Výsledky vyhledávání - "P. J. C. Smith"

Akademický článek

Sanfilippo syndrome: consensus guidelines for clinical care

Autor: Nicole Muschol, Roberto Giugliani, Simon A. Jones, Joseph Muenzer, Nicholas J. C. Smith, Chester B. Whitley, Megan Donnell, Elise Drake, Kristina Elvidge, Lisa Melton, Cara O’Neill, MPS III Guideline Development Group

Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-23 (2022)

Abstract Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative lysosomal storage disorders that is characterized by childhood dementia. The clinical management of patients with progressive neurological decline and multisy

Externí odkaz: https://doaj.org/article/a5ad5c79ef39448c83fadab522d1e902

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Akademický článek

Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder

Autor: Raman Kumar, Mark A. Corbett, Nicholas J. C. Smith, Daniella H. Hock, Zoya Kikhtyak, Liana N. Semcesen, Atsushi Morimoto, Sangmoon Lee, David A. Stroud, Joseph G. Gleeson, Eric A. Haan, Jozef Gecz

Publikováno v: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)

Abstract TIMMDC1 encodes the Translocase of Inner Mitochondrial Membrane Domain-Containing protein 1 (TIMMDC1) subunit of complex I of the electron transport chain responsible for ATP production. We studied a consanguineous family with two affected c

Externí odkaz: https://doaj.org/article/3573a379dbf14bad94f8b937feac8378

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Akademický článek

Defining synphenotype groups in Xenopus tropicalis by use of antisense morpholino oligonucleotides.

Autor: Amer Ahmed Rana, Clara Collart, Michael J Gilchrist, J C Smith

Publikováno v: PLoS Genetics, Vol 2, Iss 11, p e193 (2006)

To identify novel genes involved in early development, and as proof-of-principle of a large-scale reverse genetics approach in a vertebrate embryo, we have carried out an antisense morpholino oligonucleotide (MO) screen in Xenopus tropicalis, in the

Externí odkaz: https://doaj.org/article/b211f8c8eb344d418db5bf39ed0b1e57

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Investigation of Saturns atmosphere by Cassini

Autor: P. J. C. Smith, Pgj Irwin, Peter L. Read, C.A. Nixon, S. B. Calcutt, T. J. Vellacott, Fredric W. Taylor

Publikováno v: Scopus-Elsevier

This paper considers the rationale for the exploration of Saturn's atmosphere by the Cassini mission, taking account of the key scientific questions posed by the earlier investigation by Voyager, and the capabilities of the instrumentation making up

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88a9c86201758abcbe0d69a0c632d8bf
https://doi.org/10.1016/s0032-0633(97)00229-8

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QND measurements using dual ported cavities

Autor: P. J. C. Smith, F. E. Harrison, D. F. Walls, Matthew Collett, M. J. Dunstan

Publikováno v: Scopus-Elsevier

Optical QND measurements may be made using devices which act as nonlinear beam splitters, transmitting noise in a phase-sensitive way. One class of such devices are resonant optical cavities containing a nonlinear medium. By appropriate choice of non

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fac4abbac38b12b7cd3ac82f6f59b56
https://doi.org/10.1007/s003400050168

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LALS: a linked-atom least-squares reciprocal-space refinement system incorporating stereochemical restraints to supplement sparse diffraction data

Autor: P. J. C. Smith, S. Arnott

Publikováno v: Acta Crystallographica Section A. 34:3-11

LALS is a computer program for the refinement of molecular structures. It is primarily intended for helical macromolecules but has applicability in other fields. The refinement uses as data, X-ray structure factors, usually from fibre diffraction stu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::079b12905203bf6fdfd2c611780449e7
https://doi.org/10.1107/s0567739478000029

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