Leigh syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Leigh syndrome" in English language version.

refsWebsite

Global rank English rank

22nih.gov

4^th place

14doi.org

2^nd place

3worldcat.org

5^th place

2web.archive.org

1^st place

2semanticscholar.org

11^th place

8^th place

2omim.org

4,380^th place

4,305^th place

1ucl.ac.uk

1,306^th place

885^th place

1bmj.com

1,226^th place

1,421^st place

1harvard.edu

18^th place

17^th place

1mitoaction.org

low place

1bbc.co.uk

8^th place

10^th place

bbc.co.uk

Roberts, Michelle (2016-09-27). "First 'three person baby' born using new method". BBC News. Retrieved 2016-09-28.

bmj.com

jmg.bmj.com

Brown, G. K.; Otero, L. J.; LeGris, M.; Brown, R. M. (1994-11-01). "Pyruvate dehydrogenase deficiency". Journal of Medical Genetics. 31 (11): 875–879. doi:10.1136/jmg.31.11.875. ISSN 0022-2593. PMC 1016663. PMID 7853374.

doi.org

Noble, Peter (2018). "Denis Archibald Leigh". Psychiatric Bulletin. 22 (10): 648–9. doi:10.1192/pb.22.10.648.
Murphy, Jerome V (1974). "Leigh Disease: Biochemical Characteristics of the Inhibitor". Archives of Neurology. 31 (4): 220–7. doi:10.1001/archneur.1974.00490400034002.
Murphy, J. V; Craig, L (1975). "Leigh's disease: Significance of the biochemical changes in brain". Journal of Neurology, Neurosurgery, and Psychiatry. 38 (11): 1100–3. doi:10.1136/jnnp.38.11.1100. PMC 492163. PMID 1206418.
Gerards, Mike; Sallevelt, Suzanne C.E.H.; Smeets, Hubert J.M. (March 2016). "Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options". Molecular Genetics and Metabolism. 117 (3): 300–312. doi:10.1016/j.ymgme.2015.12.004. ISSN 1096-7192. PMID 26725255.
Baertling, F; Rodenburg, R. J; Schaper, J; Smeitink, J. A; Koopman, W. J. H; Mayatepek, E; Morava, E; Distelmaier, F (2013). "A guide to diagnosis and treatment of Leigh syndrome". Journal of Neurology, Neurosurgery & Psychiatry. 85 (3): 257–65. doi:10.1136/jnnp-2012-304426. PMID 23772060. S2CID 45323262.
Sofou, Kalliopi; De Coo, Irenaeus F M; Isohanni, Pirjo; Ostergaard, Elsebet; Naess, Karin; De Meirleir, Linda; Tzoulis, Charalampos; Uusimaa, Johanna; De Angst, Isabell B; Lönnqvist, Tuula; Pihko, Helena; Mankinen, Katariina; Bindoff, Laurence A; Tulinius, Már; Darin, Niklas (2014). "A multicenter study on Leigh syndrome: disease course and predictors of survival". Orphanet Journal of Rare Diseases. 9 (1): 52. doi:10.1186/1750-1172-9-52. ISSN 1750-1172. PMC 4021638. PMID 24731534.
Pronicki, M; Matyja, E; Piekutowska-Abramczuk, D; Szymanska-Debinska, T; Karkucinska-Wieckowska, A; Karczmarewicz, E; Grajkowska, W; Kmiec, T; Popowska, E; Sykut-Cegielska, J (2008). "Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease". Journal of Clinical Pathology. 61 (4): 460–6. doi:10.1136/jcp.2007.051060. PMC 2571978. PMID 17908801.
Poole, Olivia V.; Everett, Chris M.; Gandhi, Sonia; Marino, Silvia; Bugiardini, Enrico; Woodward, Cathy; Lam, Amanda; Quinlivan, Ros; Hanna, Michael G.; Pitceathly, Robert D.S. (July 2019). "Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1". Mitochondrion. 47: 294–297. doi:10.1016/j.mito.2019.02.004. PMID 30743023. S2CID 73445211.
Fullerton M, McFarland R, Taylor RW, Alston CL (2020). "The genetic basis of isolated mitochondrial complex II deficiency". Mol Genet Metab. 131 (1–2): 53–65. doi:10.1016/j.ymgme.2020.09.009. PMC 7758838. PMID 33162331.
Brown, G. K.; Otero, L. J.; LeGris, M.; Brown, R. M. (1994-11-01). "Pyruvate dehydrogenase deficiency". Journal of Medical Genetics. 31 (11): 875–879. doi:10.1136/jmg.31.11.875. ISSN 0022-2593. PMC 1016663. PMID 7853374.
Ehinger, Johannes K; Piel, Sarah; Ford, Rhonan; Karlsson, Michael; Sjövall, Fredrik; Frostner, Eleonor Åsander; Morota, Saori; Taylor, Robert W; Turnbull, Doug M; Cornell, Clive; Moss, Steven J; Metzsch, Carsten; Hansson, Magnus J; Fliri, Hans; Elmér, Eskil (2016). "Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency". Nature Communications. 7: 12317. Bibcode:2016NatCo...712317E. doi:10.1038/ncomms12317. PMC 4980488. PMID 27502960.
Oguro, Hiroaki; Iijima, Kenichi; Takahashi, Kazuo; Nagai, Atsushi; Bokura, Hirokazu; Yamaguchi, Shuhei; Kobayashi, Shotai (2004). "Successful Treatment with Succinate in a Patient with MELAS". Internal Medicine. 43 (5): 427–31. doi:10.2169/internalmedicine.43.427. PMID 15206559.
Leigh, D (1951). "Subacute Necrotizing Encephalomyelopathy in an Infant". Journal of Neurology, Neurosurgery & Psychiatry. 14 (3): 216–21. doi:10.1136/jnnp.14.3.216. PMC 499520. PMID 14874135.

dx.doi.org

Gerards, Mike; Sallevelt, Suzanne C.E.H.; Smeets, Hubert J.M. (March 2016). "Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options". Molecular Genetics and Metabolism. 117 (3): 300–312. doi:10.1016/j.ymgme.2015.12.004. ISSN 1096-7192. PMID 26725255.

harvard.edu

ui.adsabs.harvard.edu

Ehinger, Johannes K; Piel, Sarah; Ford, Rhonan; Karlsson, Michael; Sjövall, Fredrik; Frostner, Eleonor Åsander; Morota, Saori; Taylor, Robert W; Turnbull, Doug M; Cornell, Clive; Moss, Steven J; Metzsch, Carsten; Hansson, Magnus J; Fliri, Hans; Elmér, Eskil (2016). "Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency". Nature Communications. 7: 12317. Bibcode:2016NatCo...712317E. doi:10.1038/ncomms12317. PMC 4980488. PMID 27502960.

mitoaction.org

"EPI743 | Mitochondrial Disease Action Committee - MitoAction". Archived from the original on 2013-08-19. Retrieved 2013-07-24.

nih.gov

pubmed.ncbi.nlm.nih.gov

Murphy, J. V; Craig, L (1975). "Leigh's disease: Significance of the biochemical changes in brain". Journal of Neurology, Neurosurgery, and Psychiatry. 38 (11): 1100–3. doi:10.1136/jnnp.38.11.1100. PMC 492163. PMID 1206418.
Gerards, Mike; Sallevelt, Suzanne C.E.H.; Smeets, Hubert J.M. (March 2016). "Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options". Molecular Genetics and Metabolism. 117 (3): 300–312. doi:10.1016/j.ymgme.2015.12.004. ISSN 1096-7192. PMID 26725255.
Baertling, F; Rodenburg, R. J; Schaper, J; Smeitink, J. A; Koopman, W. J. H; Mayatepek, E; Morava, E; Distelmaier, F (2013). "A guide to diagnosis and treatment of Leigh syndrome". Journal of Neurology, Neurosurgery & Psychiatry. 85 (3): 257–65. doi:10.1136/jnnp-2012-304426. PMID 23772060. S2CID 45323262.
Sofou, Kalliopi; De Coo, Irenaeus F M; Isohanni, Pirjo; Ostergaard, Elsebet; Naess, Karin; De Meirleir, Linda; Tzoulis, Charalampos; Uusimaa, Johanna; De Angst, Isabell B; Lönnqvist, Tuula; Pihko, Helena; Mankinen, Katariina; Bindoff, Laurence A; Tulinius, Már; Darin, Niklas (2014). "A multicenter study on Leigh syndrome: disease course and predictors of survival". Orphanet Journal of Rare Diseases. 9 (1): 52. doi:10.1186/1750-1172-9-52. ISSN 1750-1172. PMC 4021638. PMID 24731534.
Pronicki, M; Matyja, E; Piekutowska-Abramczuk, D; Szymanska-Debinska, T; Karkucinska-Wieckowska, A; Karczmarewicz, E; Grajkowska, W; Kmiec, T; Popowska, E; Sykut-Cegielska, J (2008). "Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease". Journal of Clinical Pathology. 61 (4): 460–6. doi:10.1136/jcp.2007.051060. PMC 2571978. PMID 17908801.
Poole, Olivia V.; Everett, Chris M.; Gandhi, Sonia; Marino, Silvia; Bugiardini, Enrico; Woodward, Cathy; Lam, Amanda; Quinlivan, Ros; Hanna, Michael G.; Pitceathly, Robert D.S. (July 2019). "Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1". Mitochondrion. 47: 294–297. doi:10.1016/j.mito.2019.02.004. PMID 30743023. S2CID 73445211.
Fullerton M, McFarland R, Taylor RW, Alston CL (2020). "The genetic basis of isolated mitochondrial complex II deficiency". Mol Genet Metab. 131 (1–2): 53–65. doi:10.1016/j.ymgme.2020.09.009. PMC 7758838. PMID 33162331.
Brown, G. K.; Otero, L. J.; LeGris, M.; Brown, R. M. (1994-11-01). "Pyruvate dehydrogenase deficiency". Journal of Medical Genetics. 31 (11): 875–879. doi:10.1136/jmg.31.11.875. ISSN 0022-2593. PMC 1016663. PMID 7853374.
Ehinger, Johannes K; Piel, Sarah; Ford, Rhonan; Karlsson, Michael; Sjövall, Fredrik; Frostner, Eleonor Åsander; Morota, Saori; Taylor, Robert W; Turnbull, Doug M; Cornell, Clive; Moss, Steven J; Metzsch, Carsten; Hansson, Magnus J; Fliri, Hans; Elmér, Eskil (2016). "Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency". Nature Communications. 7: 12317. Bibcode:2016NatCo...712317E. doi:10.1038/ncomms12317. PMC 4980488. PMID 27502960.
Oguro, Hiroaki; Iijima, Kenichi; Takahashi, Kazuo; Nagai, Atsushi; Bokura, Hirokazu; Yamaguchi, Shuhei; Kobayashi, Shotai (2004). "Successful Treatment with Succinate in a Patient with MELAS". Internal Medicine. 43 (5): 427–31. doi:10.2169/internalmedicine.43.427. PMID 15206559.
Leigh, D (1951). "Subacute Necrotizing Encephalomyelopathy in an Infant". Journal of Neurology, Neurosurgery & Psychiatry. 14 (3): 216–21. doi:10.1136/jnnp.14.3.216. PMC 499520. PMID 14874135.

ncbi.nlm.nih.gov

Murphy, J. V; Craig, L (1975). "Leigh's disease: Significance of the biochemical changes in brain". Journal of Neurology, Neurosurgery, and Psychiatry. 38 (11): 1100–3. doi:10.1136/jnnp.38.11.1100. PMC 492163. PMID 1206418.
Sofou, Kalliopi; De Coo, Irenaeus F M; Isohanni, Pirjo; Ostergaard, Elsebet; Naess, Karin; De Meirleir, Linda; Tzoulis, Charalampos; Uusimaa, Johanna; De Angst, Isabell B; Lönnqvist, Tuula; Pihko, Helena; Mankinen, Katariina; Bindoff, Laurence A; Tulinius, Már; Darin, Niklas (2014). "A multicenter study on Leigh syndrome: disease course and predictors of survival". Orphanet Journal of Rare Diseases. 9 (1): 52. doi:10.1186/1750-1172-9-52. ISSN 1750-1172. PMC 4021638. PMID 24731534.
Pronicki, M; Matyja, E; Piekutowska-Abramczuk, D; Szymanska-Debinska, T; Karkucinska-Wieckowska, A; Karczmarewicz, E; Grajkowska, W; Kmiec, T; Popowska, E; Sykut-Cegielska, J (2008). "Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease". Journal of Clinical Pathology. 61 (4): 460–6. doi:10.1136/jcp.2007.051060. PMC 2571978. PMID 17908801.
Fullerton M, McFarland R, Taylor RW, Alston CL (2020). "The genetic basis of isolated mitochondrial complex II deficiency". Mol Genet Metab. 131 (1–2): 53–65. doi:10.1016/j.ymgme.2020.09.009. PMC 7758838. PMID 33162331.
Brown, G. K.; Otero, L. J.; LeGris, M.; Brown, R. M. (1994-11-01). "Pyruvate dehydrogenase deficiency". Journal of Medical Genetics. 31 (11): 875–879. doi:10.1136/jmg.31.11.875. ISSN 0022-2593. PMC 1016663. PMID 7853374.
Ehinger, Johannes K; Piel, Sarah; Ford, Rhonan; Karlsson, Michael; Sjövall, Fredrik; Frostner, Eleonor Åsander; Morota, Saori; Taylor, Robert W; Turnbull, Doug M; Cornell, Clive; Moss, Steven J; Metzsch, Carsten; Hansson, Magnus J; Fliri, Hans; Elmér, Eskil (2016). "Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency". Nature Communications. 7: 12317. Bibcode:2016NatCo...712317E. doi:10.1038/ncomms12317. PMC 4980488. PMID 27502960.
Leigh, D (1951). "Subacute Necrotizing Encephalomyelopathy in an Infant". Journal of Neurology, Neurosurgery & Psychiatry. 14 (3): 216–21. doi:10.1136/jnnp.14.3.216. PMC 499520. PMID 14874135.

ghr.nlm.nih.gov

"Leigh syndrome". Genetics Home Reference. National Institute of Health. 23 September 2013. Retrieved 16 October 2013.
"MT-ATP6". Genetics Home Reference. NIH. 19 November 2013. Retrieved 25 November 2013.
"SURF1". Genetics Home Reference. NIH. 19 November 2013. Retrieved 25 November 2013.

ninds.nih.gov

"NINDS Leigh's Disease Information Page". National Institute of Neurological Diseases and Stroke. NIH. 16 December 2011. Archived from the original on 3 December 2013. Retrieved 25 November 2013.

omim.org

Online Mendelian Inheritance in Man (OMIM): Leigh Syndrome - 256000
"Leigh Syndrome, French Canadian type". Online Mendelian Inheritance in Man. Johns Hopkins University. 1 December 2011. Retrieved 25 December 2013.

semanticscholar.org

api.semanticscholar.org

Baertling, F; Rodenburg, R. J; Schaper, J; Smeitink, J. A; Koopman, W. J. H; Mayatepek, E; Morava, E; Distelmaier, F (2013). "A guide to diagnosis and treatment of Leigh syndrome". Journal of Neurology, Neurosurgery & Psychiatry. 85 (3): 257–65. doi:10.1136/jnnp-2012-304426. PMID 23772060. S2CID 45323262.
Poole, Olivia V.; Everett, Chris M.; Gandhi, Sonia; Marino, Silvia; Bugiardini, Enrico; Woodward, Cathy; Lam, Amanda; Quinlivan, Ros; Hanna, Michael G.; Pitceathly, Robert D.S. (July 2019). "Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1". Mitochondrion. 47: 294–297. doi:10.1016/j.mito.2019.02.004. PMID 30743023. S2CID 73445211.

ucl.ac.uk

discovery.ucl.ac.uk

Poole, Olivia V.; Everett, Chris M.; Gandhi, Sonia; Marino, Silvia; Bugiardini, Enrico; Woodward, Cathy; Lam, Amanda; Quinlivan, Ros; Hanna, Michael G.; Pitceathly, Robert D.S. (July 2019). "Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1". Mitochondrion. 47: 294–297. doi:10.1016/j.mito.2019.02.004. PMID 30743023. S2CID 73445211.

web.archive.org

"NINDS Leigh's Disease Information Page". National Institute of Neurological Diseases and Stroke. NIH. 16 December 2011. Archived from the original on 3 December 2013. Retrieved 25 November 2013.
"EPI743 | Mitochondrial Disease Action Committee - MitoAction". Archived from the original on 2013-08-19. Retrieved 2013-07-24.

worldcat.org

search.worldcat.org

Gerards, Mike; Sallevelt, Suzanne C.E.H.; Smeets, Hubert J.M. (March 2016). "Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options". Molecular Genetics and Metabolism. 117 (3): 300–312. doi:10.1016/j.ymgme.2015.12.004. ISSN 1096-7192. PMID 26725255.
Sofou, Kalliopi; De Coo, Irenaeus F M; Isohanni, Pirjo; Ostergaard, Elsebet; Naess, Karin; De Meirleir, Linda; Tzoulis, Charalampos; Uusimaa, Johanna; De Angst, Isabell B; Lönnqvist, Tuula; Pihko, Helena; Mankinen, Katariina; Bindoff, Laurence A; Tulinius, Már; Darin, Niklas (2014). "A multicenter study on Leigh syndrome: disease course and predictors of survival". Orphanet Journal of Rare Diseases. 9 (1): 52. doi:10.1186/1750-1172-9-52. ISSN 1750-1172. PMC 4021638. PMID 24731534.
Brown, G. K.; Otero, L. J.; LeGris, M.; Brown, R. M. (1994-11-01). "Pyruvate dehydrogenase deficiency". Journal of Medical Genetics. 31 (11): 875–879. doi:10.1136/jmg.31.11.875. ISSN 0022-2593. PMC 1016663. PMID 7853374.