Lista de obras - Emmanuelle C Genin - Dominio Público Uruguay

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

artículo científico publicado en 2014

ABCA7 rare variants and Alzheimer disease risk

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Concise review: forkhead pathway in the control of adult neurogenesis

artículo científico

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

artículo científico publicado en 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.

artículo científico publicado en 2011

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

artículo científico publicado en 2009

LXR antagonists induce ABCD2 expression

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado el 5 de enero de 2011

Lista de obras de 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) ⬇️