Search Results - "Chinnery, P."

Inheritance of mitochondrial DNA in humans: implications for rare and common diseases by Wei, W., Chinnery, P. F.

“…The first draft human mitochondrial DNA (mtDNA) sequence was published in 1981, paving the way for two decades of discovery linking mtDNA variation with human…”
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Inherited mitochondrial optic neuropathies by Yu-Wai-Man, P, Griffiths, P G, Hudson, G, Chinnery, P F

“…Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA) are the two most common inherited optic neuropathies and they result in…”
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Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis by MATTHEWS, E, LABRUM, R, HANNA, M. G, SWEENEY, M. G, SUD, R, HAWORTH, A, CHINNERY, P. F, MEOLA, G, SCHORGE, S, KULLMANN, D. M, DAVIS, M. B

“…Several missense mutations of CACNA1S and SCN4A genes occur in hypokalemic periodic paralysis. These mutations affect arginine residues in the S4 voltage…”
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T2 and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation by MCNEILL, A, BIRCHALL, D, HAYFLICK, S. J, GREGORY, A, SCHENK, J. F, ZIMMERMAN, E. A, SHANG, H, MIYAJIMA, H, CHINNERY, P. F

“…Neurodegeneration with brain iron accumulation (NBIA) defines a group of genetic disorders characterized by brain iron deposition and associated with neuronal…”
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Persistence of the treatment effect of idebenone in Leber's hereditary optic neuropathy by Klopstock, T, Metz, G, Yu-Wai-Man, P, Büchner, B, Gallenmüller, C, Bailie, M, Nwali, N, Griffiths, P G, von Livonius, B, Reznicek, L, Rouleau, J, Coppard, N, Meier, T, Chinnery, P F

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Treatment strategies for inherited optic neuropathies: past, present and future by Yu-Wai-Man, P, Votruba, M, Moore, A T, Chinnery, P F

“…Bilateral visual loss secondary to inherited optic neuropathies is an important cause of registrable blindness among children and young adults. The two…”
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Leber hereditary optic neuropathy by Man, P Y W, Turnbull, D M, Chinnery, P F

“…Leber hereditary optic neuropathy (LHON) is a mitochondrial genetic disease that preferentially causes blindness in young adult males, affecting about 1 in 25…”
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Mitochondria by Chinnery, P F, Schon, E A

“…Following the discovery in the early 1960s that mitochondria contain their own DNA (mtDNA), there were two major advances, both in the 1980s: the human mtDNA…”
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A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy by HICKS, Debbie, SARKOZY, Anna, BAILEY, Geraldine, MILLER, James, RADUNOVIC, Aleksander, HUGHES, Paul J, ROBERT, Richard, KRAUSE, Sabine, WALTER, Maggie C, LAVAL, Steven H, STRAUB, Volker, LOCHMÜLLER, Hanns, MUELAS, Nuria, BUSHBY, Kate, KÖEHLER, Katrin, HUEBNER, Angela, HUDSON, Gavin, CHINNERY, Patrick F, BARRESI, Rita, EAGLE, Michelle, POLVIKOSKI, Tuomo

“…The limb-girdle muscular dystrophies are a group of disorders with wide genetic and clinical heterogeneity. Recently, mutations in the ANO5 gene, which encodes…”
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Treatment for mitochondrial disorders by Chinnery, P, Majamaa, K, Turnbull, D, Thorburn, D

“…Mitochondrial respiratory chain disorders are the most prevalent group of inherited neurometabolic diseases. They present with central and peripheral…”
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The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England by Man, P.Y.W., Griffiths, P.G., Brown, D.T., Howell, N., Turnbull, D.M., Chinnery, P.F.

“…We performed the first population-based clinical and molecular genetic study of Leber hereditary optic neuropathy (LHON) in a population of 2,173,800…”
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THE MINIMUM PREVALENCE OF CADASIL IN NORTHEAST ENGLAND by NARAYAN, S. K, GORMAN, G, KALARIA, R. N, FORD, G. A, CHINNERY, P. F

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The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy by Majander, A, Robson, A G, João, C, Holder, G E, Chinnery, P F, Moore, A T, Votruba, M, Stockman, A, Yu-Wai-Man, P

“…Leber inherited optic neuropathy (LHON) is characterized by subacute bilateral loss of central vision due to dysfunction and loss of retinal ganglion cells…”
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Random Intracellular Drift Explains the Clonal Expansion of Mitochondrial DNA Mutations with Age by Elson, J.L., Samuels, D.C., Turnbull, D.M., Chinnery, P.F.

“…Human tissues acquire somatic mitochondrial DNA (mtDNA) mutations with age. Very high levels of specific mtDNA mutations accumulate within individual cells,…”
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The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO by FRATTER, C, GORMAN, G. S, RAHMAN, S, OMER, S. E, KLOPSTOCK, T, SCHOSER, B, KORNBLUM, C, CZERMIN, B, LECKY, B, BLAKELY, E. L, CRAIG, K, CHINNERY, P. F, STEWART, J. D, TURNBULL, D. M, HORVATH, R, TAYLOR, R. W, BUDDLES, M, SMITH, C, EVANS, J, SELLER, A, POULTON, J, ROBERTS, M, HANNA, M. G

“…Mutations in the Twinkle (PEO1) gene are a recognized cause of autosomal dominant progressive external ophthalmoplegia (adPEO), resulting in the accumulation…”
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The inheritance of pathogenic mitochondrial DNA mutations by Cree, L.M., Samuels, D.C., Chinnery, P.F.

“…Mitochondrial DNA mutations cause disease in >1 in 5000 of the population, and ∼1 in 200 of the population are asymptomatic carriers of a pathogenic mtDNA…”
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The Pedigree Rate of Sequence Divergence in the Human Mitochondrial Genome: There Is a Difference Between Phylogenetic and Pedigree Rates by Howell, Neil, Smejkal, Christy Bogolin, Mackey, D.A., Chinnery, P.F., Turnbull, D.M., Herrnstadt, Corinna

“…We have extended our previous analysis of the pedigree rate of control-region divergence in the human mitochondrial genome. One new germline mutation in the…”
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Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA by Turnbull, Douglass M, Andrews, Richard M, Kubacka, Iwona, Chinnery, Patrick F, Lightowlers, Robert N, Howell, Neil

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Clinical features of hereditary spastic paraplegia due to spastin mutation by MCDERMOTT, C. J, BURNESS, C. E, SHAW, P. J, KIRBY, J, COX, L. E, RAO, D. G, HEWAMADDUMA, C, SHARRACK, B, HADJIVASSILIOU, M, CHINNERY, P. F, DALTON, A

“…Mutations in the spastin gene are the commonest cause of hereditary spastic paraparesis (HSP), accounting for up to 40% of autosomal dominant cases. The…”
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OPA1 increases the risk of normal but not high tension glaucoma by Yu-Wai-Man, P, Stewart, J D, Hudson, G, Andrews, R M, Griffiths, P G, Birch, M K, Chinnery, P F

“…Primary open angle glaucoma is a progressive optic neuropathy characterised by the selective loss of retinal ganglion cells, pathological optic disc cupping…”
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