Výsledky vyhledávání - "S. D. Wilton"

Consensus Report of the Working Group on: 'Molecular and Biochemical Markers of Alzheimer’s Disease'

Autor: Kwan-Fu Rex Sheu, Masakazu Mirua, Philip Scheltens, Toshifumi Matsui, Howard Feldman, M. L. Kennard, Bradley T. Hyman, Burton Resnick, S. D. Wilton, Irene Litvan, Lars Lannfelt, Douglas Galasko, T. Pirttla, Wilfred A. Jefferies, Malcolm L. Kennard, L. Lim, Dennis J. Selkoe, Christoph Hock, Amanda McRae, Sadao Takase, Hilkka Soininen, Giovanni B. Frisoni, B. A. Kakulas, Gary E. Gibson, Ram Parshad, J. E. Dench, Gregory R J Swanwick, Hidetata Sasaki, John Q. Trojanowski, M. R. Davis, Teresa S. Radebaugh, Sid Gilman, Christopher M. Clark, John H. Growdon, Steven E. Arnold, T. M. Jones, Leonard F. M. Scinto, Makoto Higuchi, Bengt Winblad, G. S. Zubenko, Hiroyuki Arai, Virginia M. Y. Lee, H. M. Wisniewski, Takeshi Iwatsubo, Allen D. Roses, Yasuo Ihara, T. Yamada, Hisatomo Seki, Lars-Olof Wahlund, Robert A. Sweet, Paavo Riekkinen, Judith Resnick, V. A. Fabian, John P. Blass, Norman L. Foster, P. St. George-Hyslop, Douglas C. Ewbank, Richard Mayeux, William E. Klunk, Tsuneo Yamazaki, Pankaj D. Mehta, Alfredo Robles, Zaven S. Khachaturian, André Delacourte, Susumu Higuchi, Peter Davies, Kaj Blennow

Publikováno v: Neurobiology of Aging. 19:109-116

The ideal biomarker for Alzheimer's disease (AD) should detect a fundamental feature of neuropathology and be validated in neuropathologically-confirmed cases: it should have a sensitivity >80% for detecting AD and a specificity of >80% for distingui

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c078282013d965636d144d08ba328194
https://doi.org/10.1016/s0197-4580(98)00022-0

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Antisense oligonucleotides, exon skipping and the dystrophin gene transcript

Autor: S D, Wilton, S, Fletcher

Publikováno v: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. 24(3)

Antisense oligonucleotide induced exon skipping has recently emerged as a potential therapy to by-pass the consequences of many, but not all dystrophin mutations that lead to Duchenne muscular dystrophy. Targeted removal of one or more exons, to rest

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cc3f5b0b74caf2aa2893278ccb7bcd80
https://pubmed.ncbi.nlm.nih.gov/16629057

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Development of a snapback method of single-strand conformation polymorphism analysis for genotyping Golden Retrievers for the X-linked muscular dystrophy allele

Autor: K, Honeyman, K S, Carville, J M, Howell, S, Fletcher, S D, Wilton

Publikováno v: American journal of veterinary research. 60(6)

To develop a snapback method of single-strand conformation polymorphism (SSCP) analysis for genotyping Golden Retrievers for the X-linked muscular dystrophy allele.20 Golden Retriever puppies from a colony with X-linked muscular dystrophy.DNA spannin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0f734bf040f5e02ae97e5a3a8355d9b1
https://pubmed.ncbi.nlm.nih.gov/10376903

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Alternative dystrophin gene transcripts in golden retriever muscular dystrophy

Autor: S J, Schatzberg, L V, Anderson, S D, Wilton, J N, Kornegay, C J, Mann, G G, Solomon, N J, Sharp

Publikováno v: Musclenerve. 21(8)

Golden retriever muscular dystrophy (GRMD), the canine model of Duchenne muscular dystrophy (DMD), is caused by a splice site mutation in the dystrophin gene. This mutation predicts a premature termination codon in exon 8 and a peptide that is 5% the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a346abf5c39e2944472d5cf81242d063
https://pubmed.ncbi.nlm.nih.gov/9655116

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Snapback SSCP analysis: engineered conformation changes for the rapid typing of known mutations

Autor: S D, Wilton, K, Honeyman, S, Fletcher, N G, Laing

Publikováno v: Human mutation. 11(3)

Several approaches may be applied to detect known mutations, including restriction enzyme cleavage, allele-specific oligonucleotide (ASO) hybridization or amplification, dideoxy fingerprinting, and direct DNA sequencing. All these approaches require

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::044519dc5289babcbe317e6fcc616967
https://pubmed.ncbi.nlm.nih.gov/9521428

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Dystrophin gene transcripts skipping the mdx mutation

Autor: S D, Wilton, D E, Dye, N G, Laing

Publikováno v: Musclenerve. 20(6)

The mdx mouse, an animal model used to study Duchenne muscular dystrophy, has a nonsense mutation in exon 23 of the dystrophin gene which should result in a truncated protein that cannot be correctly localized at the sarcolemma of the muscle fibers.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9a47111dc6cbb08e0dc3c214032dca9d
https://pubmed.ncbi.nlm.nih.gov/9149080

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