Characterization of recessive Parkinson disease in a large multicenter study

…, F Clot, C Tesson, G Mangone, BL Toullec… - Annals of …, 2020 - Wiley Online Library
Studies of the phenotype and population distribution of rare genetic forms of parkinsonism
are required, now that gene‐targeting approaches for Parkinson disease have reached the …

[HTML][HTML] Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic …

…, G Lautrette, T Lebouvier, S Lehéricy, B Le Toullec… - Neurobiology of …, 2019 - Elsevier
A (GGGGCC) n repeat expansion in C9orf72 gene is the major cause of frontotemporal
dementia (FTD) and amyotrophic lateral sclerosis (ALS). The relations between the repeats size …

Primary progressive aphasias associated with C9orf72 expansions: Another side of the story

…, L Lacomblez, J Lagarde, G Lautrette, B Le Toullec… - Cortex, 2021 - Elsevier
C9orf72 repeat expansions are rarely associated with primary progressive aphasias (PPA).
In-depth characterization of the linguistic deficits, and the underlying patterns of grey-matter …

Cognitive inhibition impairments in presymptomatic C9orf72 carriers

…, S Sayah, D Rinaldi, B Le Toullec… - Journal of Neurology …, 2020 - jnnp.bmj.com
Objective To investigate cognitive inhibition in presymptomatic C9orf72 mutation carriers (C9+)
and its associated neuroanatomical correlates. Methods Thirty-eight presymptomatic …

Parkinson's disease polygenic risk score is not associated with impulse control disorders: A longitudinal study

…, H Manseur, M Hajji, B Le Toullec… - Parkinsonism & Related …, 2020 - Elsevier
Objective To examine the relationship between a Parkinson's disease (PD) polygenic risk
score (PRS) and impulse control disorders (ICDs) in PD. Background Genome wide …

[HTML][HTML] A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood

…, F Charbonnier-Beaupel, M Retail, B Le Toullec… - Orphanet Journal of …, 2017 - Springer
Background Based on the hypothesis of a brain energy deficit, we investigated the safety and
efficacy of triheptanoin on paroxysmal episodes in patients with alternating hemiplegia of …

Are PSP patients included in clinical trials representative of the general PSP population?

…, R Guimarães-Costa, D Grabli, B Le Toullec… - Parkinsonism & Related …, 2019 - Elsevier
Background Progressive supranuclear palsy (PSP) is a rare parkinsonian syndrome with a
wide spectrum of clinical presentations. Recently, the MDS published revised diagnosis …

Cortical disorders and muscle weakness in COPD: impact of neuromodulation on intracortical inhibition

V Cabibel, B Le Toullec, N Oliver, N Héraud, A Varray - 2017 - Eur Respiratory Soc
Muscle weakness is a major issue. An increased intracortical inhibition and a lack in central
motor drive have been recently reported in COPD (Alexandre et al., PLoS ONE 9:e100961, …

[HTML][HTML] Opening a new window to other worlds with spectropolarimetry

…, M Meisnar, A Reissner, N Sarda, B Toullec… - Experimental …, 2010 - Springer
A high level of diversity has already been observed among the planets of our own Solar
System. As such, one expects extrasolar planets to present a wide range of distinctive features, …

Genetic and Phenotypic Characterisation of Autosomal Recessive Parkinson's Disease in a Large Multicentre Cohort

…, F Clot, C Tesson, G Mangone, B Le Toullec… - 2019 - papers.ssrn.com
Background: Genetic mutations causing autosomal recessive Parkinson's disease account
for a significant proportion of patients with early-onset disease. However, no large multicentre …