Suran Nethisinghe

发表

SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1–3, 6, and 7 by PCR and Capillary Electrophoresis

Eleonora, G. Stevanin, C. Gellera, 2018 .

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.

G. Stevanin, C. Gellera, G. De Michele, 2018, The Journal of molecular diagnostics : JMD.

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

Tammy M. Havener, Laura E. Herring, L. Herring, 2021, bioRxiv.

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

M. Sweeney, P. Giunti, Mary B. Davis, 2018, Front. Cell. Neurosci..

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

P. Giunti, Suran Nethisinghe, A. Zeitlberger, 2018 .

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

M. Morello, H. Garcia-Moreno, N. Solanky, 2022, Antioxidants.

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

R. Pfundt, M. Reilly, P. Giunti, 2018, Brain : a journal of neurology.

Retinal Imaging in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

M. Reilly, P. Giunti, S. Vermeer, 2011 .

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

Paola Giunti, Nicholas W. Wood, Patricia Limousin, 2018, Front. Cell. Neurosci..

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

I. Brierley, P. Roy, K. Lymperopoulos, 2006, Virology.

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

M. Sweeney, P. Giunti, M. Hanna, 2014, Neurobiology of Aging.

The Role of Interruptions in polyQ in the Pathology of SCA1

A. Pastore, N. Wood, M. Sweeney, 2013, PLoS genetics.

The Developmentally Regulated Expression of Twisted Gastrulation Reveals a Role for Bone Morphogenetic Proteins in the Control of T Cell Development

A. Fisher, M. Merkenschlager, D. Graf, 2002, The Journal of experimental medicine.

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

J. Stevens, M. Reilly, P. Giunti, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

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

V. Ricotti, R. Festenstein, T. Voit, 2023, Nature Medicine.

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

M. Callaghan, F. Cavalcanti, J. Polke, 2021, International journal of molecular sciences.

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

N. Wood, H. Houlden, P. Giunti, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS

P. Giunti, Suran Nethisinghe, R. Abeti, 2021, International journal of molecular sciences.

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

B. Brais, P. Giunti, B. Gentil, 2017, Human molecular genetics.

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

G. Michael, P. Giunti, S. Vermeer, 2016, Human molecular genetics.

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

J. Stevens, M. Reilly, P. Giunti, 2012, Journal of Neurology, Neurosurgery & Psychiatry.