A. Nicole

发表

Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy

G. Cheron, M. Swanson, A. Leroy, 2017, Cell reports.

Disease neuropathogenesis beyond missplicing

L. Buée, N. Sergeant, O. Hernández-Hernández, 2013 .

Synaptic protein dysregulation in myotonic dystrophy type 1

A. Munnich, L. Buée, N. Sergeant, 2013, Rare diseases.

Mitochondrial impairment as an early event in the process of apoptosis induced by glutathione depletion in neuronal cells: relevance to Parkinson's disease.

I. Ceballos-Picot, M. Merad-Boudia, A. Nicole, 1998, Biochemical pharmacology.

P. Sinet, I. Ceballos-Picot, J. Bourre, 1992, Mutation research.

The amyloid peptide induces early genotoxic damage in human preneuron NT2.

A. Sarasin, I. Ceballos-Picot, A. Nicole, 2001, Mutation research.

Transgenic murine cortical neurons expressing human Bcl-2 exhibit increased resistance to amyloid β-peptide neurotoxicity

P. Marin, J. Martinou, I. Ceballos-Picot, 1999, Neuroscience.

Identification of β-Amyloid-Responsive Genes by RNA Differential Display: Early Induction of a DNA Damage-Inducible Gene, gadd45

Y. Christen, P. Sinet, P. Gosset, 1999, Experimental Neurology.

Recruitment of Several Neuroprotective Pathways after Permanent Focal Ischemia in Mice

B. Sola, C. Guégan, I. Ceballos-Picot, 1998, Experimental Neurology.

Preferential expression of superoxide dismutase messenger RNA in melanized neurons in human mesencephalon

E. Hirsch, Y. Agid, P. Damier, 1993, Neuroscience.

Direct evidence for glutathione as mediator of apoptosis in neuronal cells.

I. Ceballos-Picot, A. Nicole, D. Santiard-Baron, 1998, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.

Selective modulation of brain antioxidant defense capacity by genetic or metabolic manipulations

P. Briand, B. Aral, P. Sinet, 1994 .

Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.

V. Meininger, G. Rouleau, A. Pramatarova, 1995, American journal of human genetics.

Neuronal-specific expression of human copper-zinc superoxide dismutase gene in transgenic mice: animal model of gene dosage effects in Down's syndrome

A. Delacourte, G. Grimber, P. Briand, 1991, Brain Research.

CTG Trinucleotide Repeat “Big Jumps”: Large Expansions, Small Mice

A. Munnich, C. Junien, M. Gomes-Pereira, 2007, PLoS genetics.

Preferential localization of copper zinc superoxide dismutase in the vulnerable cortical neurons in Alzheimer's disease

A. Delacourte, P. Sinet, A. Nicole, 1988, Neuroscience Letters.

Expression of transfected human CuZn superoxide dismutase gene in mouse L cells and NS20Y neuroblastoma cells induces enhancement of glutathione peroxidase activity.

J. Delabar, R. Lynch, P. Kamoun, 1988, Biochimica et biophysica acta.

Antioxidant enzymatic defence systems in sheep corpus luteum throughout pregnancy.

K. H. Al-Gubory, G. Germain, I. Ceballos-Picot, 2004, Reproduction.

Down syndrome with duplication of a region of chromosome 21 containing the CuZn superoxide dismutase gene without detectable karyotypic abnormality

A. Aurias, J. Delabar, J. Huret, 1987, Human Genetics.

Increased SOD1 enzymatic activity and gene modifications in orangutans: evolutionary implications

P. Sinet, C. Cochet, A. Nicole, 1991, Human Genetics.

Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome)

J. Delabar, P. Sinet, D. Stéhelin, 1987, Human Genetics.

De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome.

O. Dulac, G. Ponsot, P. Sinet, 1992, Journal of medical genetics.

Lowered level of translatable messenger RNAs for manganese superoxide dismutase in human fibroblasts transformed by SV 40.

P. Sinet, A. Nicole, F. Marlhens, 1985, Biochemical and biophysical research communications.

The Ginkgo biloba extract EGb 761 increases viability of hnt human neurons in culture and affectsthe expression of genes implicated in the stress response.

Y. Christen, I. Ceballos-Picot, A. Nicole, 2002, Cellular and molecular biology.

Low Plasma Selenium in Down's Syndrome (Trisomy 21)

P. Sinet, J. Néve, L. Molle, 1984, Acta paediatrica Scandinavica.

Expression of human Cu-Zn superoxide dismutase gene in transgenic mice: model for gene dosage effect in Down syndrome.

A. Delacourte, G. Grimber, P. Briand, 1991, Free Radical Research Communications.

Reconsideration of the proposed luteotropic and luteoprotective actions of ovine placental lactogen in sheep: in vivo and in vitro studies.

K. H. Al-Gubory, G. Germain, S. Camous, 2006, The Journal of endocrinology.

Ponsot Clinical features of the patient Performance Short stature Hypotrophy Limb hypotonia Axial hypertonia Craniofacial Dolichocephaly Prominent occiput Facial asymmetry Full cheeks High and broad forehead Temporal depression Malar flattening Retrognathia Short neck Eyes Hypertelorism Downward sla

G. Ponsot, P. Sinet, J. Pinard, 2022 .

P. Sinet, I. Ceballos-Picot, M. Thévenin, 1992, Clinical chemistry.

Selenium and Oxygen‐Metabolizing Enzymes in Elderly Community Residents: A Pilot Epidemiological Study

J. Dartigues, A. Alpérovitch, C. Berr, 1993, Journal of the American Geriatrics Society.

Selenium, zinc and copper in Down's syndrome (trisomy 21): blood levels and relations with glutathione peroxidase and superoxide dismutase.

P. Sinet, J. Néve, L. Molle, 1983, Clinica chimica acta; international journal of clinical chemistry.

Developmental methylation program and concerted expression of Stx11 in mouse tissues

G. Marcelin, J. Robert, A. Nicole, 2009, Mammalian Genome.

Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy

D. Dembélé, D. Auboeuf, D. Furling, 2011, Nature Structural &Molecular Biology.

Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome.

A. Aurias, J. Delabar, Z. Rahmani, 1989, Proceedings of the National Academy of Sciences of the United States of America.

Overproduction of Cu/Zn-Superoxide Dismutase or Bcl-2 Prevents the Brain Mitochondrial Respiratory Dysfunction Induced by Glutathione Depletion

Annie Nicole, J. Martinou, E. Boitier, 1999, Experimental Neurology.

Transcriptionally Repressive Chromatin Remodelling and CpG Methylation in the Presence of Expanded CTG-Repeats at the DM1 Locus

A. Munnich, A. Huguet, G. Gourdon, 2013, Journal of nucleic acids.

Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region

C. Bellanné-Chantelot, G. Marcelin, J. Robert, 2006, Journal of Medical Genetics.

Beta amyloid gene duplication in Alzheimer's disease and karyotypically normal Down syndrome

J. Delabar, D. Goldgaber, Y. Lamour, 1987, Science.

Rearrangement of chromosome 21 in Alzheimer's disease.

P. Amouyel, J. Delabar, Y. Lamour, 1986, Annales de genetique.

Changes in activities of superoxide dismutase, nitric oxide synthase, glutathione-dependent enzymes and the incidence of apoptosis in sheep corpus luteum during the estrous cycle.

K. H. Al-Gubory, G. Germain, F. Blachier, 2005, Biochimica et biophysica acta.

Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour.

F. Metzger, A. Munnich, L. Buée, 2013, Brain : a journal of neurology.

Molecular, Physiological, and Motor Performance Defects in DMSXL Mice Carrying >1,000 CTG Repeats from the Human DM1 Locus

F. Metzger, A. Munnich, A. Hoeflich, 2012, PLoS genetics.

Cellular clones and transgenic mice overexpressing copper-zinc superoxide dismutase: models for the study of free radical metabolism and aging.

P. Sinet, I. Ceballos-Picot, A. Nicole, 1992, EXS.

Down syndrome: a model for the study of Alzheimer’s disease and aging

J. Delabar, Z. Rahmani, Z. Chettouh, 1990 .

Down Syndrome Critical Region Around D 21 S 55 On Proximal 21 q 22 . 3

A. Aurias, J. Delabar, Z. Rahmani, 2005 .

Down syndrome critical region around D21S55 on proximal 21q22.3.

A. Aurias, Z. Rahmani, Z. Chettouh, 2005, American journal of medical genetics. Supplement.

Slot blot method for the quantification of DNA sequences and mapping of chromosome rearrangements: application to chromosome 21.

J. Fermanian, Z. Rahmani, Z. Chettouh, 1990, American journal of human genetics.

Molecular Analysis of Wilson Disease Gene in French Patients

F. Woimant, P. Chappuis, B. Aral, 2002 .

Absence of Modifications of the Enzyme Defense System against Oxygen Toxicity in Cystic Fibrosis

G. Lenoir, P. Sinet, A. Nicole, 1983, Pediatric Research.

Examination of stress-related genes in human temporal versus occipital cortex in the course of neurodegeneration: involvement of 14-3-3 zeta in this dynamic process

A. Delacourte, I. Ceballos-Picot, A. Nicole, 2004, Neuroscience Letters.

Reduction of Ischemic Damage in NGF-Transgenic Mice: Correlation with Enhancement of Antioxidant Enzyme Activities

B. Sola, C. Guégan, I. Ceballos-Picot, 1999, Neurobiology of Disease.

Molecular Analysis of Patients with Alzheimer's Disease

J. Delabar, Y. Lamour, Z. Rahmani, 1988 .

Parkinson's disease and Alzheimer's disease: neurodegenerative disorders due to brain antioxidant system deficiency?

A. Delacourte, F. Javoy‐Agid, P. Sinet, 1990, Advances in experimental medicine and biology.

Cloning and sequencing of a rat CuZn superoxide dismutase cDNA. Correlation between CuZn superoxide dismutase mRNA level and enzyme activity in rat and mouse tissues.

F. Galibert, J. Delabar, P. Sinet, 1987, European journal of biochemistry.

Hippocampal mossy fiber changes in mice transgenic for the human copper-zinc superoxide dismutase gene

P. Sinet, R. Moutier, A. Nicole, 1993, Neuroscience Letters.

Peripheral antioxidant enzyme activities and selenium in elderly subjects and in dementia of Alzheimer's type--place of the extracellular glutathione peroxidase.

C. Berr, I. Ceballos-Picot, M. Merad-Boudia, 1996, Free radical biology & medicine.

Neuronal localization of copper-zinc superoxide dismutase protein and mRNA within the human hippocampus from control and Alzheimer's disease brains.

Y. Agid, A. Delacourte, F. Javoy‐Agid, 1991, Free radical research communications.

Non-Radioactive Detection of Trinucleotide Repeat Size Variability

M. Gomes-Pereira, G. Gourdon, S. Tomé, 2014, PLoS currents.

Non-Radioactive Detection of Trinucleotide Repeat Size

M. Gomes-Pereira, G. Gourdon, S. Tomé, 2014 .

Transgenic mice overexpressing the human Cu/Zn-SOD gene: ultrastructural studies of a premature thymic involution model of Down's syndrome (trisomy 21).

P. Sinet, D. Paris, M. Casanova, 1996, Laboratory investigation; a journal of technical methods and pathology.

De novo t(X;21) (q28;ql 1) in a girl with phenotypic features of Williams-Beuren syndrome

P. Sinet, A. Nicole, L. Telvi, 2022 .

Chromosome 21, Trisomy 21, and Alzheimer’s Disease

J. Delabar, J. Huret, Z. Rahmani, 1988 .