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Items: 1 to 20 of 52

1.
Expert panel curation of 113 primary mitochondrial disease genes for the Leigh syndrome spectrum
Elizabeth M. McCormick, Kierstin Keller, Julie P. Taylor, Alison J. Coffey, Lishuang Shen, Danuta Krotoski, Brian Harding, NICHD ClinGen U24 Mitochondrial Disease Gene Curation Expert Panel, Xiaowu Gai, Marni J. Falk, Zarazuela Zolkipli-Cunningham, Shamima Rahman
Ann Neurol. Author manuscript; available in PMC 2024 Oct 1.
Published in final edited form as: Ann Neurol. 2023 Oct; 94(4): 696–712. Published online 2023 Aug 12. doi: 10.1002/ana.26716
PMCID:
PMC10763625
AbstractArticlePDF–1.0M
2.
Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era
Manuela Schubert Baldo, Célia Nogueira, Cristina Pereira, Patrícia Janeiro, Sara Ferreira, Charles M. Lourenço, Anabela Bandeira, Esmeralda Martins, Marina Magalhães, Esmeralda Rodrigues, Helena Santos, Ana Cristina Ferreira, Laura Vilarinho
Genes (Basel) 2023 Aug; 14(8): 1536. Published online 2023 Jul 27. doi: 10.3390/genes14081536
PMCID:
PMC10454233
AbstractArticlePDF–537K
3.
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6
Austin A. Larson, Shanti Balasubramaniam, John Christodoulou, Lindsay C. Burrage, Ronit Marom, Brett H. Graham, George A. Diaz, Emma Glamuzina, Natalie Hauser, Bryce Heese, Gabriella Horvath, Andre Mattman, Clara van Karnebeek, S. Lane Rutledge, Amy Williamson, Lissette Estrella, Johan K.L. Van Hove, James D. Weisfeld-Adams
Mitochondrion. Author manuscript; available in PMC 2023 May 22.
Published in final edited form as: Mitochondrion. 2019 Jan; 44: 58–64. Published online 2018 Jan 4. doi: 10.1016/j.mito.2018.01.001
PMCID:
PMC10201920
AbstractArticlePDF–312K
4.
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines
Eleni Mavraki, Robyn Labrum, Kate Sergeant, Charlotte L. Alston, Cathy Woodward, Conrad Smith, Charlotte V. Y. Knowles, Yogen Patel, Philip Hodsdon, Jack P. Baines, Emma L. Blakely, James Polke, Robert W. Taylor, Carl Fratter
Eur J Hum Genet. 2023 Feb; 31(2): 148–163. Published online 2022 Dec 13. doi: 10.1038/s41431-022-01249-w
PMCID:
PMC9905091
AbstractArticlePDF–1.3M
5.
Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia
Denis Kistol, Polina Tsygankova, Tatiana Krylova, Igor Bychkov, Yulia Itkis, Ekaterina Nikolaeva, Svetlana Mikhailova, Maria Sumina, Natalia Pechatnikova, Sergey Kurbatov, Fatima Bostanova, Ochir Migiaev, Ekaterina Zakharova
Int J Mol Sci. 2023 Jan; 24(2): 1597. Published online 2023 Jan 13. doi: 10.3390/ijms24021597
PMCID:
PMC9865855
AbstractArticlePDF–2.4M
6.
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression
Albert Z. Lim, Yi Shiau Ng, Alasdair Blain, Cecilia Jiminez‐Moreno, Charlotte L. Alston, Victoria Nesbitt, Louise Simmons, Saikat Santra, Evangeline Wassmer, Emma L. Blakely, Doug M. Turnbull, Robert W. Taylor, Gráinne S. Gorman, Robert McFarland
Ann Neurol. 2022 Jan; 91(1): 117–130. Published online 2021 Nov 12. doi: 10.1002/ana.26260
PMCID:
PMC9534328
AbstractArticlePDF–2.0M
7.
Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis
Ryan L. Davis, Kishore R. Kumar, Clare Puttick, Christina Liang, Kate E. Ahmad, Fabienne Edema-Hildebrand, Jin-Sung Park, Andre E. Minoche, Velimir Gayevskiy, Amali C. Mallawaarachchi, John Christodoulou, Deborah Schofield, Marcel E. Dinger, Mark J. Cowley, Carolyn M. Sue
Neurology. 2022 Aug 16; 99(7): e730–e742. doi: 10.1212/WNL.0000000000200745
PMCID:
PMC9484606
AbstractArticlePDF–1001K
8.
Efficacy and Safety of the Ketogenic Diet for Mitochondrial Disease With Epilepsy: A Prospective, Open-labeled, Controlled Study
Lijuan Huang, Hua Li, Jianmin Zhong, Liming Yang, Guohong Chen, Dong Wang, Guo Zheng, Hong Han, Xiong Han, Yiqin Long, Xu Wang, Jianmin Liang, Mei Yu, Xiaoyun Shen, Mengke Fan, Fang Fang, Jianxiang Liao, Dan Sun
Front Neurol. 2022; 13: 880944. Published online 2022 Aug 1. doi: 10.3389/fneur.2022.880944
PMCID:
PMC9377015
AbstractArticlePDF–541K
9.
Early developmental delay in Leigh Syndrome spectrum disorders is associated with poor clinical prognosis
Rory J Tinker, Marni J. Falk, Amy Goldstein, Ibrahim George-Sankoh, Rui Xiao, Laura Adang, Rebecca Ganetzky
Mol Genet Metab. Author manuscript; available in PMC 2023 Apr 1.
Published in final edited form as: Mol Genet Metab. 2022 Apr; 135(4): 342–349. Published online 2022 Feb 19. doi: 10.1016/j.ymgme.2022.02.006
PMCID:
PMC8965798
AbstractArticlePDF–941K
10.
Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening
Ryan H. Peretz, Nicholas Ah Mew, Hilary J. Vernon, Rebecca D. Ganetzky
Mol Genet Metab. Author manuscript; available in PMC 2022 Sep 1.
Published in final edited form as: Mol Genet Metab. 2021 Sep-Oct; 134(1-2): 37–42. Published online 2021 Jun 24. doi: 10.1016/j.ymgme.2021.06.007
PMCID:
PMC8578202
AbstractArticlePDF–410K
11.
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
Katherine R Schon, Rita Horvath, Wei Wei, Claudia Calabrese, Arianna Tucci, Kristina Ibañez, Thiloka Ratnaike, Robert D S Pitceathly, Enrico Bugiardini, Rosaline Quinlivan, Michael G Hanna, Emma Clement, Emma Ashton, John A Sayer, Paul Brennan, Dragana Josifova, Louise Izatt, Carl Fratter, Victoria Nesbitt, Timothy Barrett, Dominic J McMullen, Audrey Smith, Charulata Deshpande, Sarah F Smithson, Richard Festenstein, Natalie Canham, Mark Caulfield, Henry Houlden, Shamima Rahman(, Patrick F Chinnery, Genomics England Research Consortium, John C Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R Boustred, Helen Brittain, Mark J Caulfield, Georgia C Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J P Hubbard, Rob Jackson, Louise J Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E A Leigh, Ivonne U S Leong, Javier F Lopez, Fiona Maleady-Crowe, Meriel McEntegart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C Need, Peter O’Donovan, Chris A Odhams, Christine Patch, Mariana Buonerimo Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H Scott, Afshan Siddiq, Alexander Sieghart, Samuel C Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R A Thomas, Simon R Thompson, Arianna Tucci, Matthew J Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M Wood
BMJ. 2021; 375: e066288. Published online 2021 Nov 4. doi: 10.1136/bmj-2021-066288
PMCID:
PMC8565085
AbstractArticle
12.
K.Vita: a feasibility study of a blend of medium chain triglycerides to manage drug-resistant epilepsy
Natasha E Schoeler, Michael Orford, Umesh Vivekananda, Zoe Simpson, Baheerathi Van de Bor, Hannah Smith, Simona Balestrini, Tricia Rutherford, Erika Brennan, James McKenna, Bridget Lambert, Tom Barker, Richard Jackson, Robin S B Williams, Sanjay M Sisodiya, Simon Eaton, Simon J R Heales, J Helen Cross, Matthew C Walker, K.Vita Study Group
Brain Commun. 2021; 3(4): fcab160. Published online 2021 Jul 23. doi: 10.1093/braincomms/fcab160
PMCID:
PMC8557697
AbstractArticlePDF–783K
13.
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases
Anna Ardissone, Claudio Bruno, Daria Diodato, Alice Donati, Daniele Ghezzi, Eleonora Lamantea, Costanza Lamperti, Michelangelo Mancuso, Diego Martinelli, Guido Primiano, Elena Procopio, Anna Rubegni, Filippo Santorelli, Maria Cristina Schiaffino, Serenella Servidei, Flavia Tubili, Enrico Bertini, Isabella Moroni
Orphanet J Rare Dis. 2021; 16: 413. Published online 2021 Oct 9. doi: 10.1186/s13023-021-02029-3
PMCID:
PMC8501644
AbstractArticlePDF–1.4M
14.
Moving towards clinical trials for mitochondrial diseases
Robert D.S. Pitceathly, Nandaki Keshavan, Joyeeta Rahman, Shamima Rahman
J Inherit Metab Dis. 2021 Jan; 44(1): 22–41. Published online 2020 Sep 2. doi: 10.1002/jimd.12281
PMCID:
PMC8432143
AbstractArticlePDF–3.1M
15.
Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety
Heidi Zweers, Annemiek M. J. van Wegberg, Mirian C. H. Janssen, Saskia B. Wortmann
Orphanet J Rare Dis. 2021; 16: 295. Published online 2021 Jul 3. doi: 10.1186/s13023-021-01927-w
Correction in:
Orphanet J Rare Dis. 2021; 16: 397.
PMCID:
PMC8254320
AbstractArticlePDF–1.3M
16.
MELAS/LS Overlap Syndrome Associated With Mitochondrial DNA Mutations: Clinical, Genetic, and Radiological Studies
Yanping Wei, Yan Huang, Yingmai Yang, Min Qian
Front Neurol. 2021; 12: 648740. Published online 2021 May 7. doi: 10.3389/fneur.2021.648740
PMCID:
PMC8137909
AbstractArticlePDF–813K
17.
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel-Guitton, John Christodoulou, Bruce H. Cohen, David Dimmock, Gregory M. Enns, Marni J. Falk, Annette Feigenbaum, Richard E. Frye, Jaya Ganesh, David Griesemer, Richard Haas, Rita Horvath, Mark Korson, Michael C. Kruer, Michelangelo Mancuso, Shana McCormack, Marie Josee Raboisson, Tyler Reimschisel, Ramona Salvarinova, Russell P. Saneto, Fernando Scaglia, John Shoffner, Peter W. Stacpoole, Carolyn M. Sue, Mark Tarnopolsky, Clara Van Karnebeek, Lynne A. Wolfe, Zarazuela Zolkipli Cunningham, Shamima Rahman, Patrick F. Chinnery
Genet Med. Author manuscript; available in PMC 2021 Jan 13.
Published in final edited form as: Genet Med. 2017 Dec; 19(12): 10.1038/gim.2017.107. Published online 2017 Jul 27. doi: 10.1038/gim.2017.107
PMCID:
PMC7804217
AbstractArticlePDF–495K
18.
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis
Erika Ogawa, Takuya Fushimi, Minako Ogawa‐Tominaga, Masaru Shimura, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Mika Ishige, Tatsuo Fuchigami, Taro Yamazaki, Yoshihito Kishita, Masakazu Kohda, Atsuko Imai‐Okazaki, Yasushi Okazaki, Ichiro Morioka, Akira Ohtake, Kei Murayama
J Inherit Metab Dis. 2020 Jul; 43(4): 819–826. Published online 2020 Feb 10. doi: 10.1002/jimd.12218
PMCID:
PMC7383885
AbstractArticlePDF–1.3M
19.
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus
Maaike C. De Vries, David A. Brown, Mitchell E. Allen, Laurence Bindoff, Gráinne S. Gorman, Amel Karaa, Nandaki Keshavan, Costanza Lamperti, Robert McFarland, Yi Shiau Ng, Mar O'Callaghan, Robert D. S. Pitceathly, Shamima Rahman, Frans G. M. Russel, Kristin N. Varhaug, Tom J. J. Schirris, Michelangelo Mancuso
J Inherit Metab Dis. 2020 Jul; 43(4): 800–818. Published online 2020 Feb 7. doi: 10.1002/jimd.12196
PMCID:
PMC7383489
AbstractArticlePDF–2.3M
20.
Treatment for mitochondrial disorders
Gerald Pfeffer, Kari Majamaa, Douglass M Turnbull, David Thorburn, Patrick F Chinnery, Cochrane Neuromuscular Group
Cochrane Database Syst Rev. 2012 Apr; 2012(4): CD004426. Published online 2012 Apr 18. doi: 10.1002/14651858.CD004426.pub3
PMCID:
PMC7201312
AbstractArticlePDF–402K

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