Analysis of Parkinson's disease brain–derived DNA for alpha-synuclein coding somatic mutations
暂无分享,去创建一个
E. Tolosa | A. Schapira | N. Wood | H. Houlden | U. Sheerin | G. Charlesworth | C. Proukakis | E. Kara | T. Brier | J. Morris | Maryiam Shoaee
[1] Kun Zhang,et al. Massively parallel polymerase cloning and genome sequencing of single cells using nanoliter microwells , 2013, Nature Biotechnology.
[2] Evan Z. Macosko,et al. Our Fallen Genomes , 2013, Science.
[3] Z. Israel,et al. The LRRK2 G2019S mutation status does not affect the outcome of subthalamic stimulation in patients with Parkinson's disease. , 2013, Parkinsonism & related disorders.
[4] Ira M. Hall,et al. Mosaic Copy Number Variation in Human Neurons , 2013, Science.
[5] Deborah A Nickerson,et al. Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). , 2013, Human molecular genetics.
[6] James Hadfield,et al. Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension , 2013, Nature Genetics.
[7] J. Lupski. Genome Mosaicism—One Human, Multiple Genomes , 2013, Science.
[8] C. Walsh,et al. Somatic Mutation, Genomic Variation, and Neurological Disease , 2013, Science.
[9] Annabelle L. Fonseca,et al. Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism , 2013, Nature Genetics.
[10] T. Gasser,et al. Parkinson's disease: Is it all in the genes? , 2013, Movement disorders : official journal of the Movement Disorder Society.
[11] C. Klein,et al. The many faces of alpha‐synuclein mutations , 2013, Movement disorders : official journal of the Movement Disorder Society.
[12] A. Schapira,et al. Somatic Alpha-Synuclein Mutations in Parkinson's Disease: Hypothesis and Preliminary Data , 2013, Movement disorders : official journal of the Movement Disorder Society.
[13] Leslie G. Biesecker,et al. A genomic view of mosaicism and human disease , 2013, Nature Reviews Genetics.
[14] T. Wieland,et al. Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension , 2013, Nature Genetics.
[15] J. Hardy,et al. α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson’s disease and multiple system atrophy? , 2013, Acta Neuropathologica.
[16] D. Absher,et al. Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime , 2012, Journal of Medical Genetics.
[17] M. Gerstein,et al. Somatic copy-number mosaicism in human skin revealed by induced pluripotent stem cells , 2012, Nature.
[18] S. Rosset,et al. Dyskinesias in patients with Parkinson's disease: effect of the leucine-rich repeat kinase 2 (LRRK2) G2019S mutation. , 2012, Parkinsonism & related disorders.
[19] J. Lupski. Brain Copy Number Variants and Neuropsychiatric Traits , 2012, Biological Psychiatry.
[20] Michael P. Snyder,et al. Extensive genetic variation in somatic human tissues , 2012, Proceedings of the National Academy of Sciences.
[21] J. Kim,et al. Postural Instability and Cognitive Dysfunction in Early Parkinson's Disease , 2012, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.
[22] Francesca Chiaromonte,et al. A genome-wide analysis of common fragile sites: What features determine chromosomal instability in the human genome? , 2012, Genome research.
[23] N. Hattori,et al. Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow‐up , 2011, Movement disorders : official journal of the Movement Disorder Society.
[24] Mohamad Saad,et al. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies , 2011, The Lancet.
[25] Jeffrey M. Hausdorff,et al. Gait alterations in healthy carriers of the LRRK2 G2019S mutation , 2011, Annals of neurology.
[26] M. Farrer,et al. LRRK2 and Parkinson disease. , 2010, Archives of neurology.
[27] K. Mrasek,et al. Early Embryonic Chromosome Instability Results in Stable Mosaic Pattern in Human Tissues , 2010, PloS one.
[28] S. Frank. Somatic evolutionary genomics: Mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration , 2010, Proceedings of the National Academy of Sciences.
[29] Carl T Wittwer,et al. High‐resolution DNA melting analysis: advancements and limitations , 2009, Human mutation.
[30] Y Ben-Shlomo,et al. The effect of onset age on the clinical features of Parkinson’s disease , 2009, European journal of neurology.
[31] E. Tolosa,et al. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study , 2008, The Lancet Neurology.
[32] Nir Giladi,et al. The effect of cigarette smoking, tea, and coffee consumption on the progression of Parkinson's disease. , 2007, Parkinsonism & related disorders.
[33] Nobutaka Hattori,et al. Prognosis of Parkinson's disease: Time to stage III, IV, V, and to motor fluctuations , 2006, Movement disorders : official journal of the Movement Disorder Society.
[34] K. Marder,et al. Contribution of aging to the severity of different motor signs in Parkinson disease. , 2005, Archives of neurology.
[35] R. Pamphlett. Somatic mutation: a cause of sporadic neurodegenerative diseases? , 2004, Medical hypotheses.
[36] T. Iwatsubo,et al. α‐Synuclein Accumulates in Purkinje Cells in Lewy Body Disease but not in Multiple System Atrophy , 2003 .
[37] I Litvan,et al. Progression of Hoehn and Yahr stages in parkinsonian disorders: A clinicopathologic study , 2000, Neurology.
[38] E. van der Velde,et al. Clinical course of patients with idiopathic Parkinson's disease , 1996, Movement disorders : official journal of the Movement Disorder Society.
[39] J. Hughes,et al. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. , 1992, Journal of neurology, neurosurgery, and psychiatry.
[40] Hideo Fujiwara,et al. Alpha-synuclein accumulates in Purkinje cells in Lewy body disease but not in multiple system atrophy. , 2003, Journal of neuropathology and experimental neurology.