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Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS

International journal of molecular sciences, 2021-10, Vol.22 (21), p.11722

2021

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A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay

Human molecular genetics, 2016-08, Vol.25 (15), p.3232-3244

2016

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Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich’s Ataxia in a Location Dependent Manner

International journal of molecular sciences, 2021-07, Vol.22 (14), p.7507

2021

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The role of interruptions in polyQ in the pathology of SCA1

PLoS genetics, 2013-07, Vol.9 (7), p.e1003648

2013

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Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Genetics in medicine, 2021-10, Vol.23 (10), p.2021-2021

2021

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PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption

Frontiers in cellular neuroscience, 2018-07, Vol.12, p.200-200

2018

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Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases

Antioxidants, 2022-07, Vol.11 (8), p.1436

2022

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Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

Frontiers in cellular neuroscience, 2018-11, Vol.12, p.429-429

2018

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Specific binding of Bluetongue virus NS2 to different viral plus-strand RNAs

Virology (New York, N.Y.), 2006-09, Vol.353 (1), p.17-26

2006

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A wearable motion capture suit and machine learning predict disease progression in Friedreich's ataxia

Nature medicine, 2023-01, Vol.29 (1), p.86-94

2023

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Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay

Brain (London, England : 1878), 2018-04, Vol.141 (4), p.989-999

2018

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Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset

Journal of neurology, neurosurgery and psychiatry, 2018-11, Vol.89 (11), p.1226

2018

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Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin

Human molecular genetics, 2017-08, Vol.26 (16), p.3130-3143

2017

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Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Genetics in medicine, 2020-11, Vol.22 (11), p.1851-1862

2020

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Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization

Cell reports (Cambridge), 2022-11, Vol.41 (5), p.111580-111580, Article 111580

2022

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Advances in the understanding of hereditary ataxia - implications for future patients

Expert opinion on orphan drugs, 2018-03, Vol.6 (3), p.203-217

2018

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Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis

The Journal of molecular diagnostics : JMD, 2018-05, Vol.20 (3), p.289-297

2018

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The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits

Journal of neurology, neurosurgery and psychiatry, 2013-01, Vol.84 (1), p.114-116

2013

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Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions

Neurobiology of aging, 2014-02, Vol.35 (2), p.443.e1-443.e3

2014

Volltextzugriff (PDF)

Spinocerebellar Ataxia Tethering PCR

The Journal of molecular diagnostics : JMD, 2018-05, Vol.20 (3), p.289-297

2018

Volltextzugriff (PDF)

The Role of Interruptions in polyQ in the Pathology of SCA1: e1003648

PLoS genetics, 2013-07, Vol.9 (7)

2013

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The developmentally regulated expression of Twisted gastrulation reveals a role for bone morphogenetic proteins in the control of T cell development

The Journal of experimental medicine, 2002-07, Vol.196 (2), p.163-171

2002

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Retinal Imaging in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Neuro-ophthalmology (Amsterdam : Aeolus Press. 1980), 2011-08, Vol.35 (4), p.197-201

2011

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Further characterisation of bluetongue virus non-structural protein 2

Nethisinghe, Suran

2007

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Retinal Imaging in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Neuro-Ophthalmology, 2011, Vol.35 (4), p.197-201

2011

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Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS

A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay

Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich’s Ataxia in a Location Dependent Manner

The role of interruptions in polyQ in the pathology of SCA1

Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption

Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

Specific binding of Bluetongue virus NS2 to different viral plus-strand RNAs

A wearable motion capture suit and machine learning predict disease progression in Friedreich's ataxia

Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay

Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset

Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization

Advances in the understanding of hereditary ataxia - implications for future patients

Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis

The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits

Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions

Spinocerebellar Ataxia Tethering PCR

The Role of Interruptions in polyQ in the Pathology of SCA1: e1003648

The developmentally regulated expression of Twisted gastrulation reveals a role for bone morphogenetic proteins in the control of T cell development

Retinal Imaging in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Further characterisation of bluetongue virus non-structural protein 2

Retinal Imaging in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

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