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23 results for Leigh+Disease+-+complications

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ArticlesPeer ReviewedFull Text
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh synd...
Author / Creator:Gustafson, Margaret A. ; McCormick, Elizabeth M. ; Perera, Lalith ; Longley, Matthew J. ; Bai, Renkui ; Kong, Jianping ; Dulik, Matthew ; Shen, Lishuang ; Goldstein, Amy C. ; McCormack, Shana E. ; Laskin, Benjamin L. ; Leroy, Bart P. ; Ortiz-Gonzalez, Xilma R. ; Ellington, Meredith G. ; Copeland, William C. ; Falk, Marni J.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2019-09, Vol.14 (9), p.e0221829
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Hyperkinesias in Leigh-like Syndrome with Complex-I Deficiency Due to m.10191T>C in MT-ND3
Author / Creator:Newstead, Shaundra M. ; Finsterer, Josef
Publisher:India: Wolters Kluwer - Medknow
Journal title:Annals of African medicine, 2024-07, Vol.23 (3), p.512-513
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Adult-onset Leigh syndrome with recurrent seizures and peripheral neuropathy due to the 9176T > C mutation: a case report and literature review
Author / Creator:Liao, Yashi ; Lai, Yaxin ; Chen, Xinxin ; Zhao, Shanshan
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2025-03, Vol.25 (1), p.128-7, Article 128
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Frequent recurrence of pancreatitis in a patient with Leigh syndrome
Author / Creator:Nakashima, Kengo ; Ryosuke Bo ; Awano, Hiroyuki ; Nishiyama, Masahiro ; Iijima, Kazumoto
Publisher:Hoboken: John Wiley & Sons, Inc
Journal title:Pediatric investigation, 2022-01, Vol.64 (1)
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Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leig...
Author / Creator:Lu, Mei ; Zhou, Yulin ; Wang, Zengge ; Xia, Zhongmin ; Ren, Jun ; Guo, Qiwei
Publisher:Singapore: Springer Singapore
Journal title:Journal of human genetics, 2019-04, Vol.64 (4), p.297-304
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Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita
Author / Creator:Fukumura, Shinobu ; Ohba, Chihiro ; Watanabe, Toshihide ; Minagawa, Kimio ; Shimura, Masaru ; Murayama, Kei ; Ohtake, Akira ; Saitsu, Hirotomo ; Matsumoto, Naomichi ; Tsutsumi, Hiroyuki
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2015-09, Vol.60 (9), p.509-513
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Perioperative risk assessment for successful kidney transplant in leigh syndrome: a case report
Author / Creator:Ducharlet, Kathryn ; Thyagarajan, Dominic ; Ierino, Francesco ; McMahon, Lawrence P. ; Lee, Darren
Publisher:England: BioMed Central Ltd
Journal title:BMC nephrology, 2018-02, Vol.19 (1), p.23-23, Article 23
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Hypertrichosis in presymptomatic mitochondrial disease
Author / Creator:Baertling, Fabian ; Mayatepek, Ertan ; Distelmaier, Felix
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2013-11, Vol.36 (6), p.1081-1082
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Schizophrenia and Leigh syndrome, a simple comorbidity or the same etiopathogeny: about a case
Author / Creator:Mnif, Leila ; Sellami, Rim ; Masmoudi, Jawaher
Publisher:Uganda: PAMJ-CEPHRI Pan African Medical Journal - Center for Public health Research and Information
Journal title:The Pan African medical journal, 2015-12, Vol.22 (333), p.333-333
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The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White
Author / Creator:Ruiter, E Mariken ; Siers, Marloes H ; van den Elzen, Christa ; van Engelen, Baziel G ; Smeitink, Jan A M ; Rodenburg, Richard J ; Hol, Frans A
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2007-02, Vol.15 (2), p.155-161
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Childhood moyamoya disease accompanying Leigh syndrome
Author / Creator:Cullu, Nesat ; Karakas, Ekrem ; Karakas, Omer ; Deveer, Mehmet ; Calik, Mustafa ; Boyaci, Fatima Nurefsan
Publisher:Pakistan: Knowledge Bylanes
Journal title:Journal of the Pakistan Medical Association, 2013-12, Vol.63 (12), p.1538-1540
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A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family
Author / Creator:Anderson, S. L. ; Chung, W. K. ; Frezzo, J. ; Papp, J. C. ; Ekstein, J. ; DiMauro, S. ; Rubin, B. Y.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2008-12, Vol.31 (Suppl 2), p.461-467
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Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh‐like syndrome
Author / Creator:Zhang, Y. ; Yang, Y. L. ; Sun, F. ; Cai, X. ; Qian, N. ; Yuan, Y. ; Wang, Z. X. ; Qi, Y. ; Xiao, J. X. ; Wang, X. Y. ; Zhang, Y. H. ; Jiang, Y. W. ; Qin, J. ; Wu, X. R.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2007-04, Vol.30 (2), p.265-265
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Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan
Author / Creator:Sudo, Akira ; Honzawa, Shiho ; Nonaka, Ikuya ; Goto, Yu-ichi
Publisher:Tokyo: Springer Japan
Journal title:Journal of human genetics, 2004-02, Vol.49 (2), p.92-96
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Leigh's Disease Associated With a Dorsal Midbrain Syndrome
Author / Creator:West, Stephanie K. ; Connors, Lesley ; Cox, Timothy C. S. ; Coker, Timothy P.
Publisher:United States: SLACK INCORPORATED
Journal title:Journal of pediatric ophthalmology and strabismus, 2009-09, Vol.46 (5), p.304-305
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Adult Leigh syndrome with mitochondrial DNA mutation at 8993
Author / Creator:Nagashima, T. ; Mori, Masamitsu ; Katayama, Katsuyuki ; Nunomura, Mitsuru ; Nishihara, Hiroshi ; Hiraga, Hiroaki ; Tanaka, Shinya ; Goto, Yu-ichi ; Nagashima, Kazuo
Publisher:Berlin: Springer
Journal title:Acta neuropathologica, 1999-04, Vol.97 (4), p.416-422
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Concentric thalamic change on MR of acute necrotising encephalopathy of childhood
Author / Creator:Wang, H.-S.
Publisher:Germany: Springer Nature B.V
Journal title:Neuroradiology, 2003-09, Vol.45 (9), p.661-662
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Case records of the Massachusetts General Hospital. Case 28-2008. An 8-day-old infant with congenital deafness, lethargy, and hypothermia
Author / Creator:Staley, Kevin J ; Sims, Katherine B ; Grant, P Ellen ; Hedley-Whyte, E Tessa
Publisher:United States
Journal title:The New England journal of medicine, 2008, Vol.359 (11), p.1156-1167
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3‐Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease
Author / Creator:Di Rocco, M. ; Caruso, U. ; Moroni, I. ; Lupino, S. ; Lamantea, E. ; Fantasia, A. R. ; Borrone, C. ; Gibson, K. M.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 1999-06, Vol.22 (5), p.593-598
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Anaesthetic management of a patient with Leigh’s syndrome
Author / Creator:Shenkman, Ze’ev ; Krichevski, Igor ; Elpeleg, Orly N. ; Joseph, Adina ; Kadari, Avishag
Publisher:Toronto, ON: Canadian Anesthesiologists' Society
Journal title:Canadian journal of anesthesia, 1997-10, Vol.44 (10), p.1091-1095
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Showing 1 to 20 of 23 results

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Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh synd...

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Hyperkinesias in Leigh-like Syndrome with Complex-I Deficiency Due to m.10191T>C in MT-ND3

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Adult-onset Leigh syndrome with recurrent seizures and peripheral neuropathy due to the 9176T > C mutation: a case report and literature review

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Frequent recurrence of pancreatitis in a patient with Leigh syndrome

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Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leig...

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Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita

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Perioperative risk assessment for successful kidney transplant in leigh syndrome: a case report

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Hypertrichosis in presymptomatic mitochondrial disease

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Schizophrenia and Leigh syndrome, a simple comorbidity or the same etiopathogeny: about a case

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The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White

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Childhood moyamoya disease accompanying Leigh syndrome

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A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family

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Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh‐like syndrome

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Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan

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Leigh's Disease Associated With a Dorsal Midbrain Syndrome

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Adult Leigh syndrome with mitochondrial DNA mutation at 8993

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Concentric thalamic change on MR of acute necrotising encephalopathy of childhood

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Case records of the Massachusetts General Hospital. Case 28-2008. An 8-day-old infant with congenital deafness, lethargy, and hypothermia

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3‐Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease

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Anaesthetic management of a patient with Leigh’s syndrome

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