouracil chemotherapy in a patient with a rare dihydropyrimidine dehydrogenase gene variant

Onkologie, 2004-12, Vol.27 (6), p.559

2004

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LRRK2 guides the actin cytoskeleton at growth cones together with ARHGEF7 and Tropomyosin 4

Biochimica et biophysica acta, 2013-12, Vol.1832 (12), p.2352-2367

2013

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Hereditäre Ataxien

Medizinische Genetik, 2013-06, Vol.102 (2), p.235-248

2013

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C07 The Influence Of Obesity And Reduced Food Intake On The Behavioural Characterisation Of The Bachd Rat Model Of Huntington Disease

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (Suppl 1), p.A27-A27

2014

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B15 Dysregulation of Gene Expression in the Striatum of Bachd Rats and Abnormalities Involved on Molecular and Protein Levels

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (Suppl 1), p.A14-A14

2014

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B15Dysregulation of Gene Expression in the Striatum of Bachd Rats and Abnormalities Involved on Molecular and Protein Levels

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (Suppl 1), p.A14-A14

2014

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APPLICATION OF NEXT GENERATION TECHNOLOGIES

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S146-S147

2021

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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)

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

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

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

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

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

Mirror-Image Asymmetry in Monozygotic Twins with Kabuki Syndrome

Recommendations for whole genome sequencing in diagnostics for rare diseases

Analysis of Mitochondrial Targeting Sequence and Coding Region Polymorphisms of the Manganese Superoxide Dismutase Gene in German Parkinson Disease Patients

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)

Widespread thalamic and cerebellar degeneration in a patient with a complicated hereditary spastic paraplegia (HSP)

Multiple organ failure due to 5-fluorouracil chemotherapy in a patient with a rare dihydropyrimidine dehydrogenase gene variant

LRRK2 guides the actin cytoskeleton at growth cones together with ARHGEF7 and Tropomyosin 4

Hereditäre Ataxien

C07 The Influence Of Obesity And Reduced Food Intake On The Behavioural Characterisation Of The Bachd Rat Model Of Huntington Disease

B15 Dysregulation of Gene Expression in the Striatum of Bachd Rats and Abnormalities Involved on Molecular and Protein Levels

B15Dysregulation of Gene Expression in the Striatum of Bachd Rats and Abnormalities Involved on Molecular and Protein Levels

APPLICATION OF NEXT GENERATION TECHNOLOGIES

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