Lista de obras -

A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders.

artículo científico publicado en 2018

Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease.

artículo científico publicado en 2009

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases

article

Adult-onset cerebral X-linked adrenoleukodystrophy with major contrast-enhancement mimicking acquired disease.

artículo científico publicado en 2013

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

artículo científico publicado en 2014

Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.

artículo científico publicado en 2015

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression

artículo científico publicado en 2016

Clinical and genetic characteristics of late-onset Huntington's disease

artículo científico publicado en 2018

Dissociation between decision-making under risk and decision-making under ambiguity in premanifest and manifest Huntington's disease

artículo científico publicado en 2017

Effectiveness of anti-psychotics and related drugs in the Huntington French-speaking group cohort

artículo científico publicado en 2014

Episodic memory decline in Huntington's disease, a binding deficit?

artículo científico publicado en 2013

Estimation of the inbreeding coefficient through use of genomic data

artículo científico publicado en 2003

Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity.

artículo científico publicado en 2009

G51D α‐synuclein mutation causes a novel Parkinsonian–pyramidal syndrome ⬇️

artículo científico publicado el 1 de abril de 2013

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination

artículo científico publicado en 2019

Hereditary optic neuropathies share a common mitochondrial coupling defect.

artículo científico publicado en 2008

Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration.

artículo científico publicado en 2011

Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.

artículo científico publicado en 2014

In vivo evidence for the selective subcortical degeneration in Huntington's disease.

artículo científico publicado en 2009

Language processing within the striatum: evidence from a PET correlation study in Huntington's disease

artículo científico publicado en 2008

Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.

artículo científico publicado en 2010

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

artículo científico publicado en 2015

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

artículo científico publicado en 2005

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

artículo científico publicado en 2008

OPA1-associated disorders: phenotypes and pathophysiology.

artículo científico publicado en 2009

Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy

scientific article published on May 2010

Sensorineural hearing loss in OPA1-linked disorders.

artículo científico publicado en 2013

Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.

artículo científico publicado en 2017

The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress

artículo científico publicado en 2016

Validation of the first quality-of-life measurement for patients with Huntington's disease: the Huntington Quality of Life Instrument

artículo científico publicado en 2012

pH as a biomarker of neurodegeneration in Huntington's disease: a translational rodent-human MRS study.

artículo científico publicado en 2012

Lista de obras de

A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders.

Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease.

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases

Adult-onset cerebral X-linked adrenoleukodystrophy with major contrast-enhancement mimicking acquired disease.

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression

Clinical and genetic characteristics of late-onset Huntington's disease

Dissociation between decision-making under risk and decision-making under ambiguity in premanifest and manifest Huntington's disease

Effectiveness of anti-psychotics and related drugs in the Huntington French-speaking group cohort

Episodic memory decline in Huntington's disease, a binding deficit?

Estimation of the inbreeding coefficient through use of genomic data

Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity.

G51D α‐synuclein mutation causes a novel Parkinsonian–pyramidal syndrome ⬇️

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination

Hereditary optic neuropathies share a common mitochondrial coupling defect.

Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration.

Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.

In vivo evidence for the selective subcortical degeneration in Huntington's disease.

Language processing within the striatum: evidence from a PET correlation study in Huntington's disease

Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

OPA1-associated disorders: phenotypes and pathophysiology.

Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy

Sensorineural hearing loss in OPA1-linked disorders.

Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.

The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress

Validation of the first quality-of-life measurement for patients with Huntington's disease: the Huntington Quality of Life Instrument

pH as a biomarker of neurodegeneration in Huntington's disease: a translational rodent-human MRS study.