C. Verny

发表

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

L. Fasotti, P. Allain, M. El Haj, 2013, Journal of Huntington's disease.

Theory of mind and empathy in preclinical and clinical Huntington's disease.

N. El Massioui, P. Allain, J. Besnard, 2016, Social cognitive and affective neuroscience.

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

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2018, Investigative ophthalmology & visual science.

Hereditary optic neuropathies share a common mitochondrial coupling defect

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2008, Annals of neurology.

Sensorineural hearing loss in OPA1-linked disorders.

M. Larsen, D. Milea, E. Colin, 2013, Brain : a journal of neurology.

Improved Locus‐Specific Database for OPA1 Mutations Allows Inclusion of Advanced Clinical Data

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2015, Human mutation.

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

D. Milea, C. Bris, V. Desquiret-Dumas, 2016, Neurobiology of Disease.

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

D. Milea, C. Bris, V. Desquiret-Dumas, 2016, Brain : a journal of neurology.

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

D. Milea, V. Desquiret-Dumas, D. Bonneau, 2017, Investigative ophthalmology & visual science.

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

N. E. Massioui, P. Allain, J. Besnard, 2017, Neuropsychologia.

The neural substrates of script knowledge deficits as revealed by a PET study in Huntington's disease

L. Fasotti, P. Remy, A. Bachoud-Lévi, 2011, Neuropsychologia.

Estimation of the inbreeding coefficient through use of genomic data.

Bernard Prum, Arnaud Lemainque, Elizabeth A Thompson, 2003, American journal of human genetics.

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

P. Remy, J. Démonet, A. Bachoud-Lévi, 2008, Brain : a journal of neurology.

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

V. Desquiret-Dumas, D. Bonneau, P. Amati‐Bonneau, 2015, The international journal of biochemistry & cell biology.

Neocortical morphometry in Huntington's disease: Indication of the coexistence of abnormal neurodevelopmental and neurodegenerative processes

E. Duchesnay, G. Douaud, J. Mangin, 2020, NeuroImage: Clinical.

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness

Jing Wang, J. Puel, D. Bonneau, 2005, Annals of neurology.

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

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2010, neurogenetics.

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

G. Douaud, S. Jbabdi, Y. Cointepas, 2009, NeuroImage.

Mitochondrial coupling defect in Charcot–Marie–Tooth type 2A disease

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2007, Annals of neurology.

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.

Enrico Amico, Philippe Allain, Mark Mühlau, 2017, The Lancet. Neurology.

Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease

M. Ruberg, A. Brice, N. Birouk, 2007, NeuroMolecular Medicine.

Primary fibroblasts derived from sporadic amyotrophic lateral sclerosis patients do not show ALS cytological lesions

G. Lenaers, P. Reynier, V. Procaccio, 2018, Amyotrophic lateral sclerosis & frontotemporal degeneration.

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

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2011, Experimental Neurology.

A Plasma Metabolomic Signature of the Exfoliation Syndrome Involves Amino Acids, Acylcarnitines, and Polyamines.

D. Milea, P. Gohier, D. Bonneau, 2018, Investigative ophthalmology & visual science.

High insulinlike growth factor I is associated with cognitive decline in Huntington disease

A. Bachoud-Lévi, J. Azulay, J. Azulay, 2010, Neurology.

Isolated Horner’s Syndrome May Herald Stroke

E. Ringelstein, V. Larrue, M. Sturzenegger, 2005, Cerebrovascular Diseases.

Therapeutic plasma exchange in chronic dysimmune peripheral neuropathies: A 10‐year retrospective study

C. Verny, J. Subra, J. Cassereau, 2017, Journal of clinical apheresis.

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2009, neurogenetics.

STochastic Optical Reconstruction Microscopy (STORM) reveals the nanoscale organization of pathological aggregates in human brain

C. Duyckaerts, J. Julien, G. Lenaers, 2020, Neuropathology and applied neurobiology.

Refsum’s disease may mimic familial Guillain Barre syndrome

D. Bonneau, F. Dubas, C. Verny, 2006, Neuromuscular Disorders.

Neuropathies optiques d’origine mitochondriale

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2016 .

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

D. Hannequin, F. Etcharry-Bouyx, C. Marelli, 2018, American Journal of Neuroradiology.

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

P. Vermersch, M. Giroud, M. Clanet, 2015, Brain : a journal of neurology.

Middle Cerebral Artery Dissection Gives Rise to Giant Serpentine Aneurysm

F. Dubas, C. Verny, A. Pasco, 2008, Cerebrovascular Diseases.

Neurological Diseases Associated with Mutations in the Mitochondrial Fusion Machinery

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2011 .

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

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

MULTIPLE SCLEROSIS–LIKE DISORDER IN OPA1-RELATED AUTOSOMAL DOMINANT OPTIC ATROPHY

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2008, Neurology.

Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations

D. Bonneau, G. Lenaers, P. Reynier, 2016, Journal of the peripheral nervous system : JPNS.

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

A. Durr, P. Convers, M. Koenig, 2015, Annals of neurology.

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

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2010, Mitochondrion.

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

P. Calvas, D. Bonneau, P. Amati‐Bonneau, 2004, Journal of Medical Genetics.

Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis.

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2008, Diabetes & metabolism.

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

D. Milea, V. Desquiret-Dumas, D. Bonneau, 2011, BMC Research Notes.

Novel CCM2 missense variants abrogating the CCM1–CCM2 interaction cause cerebral cavernous malformations

A. Nouet, F. Viallet, D. Hervé, 2020, Journal of Medical Genetics.

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination

R. Schiffmann, O. Boespflug-Tanguy, F. Mochel, 2019, American Journal of Neuroradiology.

[Heart conduction disorders in long-term treatment with chloroquine. Two new cases].

G. Chomette, C. Verny, P. Godeau, 1992, Presse medicale.

Sensorineural hearing loss in OPA1-linked disorders.

M. Larsen, D. Milea, E. Colin, 2013, Brain : a journal of neurology.

[Hereditary optic neuropathies].

D. Milea, C. Verny, 2012, Revue neurologique.

A randomized, double‐blind, placebo‐controlled trial evaluating cysteamine in Huntington's disease

A. Durr, P. Krystkowiak, A. Bachoud-Lévi, 2017, Movement disorders : official journal of the Movement Disorder Society.

Apathy and Huntington's Disease: A Literature Review Based on PRISMA.

P. Allain, C. Verny, Jihene Matmati, 2021, The Journal of neuropsychiatry and clinical neurosciences.

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

Ronald Melki, Christophe Verny, A. Dürr, 2013, Annals of neurology.

Specific cognitive theory of mind and behavioral dysfunctions in early manifest Huntington disease: a case report

B. Desgranges, F. Eustache, P. Allain, 2019, Neurocase.

The most appropriate primary outcomes to design clinical trials on Huntington's disease: meta‐analyses of cohort studies and randomized placebo‐controlled trials

A. Bachoud-Lévi, C. Verny, C. Scherer, 2014, Fundamental & clinical pharmacology.

A Case of Type I Sialidosis With Osteonecrosis Revealing a New Mutation in NEU1

C. Verny, M. Barth, C. Lavigne, 2014 .

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.

L. Defebvre, J. Pariente, M. Vérin, 2013, Brain : a journal of neurology.

Mitochondrial dysfunction affecting visual pathways.

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2014, Revue neurologique.

OPA1-associated disorders: phenotypes and pathophysiology.

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2009, The international journal of biochemistry & cell biology.

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2009, Human mutation.

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

R. Schwarzenbacher, D. Figarella-Branger, C. La Morgia, 2008, Brain : a journal of neurology.

Phenotype associated with APP duplication in five families.

Florence Pasquier, Didier Hannequin, Thierry Frebourg, 2006, Brain : a journal of neurology.

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations

M. Ruberg, A. Brice, N. Birouk, 2006, Neurology.

Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders

M. Martin-Négrier, C. Bris, D. Goudenège, 2021, Genetics in Medicine.

Association Between Motor Symptoms and Brain Metabolism in Early Huntington Disease

P. Remy, P. Damier, P. Payoux, 2017, JAMA neurology.

Distribution of grey matter atrophy in Huntington’s disease patients: A combined ROI-based and voxel-based morphometric study

Anne-Catherine Bachoud-Lévi, Philippe Hantraye, Philippe Remy, 2006, NeuroImage.

How to Capitalize on the Retest Effect in Future Trials on Huntington’s Disease

J. Démonet, P. Krystkowiak, A. Bachoud-Lévi, 2015, PloS one.

Destination and source memory in Huntington's disease.

L. Fasotti, P. Allain, M. El Haj, 2016, Journal of neuropsychology.

Arrangement de scripts dans la maladie de Huntington

D. Gall, G. Aubin, D. Bonneau, 2004 .

[Spontaneous spinal cord herniation: a little-known cause of Brown-Sequard syndrome. Report of two cases and review of the literature].

C. Verny, P. Menei, P. Mercier, 1999, Neuro-Chirurgie.

Two clinicopathological cases of a dominantly inherited, adult onset orthochromatic leucodystrophy

F. Etcharry-Bouyx, F. Dubas, C. Verny, 2003, Journal of neurology, neurosurgery, and psychiatry.

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.

A. Mégarbané, A. Brice, D. Sherman, 2001, Human molecular genetics.

Maculopathy and Spinocerebellar Ataxia Type 1: A New Association?

P. Lebranchu, D. Milea, A. Magot, 2012, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

pH as a Biomarker of Neurodegeneration in Huntington's Disease: A Translational Rodent-Human MRS Study

P. Remy, P. Damier, J. Valette, 2012, Journal of Cerebral Blood Flow and Metabolism.

Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE.

N. Chassaing, D. Bonneau, O. Le Saux, 2008, Archives of dermatology.

Association between caffeine intake and age at onset in Huntington's disease

L. Defebvre, A. Destée, L. Buée, 2013, Neurobiology of Disease.

International Guidelines for the Treatment of Huntington's Disease

R. Reilmann, J. Burgunder, D. Craufurd, 2019, Front. Neurol..

Guidelines for clinical pharmacological practices in Huntington's disease.

A. Bachoud-Lévi, C. Verny, G. Désaméricq, 2016, Revue neurologique.

Insulin-Like Growth Factor-1 but Not Insulin Predicts Cognitive Decline in Huntington’s Disease

P. Krystkowiak, A. Bachoud-Lévi, J. Azulay, 2016, PloS one.

Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K

D. Bonneau, G. Lenaers, P. Reynier, 2020, Experimental Neurology.

Executive functions in clinical and preclinical Alzheimer's disease.

P. Allain, F. Etcharry-Bouyx, C. Verny, 2013, Revue neurologique.

The wide POLG-related spectrum: An integrated view

P. Amati‐Bonneau, A. Echaniz-Laguna, T. Kuntzer, 2016, Journal of the Neurological Sciences.

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

C. Verny, C. Scherer, P. Labauge, 2013, Clinical Neurology and Neurosurgery.

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2011, Mitochondrion.

Neurotoxicity of Insecticides.

G. Lenaers, P. Reynier, V. Procaccio, 2017, Current medicinal chemistry.

A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency.

D. Milea, P. Gohier, D. Bonneau, 2018, Investigative Ophthalmology and Visual Science.

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

M. Carbonelli, P. Gohier, P. Yu-Wai-Man, 2021, Brain communications.

“Ten euros now” temporal discounting in Huntington disease

P. Allain, M. El Haj, Marie Caillaud, 2023, Neurological Sciences.

Evidence for deficits on different components of theory of mind in Huntington's disease.

D. Le Gall, L. Fasotti, P. Allain, 2011, Neuropsychology.

Design and application of a customizable relational DataBase to assess clinicopathological correlations and concomitant pathology in neurodegenerative diseases

F. Etcharry-Bouyx, V. Chauviré, C. Verny, 2022, Brain pathology.

Coincidence of two genetic forms of Charcot–Marie–Tooth disease in a single family

E. Génin, A. Brice, S. Tardieu, 2004, Neurology.

Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification

F. Durif, D. Campion, D. Hannequin, 2014, neurogenetics.

Hereditary amyloid neuropathy by transthyretin Val107 mutation in a patient of African origin

F. Dubas, C. Verny, J. Cassereau, 2008, Journal of the peripheral nervous system : JPNS.

Longitudinal Study of Informed Consent in Innovative Therapy Research: Experience and Provisional Recommendations from a Multicenter Trial of Intracerebral Grafting

J. Démonet, P. Damier, P. Krystkowiak, 2015, PloS one.

Cyclosporine A does not prevent second-eye involvement in Leber’s hereditary optic neuropathy

C. Tilikete, C. Orssaud, D. Milea, 2018, Orphanet Journal of Rare Diseases.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

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

Timothy Edward John Behrens, Anne-Catherine Bachoud-Lévi, Yann Cointepas, 2009, NeuroImage.

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression

Emmanuel Dupoux, R. de Diego-Balaguer, A. Durr, 2016, PloS one.

A phase II, open‐label evaluation of cysteamine tolerability in patients with Huntington's disease

S. Humbert, D. Bonneau, C. Verny, 2015, Movement Disorders.

Safety and efficacy of pridopidine in patients with Huntington's disease (PRIDE-HD): a phase 2, randomised, placebo-controlled, multicentre, dose-ranging study

R. Reilmann, K. Marder, J. Corey-Bloom, 2019, The Lancet Neurology.

Theory of Mind Impairments Highlighted With an Ecological Performance-Based Test Indicate Behavioral Executive Deficits in Traumatic Brain Injury

P. Allain, J. Besnard, M. Dinomais, 2020, Frontiers in Neurology.

A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease

L. Defebvre, L. Buée, A. Dürr, 2009, Neurobiology of Disease.

[An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs].

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2005, Revue neurologique.

C08 Caffeine is a modifier of age at onset in Huntington's disease

L. Defebvre, L. Buée, P. Amouyel, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

Cognitive changes in asymptomatic carriers of the Huntington disease mutation gene

D. Le Gall, P. Allain, D. Bonneau, 2007, European journal of neurology.

Assessing the experience of the quality of care of patients living with multiple sclerosis and their caregivers: The MusiCare questionnaire

K. Baumstarck, A. Loundou, P. Auquier, 2020, European journal of neurology.

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression

Emmanuel Dupoux, R. de Diego-Balaguer, A. Durr, 2016, PloS one.

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K

D. Bonneau, P. Reynier, V. Procaccio, 2011, Orphanet journal of rare diseases.

[Processing of "scripts" and frontal lobe function in Huntington's disease].

D. Le Gall, P. Allain, G. Aubin, 2004, Revue neurologique.

Transactive response DNA-binding protein 43 is enriched at the centrosome in human cells

J. Julien, D. Bohl, S. Pozzi, 2023, Brain : a journal of neurology.

The burden of Huntington's disease: A prospective longitudinal study of patient/caregiver pairs.

Henri Vandendriessche, A. Bachoud-Lévi, E. Audureau, 2022, Parkinsonism & related disorders.

Theory of mind and empathy in preclinical and clinical Huntington's disease.

N. El Massioui, P. Allain, J. Besnard, 2016, Social cognitive and affective neuroscience.

A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency.

D. Milea, P. Gohier, D. Bonneau, 2018, Investigative ophthalmology & visual science.

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

P. Calvas, D. Bonneau, P. Amati‐Bonneau, 2004, Journal of Medical Genetics.

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

D. Milea, V. Desquiret-Dumas, D. Bonneau, 2017, Investigative ophthalmology & visual science.

Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial

M. Chupin, A. Durr, A. Brice, 2022, The Lancet Neurology.

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

A. Durr, P. Convers, M. Koenig, 2015, Annals of neurology.

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

P. Auquier, F. Squitieri, E. Clay, 2012, International clinical psychopharmacology.

[Hereditary optic neuropathies].

C. Verny, Dan Milea, 2012, Revue neurologique (Paris).

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K

D. Bonneau, P. Reynier, V. Procaccio, 2011, Orphanet journal of rare diseases.

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

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2010, Mitochondrion.

Letter to the editor on: prophylactic nicotinamide treatment protects from rotenone-induced neurodegeneration by increasing mitochondrial content and volume

P. Gohier, P. Reynier, C. Verny, 2024, Acta neuropathologica communications.

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

L. Fasotti, P. Allain, Marie Caillaud, 2013, Journal of Huntington's disease.

pH as a Biomarker of Neurodegeneration in Huntington's Disease: A Translational Rodent-Human MRS Study

P. Remy, P. Damier, J. Valette, 2012, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis.

P. Amati‐Bonneau, C. Verny, C. Maréchal, 2008, Diabetes & metabolism.