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Fanny Mochel

Researcher at University of Paris

Publications -  176
Citations -  6574

Fanny Mochel is an academic researcher from University of Paris. The author has contributed to research in topics: Medicine & Triheptanoin. The author has an hindex of 42, co-authored 156 publications receiving 4861 citations. Previous affiliations of Fanny Mochel include University of Rostock & University of Minnesota.

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Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression.

TL;DR: In this paper, a multivariate statistical analysis of plasma components quantified by proton nuclear magnetic resonance (1H NMR) spectroscopy was performed to identify early stages of the Huntington disease.
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Subjective cognitive decline and rates of incident Alzheimer's disease and non–Alzheimer's disease dementia

Rosalinde E.R. Slot, +85 more
TL;DR: The incidence of Alzheimer's disease and non‐AD dementia and determinants of progression to dementia are assessed and subjective cognitive decline in community‐based and memory clinic settings is assessed.
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Energy deficit in Huntington disease: Why it matters

TL;DR: The clinical, biochemical, and molecular evidence of an energy deficit in HD is reviewed and the mechanisms underlying mitochondrial and related alterations are discussed.
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Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance.

TL;DR: The gene for the iron-sulfur cluster scaffold protein ISCU was identified as a candidate within a region of shared homozygosity among patients with this disease, and a single mutation in ISCU likely strengthens a weak splice acceptor site, with consequent exon retention.