9,008 research outputs found
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families
No full textIsolated complex I deficiency is the most frequently observed oxidative phosphorylation defect in children with mitochondrial disease, leading to a diverse range of clinical presentations, including Leigh syndrome. For most patients the genetic cause of the biochemical defect remains unknown due to incomplete understanding of the complex I assembly process. Nonetheless, a plethora of pathogenic mutations have been described to date in the seven mitochondrial-encoded subunits of complex I as well as in 12 of the nuclear-encoded subunits and in six assembly factors. Whilst several mitochondrial DNA mutations are recurrent, the majority of these mutations are reported in single families. We have sequenced core structural and functional nuclear-encoded subunits of complex I in a cohort of 34 paediatric patients with isolated complex I deficiency, identifying pathogenic mutations in 6 patients. These included a novel homozygous NDUFS1 mutation in an Asian child with Leigh syndrome, a previously identified NDUFS8 mutation (c.236C>T, p.P79L) in a second Asian child with Leigh-like syndrome and six novel, compound heterozygous NDUFS2 mutations in four white Caucasian patients with Leigh or Leigh-like syndrome. Three of these children harboured an identical NDUFS2 mutation (c.875T>C, p.M292T), which was also identified in conjunction with a novel NDUFS2 splice site mutation (c.866+4A>G) in a fourth Caucasian child who presented to a different diagnostic centre, with microsatellite and single nucleotide polymorphism analyses indicating that this was due to an ancient common founder event. Our results confirm that NDUFS2 is a mutational hotspot in Caucasian children with isolated complex I deficiency and recommend the routine diagnostic investigation of this gene in patients with Leigh or Leigh-like phenotypes
Letter From Leigh Hunt to Dear Sir
No full textabstract: Concerning Hunt's request that the recipient reply with the time in which Hunt's little boy can come pick up payment for an article Hunt wrote.Seller's Description: Attached note reads: 133 Hunt, Leigh. English author, A.L.s. in the third person. 1 p., 4to; with the integral address leaf. "Regents' Park-May" n.d. $50.00.Curator's Note: Handwritten notes read "1833 or 1839" on recto and "From Men, Women, and Books" on verso.Paper details: Glue on verso indicated it was once glued into a book. Originally folded.Creation Date Details: Range given is the author's lifespan.Provenance: Removed from a set of Hunt's
Men, women, and books; a selection of sketches, essays, and critical memoirs, from his uncollected prose writings, by Leigh Hunt. Publisher London, Smith, Elder and co., 1847.
Local Call Numbers: SPEC E-1691 v.1, SPEC E-1691 v.2, SPEC E-1691 v.1,
SPEC E-1691 v.2
Key to De Gruchy & Leigh's Melbourne and suburbs, 1866 [cartographic material].
No full textPlanimetric map of Melbourne using an oblique aerial perspective of streets and roads with sketches of city buildings, topography such as landcover, parks and reserves as well as places of interest. View looks over Victoria Parade towards the city with Brighton and Sandridge on the horizon. Relief is shown pictorially.; Also available in an electronic version via the Internet at: http://nla.gov.au/nla.map-f851; Ferguson Collection Map F 851
Plan of Melbourne and suburbs [cartographic material] /
No full textRevised to 1866. Plan of Melbourne showing public buildings and places of interest.; Also available in an electronic version via the Internet at: http://nla.gov.au/nla.map-f882; Ferguson Collection Map F 882
Lewisham Estate Petersham [cartographic material] /
No full textPlan of allotments for sale in the Lewisham Estate with names of adjoining landholders.; Also available in an electronic version via the Internet at: http://nla.gov.au/nla.map-f770; Ferguson Collection Map F 770
Kinds of Self-Knowledge in Ancient Thought
No full textThis chapter explores the topic of self-knowledge in ancient thought, asking in particular what the ancient concept (or concepts) of knowing oneself amounts to. The chapter begins by contrasting the issues which occupy ancient and contemporary discussions of self-knowledge, and the obvious points of continuity and discontinuity between the two. The author isolates two forms of self-knowledge: cognitive self-knowledge or knowledge of one’s own mental states, and dispositional self-knowledge or knowledge of one’s moral or intellectual dispositions, and traces the treatment of these forms of self-knowledge in the works of Plato, Aristotle, Hellenistic philosophers, and Plotinus. In the course of discussing the texts of each thinker or school, and the relevant scholarship, this chapter also canvasses the ways in which the chapters in the rest of this volume seek to engage with some of the problems or issues that have emerged
Letter From Leigh Hunt to Edward Moxon
No full textabstract: Concerning Hunt's agitation at Mrs. Guest's actions and appeals to Moxon and Hunt's request that Moxon show this note to Mr. Forster.Curator's Note: This letter was partially published in A Sentimental Library, Comprising Books Formerly Owned by Famous Writers, Presentation Copies, Manuscripts and Drawings written by Harry Bache Smith (1860-1936), a successful American lyricist, writer, and composer.Provenance: Most likely donated to Special Collections along with the following three books:
1) Stories from the Italian poets : with lives of the writers / by Leigh Hunt. Publisher London : Chapman and Hall, 1846.
Local Call Number: SPEC E-1906 v.1
2) Stories from the Italian poets : with lives of the writers / by Leigh Hunt. Publisher London : Chapman and Hall, 1846.
Local Call Number: SPEC E-1906 v.2
3) A sentimental library, comprising books formerly owned by famous writers, presentation copies, manuscripts, and drawings collected and described by Harry B. Smith. With fifty-six illustrations. Publisher [New York] Privately Printed [by the De Vinne press] 1914.
Local Call Number: SPEC BA-152Postage Details: Address: Mr Moxon, Bond Street. Marked "Private." Folded for mailing
Letters: Leigh Family
No full textPersonal letters written to, and by, members of the Leigh, Porcher, and Wickham families. Also includes an extract from the will of Julia P. Wickham Preferred citation: Francis Peyre Porcher Papers, MSS 299, Waring Historical Library, Medical University of South Carolina, Charleston
Balmain Estate Subdn. lots 6 & 7 Section 6 Parish of Petersham [cartographic material] /
No full textMap of land for sale at Balmain with adjoining landholders.; Also available in an electronic version via the Internet at: http://nla.gov.au/nla.map-f540; Ferguson Collection Map F 540
Leigh Hobbs. Cast of characters
No full textThis publication accompanied the exhibition Leigh Hobbs: Cast of Characters, a solo exhibition by Australian artist and author Leigh Hobbs at La Trobe Art Institute, Bendigo, 9 August to 10 September 2017. This exhibition was held as part of the Bendigo Writers Festival 2017. The exhibition included illustrations by Hobbs for various books between 2004 and 2016, all works are ink and gauche on paper. The publication includes notes by Meg Sorenson, Mike Shuttleworth and Leigh Hobbs, a catalogue of works and 5 illustrations (colour).</p
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