List of works - Emmanuelle C Genin

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

scientific article

ABCA7 rare variants and Alzheimer disease risk

scientific article published on April 2016

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

scientific article

CHCHD10mutations are not a common cause ofSMN1-negative type III/IV spinal motor atrophy

scientific article published on 31 August 2015

Concise review: forkhead pathway in the control of adult neurogenesis

scientific article published on June 2014

Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

scientific article published on 14 July 2017

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.

scientific article

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

scientific article published on 3 May 2009

LXR antagonists induce ABCD2 expression

scientific article published on 01 February 2014

Letter to the Editor on a paper by Hsiao C-T, Tsai P-C, Liao Y-C, Lee Y-C, Soong B-W. C9ORF72 repeat expansion is not a significant cause of late-onset cerebellar ataxia syndrome. J Neurol Sci 2014;347:322–324

article

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

scientific article published on 06 August 2018

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

scientific article published on 14 March 2019

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

scientific journal article

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

scientific article

Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

scientific article published on 12 February 2015

Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

scientific article published on 27 October 2014

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

scientific article published on 8 January 2015

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China

scientific article published on 30 December 2015

Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

scientific article published on 7 May 2015

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

scientific article published on 26 September 2014

Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.

scientific article published on 11 August 2014

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

scientific article published on 24 July 2014

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

scientific article published on January 5, 2011

List of works by Emmanuelle C Genin

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

ABCA7 rare variants and Alzheimer disease risk

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

CHCHD10mutations are not a common cause ofSMN1-negative type III/IV spinal motor atrophy

Concise review: forkhead pathway in the control of adult neurogenesis

Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

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.

LXR antagonists induce ABCD2 expression

Letter to the Editor on a paper by Hsiao C-T, Tsai P-C, Liao Y-C, Lee Y-C, Soong B-W. C9ORF72 repeat expansion is not a significant cause of late-onset cerebellar ataxia syndrome. J Neurol Sci 2014;347:322–324

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

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

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

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

Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

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

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China

Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

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

Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.

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

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