Promoting the clearance of neurotoxic proteins in neurodegenerative disorders of ageing

B Boland, WH Yu, O Corti, B Mollereau… - Nature reviews Drug …, 2018 - nature.com
Neurodegenerative disorders of ageing (NDAs) such as Alzheimer disease, Parkinson
disease, frontotemporal dementia, Huntington disease and amyotrophic lateral sclerosis …

Case definition and classification of leukodystrophies and leukoencephalopathies

A Vanderver, M Prust, D Tonduti, F Mochel… - Molecular genetics and …, 2015 - Elsevier
Objective An approved definition of the term leukodystrophy does not currently exist. The
lack of a precise case definition hampers efforts to study the epidemiology and the relevance …

[HTML][HTML] Energy deficit in Huntington disease: why it matters

F Mochel, RG Haller - The Journal of clinical investigation, 2011 - Am Soc Clin Investig
Huntington disease (HD) is an autosomal dominant neurodegenerative disease with
complete penetrance. Although the understanding of the cellular mechanisms that drive …

[HTML][HTML] Subjective cognitive decline and rates of incident Alzheimer's disease and non–Alzheimer's disease dementia

RER Slot, SAM Sikkes, J Berkhof, H Brodaty… - Alzheimer's & …, 2019 - Elsevier
Introduction In this multicenter study on subjective cognitive decline (SCD) in community-
based and memory clinic settings, we assessed the (1) incidence of Alzheimer's disease …

[PDF][PDF] A neuro-metabolic account of why daylong cognitive work alters the control of economic decisions

A Wiehler, F Branzoli, I Adanyeguh, F Mochel… - Current Biology, 2022 - cell.com
Behavioral activities that require control over automatic routines typically feel effortful and
result in cognitive fatigue. Beyond subjective report, cognitive fatigue has been conceived as …

[HTML][HTML] Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression

F Mochel, P Charles, F Seguin, J Barritault… - PloS one, 2007 - journals.plos.org
Huntington disease (HD) is a fatal neurodegenerative disorder, with no effective treatment.
The pathogenic mechanisms underlying HD have not been elucidated, but weight loss …

An international classification of inherited metabolic disorders (ICIMD)

CR Ferreira, S Rahman, M Keller… - Journal of inherited …, 2021 - Wiley Online Library
Several initiatives at establishing a classification of inherited metabolic disorders have been
published previously, some focusing on pathomechanisms, others on clinical …

[PDF][PDF] Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance

F Mochel, MA Knight, WH Tong, D Hernandez… - The American Journal of …, 2008 - cell.com
A myopathy with severe exercise intolerance and myoglobinuria has been described in
patients from northern Sweden, with associated deficiencies of succinate dehydrogenase …

[PDF][PDF] Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

C Tesson, M Nawara, MAM Salih, R Rossignol… - The American Journal of …, 2012 - cell.com
Hereditary spastic paraplegia (HSP) is considered one of the most heterogeneous groups of
neurological disorders, both clinically and genetically. The disease comprises pure and …

Cognitive and neuroimaging features and brain β-amyloidosis in individuals at risk of Alzheimer's disease (INSIGHT-preAD): a longitudinal observational study

B Dubois, S Epelbaum, F Nyasse, H Bakardjian… - The Lancet …, 2018 - thelancet.com
Background Improved understanding is needed of risk factors and markers of disease
progression in preclinical Alzheimer's disease. We assessed associations between brain β …