Clinical features of Friedreich ataxia

MB Delatycki, LA Corben - Journal of child neurology, 2012 - journals.sagepub.com
Friedreich ataxia, the most common hereditary ataxia, affects approximately 1 per 29,000
white individuals. In about 98% of these individuals, it is due to homozygosity for a GAA …

Quantitative meta-analysis of fMRI and PET studies reveals consistent activation in fronto-striatal-parietal regions and cerebellum during antisaccades and …

SD Jamadar, J Fielding, GF Egan - Frontiers in psychology, 2013 - frontiersin.org
The antisaccade task is a classic task of oculomotor control that requires participants to
inhibit a saccade to a target and instead make a voluntary saccade to the mirror opposite …

Roles of the cerebellum in motor preparation and prediction of timing

M Tanaka, J Kunimatsu, TW Suzuki, M Kameda… - Neuroscience, 2021 - Elsevier
The cerebellum is thought to have a variety of functions because it developed with the
evolution of the cerebrum and connects with different areas in the frontoparietal cortices …

Where to hide the bits?

B Johnson, P Schöttle, R Böhme - Decision and Game Theory for Security …, 2012 - Springer
We present a stochastic two-player zero-sum game between defender and attacker related
to the security of practical steganography. The defender wants to hide a message in a cover …

Fronto‐cerebellar dysfunction and dysconnectivity underlying cognition in friedreich ataxia: The IMAGE‐FRDA study

IH Harding, LA Corben, E Storey, GF Egan… - Human brain …, 2016 - Wiley Online Library
Friedreich ataxia (FRDA) is a progressive neurodegenerative disorder defined by pathology
within the cerebellum and spinal tracts. Although FRDA is most readily linked to motor and …

Binaural speech processing in individuals with auditory neuropathy

G Rance, MM Ryan, P Carew, LA Corben, E Yiu, J Tan… - Neuroscience, 2012 - Elsevier
Auditory neuropathy disrupts the neural representation of sound and may therefore impair
processes contingent upon inter-aural integration. The aims of this study were to investigate …

Cell and gene therapy for Friedreich ataxia: progress to date

MV Evans-Galea, A Pebay, M Dottori… - Human gene …, 2014 - liebertpub.com
Neurodegenerative disorders such as Friedreich ataxia (FRDA) present significant
challenges in developing effective therapeutic intervention. Current treatments aim to …

Ocular motor signatures of cognitive dysfunction in multiple sclerosis

J Fielding, M Clough, S Beh, L Millist, D Sears… - Nature Reviews …, 2015 - nature.com
The anatomical and functional overlap between ocular motor command circuitry and the
higher-order networks that form the scaffolding for cognition makes for a compelling …

Quantitative oculomotor assessment in hereditary ataxia: discriminatory power, correlation with severity measures, and recommended parameters for specific …

P Garces, CA Antoniades, A Sobanska, N Kovacs… - The Cerebellum, 2024 - Springer
Characterizing bedside oculomotor deficits is a critical factor in defining the clinical
presentation of hereditary ataxias. Quantitative assessments are increasingly available and …

Exploring inhibitory deficits in female premutation carriers of fragile X syndrome: through eye movements

AL Shelton, K Cornish, C Kraan… - Brain and …, 2014 - Elsevier
There is evidence which demonstrates that a subset of males with a premutation CGG
repeat expansion (between 55 and 200 repeats) of the fragile X mental retardation 1 gene …