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Missing heritability of complex diseases: case solved?

Human genetics, 2020, Vol.139 (1), p.103-113

Génin, Emmanuelle

2020

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A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

Brain (London, England : 1878), 2014-08, Vol.137 (Pt 8), p.2329-2345

2014

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CHCHD10S59L/+ mouse model: Behavioral and neuropathological features of frontotemporal dementia

Neurobiology of disease, 2024-06, Vol.195, p.106498-106498, Article 106498

2024

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CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability

Brain (London, England : 1878), 2022-10, Vol.145 (10), p.3415-3430

2022

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Mitochondria, a Key Target in Amyotrophic Lateral Sclerosis Pathogenesis

Genes, 2023-10, Vol.14 (11), p.1981

2023

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Proliferation of hippocampal progenitors relies on p27-dependent regulation of Cdk6 kinase activity

Cellular and molecular life sciences : CMLS, 2018-10, Vol.75 (20), p.3817-3827

2018

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Concise Review: Forkhead Pathway in the Control of Adult Neurogenesis

Stem cells (Dayton, Ohio), 2014-06, Vol.32 (6), p.1398-1407

2014

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Substrate Specificity Overlap and Interaction between Adrenoleukodystrophy Protein (ALDP/ABCD1) and Adrenoleukodystrophy-related Protein (ALDRP/ABCD2)

The Journal of biological chemistry, 2011-03, Vol.286 (10), p.8075-8084

2011

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Hypogonadotropic Hypogonadism Due to Loss of Function of the KiSS1-Derived Peptide Receptor GPR54

Proceedings of the National Academy of Sciences - PNAS, 2003-09, Vol.100 (19), p.10972-10976

2003

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Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients

Neurobiology of aging, 2014-12, Vol.35 (12), p.2884.e1-2884.e4

2014

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Opening the Black Box of Imputation Software to Study the Impact of Reference Panel Composition on Performance

Genes, 2023-02, Vol.14 (2), p.410

2023

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Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse

Acta neuropathologica, 2019-07, Vol.138 (1), p.123-145

2019

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Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse

PLoS biology, 2014-09, Vol.12 (9), p.e1001952

2014

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Rare variant association testing in the non-coding genome

Human genetics, 2020-11, Vol.139 (11), p.1345-1362

2020

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Incidence of Abcd1 level on the induction of cell death and organelle dysfunctions triggered by very long chain fatty acids and TNF-α on oligodendrocytes and astrocytes

Neurotoxicology (Park Forest South), 2012-03, Vol.33 (2), p.212-228

2012

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Induction of the adrenoleukodystrophy-related gene ( ABCD2) by thyromimetics

The Journal of steroid biochemistry and molecular biology, 2009-08, Vol.116 (1), p.37-43

2009

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Sensitive Skin: Lessons From Transcriptomic Studies

Frontiers in medicine, 2019-05, Vol.6, p.115-115

2019

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Peroxisomal and mitochondrial status of two murine oligodendrocytic cell lines (158N, 158JP): potential models for the study of peroxisomal disorders associated with dysmyelination processes

Journal of neurochemistry, 2009-10, Vol.111 (1), p.119-131

2009

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Privacy-Preserving Genome-Wide Association Study for Rare Mutations - A Secure FrameWork for Externalized Statistical Analysis

IEEE access, 2020, Vol.8 (2), p.112515-112529

2020

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Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

Brain (London, England : 1878), 2015-08, Vol.138 (Pt 8), p.e373-e373

2015

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Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

Brain (London, England : 1878), 2014-12, Vol.137 (Pt 12), p.e312-e312

2014

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Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases

European journal of human genetics : EJHG, 2024-07

2024

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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

American journal of human genetics, 2017-01, Vol.100 (1), p.151-159

2017

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Missing heritability of complex diseases: case solved?

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

CHCHD10S59L/+ mouse model: Behavioral and neuropathological features of frontotemporal dementia

Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability

Mitochondria, a Key Target in Amyotrophic Lateral Sclerosis Pathogenesis

Proliferation of hippocampal progenitors relies on p27-dependent regulation of Cdk6 kinase activity

CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis

Concise Review: Forkhead Pathway in the Control of Adult Neurogenesis

Substrate Specificity Overlap and Interaction between Adrenoleukodystrophy Protein (ALDP/ABCD1) and Adrenoleukodystrophy-related Protein (ALDRP/ABCD2)

Hypogonadotropic Hypogonadism Due to Loss of Function of the KiSS1-Derived Peptide Receptor GPR54

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients

Opening the Black Box of Imputation Software to Study the Impact of Reference Panel Composition on Performance

Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse

Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse

Rare variant association testing in the non-coding genome

Incidence of Abcd1 level on the induction of cell death and organelle dysfunctions triggered by very long chain fatty acids and TNF-α on oligodendrocytes and astrocytes

Induction of the adrenoleukodystrophy-related gene ( ABCD2) by thyromimetics

Sensitive Skin: Lessons From Transcriptomic Studies

Peroxisomal and mitochondrial status of two murine oligodendrocytic cell lines (158N, 158JP): potential models for the study of peroxisomal disorders associated with dysmyelination processes

Privacy-Preserving Genome-Wide Association Study for Rare Mutations - A Secure FrameWork for Externalized Statistical Analysis

Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

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