Publications by authors named "Jean-Phillipe Azulay"
Article Synopsis
- - The study aimed to improve the diagnosis of inherited ataxia and related disorders through molecular sequencing, given the complexity and variety of symptoms associated with these diseases.
- - Researchers analyzed 366 patients with undiagnosed ataxia using clinical exome-capture sequencing and established a molecular diagnosis in 46% of cases, uncovering previously unrecognized variants.
- - They highlighted that many patients presented with milder symptoms due to unique genetic variations like hypomorphic variants and specific mechanisms such as C-terminal truncations, identifying PEX10 and FASTKD2 as genes involved in these mild disease presentations.
The present study focuses on the organization of kinematic synergy and its adaptation to an unstable support surface during upper trunk movements in aging adults. Seven healthy aging adults (49-66 years old) were instructed to bend the trunk forward (the head and the trunk together) by about 40 degrees and to stabilize their final position, in the standard condition (both feet on the ground), and on a seesaw swinging in the sagittal plane. Kinematic synergy was quantified by performing a principal components analysis on the hip, knee and ankle angle changes during the movement.
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