N. Lebrun

发表

Adherence to multidomain interventions for dementia prevention: Data from the FINGER and MAPT trials

Michèle Allard, Olivier Rouaud, Carole Dufouil, 2019, Alzheimer's & Dementia.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Renzo Guerrini, Patrick Nitschke, Elena Fontana, 2013, Nature Genetics.

Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.

C. Fallet-Bianco, N. Boddaert, N. Lebrun, 2010, Human molecular genetics.

RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann–Steiner Syndrome

A. Afenjar, P. Billuart, N. Lebrun, 2018, NeuroMolecular Medicine.

Mutations in the HECT domain of NEDD4L lead to AKT/mTOR pathway deregulation and cause periventricular nodular heterotopia

A. Pagnamenta, N. Drouot, I. Sumara, 2016, Nature Genetics.

Healthcare Costs Associated with Potentially Inappropriate Medication Prescribing Detected by Computer Algorithm Among Older Patients

S. Lehéricy, M. Chupin, J. Mangin, 2022, Drugs & Aging.

Exome sequencing in a familial form of anorexia nervosa supports multigenic etiology

P. Gorwood, N. Ramoz, N. Lebrun, 2019, Journal of Neural Transmission.

De novo deleterious variants that may alter the dopaminergic reward pathway are associated with anorexia nervosa

P. Gorwood, N. Ramoz, N. Lebrun, 2019, Eating and Weight Disorders - Studies on Anorexia, Bulimia and Obesity.

Anorexia nervosa is associated with Neuronatin variants.

P. Gorwood, N. Ramoz, N. Lebrun, 2019, Psychiatric genetics.

HDAC inhibitor ameliorates behavioral deficits in Mecp2 308/y mouse model of Rett syndrome

Y. Hérault, H. Meziane, N. Lebrun, 2021, Brain Research.

Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant

P. Billuart, N. Lebrun, T. Bienvenu, 2017, Clinical genetics.

Hippocampal Excitatory Synaptic Transmission and Plasticity Are Differentially Altered during Postnatal Development by Loss of the X-Linked Intellectual Disability Protein Oligophrenin-1

N. Rouach, P. Billuart, N. Lebrun, 2022, Cells.

Early‐onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A

P. Billuart, N. Lebrun, P. Jeannet, 2015, American journal of medical genetics. Part A.

Are Extensive T Cell Epitope Polymorphisms in the Plasmodium falciparum Circumsporozoite Antigen, a Leading Sporozoite Vaccine Candidate, Selected by Immune Pressure?1

L. Rénia, F. Nosten, N. Lebrun, 2005, The Journal of Immunology.

Ghrelin Gene Deletion Alters Pulsatile Growth Hormone Secretion in Adult Female Mice

N. Lebrun, F. Roelfsema, C. Tomasetto, 2021, Frontiers in Endocrinology.

Effect of long-term omega 3 polyunsaturated fatty acid supplementation with or without multidomain intervention on cognitive function in elderly adults with memory complaints (MAPT): a randomised, placebo-controlled trial

S. Lehéricy, M. Chupin, P. Robert, 2017, The Lancet Neurology.

MeCP2 is involved in random mono-allelic expression for a subset of human autosomal genes.

N. Lebrun, J. Nectoux, T. Bienvenu, 2020, Biochimica et biophysica acta. Molecular basis of disease.

Identification of rare variants in CADM1 in patients with anorexia nervosa

P. Gorwood, N. Ramoz, N. Lebrun, 2020, Psychiatry Research.

Genomic Analyses Identify Rare Variants in Genes Associated with Age at Menarche in Patients Affected with Anorexia Nervosa and Support a Role for Puberty Timing in Anorexia Nervosa Risk

P. Gorwood, N. Ramoz, N. Lebrun, 2020 .

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis

E. Bertini, L. Montecchi-Palazzi, V. Kalscheuer, 2012, Proceedings of the National Academy of Sciences.

Comprehensive Linkage and Association Analyses Identify Haplotype, Near to the TNFSF15 Gene, Significantly Associated with Spondyloarthritis

S. Heath, D. Zélénika, C. Charon, 2009, PLoS genetics.

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders

M. Ruberg, V. Guillemot, C. Depienne, 2015, Amino Acids.

Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences.

P. Billuart, D. Lacombe, N. Lebrun, 2018, Gene.

S. Auvin, L. Pasquier, C. Philippe, 2014, Journal of Medical Genetics.

Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.

J. Gécz, Y. Humeau, P. Billuart, 2015, Human molecular genetics.

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

J. Rosenfeld, M. Shaw, E. Haan, 2013, American journal of human genetics.

Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome

A. Afenjar, P. Billuart, A. Briand-Suleau, 2017, European Journal of Human Genetics.

Altered DNA methylation associated with nervosa anorexia in males

P. Gorwood, N. Ramoz, Artem Kim, 2019, Integrative Molecular Medicine.

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

D. Zélénika, P. Nitschké, D. Lacombe, 2013, Nature Genetics.

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

N. Boddaert, C. Elie, N. Lebrun, 2014, Brain : a journal of neurology.

Variants in CUL4B are Associated with Cerebral Malformations

A. V. Vulto-van Silfhout, L. Vissers, S. Haas, 2015, Human mutation.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

C. Fallet-Bianco, F. Artiguenave, F. Rivier, 2015, European Journal of Human Genetics.

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria

P. Sonigo, A. Benachi, N. Lebrun, 2013, neurogenetics.

Biomarkers of mitochondrial dysfunction and inflammaging in older adults and blood pressure variability

S. Lehéricy, M. Chupin, J. Dartigues, 2022, GeroScience.

Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development

N. Drouot, L. Nguyen, N. Lebrun, 2017, Human molecular genetics.

Investigating the combination of plasma amyloid-beta and geroscience biomarkers on the incidence of clinically meaningful cognitive decline in older adults

S. Lehéricy, M. Chupin, J. Dartigues, 2022, GeroScience.

Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown.

N. Lebrun, J. Chelly, Loïc Broix, 2014, Human molecular genetics.

Biological and Neuroimaging Markers as Predictors of 5-year Incident Frailty in Older Adults: a Secondary Analysis of the MAPT study.

S. Lehéricy, M. Chupin, P. Robert, 2020, The journals of gerontology. Series A, Biological sciences and medical sciences.

Red blood cell membrane omega-3 fatty acid levels and physical performance: Cross-sectional data from the MAPT study.

S. Lehéricy, M. Chupin, J. Dartigues, 2017, Clinical nutrition.

RETRACTED ARTICLE: Omega-3 fatty acid levels in red blood cell membranes and physical decline over 3 years: longitudinal data from the MAPT study

S. Lehéricy, M. Chupin, J. Dartigues, 2017, GeroScience.

Association between the IL-1 family gene cluster and spondyloarthritis

N. Lebrun, M. Breban, F. Letourneur, 2012, Annals of the rheumatic diseases.

Association between physical activity, growth differentiation factor 15 and bodyweight in older adults: A longitudinal mediation analysis

S. Lehéricy, M. Chupin, J. Dartigues, 2023, Journal of cachexia, sarcopenia and muscle.

[Dysphagia in the elderly: which drugs are crushable?].

N. Lebrun, Nadège Barro-Belaygues, J. Vallat, 2010, Soins. Gerontologie.

Expanding the clinical phenotype of patients with a ZDHHC9 mutation

J. Thevenon, V. Kalscheuer, L. Faivre, 2014, American Journal of Medical Genetics. Part A.

Lack of association between Tenascin-C gene and spondyloarthritis.

N. Lebrun, M. Breban, F. Letourneur, 2008, Rheumatology.

A survey of the Th2R and Th3R allelic variants in the circumsporozoite protein gene of P. falciparum parasites from western Thailand.

L. Rénia, F. Nosten, N. Lebrun, 2004, The Southeast Asian journal of tropical medicine and public health.

Immune Pressure? Sporozoite Vaccine Candidate, Selected by Circumsporozoite Antigen, a Leading Plasmodium falciparum in the Are Extensive T Cell Epitope Polymorphisms

L. Rénia, N. Lebrun, N. White, 2005 .

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

D. Zélénika, P. Nitschké, D. Lacombe, 2013, Nature Genetics.

Cross-sectional associations of plasma vitamin D with cerebral β-amyloid in older adults at risk of dementia

S. Lehéricy, M. Chupin, J. Dartigues, 2018, Alzheimer's Research & Therapy.

The primary structure of the circumsporozoite protein of Plasmodium atheruri, a malaria parasite of the African porcupine Atherurus africanus.

L. Rénia, N. Lebrun, G. Snounou, 2001, Molecular and biochemical parasitology.

Bidirectional relationship between depressive symptoms and physical performance in community-dwelling older people with subjective memory complaints

F. Chollet, S. Lehéricy, M. Chupin, 2021, European Geriatric Medicine.

Cross-sectional associations of plasma vitamin D with cerebral β-amyloid in older adults at risk of dementia

S. Lehéricy, M. Chupin, J. Dartigues, 2018, Alzheimer's Research & Therapy.

RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann–Steiner Syndrome

A. Afenjar, P. Billuart, N. Lebrun, 2018, NeuroMolecular Medicine.

Plasma Aβ and neurofilament light chain are associated with cognitive and physical function decline in non-dementia older adults

S. Lehéricy, M. Chupin, J. Dartigues, 2020, Alzheimer's Research & Therapy.

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

C. Fallet-Bianco, F. Artiguenave, F. Rivier, 2015, European Journal of Human Genetics.

corr igenda Corrigendum : Mutations in TUBG 1 , DYNC 1 H 1 , KIF 5 C and KIF 2 A cause malformations of cortical development and microcephaly

D. Zélénika, P. Nitschké, D. Lacombe, 2013 .

Effect of Growth Hormone Secretagogue Receptor Deletion on Growth, Pulsatile Growth Hormone Secretion, and Meal Pattern in Male and Female Mice

N. Lebrun, M. Bohlooly-y, J. Veldhuis, 2021, Neuroendocrinology.

Adherence to multidomain interventions for dementia prevention: Data from the FINGER and MAPT trials

S. Lehéricy, M. Chupin, H. Soininen, 2019, Alzheimer's & Dementia.

Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis

Y. Humeau, P. Billuart, R. Kooy, 2015 .