Alessandra Mauri-Crouzet
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Explore the profile of Alessandra Mauri-Crouzet including associated specialties, affiliations and a list of published articles.
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5
Citations
87
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Recent Articles
1.
Ropert B, Bannwarth S, Genin E, Vaillant-Beuchot L, Lacas-Gervais S, Hounoum B, et al.
Brain
. 2024 Oct;
PMID: 39478664
The identification of a point mutation (p.Ser59Leu) in the CHCHD10 gene was the first genetic evidence that mitochondrial dysfunction can trigger motor neuron disease. Since then, we have shown that...
2.
Genin E, di Borgo P, Lorivel T, Hugues S, Farinelli M, Mauri-Crouzet A, et al.
Neurobiol Dis
. 2024 Apr;
195:106498.
PMID: 38583639
CHCHD10-related disease causes a spectrum of clinical presentations including mitochondrial myopathy, cardiomyopathy, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). We generated a knock-in mouse model bearing the p.Ser59Leu (S59L)...
3.
Genin E, Bannwarth S, Ropert B, Lespinasse F, Mauri-Crouzet A, Auge G, et al.
Brain
. 2022 Jun;
145(10):3415-3430.
PMID: 35656794
CHCHD10 is an amyotrophic lateral sclerosis/frontotemporal dementia gene that encodes a mitochondrial protein whose precise function is unclear. Here we show that Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing protein 10 interacts with the...
4.
Genin E, Hounoum B, Bannwarth S, Fragaki K, Lacas-Gervais S, Mauri-Crouzet A, et al.
Acta Neuropathol
. 2019 Mar;
138(1):123-145.
PMID: 30874923
Recently, we provided genetic basis showing that mitochondrial dysfunction can trigger motor neuron degeneration, through identification of CHCHD10 encoding a mitochondrial protein. We reported patients, carrying the p.Ser59Leu heterozygous mutation...
5.
Genin E, Bannwarth S, Lespinasse F, Ortega-Vila B, Fragaki K, Itoh K, et al.
Neurobiol Dis
. 2018 Aug;
119:159-171.
PMID: 30092269
Following the involvement of CHCHD10 in FrontoTemporal-Dementia-Amyotrophic Lateral Sclerosis (FTD-ALS) clinical spectrum, a founder mutation (p.Gly66Val) in the same gene was identified in Finnish families with late-onset spinal motor neuronopathy...