P. Charles

发表

Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study

D. Timmann, M. Dafotakis, A. Durr, 2016, The Lancet Neurology.

Early Energy Deficit in Huntington Disease: Identification of a Plasma Biomarker Traceable during Disease Progression

Alexandra Durr, Fanny Mochel, Anne Vassault, 2007, PloS one.

FXTAS

M. Vidailhet, P. Pollak, B. Gaymard, 2012, Neurology.

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

S. Tezenas du Montcel, C. Duyckaerts, A. Durr, 2019, Neurology.

Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias

D. Timmann, A. Durr, P. Bauer, 2018, Journal of Neurology.

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1

Hans H. Jung, C. Tilikete, M. Koenig, 2018, JAMA neurology.

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6

D. Timmann, S. Tezenas du Montcel, A. Durr, 2014, Journal of Medical Genetics.

Is non-recognition of choreic movements in Huntington disease always pathological?

J. Daunizeau, L. Naccache, A. Durr, 2013, Neuropsychologia.

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

D. Hernandez, A. Singleton, A. Durr, 2017, Neurodegenerative Diseases.

L. Vercueil, A. Afenjar, S. Auvin, 2013, Orphanet Journal of Rare Diseases.

Mini‐Exome Coupled to Read‐Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias

M. Koenig, P. Calvas, C. Geny, 2016, Human mutation.

C. Depienne, D. Lacombe, C. Chiron, 2011, Epilepsia.

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

N. Drouot, A. Durr, M. Koenig, 2016, Journal of Neurology.

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

V. Fraix, L. Kremer, M. Koenig, 2021, Genetics in Medicine.

Rapid exhaustion of auditory neural conduction in a prototypical mitochondrial disease, Friedreich ataxia

P. Deltenre, P. Avan, A. Dürr, 2018, Clinical Neurophysiology.

Survival and severity in dominant cerebellar ataxias

S. Tezenas du Montcel, A. Durr, S. Forlani, 2015, Annals of clinical and translational neurology.

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

D. Timmann, S. Tezenas du Montcel, A. Durr, 2017, Movement disorders clinical practice.

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

M. Ruberg, A. Durr, N. Elleuch, 2007, Nature Genetics.

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

A. Ferbert, A. Durr, S. Forlani, 2013, American journal of human genetics.

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

Z. Tümer, K. Bhatia, H. Lerche, 2022, Clinical genetics.

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

A. Destée, S. Klebe, A. Durr, 2012, Brain : a journal of neurology.

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

R. Redon, J. Rosenfeld, D. Grozeva, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

R. Weksberg, N. Drouot, Y. Hérault, 2021, Genetics in Medicine.

The cerebral network of COVID-19-related encephalopathy: a longitudinal voxel-based 18F-FDG-PET study

K. Hoang-Xuan, S. Lehéricy, F. Chochon, 2021, European Journal of Nuclear Medicine and Molecular Imaging.

Deciphering the natural history of SCA7 in children

A. Durr, D. Devos, C. Cazeneuve, 2020, European journal of neurology.

Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

A. Afenjar, N. Philip, S. Aftimos, 2012, Human mutation.

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

Jacob O Day, R. Maroofian, H. Houlden, 2022, Brain : a journal of 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.

Mitochondrial dysfunction caused by novel ATAD3A mutations.

T. Wai, A. Gelot, N. Dorison, 2020, Molecular genetics and metabolism.

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination

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

OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants

A. Afenjar, A. Boland, J. Deleuze, 2022, Frontiers in Cell and Developmental Biology.

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

I. Scheffer, H. Peeters, H. Mefford, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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.

Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

S. Klebe, C. van Broeckhoven, A. Durr, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA

C. Depienne, O. Trouillard, D. Heron, 2011, American journal of medical genetics. Part A.

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.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

L. Lagae, P. Striano, T. Loddenkemper, 2017, Brain : a journal of neurology.

Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials

Sébastien Jacquemont, S. Jacquemont, R. Hagerman, 2016, Science Translational Medicine.

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.

D. Horn, X. Wang, C. Saunders, 2019, American journal of human genetics.

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

Carol J. Saunders, C. Saunders, I. Thiffault, 2019, bioRxiv.

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

D. MacArthur, W. Chung, J. Lupski, 2021, Genetics in Medicine.

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

L. Richards, A. Barkovich, A. Afenjar, 2018, Neuron.

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho‐functional dysfunction

A. Durr, D. Hannequin, S. Forlani, 2011, Human mutation.

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

C. Depienne, A. Afenjar, D. Cohen, 2018, Clinical genetics.

Using medical exome sequencing to identify the causes of neurodevelopmental disorders : experience of two clinical units and 216 patients Running title : Medical exome and NDD

C. Depienne, A. Afenjar, D. Cohen, 2017 .

[Diagnostic investigations for an unexplained developmental disability].

A. Afenjar, A. Verloes, C. Baumann, 2012, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

A. Fry, T. Rinne, M. Parker, 2020, Human mutation.

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

A. Singleton, M. Vidailhet, A. Durr, 2018, JAMA neurology.

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.

K. Dujardin, A. Destée, L. Buée, 2014, Brain : a journal of neurology.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

J. Graham, K. Bowling, A. Afenjar, 2019, Genetics in Medicine.

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

A. Durr, D. Hannequin, A. Brice, 2017, Brain : a journal of neurology.

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability

L. Gallagher, E. Haffen, C. Depienne, 2012, Journal of Medical Genetics.

Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.

D. Grabli, A. Durr, A. Brice, 2016, JAMA neurology.

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Eric W. Klee, Ange-Line Bruel, Sophie Nambot, 2019, Genetics in Medicine.

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data

Paola Giunti, Javier Arpa, Alexandra Durr, 2015, The Lancet Neurology.

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

Golder N Wilson, I. Simonic, Soo-Mi Park, 2017, Journal of Medical Genetics.

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex

S. Tezenas du Montcel, C. Duyckaerts, A. Durr, 2018, Brain : a journal of neurology.

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features

L. Faivre, C. Philippe, C. Thauvin-Robinet, 2018, Clinical genetics.

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

A. Durr, C. Depienne, A. Brice, 2015, Brain : a journal of neurology.

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

Paola Giunti, Alexandra Durr, Robyn Labrum, 2015, The Lancet Neurology.

FXTAS

M. Vidailhet, P. Pollak, B. Gaymard, 2012, Neurology.

Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study

D. Timmann, A. Durr, P. Bauer, 2018, The Lancet Neurology.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

R. Pfundt, D. Smedley, S. Robertson, 2021, American Journal of Human Genetics.

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene

M. Vidailhet, A. Durr, M. Polak, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

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

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

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2

A. Lang, N. Williams, A. Plate, 2018, Neurology.

Guidelines for clinical pharmacological practices in Huntington's disease.

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

Nocturnal agitation in Huntington disease is caused by arousal-related abnormal movements rather than by rapid eye movement sleep behavior disorder.

A. Durr, I. Arnulf, E. Roze, 2015, Sleep medicine.

Motor neuron pathology in CANVAS due to RFC1 expansions.

B. Gaymard, D. Grabli, A. Durr, 2021, Brain : a journal of neurology.

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

L. Vissers, I. Krantz, R. Bodmer, 2020, American journal of human genetics.

Low cancer prevalence in polyglutamine expansion diseases

S. Tezenas du Montcel, A. Durr, A. Brice, 2017, Neurology.

Parkinson's disease associated with 22q11.2 deletion: Clinical characteristics and response to treatment.

D. Grabli, A. Eusebio, N. Philip, 2017, Revue neurologique.

ORF 72 repeat expansions are a rare genetic cause of parkinsonism Running head : C 9 ORF 72 repeat expansion in parkinsonism

A. Destée, M. Vidailhet, P. Pollak, 2018 .

A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia.

S. Tezenas du Montcel, A. Durr, M. Komajda, 2015, JAMA neurology.

Haploinsufficiency of Dmxl2, Encoding a Synaptic Protein, Causes Infertility Associated with a Loss of GnRH Neurons in Mouse

E. Génin, J. Dupont, Z. Csaba, 2014, PLoS biology.

Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study

B. Klink, C. Bénéteau, J. Thevenon, 2022, Clinical genetics.

Self‐rated health status in spinocerebellar ataxia—Results from a European multicenter study

Paola Giunti, Dagmar Timmann, Sylvia Boesch, 2010, Movement disorders : official journal of the Movement Disorder Society.

Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations

Y. Agid, P. Pollak, Y. Worbe, 2007, Movement disorders : official journal of the Movement Disorder Society.

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

A. Brice, V. Drouin‐Garraud, C. Thauvin, 2014, Orphanet Journal of Rare Diseases.

“Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia

N. Bresolin, J. Masdeu, M. Riverol, 2019, American Journal of Neuroradiology.

Individual perception of environmental factors that influence lower limbs spasticity in inherited spastic paraparesis.

S. Tezenas du Montcel, A. Durr, C. Depienne, 2023, Annals of physical and rehabilitation medicine.

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Q. Waisfisz, S. Julia, D. Wieczorek, 2023, European Journal of Human Genetics.

Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias

A. Durr, D. Hannequin, P. Ribai, 2011, Movement disorders : official journal of the Movement Disorder Society.

Depression comorbidity in spinocerebellar ataxia

D. Timmann, S. Tezenas du Montcel, L. Schöls, 2011, Movement disorders : official journal of the Movement Disorder Society.

Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up.

S. Rivaud-Pechoux, M. Koenig, A. Dürr, 2007, Archives of neurology.

Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data

Alexandra Durr, Marcella Masciullo, Dagmar Timmann, 2013, The Lancet Neurology.

Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia.

Alexandra Durr, Cécile Cazeneuve, David Devos, 2012, Archives of neurology.

Annual change in Friedreich's ataxia evaluated by the Scale for the Assessment and Rating of Ataxia (SARA) is independent of disease severity

A. Dürr, A. Brice, J. Golmard, 2012, Movement disorders : official journal of the Movement Disorder Society.

Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment.

M. Ruberg, A. Durr, D. Hannequin, 2008, Brain : a journal of neurology.

Prediction of Survival With Long‐Term Disease Progression in Most Common Spinocerebellar Ataxia

D. Timmann, S. Tezenas du Montcel, A. Durr, 2019, Movement Disorders.

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.

Delayed‐onset Friedreich's ataxia revisited

M. Koenig, W. Meissner, A. Eusebio, 2016, Movement disorders : official journal of the Movement Disorder Society.

MR spectroscopic pulvinar sign in a case of variant Creutzfeldt-Jakob disease.

J. Hauw, D. Galanaud, D. Grabli, 2002, Journal of neuroradiology. Journal de neuroradiologie.

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression

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

Parkinson ’ s disease associated with 22 q 11 . 2 deletion : Clinical characteristics and response to treatment

A. Eusebio, N. Philip, S. Drapier, 2017 .

Falls in Spinocerebellar Ataxias: Results of the EuroSCA Fall Study

Paola Giunti, Bastiaan R. Bloem, Massimo Pandolfo, 2010, The Cerebellum.

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.

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.

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

N. Drouot, A. Durr, M. Koenig, 2013, Orphanet Journal of Rare Diseases.

Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes

S. Klebe, A. Durr, A. Brice, 2023, Journal of Medical Genetics.

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.

D. Timmann, A. Durr, L. Schöls, 2023, American journal of human genetics.

Multifactorial hypercoagulable state associated with a thrombotic phenotype in phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG): Case report and brief review of the literature.

L. Drouet, V. Siguret, P. Charles, 2019, Thrombosis research.

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression

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

Huntington's Disease with Small CAG Repeat Expansions

J. Pariente, A. Durr, M. Teichmann, 2023, Movement disorders : official journal of the Movement Disorder Society.

Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?

A. Destée, A. Bonnet, A. Durr, 2007, Neurology.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN 2 A-related disorders

L. Lagae, P. Striano, T. Loddenkemper, 2017 .

Clinically meaningful MR endpoints sensitive to preataxic SCA1 and SCA3

K. Bushara, C. Lenglet, J. Schmahmann, 2022, Annals of Neurology.

Characterizing cardiac phenotype in Friedreich's ataxia: The CARFA study.

A. Durr, J. Weinsaft, P. Charles, 2021, Archives of cardiovascular diseases.

Rapid exhaustion of auditory neural conduction in a prototypical mitochondrial disease, Friedreich ataxia

P. Deltenre, P. Avan, A. Dürr, 2018, Clinical Neurophysiology.

Predictors of Left Ventricular Dysfunction in Friedreich’s Ataxia in a 16-Year Observational Study

E. Vicaut, A. Durr, G. Montalescot, 2019, American Journal of Cardiovascular Drugs.

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

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

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

C. Depienne, O. Guillin, A. Afenjar, 2023, European journal of human genetics : EJHG.

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

D. Timmann, A. Durr, P. Bauer, 2015, The Lancet Neurology.

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

A. Destée, S. Klebe, A. Durr, 2012, Brain : a journal of neurology.

Growth charts in DYRK1A syndrome

A. Afenjar, A. Bayat, L. Pasquier, 2023, American journal of medical genetics. Part A.