Neurogenetics: Advancing the “Next-Generation” of Brain Research
暂无分享,去创建一个
[1] A. Bass,et al. Neurobiology of vocal communication: mechanisms for sensorimotor integration and vocal patterning , 2010, Current Opinion in Neurobiology.
[2] J. Hardy,et al. Genetic Analysis of Pathways to Parkinson Disease , 2010, Neuron.
[3] E. Eichler,et al. Phenotypic variability and genetic susceptibility to genomic disorders. , 2010, Human molecular genetics.
[4] F. Quintero-Rivera,et al. Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: Case report and review , 2010, American journal of medical genetics. Part A.
[5] C. Scharff,et al. Knockdown of FoxP2 alters spine density in Area X of the zebra finch , 2010, Genes, brain, and behavior.
[6] Rebecca B. Smith,et al. Native Functions of the Androgen Receptor Are Essential to Pathogenesis in a Drosophila Model of Spinobulbar Muscular Atrophy , 2010, Neuron.
[7] S. Finkbeiner,et al. PolyQ Disease: Too Many Qs, Too Much Function? , 2010, Neuron.
[8] Huda Y. Zoghbi,et al. SCA1-like Disease in Mice Expressing Wild-Type Ataxin-1 with a Serine to Aspartic Acid Replacement at Residue 776 , 2010, Neuron.
[9] D. Cutler,et al. Microdeletions of 3q29 confer high risk for schizophrenia. , 2010, American journal of human genetics.
[10] N. Wu,et al. Production of p53 gene knockout rats by homologous recombination in embryonic stem cells , 2010, Nature.
[11] J. Gécz,et al. ARX spectrum disorders: making inroads into the molecular pathology , 2010, Human mutation.
[12] Thomas Bourgeron,et al. Key role for gene dosage and synaptic homeostasis in autism spectrum disorders. , 2010, Trends in genetics : TIG.
[13] Shihua Li,et al. Expression of Huntington's disease protein results in apoptotic neurons in the brains of cloned transgenic pigs. , 2010, Human molecular genetics.
[14] J. Clayton-Smith,et al. Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder , 2010, Clinical dysmorphology.
[15] D. Westaway,et al. Lysosomal Proteolysis and Autophagy Require Presenilin 1 and Are Disrupted by Alzheimer-Related PS1 Mutations , 2010, Cell.
[16] J. Lupski,et al. Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. , 2010, American journal of human genetics.
[17] Michael R. Johnson,et al. Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. , 2010, American journal of human genetics.
[18] M. Cookson,et al. Parkinson's disease: insights from pathways. , 2010, Human molecular genetics.
[19] Marie-Pierre Dubé,et al. De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia , 2010, Proceedings of the National Academy of Sciences.
[20] K. Ess. Tuberous sclerosis complex: a brave new world? , 2010, Current opinion in neurology.
[21] J. Mastrianni. The genetics of prion diseases , 2010, Genetics in Medicine.
[22] N. Jones. Parkinson disease: PINK1 targets dysfunctional mitochondria for autophagy in Parkinson disease , 2010, Nature Reviews Neurology.
[23] Charles Lee,et al. The clinical context of copy number variation in the human genome , 2010, Expert Reviews in Molecular Medicine.
[24] Deborah L. Levy,et al. A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay , 2010, Nature Genetics.
[25] Ignacio Anegon,et al. Knockout Rats via Embryo Microinjection of Zinc-Finger Nucleases , 2009, Science.
[26] M. Fortini,et al. Notch signaling: the core pathway and its posttranslational regulation. , 2009, Developmental cell.
[27] C. Libert,et al. Thirty years of Mus spretus: a promising future. , 2009, Trends in genetics : TIG.
[28] J. Lupski,et al. Genomic disorders ten years on , 2009, Genome Medicine.
[29] Gustavo Turecki,et al. Epigenetic regulation of the glucocorticoid receptor in human brain associates with childhood abuse , 2009, Nature Neuroscience.
[30] Pall I. Olason,et al. Disruption of the neurexin 1 gene is associated with schizophrenia. , 2009, Human molecular genetics.
[31] Marc Tessier-Lavigne,et al. APP binds DR6 to trigger axon pruning and neuron death via distinct caspases , 2009, Nature.
[32] S. Dib-Hajj,et al. Inherited Neuronal Ion Channelopathies: New Windows on Complex Neurological Diseases , 2008, The Journal of Neuroscience.
[33] H. Zoghbi,et al. Failure of neuronal homeostasis results in common neuropsychiatric phenotypes , 2008, Nature.
[34] R. Paylor,et al. Pitfalls in the interpretation of genetic and pharmacological effects on anxiety-like behaviour in rodents , 2008, Behavioural pharmacology.
[35] J. Bachevalier,et al. Towards a transgenic model of Huntington’s disease in a non-human primate , 2008, Nature.
[36] M. Daly,et al. Disruption of neurexin 1 associated with autism spectrum disorder. , 2008, American journal of human genetics.
[37] H. Mefford,et al. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant , 2008, Journal of Medical Genetics.
[38] Christine Van Broeckhoven,et al. Molecular genetics of Alzheimer's disease: An update , 2008, Annals of medicine.
[39] H. Zoghbi,et al. Trinucleotide repeat disorders. , 2007, Annual review of neuroscience.
[40] Fikret Erdogan,et al. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation , 2007, Human mutation.
[41] Kenny Q. Ye,et al. Strong Association of De Novo Copy Number Mutations with Autism , 2007, Science.
[42] A. Bird,et al. Reversal of Neurological Defects in a Mouse Model of Rett Syndrome , 2007, Science.
[43] D. Conrad,et al. Global variation in copy number in the human genome , 2006, Nature.
[44] R. Waterland,et al. Maternal methyl supplements increase offspring DNA methylation at Axin fused , 2006, Genesis.
[45] Sunhong Kim,et al. Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin , 2006, Nature.
[46] Changan Jiang,et al. Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin , 2006, Nature.
[47] N. Sousa,et al. A hitchhiker's guide to behavioral analysis in laboratory rodents , 2006, Genes, brain, and behavior.
[48] A. Barabasi,et al. A Protein–Protein Interaction Network for Human Inherited Ataxias and Disorders of Purkinje Cell Degeneration , 2006, Cell.
[49] I. Weaver,et al. Reversal of Maternal Programming of Stress Responses in Adult Offspring through Methyl Supplementation: Altering Epigenetic Marking Later in Life , 2005, The Journal of Neuroscience.
[50] J. Gécz,et al. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. , 2005, American journal of human genetics.
[51] B. Hyman,et al. Tau Suppression in a Neurodegenerative Mouse Model Improves Memory Function , 2005, Science.
[52] B. D. de Vries,et al. 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. , 2005, American journal of human genetics.
[53] Harry T Orr,et al. Recovery from Polyglutamine-Induced Neurodegeneration in Conditional SCA1 Transgenic Mice , 2004, The Journal of Neuroscience.
[54] Kenny Q. Ye,et al. Large-Scale Copy Number Polymorphism in the Human Genome , 2004, Science.
[55] Mark F Bear,et al. The mGluR theory of fragile X mental retardation , 2004, Trends in Neurosciences.
[56] G. Mardon,et al. Drosophila parkin mutants have decreased mass and cell size and increased sensitivity to oxygen radical stress , 2004, Development.
[57] Laura Scott,et al. Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome , 2003, Nature.
[58] J. C. Greene,et al. Mitochondrial pathology and apoptotic muscle degeneration in Drosophila parkin mutants , 2003, Proceedings of the National Academy of Sciences of the United States of America.
[59] Mark F. Bear,et al. Altered synaptic plasticity in a mouse model of fragile X mental retardation , 2002, Proceedings of the National Academy of Sciences of the United States of America.
[60] C. Stewart,et al. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. , 2002, American journal of human genetics.
[61] A. Monaco,et al. A forkhead-domain gene is mutated in a severe speech and language disorder , 2001, Nature.
[62] S. Prusiner,et al. Shattuck lecture--neurodegenerative diseases and prions. , 2001, The New England journal of medicine.
[63] H. Zoghbi,et al. Identification of genes that modify ataxin-1-induced neurodegeneration , 2000, Nature.
[64] René Hen,et al. Reversal of Neuropathology and Motor Dysfunction in a Conditional Model of Huntington's Disease , 2000, Cell.
[65] Ash A. Alizadeh,et al. Genome-wide analysis of DNA copy number variation in breast cancer using DNA microarrays , 1999, Nature Genetics.
[66] H. Zoghbi,et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 , 1999, Nature Genetics.
[67] Ash A. Alizadeh,et al. Genome-wide analysis of DNA copy-number changes using cDNA microarrays , 1999, Nature Genetics.
[68] F. Muntoni,et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy , 1999, Nature Genetics.
[69] R. Kodell,et al. Maternal epigenetics and methyl supplements affect agouti gene expression in Avy/a mice , 1998, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.
[70] 홀덴 데이비드윌리암,et al. Identification of genes , 1995 .
[71] Cécile Fizames,et al. The 1993–94 Généthon human genetic linkage map , 1994, Nature Genetics.
[72] J. Lupski,et al. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. , 1994, Human molecular genetics.
[73] D. Ledbetter,et al. Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats , 1993, Nature.
[74] S. Horn,et al. Predicting length of stay for patients with psychoses. , 1992, Health services research.
[75] C. Caskey,et al. DNA typing and genetic mapping with trimeric and tetrameric tandem repeats. , 1991, American journal of human genetics.
[76] Aravinda Chakravarti,et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A , 1991, Cell.
[77] J. Sutcliffe,et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome , 1991, Cell.
[78] D. Ledbetter,et al. Uniparental disomy as a mechanism for human genetic disease. , 1988, American journal of human genetics.
[79] M. Koenig,et al. Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals , 1987, Cell.
[80] M. Olson,et al. Cloning of large segments of exogenous DNA into yeast by means of artificial chromosome vectors. , 1987, Science.
[81] C. Disteche,et al. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. , 1985, American journal of human genetics.
[82] D. Schwartz,et al. Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis , 1984, Cell.
[83] A. Young,et al. A polymorphic DNA marker genetically linked to Huntington's disease , 1983, Nature.
[84] K. Davies,et al. Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy , 1982, Nature.
[85] D. Ledbetter,et al. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. , 1981, The New England journal of medicine.
[86] G. Clarke,et al. Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. , 1979, Journal of medical genetics.
[87] N. Wu,et al. Production of p 53 gene knockout rats by homologous recombination in embryonic stem cells , 2012 .
[88] Pall I. Olason,et al. Copy number variations of chromosome 16p13.1 region associated with schizophrenia , 2011, Molecular Psychiatry.
[89] Thomas Bourgeron,et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders , 2007, Nature Genetics.
[90] D. Ledbetter,et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. , 1993, Nature.