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Neil Howell

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Neil Howell; Joanna Elson; Corinna Howell; Douglass M Turnbull
Relative rates of evolution in the coding and control regions of African mtDNAs.
Gavin Hudson; Valerio Carelli; Liesbeth Spruijt; Mike Gerards; Catherine Mowbray; Alessandro Achilli; Angela Pyle; Joanna Elson; Neil Howell; Chiara La Morgia; Maria Lucia Valentino; Kirsi Huoponen; Marja-Liisa Savontaus; Eeva Nikoskelainen; Alfredo Sadun; Solange R Salomao; Rubens Belfort; Philip Griffiths; P Y W Man; René F M de Coo; Rita Horvath; Massimo Zeviani; H J M Smeets; Antonio Torroni; Patrick F Chinnery
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.
Joanna Elson; Kari Majamaa; Neil Howell; Patrick F Chinnery
Associating mitochondrial DNA variation with complex traits.

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2007: Neil Howell; Joanna Elson; Corinna Howell; Douglass M Turnbull
Relative rates of evolution in the coding and control regions of African mtDNAs.
Molecular biology and evolution 2007;24(10):2213-21.
2007: Gavin Hudson; Valerio Carelli; Liesbeth Spruijt; Mike Gerards; Catherine Mowbray; Alessandro Achilli; Angela Pyle; Joanna Elson; Neil Howell; Chiara La Morgia; Maria Lucia Valentino; Kirsi Huoponen; Marja-Liisa Savontaus; Eeva Nikoskelainen; Alfredo Sadun; Solange R Salomao; Rubens Belfort; Philip Griffiths; P Y W Man; René F M de Coo; Rita Horvath; Massimo Zeviani; H J M Smeets; Antonio Torroni; Patrick F Chinnery
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.
American journal of human genetics 2007;81(2):228-33.
2007: Joanna Elson; Kari Majamaa; Neil Howell; Patrick F Chinnery
Associating mitochondrial DNA variation with complex traits.
American journal of human genetics 2007;80(2):378-82; author reply 382-3.
2006: Joanna Elson; Corinna Herrnstadt; Gwen Preston; Leon J Thal; Christopher M Morris; J A Edwardson; M Flint Beal; Douglass M Turnbull; Neil Howell
Does the mitochondrial genome play a role in the etiology of Alzheimer's disease?
Human genetics 2006;119(3):241-54.
2006: Doron M Behar; Ene Metspalu; Toomas Kivisild; Alessandro Achilli; Yarin Hadid; Shay Tzur; Luisa Pereira; António Amorim; Lluis Quintana-Murci; Kari Majamaa; Corinna Herrnstadt; Neil Howell; Oleg Balanovsky; Ildus Kutuev; Andrey Pshenichnov; David Gurwitz; Batsheva Bonne-Tamir; Antonio Torroni; Richard Villems; Karl Skorecki
The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event.
American journal of human genetics 2006;78(3):487-97.
2006: A L Mitchell; Joanna Elson; Neil Howell; Robert W Taylor; D M Turnbull
Sequence variation in mitochondrial complex I genes: mutation or polymorphism?
Journal of medical genetics 2006;43(2):175-9.
2005: Simon V Baudouin; David Saunders; Watcharee Tiangyou; Joanna Elson; Jayne Poynter; Angela Pyle; Sharon M Keers; Douglass M Turnbull; Neil Howell; Patrick F Chinnery
Mitochondrial DNA and survival after sepsis: a prospective study.
Lancet 2005;366(9503):2118-21.
2005: Neil Howell; Joanna Elson; Patrick F Chinnery; Douglass M Turnbull
mtDNA mutations and common neurodegenerative disorders.
Trends in genetics : TIG 2005;21(11):583-6.
2005: Neil Howell; Iwona Kubacka; Sharon M Keers; Douglass M Turnbull; Patrick F Chinnery
Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree.
Human genetics 2005;116(1-2):28-32.
2004: Robert McFarland; Joanna Elson; Robert W Taylor; Neil Howell; Douglass M Turnbull
Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough.
Trends in genetics : TIG 2004;20(12):591-6.
2004: Robert McFarland; R W Taylor; Joanna Elson; R N Lightowlers; D M Turnbull; Neil Howell
Proving pathogenicity: when evolution is not enough.
American journal of medical genetics. Part A 2004;131(1):107-8; author reply 109-10.
2004: Neil Howell; Joanna Elson; Douglass M Turnbull; Corinna Herrnstadt
African Haplogroup L mtDNA sequences show violations of clock-like evolution.
Molecular biology and evolution 2004;21(10):1843-54.
2004: Corinna Herrnstadt; Neil Howell
An evolutionary perspective on pathogenic mtDNA mutations: haplogroup associations of clinical disorders.
Mitochondrion 2004;4(5-6):791-8.
2004: P Y W Man; Neil Howell; D A Mackey; Søren Nørby; Thomas Rosenberg; Douglass M Turnbull; Patrick F Chinnery
Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees.
Journal of medical genetics 2004;41(4):e41.
2004: Robert McFarland; Robert W Taylor; Patrick F Chinnery; Neil Howell; Douglass M Turnbull
A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis.
Neuromuscular disorders : NMD 2004;14(2):162-6.
2004: Joanna Elson; Douglass M Turnbull; Neil Howell
Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selection.
American journal of human genetics 2004;74(2):229-38.
2003: Hans-Jürgen Bandelt; Corinna Herrnstadt; Yong-Gang Yao; Qing-Peng Kong; Toomas Kivisild; Chiara Rengo; Rosaria Scozzari; Martin Richards; Richard Villems; Vincent Macaulay; Neil Howell; Antonio Torroni; Y-P Zhang
Identification of Native American founder mtDNAs through the analysis of complete mtDNA sequences: some caveats.
Annals of human genetics 2003;67(Pt 6):512-24.
2003: Robert W Taylor; Martina T McDonnell; Emma L Blakely; Patrick F Chinnery; Geoffrey A Taylor; Neil Howell; Massimo Zeviani; Egill Briem; Franco Carrara; Douglass M Turnbull
Genotypes from patients indicate no paternal mitochondrial DNA contribution.
Annals of neurology 2003;54(4):521-4.
2003: Corinna Herrnstadt; Gwen Preston; Neil Howell
Errors, phantoms and otherwise, in human mtDNA sequences.
American journal of human genetics 2003;72(6):1585-6.
2003: Neil Howell; Corinna Herrnstadt; Cliff Shults; David A Mackey
Low penetrance of the 14484 LHON mutation when it arises in a non-haplogroup J mtDNA background.
American journal of medical genetics. Part A 2003;119A(2):147-51.
2003: Neil Howell; Roelof-Jan Oostra; Piet A Bolhuis; Liesbeth Spruijt; Lorne A Clarke; David A Mackey; Gwen Preston; Corinna Herrnstadt
Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy.
American journal of human genetics 2003;72(6):1460-9.
2003: Elena Pegoraro; Andrea Vettori; Maria Lucia Valentino; Annamaria Molon; Maria Luisa Mostacciuolo; Neil Howell; Valerio Carelli
X-inactivation pattern in multiple tissues from two Leber's hereditary optic neuropathy (LHON) patients.
American journal of medical genetics. Part A 2003;119A(1):37-40.
2003: Theresa M Wardell; Elaine Ferguson; Patrick F Chinnery; Gillian M Borthwick; Robert W Taylor; Graham Jackson; Alan W Craft; Robert N Lightowlers; Neil Howell; Douglass M Turnbull
Changes in the human mitochondrial genome after treatment of malignant disease.
Mutation research 2003;525(1-2):19-27.
2003: Neil Howell; Christy Bogolin Smejkal; David A Mackey; Patrick F Chinnery; Douglass M Turnbull; Corinna Herrnstadt
The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates.
American journal of human genetics 2003;72(3):659-70.
2003: P Y W Man; Philip G Griffiths; Denise T Brown; Neil Howell; Douglass M Turnbull; Patrick F Chinnery
The epidemiology of Leber hereditary optic neuropathy in the North East of England.
American journal of human genetics 2003;72(2):333-9.
2002: Neil Howell; Neil R Miller; David A Mackey; Anthony Arnold; Corinna Herrnstadt; Isla M Williams; Iwona Kubacka
Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2002;22(4):262-9.
2002: Corinna Herrnstadt; Joanna Elson; Eoin Fahy; Gwen Preston; Douglass M Turnbull; Christen Anderson; Soumitra S Ghosh; Jerrold M Olefsky; M Flint Beal; Robert E Davis; Neil Howell
Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups.
American journal of human genetics 2002;70(5):1152-71.
2002: Corinna Herrnstadt; Gwen Preston; Richard Andrews; Patrick F Chinnery; Robert N Lightowlers; Douglass M Turnbull; Iwona Kubacka; Neil Howell
A high frequency of mtDNA polymorphisms in HeLa cell sublines.
Mutation research 2002;501(1-2):19-28.
2001: Neil Howell; Corinna Herrnstadt; D A Mackey
Different patterns of expansion/contraction during the evolution of an mtDNA simple repeat.
Molecular biology and evolution 2001;18(8):1593-6.
2001: Neil Howell; Iwona Kubacka; Barbara McDonough; A B Hodess; Donald H Harter
mtDNA analysis of Leber hereditary optic neuropathy associated with spondyloepiphyseal dysplasia.
American journal of medical genetics 2001;100(3):219-22.
2001: Patrick F Chinnery; G A Taylor; Neil Howell; Denise T Brown; T J Parsons; Douglass M Turnbull
Point mutations of the mtDNA control region in normal and neurodegenerative human brains.
American journal of human genetics 2001;68(2):529-32.
2001: Patrick F Chinnery; R M Andrews; Douglass M Turnbull; Neil Howell
Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?
American journal of medical genetics 2001;98(3):235-43.
2001: Patrick F Chinnery; Denise T Brown; R M Andrews; R Singh-Kler; P Riordan-Eva; J Lindley; D A Applegarth; Douglass M Turnbull; Neil Howell
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.
Brain : a journal of neurology 2001;124(Pt 1):209-18.
2001: Joanna Elson; Richard M Andrews; Patrick F Chinnery; Robert N Lightowlers; Douglass M Turnbull; Neil Howell
Analysis of European mtDNAs for recombination.
American journal of human genetics 2001;68(1):145-153.
2000: Patrick F Chinnery; David R Thorburn; David Samuels; Sarah White; H M Dahl; Douglass M Turnbull; Robert N Lightowlers; Neil Howell
The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?
Trends in genetics : TIG 2000;16(11):500-5.
2000: Patrick F Chinnery; G A Taylor; Neil Howell; R M Andrews; Christopher M Morris; Robert W Taylor; Ian G McKeith; Robert H Perry; James A Edwardson; Douglass M Turnbull
Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies.
Neurology 2000;55(2):302-4.
2000: Neil Howell; P F Chinnery; S S Ghosh; Eoin Fahy; Douglass M Turnbull
Transmission of the human mitochondrial genome.
Human reproduction (Oxford, England) 2000;15 Suppl 2():235-45.
2000: Neil Howell; C B Smejkal
Persistent heteroplasmy of a mutation in the human mtDNA control region: hypermutation as an apparent consequence of simple-repeat expansion/contraction.
American journal of human genetics 2000;66(5):1589-98.
2000: Neil Howell; S S Ghosh; Eoin Fahy; Laurence A Bindoff
Longitudinal analysis of the segregation of mtDNA mutations in heteroplasmic individuals.
Journal of the neurological sciences 2000;172(1):1-6.
1999: Patrick F Chinnery; P J Zwijnenburg; Mark Walker; Neil Howell; R W Taylor; R N Lightowlers; Laurence A Bindoff; Douglass M Turnbull
Nonrandom tissue distribution of mutant mtDNA.
American journal of medical genetics 1999;85(5):498-501.
1999: Corinna Herrnstadt; W Clevenger; Soumitra S Ghosh; C Anderson; Eoin Fahy; S Miller; Neil Howell; Robert E Davis
A novel mitochondrial DNA-like sequence in the human nuclear genome.
Genomics 1999;60(1):67-77.
1999: Patrick F Chinnery; Neil Howell; Richard M Andrews; Douglass M Turnbull
Mitochondrial DNA analysis: polymorphisms and pathogenicity.
Journal of medical genetics 1999;36(7):505-10.
1999: Patrick F Chinnery; Neil Howell; Richard M Andrews; Douglass M Turnbull
Clinical mitochondrial genetics.
Journal of medical genetics 1999;36(6):425-36.
1999: Neil Howell
Human mitochondrial diseases: answering questions and questioning answers.
International review of cytology 1999;186():49-116.
1998: Patrick F Chinnery; Neil Howell; Robert N Lightowlers; D M Turnbull
Genetic counseling and prenatal diagnosis for mtDNA disease.
American journal of human genetics 1998;63(6):1908-11.
1998: Patrick F Chinnery; Neil Howell; Robert N Lightowlers; Douglass M Turnbull
MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring.
Brain : a journal of neurology 1998;121 ( Pt 10)():1889-94.
1998: Patrick F Chinnery; Douglass M Turnbull; Neil Howell; Richard M Andrews
Mitochondrial DNA mutations and pathogenicity.
Journal of medical genetics 1998;35(8):701-2.
1998: Neil Howell
Leber hereditary optic neuropathy: respiratory chain dysfunction and degeneration of the optic nerve.
Vision research 1998;38(10):1495-504.
1998: D Mackey; Roelof-Jan Oostra; Thomas Rosenberg; Eeva Nikoskelainen; J Poulton; T Barratt; Piet A Bolhuis; S Norby; Marja-Liisa Savontaus; C Chan; Neil Howell
Reply to Hofmann et al.
American journal of human genetics 1998;62(2):492-5.
1997: Neil Howell
Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve.
Vision research 1997;37(24):3495-507.
1997: Robert N Lightowlers; Patrick F Chinnery; Douglass M Turnbull; Neil Howell
Mammalian mitochondrial genetics: heredity, heteroplasmy and disease.
Trends in genetics : TIG 1997;13(11):450-5.
1997: Patrick F Chinnery; Neil Howell; Robert N Lightowlers; Douglass M Turnbull
Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.
Brain : a journal of neurology 1997;120 ( Pt 10)():1713-21.
1997: Robert E Davis; S Miller; Corinna Herrnstadt; Soumitra S Ghosh; Eoin Fahy; L A Shinobu; Douglas Galasko; Leon J Thal; M Flint Beal; Neil Howell; William Davis Parker Jr
Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(9):4526-31.
1997: Neil Howell
Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?
Journal of bioenergetics and biomembranes 1997;29(2):165-73.
1996: Neil Howell; I Kubacka; D A Mackey
How rapidly does the human mitochondrial genome evolve?
American journal of human genetics 1996;59(3):501-9.
1996: Soumitra S Ghosh; Eoin Fahy; Ivan bodis-wollner; JEROME SHERMAN; Neil Howell
Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing.
American journal of human genetics 1996;58(2):325-34.
1996: Neil Howell; I Kubacka; R Smith; F Frerman; Janice K Parks; William Davis Parker Jr
Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease.
Neurology 1996;46(1):219-22.
1995: Andrew A M Morris; Robert W Taylor; Mark A Birch-Machin; M J Jackson; Malcolm G Coulthard; Laurence A Bindoff; R J Welch; Neil Howell; Douglass M Turnbull
Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain.
Pediatric nephrology (Berlin, Germany) 1995;9(4):407-11.
1995: Neil Howell; I Kubacka; S Halvorson; B Howell; D A McCullough; D Mackey
Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees.
Genetics 1995;140(1):285-302.
1994: Neil Howell; M Xu; S Halvorson; Ivan bodis-wollner; JEROME SHERMAN
A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation.
American journal of human genetics 1994;55(1):203-6.
1993: Neil Howell; D E Robertson
Electrochemical and spectral analysis of the long-range interactions between the Qo and Qi sites and the heme prosthetic groups in ubiquinol-cytochrome c oxidoreductase.
Biochemistry 1993;32(41):11162-72.
1993: Neil Howell; S Halvorson; J Burns; D A McCullough; J Paulton
When does bilateral optic atrophy become Leber hereditary optic neuropathy?
American journal of human genetics 1993;53(4):959-63.
1993: Laurence A Bindoff; Neil Howell; Joanna Poulton; D A McCullough; K J Morten; Robert N Lightowlers; Douglass M Turnbull; K Weber
Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism.
The Journal of biological chemistry 1993;268(26):19559-64.
1993: Neil Howell; I Kubacka
Sequence analysis of mitochondrial chloramphenicol resistance mutations in Chinese hamster cells.
Mammalian genome : official journal of the International Mammalian Genome Society 1993;4(5):271-5.
1993: Neil Howell; I Kubacka; S Halvorson; D Mackey
Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene.
Genetics 1993;133(1):133-6.
1992: Neil Howell; S Halvorson; I Kubacka; D A McCullough; Laurence A Bindoff; Douglass M Turnbull
Mitochondrial gene segregation in mammals: is the bottleneck always narrow?
Human genetics 1992;90(1-2):117-20.
1992: Neil Howell; D A McCullough; I Kubacka; S Halvorson; D Mackey
The sequence of human mtDNA: the question of errors versus polymorphisms.
American journal of human genetics 1992;50(6):1333-40.
1991: Neil Howell; Laurence A Bindoff; D A McCullough; I Kubacka; Joanna Poulton; D Mackey; L Taylor; Douglass M Turnbull
Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.
American journal of human genetics 1991;49(5):939-50.
1991: Neil Howell; I Kubacka; M Xu; D A McCullough
Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.
American journal of human genetics 1991;48(5):935-42.
1991: Laurence A Bindoff; C Desnuelle; Mark A Birch-Machin; J F Pellissier; G Serratrice; C Dravet; M Bureau; Neil Howell; Douglass M Turnbull
Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study.
Journal of the neurological sciences 1991;102(1):17-24.
1990: Neil Howell; D McCullough
An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene.
American journal of human genetics 1990;47(4):629-34.
1990: Neil Howell
Glycine-231 residue of the mouse mitochondrial protonmotive cytochrome b: mutation to aspartic acid deranges electron transport.
Biochemistry 1990;29(38):8970-7.
1989: Neil Howell
Evolutionary conservation of protein regions in the protonmotive cytochrome b and their possible roles in redox catalysis.
Journal of molecular evolution 1989;29(2):157-69.
1989: Neil Howell; A Lee
Sequence analysis of mouse mitochondrial chloramphenicol-resistant mutants.
Somatic cell and molecular genetics 1989;15(3):237-44.
1988: Neil Howell; K Gilbert
Mutational analysis of the mouse mitochondrial cytochrome b gene.
Journal of molecular biology 1988;203(3):607-18.
1988: Neil Howell; M S Nalty
Mitochondrial chloramphenicol-resistant mutants can have deficiencies in energy metabolism.
Somatic cell and molecular genetics 1988;14(2):185-93.
1987: Neil Howell; M S Nalty
Characterization of mouse nuclear and mitochondrial mutants with increased resistance to cytochrome b inhibitors.
Somatic cell and molecular genetics 1987;13(5):529-37.