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1. Full Text Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized
by Bienvenu, Thierry and Chelly, Jamel
Nature reviews. Genetics, ISSN 1471-0056, 06/2006, Volume 7, Issue 6, pp. 415 - 426
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Neurology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | DNA Methylation | Rett Syndrome - genetics | Humans | Methyl-CpG-Binding Protein 2 - genetics | Gene Expression Regulation | Index Medicus
Journal Article
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2. Full Text Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects
by Jaglin, Xavier H and Chelly, Jamel
Trends in genetics, ISSN 0168-9525, 2009, Volume 25, Issue 12, pp. 555 - 566
Medical Education | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Neurology | Malformations of the nervous system | Biological and medical sciences | Cytoskeleton, cytoplasm. Intracellular movements | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Cell structures and functions | Microtubules - metabolism | Tubulin - metabolism | Animals | Cerebral Cortex - embryology | Humans | Cerebral Cortex - pathology | Neurons - cytology | Cell Movement | Index Medicus
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3. RhoGTPases et pathologies humaines
by Chelly, Jamel
2002, Annales de l'Institut Pasteur. Actualités, ISBN 2842993993, Volume 14., 111
Pathology | G proteins
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4. Full Text Genetics and pathophysiology of mental retardation
by Chelly, Jamel and Khelfaoui, Malik and Francis, Fiona and Chérif, Beldjord and Bienvenu, Thierry
European journal of human genetics : EJHG, ISSN 1018-4813, 06/2006, Volume 14, Issue 6, pp. 701 - 713
XLMR | Neuronal morphogenesis and plasticity | RhoGTPase pathways | Mental retardation | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | General aspects. Genetic counseling | Psychology. Psychoanalysis. Psychiatry | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Medical genetics | Intellectual deficiency | Biological and medical sciences | Medical sciences | Metabolic Diseases - pathology | Chromosomes, Human - genetics | Humans | Cognition Disorders - pathology | Intellectual Disability - pathology | Databases, Genetic | Cognition Disorders - genetics | Nervous System Diseases - genetics | Syndrome | Intellectual Disability - genetics | Metabolic Diseases - genetics | Databases, Bibliographic | Nervous System Diseases - pathology | Phenotypes | Intelligence | Neurons | Intellectual disabilities | Premature birth | Cognitive ability | Heredity | Descartes, Rene (1596-1650) | Metabolism | Males | Neurological diseases | Databases | DNA methylation | Genetics | Mutation | Internet | Index Medicus
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5. Full Text Refining the phenotype associated with MEF2C point mutations
by Bienvenu, Thierry and Bienvenu, Thierry and Diebold, Bertrand and Diebold, Bertrand and Chelly, Jamel and Chelly, Jamel and Isidor, Bertrand and Isidor, Bertrand
Neurogenetics, ISSN 1364-6745, 2/2013, Volume 14, Issue 1, pp. 71 - 75
Human Genetics | Neurosciences | MEF2C | Biomedicine | Intellectual disability | Hand stereotypies | Molecular Medicine | Mental retardation | Clinical Neurology | Genetics & Heredity | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Strabismus - complications | Humans | Child, Preschool | Molecular Sequence Data | Intellectual Disability - complications | Male | Developmental Disabilities - genetics | Strabismus - genetics | Epilepsy - epidemiology | Intellectual Disability - genetics | DNA Mutational Analysis | Base Sequence | Epilepsy - genetics | Female | Child | MEF2 Transcription Factors | Intellectual Disability - epidemiology | Genetic Association Studies | Myogenic Regulatory Factors - genetics | MADS Domain Proteins - genetics | Epilepsy - complications | Strabismus - epidemiology | Developmental Disabilities - epidemiology | Point Mutation | Phenotype | Adolescent | Developmental Disabilities - complications | Cohort Studies | Genetic aspects | Gene mutations | Mental illness | Epilepsy | Genotype & phenotype | Mutation | Genes | Index Medicus
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6. Full Text Early‐Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation
by Kim, Christine Y and Wirth, Thomas and Hubsch, Cécile and Németh, Andrea H and Okur, Volkan and Anheim, Mathieu and Drouot, Nathalie and Tranchant, Christine and Rudolf, Gabrielle and Chelly, Jamel and Tatton‐Brown, Katrina and Blauwendraat, Cornelis and Vonsattel, Jean Paul G and Cortes, Etty and Alcalay, Roy N and Chung, Wendy K
Annals of neurology, ISSN 0364-5134, 11/2020, Volume 88, Issue 5, pp. 1028 - 1033
Humans | Middle Aged | Protein Phosphatase 2 - genetics | Male | Mutation - genetics | DNA - genetics | Exome | Parkinsonian Disorders - pathology | Autopsy | Pedigree | Age of Onset | Brain - pathology | Adult | Female | Parkinsonian Disorders - genetics | Basal ganglia | Gliosis | Neuropathology | Substantia nigra | Central nervous system diseases | Levodopa | Mutation | Neurodevelopmental disorders | Movement disorders | Lewy bodies | Index Medicus
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7. Full Text Progressive muscular dystrophies
by Chelly, Jamel and Desguerre, Isabelle
2013, ISBN 0444595651, Volume 113
Dystrophin - genetics | Humans | Muscle, Skeletal - metabolism | Muscular Dystrophy, Duchenne - pathology | Muscle, Skeletal - pathology | Muscular Dystrophy, Duchenne - genetics | Mutation | Child | Dystrophin - metabolism | Disease Progression | Muscular Dystrophy, Duchenne - diagnosis | Index Medicus
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8. Full Text Loss‐of‐Function Mutations in NR4A2 Cause Dopa‐Responsive Dystonia Parkinsonism
by Wirth, Thomas and Mariani, Louise Laure and Bergant, Gaber and Baulac, Michel and Habert, Marie‐Odile and Drouot, Nathalie and Ollivier, Emmanuelle and Hodžić, Alenka and Rudolf, Gorazd and Nitschke, Patrick and Rudolf, Gabrielle and Chelly, Jamel and Tranchant, Christine and Anheim, Mathieu and Roze, Emmanuel
Movement disorders, ISSN 0885-3185, 05/2020, Volume 35, Issue 5, pp. 880 - 885
NR4A2 | developmental delay | parkinsonism | dystonia | next generation sequencing | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neuroimaging | Dihydroxyphenylalanine | Phenotypes | Basal ganglia | Dopamine | Intellectual disabilities | Frameshift mutation | Central nervous system diseases | Haploinsufficiency | Magnetic resonance imaging | Children | Mutation | Dystonia | Movement disorders | Dopamine receptors | Denervation | Index Medicus
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9. Full Text Key clinical features to identify girls with CDKL5 mutations
by Bahi-Buisson, Nadia and Nectoux, Juliette and Rosas-Vargas, Haydeé and Milh, Mathieu and Boddaert, Nathalie and Girard, Benoit and Cances, Claude and Ville, Dorothée and Afenjar, Alexandra and Rio, Marlène and Héron, Delphine and N'Guyen Morel, Marie Ange and Arzimanoglou, Alexis and Philippe, Christophe and Jonveaux, Philippe and Chelly, Jamel and Bienvenu, Thierry
Brain (London, England : 1878), ISSN 0006-8950, 10/2008, Volume 131, Issue 10, pp. 2647 - 2661
MECP2 | CDKL5 | Rett syndrome | Seizures | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurological Impairments | Epilepsy | Pervasive Developmental Disorders | Genetics | Females | Genetic Disorders | Clinical Diagnosis | Symptoms (Individual Disorders) | Neurology | Biological and medical sciences | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Spasms, Infantile - physiopathology | Humans | Cercopithecus aethiops | Child, Preschool | RNA, Messenger - analysis | Infant | Electroencephalography | Spasms, Infantile - genetics | Head - pathology | Transfection - methods | DNA Mutational Analysis | Adult | Epilepsy - genetics | Female | Child | Muscle Hypotonia - genetics | Protein-Serine-Threonine Kinases - genetics | Reverse Transcriptase Polymerase Chain Reaction | Spasms, Infantile - pathology | Magnetic Resonance Imaging | Phenotype | Animals | Adolescent | Mutation | Rett Syndrome - genetics | COS Cells | Index Medicus | Abridged Index Medicus
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10. Full Text The wide spectrum of tubulinopathies: What are the key features for the diagnosis?
by Bahi-Buisson, Nadia and Poirier, Karine and Fourniol, Franck and Saillour, Yoann and Valence, Stéphanie and Lebrun, Nicolas and Hully, Marie and Bianco, Catherine Fallet and Boddaert, Nathalie and Elie, Caroline and Lascelles, Karine and Souville, Isabelle and Beldjord, Cherif and Chelly, Jamel and LIS-Tubulinopathies Consortium
Brain (London, England : 1878), ISSN 0006-8950, 2014, Volume 137, Issue 6, pp. 1676 - 1700
microcephaly | tubulin | polymicrogyria | lissencephaly | microlissencephaly | pachygyria | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Malformations of the nervous system | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Agenesis of Corpus Callosum - diagnosis | Lissencephaly - diagnosis | Microcephaly - genetics | Humans | Child, Preschool | Agenesis of Corpus Callosum - epidemiology | Infant | Male | Tubulin - genetics | Developmental Disabilities - genetics | Cerebellum - abnormalities | Microcephaly - epidemiology | Young Adult | Malformations of Cortical Development - diagnosis | Agenesis of Corpus Callosum - genetics | Adult | Female | Nervous System Malformations - genetics | Child | Developmental Disabilities - diagnosis | Lissencephaly - epidemiology | Microcephaly - diagnosis | Mutation - genetics | Nervous System Malformations - epidemiology | Developmental Disabilities - epidemiology | Phenotype | Malformations of Cortical Development - epidemiology | Adolescent | Nervous System Malformations - diagnosis | Index Medicus | Abridged Index Medicus
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