Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
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M. Simpson | S. Blumen | J. Tolar | J. R. McMillan | M. Akiyama | J. McGrath | M. Parsons | W. McLean | E. Reid | C. Pourreyron | L. Basel‐Vanagaite | H. Al-Ajmi | Y. Barhum | R. Straussberg | Lu Liu | T. Hayday | A. Nanda | T. Takeichi | Magdalene Michael | Julia Yu‐Yun Lee | J. Y. Lee | S. Abu-Mouch | Hsin-Yu Huang | C. Hsu | Yasmin Zouabi | T. Lin | J. McGrath | J. McMillan | W. Mclean | Ting Chien Lin
[1] Liangdan Sun,et al. Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci , 2016, Front. Genet..
[2] S. Mandal,et al. Vitiligo with spastic paraparesis: A rare neurocutaneous syndrome , 2009, Journal of Pediatric Neurology.
[3] S. Kirker,et al. Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing , 2014, Journal of Neurology.
[4] Rui Chen,et al. DSTYK kinase domain ablation impaired the mice capabilities of learning and memory in water maze test. , 2014, International journal of clinical and experimental pathology.
[5] Lars Feuk,et al. The Database of Genomic Variants: a curated collection of structural variation in the human genome , 2013, Nucleic Acids Res..
[6] R. Spritz. Modern vitiligo genetics sheds new light on an ancient disease , 2013, The Journal of dermatology.
[7] R. Ravazzolo,et al. Mutations in DSTYK and dominant urinary tract malformations. , 2013, The New England journal of medicine.
[8] Chunquan Li,et al. CNVD: Text mining‐based copy number variation in disease database , 2012, Human mutation.
[9] Nicholas W. Wood,et al. A robust model for read count data in exome sequencing experiments and implications for copy number variant calling , 2012, Bioinform..
[10] U. Suter,et al. Schwann Cell Precursors from Nerve Innervation Are a Cellular Origin of Melanocytes in Skin , 2009, Cell.
[11] Manuel Corpas,et al. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. , 2009, American journal of human genetics.
[12] R A Knight,et al. Classification of cell death: recommendations of the Nomenclature Committee on Cell Death 2009 , 2005, Cell Death and Differentiation.
[13] C. Morris,et al. Double complex mutations involving F8 and FUNDC2 caused by distinct break‐induced replication , 2007, Human mutation.
[14] Jan-Fang Cheng,et al. Dusty protein kinases: primary structure, gene evolution, tissue specific expression and unique features of the catalytic domain. , 2006, Biochimica et biophysica acta.
[15] P. Stenson,et al. Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions , 2005, Human mutation.
[16] J. Tschopp,et al. The RIP kinases: crucial integrators of cellular stress. , 2005, Trends in biochemical sciences.
[17] R A Knight,et al. Classification of cell death: recommendations of the Nomenclature Committee on Cell Death , 2005, Cell Death and Differentiation.
[18] Z. Zhai,et al. RIP5 is a RIP-homologous inducer of cell death. , 2004, Biochemical and biophysical research communications.
[19] S. Blumen,et al. A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24‐q32 , 2003, Annals of neurology.
[20] J. Bamforth. Vitiligo-spasticity syndrome: new case. , 2003, Clinical dysmorphology.
[21] David Botstein,et al. SOURCE: a unified genomic resource of functional annotations, ontologies, and gene expression data , 2003, Nucleic Acids Res..
[22] D. Bredesen,et al. An alternative, nonapoptotic form of programmed cell death. , 2000, Proceedings of the National Academy of Sciences of the United States of America.
[23] A. Metzker,et al. Spastic paraparesis, mental retardation, and cutaneous pigmentation disorder. A new syndrome. , 1985, American journal of diseases of children.
[24] Y. Hiss,et al. Progressive spastic paraparesis, vitiligo, premature graying, and distinct facial appearance: a new genetic syndrome in 3 sibs. , 1981, American journal of medical genetics.
[25] W. Mcdonald,et al. Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome. , 1980, Journal of neurology, neurosurgery, and psychiatry.