Development of new outcome measures for adult SMA type III and IV: a multimodal longitudinal study

G Querin, T Lenglet, R Debs, T Stojkovic, A Behin… - Journal of …, 2021 - Springer
Objective The aim of this study was the comprehensive characterisation of longitudinal
clinical, electrophysiological and neuroimaging measures in type III and IV adult spinal …

Motor patterns of patients with spinal muscular atrophy suggestive of sensory and corticospinal contributions to the development of locomotor muscle synergies

VCK Cheung, SCW Ha… - Journal of …, 2024 - journals.physiology.org
Complex locomotor patterns are generated by combination of muscle synergies. How
genetic processes, early sensorimotor experiences, and the developmental dynamics of …

Biomarkers of disease progression in adolescents and adults with 5q spinal muscular atrophy: a systematic review and meta-analysis

M Gavriilaki, M Moschou, V Papaliagkas, K Notas… - Neuromuscular …, 2022 - Elsevier
Since the introduction of disease modifying treatments there is an unmet need to identify
biomarkers of spinal muscular atrophy (SMA) natural history. We performed a systematic …

Mapping cortical disease-burden at individual-level in frontotemporal dementia: implications for clinical care and pharmacological trials

MC McKenna, M Tahedl, J Lope, RH Chipika… - Brain imaging and …, 2022 - Springer
Imaging studies of FTD typically present group-level statistics between large cohorts of
genetically, molecularly or clinically stratified patients. Group-level statistics are …

Evaluation and categorisation of individual patients based on white matter profiles: Single-patient diffusion data interpretation in neurodegeneration

M Tahedl, A Murad, J Lope, O Hardiman… - Journal of the neurological …, 2021 - Elsevier
The majority of radiology studies in neurodegenerative conditions infer group-level imaging
traits from group comparisons. While this strategy is helpful to define phenotype-specific …

Pre-symptomatic radiological changes in frontotemporal dementia: propagation characteristics, predictive value and implications for clinical trials

MC McKenna, J Lope, EL Tan, P Bede - Brain imaging and behavior, 2022 - Springer
Computational imaging and quantitative biomarkers offer invaluable insights in the pre-
symptomatic phase of neurodegenerative conditions several years before clinical …

Cerebellar degeneration in adult spinal muscular atrophy patients

FC de Borba, G Querin, MC França, PF Pradat - Journal of neurology, 2020 - Springer
Background Spinal muscular atrophy (SMA) is a genetic motor neuron disease related to
deletions in the SMN1 gene. There is mounting evidence that the disease is not restricted to …

Neuroimaging in hereditary spastic paraplegias: from qualitative cues to precision biomarkers

G Mulkerrin, MC França Jr, J Lope… - Expert review of …, 2022 - Taylor & Francis
Introduction Hereditary spastic paraplegias (HSP) include a clinically and genetically
heterogeneous group of conditions. Novel imaging modalities have been increasingly …

Magnetization transfer ratio: a quantitative imaging biomarker for 5q spinal muscular atrophy

J Kollmer, T Kessler, G Sam, JM Hayes… - European Journal of …, 2021 - Wiley Online Library
Background and purpose We quantified peripheral nerve lesions in adults with 5q‐linked
spinal muscular atrophy (SMA) type 3 by analysing the magnetization transfer ratio (MTR) of …

Imaging extra-motor dysfunction in motor neuron disease: achievements and controversies

P Bede, RH Chipika, EL Tan - Amyotrophic Lateral Sclerosis and …, 2023 - Taylor & Francis
There is an ever growing literature on frontotemporal dysfunction in motor neuron diseases,
but the practical caveats of using imaging to evaluate extra-motor changes and linking …