PMC Links for Books (Select 1474604) - PMC

Robert W. Taylor, Angela Pyle, Helen Griffin, Emma L. Blakely, Jennifer Duff, Langping He, Tania Smertenko, Charlotte L. Alston, Vivienne C. Neeve, Andrew Best, John W. Yarham, Janbernd Kirschner, Ulrike Schara, Beril Talim, Haluk Topaloglu, Ivo Baric, Elke Holinski-Feder, Angela Abicht, Birgit Czermin, Stephanie Kleinle, Andrew A.M. Morris, Grace Vassallo, Grainne S. Gorman, Venkateswaran Ramesh, Douglass M. Turnbull, Mauro Santibanez-Koref, Robert McFarland, Rita Horvath, Patrick F. Chinnery

JAMA. Author manuscript; available in PMC 2019 Jun 11.

Published in final edited form as: JAMA. 2014 Jul 2; 312(1): 68–77. doi: 10.1001/jama.2014.7184

PMCID:: PMC6558267

Article PDF–703K

Select item 56439675.

NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect

Fabian Baertling, Laura Sánchez-Caballero, Mariël A M van den Brand, Liesbeth T Wintjes, Maaike Brink, Frans A van den Brandt, Callum Wilson, Richard J T Rodenburg, Leo G J Nijtmans

Eur J Hum Genet. 2017 Nov; 25(11): 1273–1277. Published online 2017 Aug 30. doi: 10.1038/ejhg.2017.133

PMCID:: PMC5643967

Article PDF–824K

Select item 55791546.

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

Erika Ogawa, Masaru Shimura, Takuya Fushimi, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Mika Ishige, Tatsuo Fuchigami, Taro Yamazaki, Masato Mori, Masakazu Kohda, Yoshihito Kishita, Yasushi Okazaki, Shori Takahashi, Akira Ohtake, Kei Murayama

J Inherit Metab Dis. 2017; 40(5): 685–693. Published online 2017 Apr 20. doi: 10.1007/s10545-017-0042-6

PMCID:: PMC5579154

Article PDF–393K

Select item 55443917.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

Nicole J. Lake, Bryn D. Webb, David A. Stroud, Tara R. Richman, Benedetta Ruzzenente, Alison G. Compton, Hayley S. Mountford, Juliette Pulman, Coralie Zangarelli, Marlene Rio, Nathalie Bodaert, Zahra Assouline, Mingma D. Sherpa, Eric E. Schadt, Sander M. Houten, James Byrnes, Elizabeth M. McCormick, Zarazuela Zolkipli-Cunningham, Katrina Haude, Zhancheng Zhang, Kyle Retterer, Renkui Bai, Sarah E. Calvo, Vamsi K. Mootha, John Christodoulou, Agnes Rötig, Aleksandra Filipovska, Ingrid Cristian, Marni J. Falk, Metodi D. Metodiev, David R. Thorburn

Am J Hum Genet. 2017 Aug 3; 101(2): 239–254. Published online 2017 Aug 3. doi: 10.1016/j.ajhg.2017.07.005

Correction in:: Am J Hum Genet. 2018 Apr 5; 102(4): 713.

PMCID:: PMC5544391

Article PDF–2.8M

Select item 55023108.

De novo mtDNA point mutations are common and have a low recurrence risk

Suzanne C E H Sallevelt, Christine E M de Die-Smulders, Alexandra T M Hendrickx, Debby M E I Hellebrekers, Irenaeus F M de Coo, Charlotte L Alston, Charlotte Knowles, Robert W Taylor, Robert McFarland, Hubert J M Smeets

J Med Genet. 2017 Feb; 54(2): 73–83. Published online 2016 Jul 22. doi: 10.1136/jmedgenet-2016-103876

PMCID:: PMC5502310

Article PDF–594K

Select item 54304269.

Ketogenic diet attenuates hepatopathy in mouse model of respiratory chain complex III deficiency caused by a Bcs1l mutation

Janne Purhonen, Jayasimman Rajendran, Matthias Mörgelin, Kristiina Uusi-Rauva, Shintaro Katayama, Kaarel Krjutskov, Elisabet Einarsdottir, Vidya Velagapudi, Juha Kere, Matti Jauhiainen, Vineta Fellman, Jukka Kallijärvi

Sci Rep. 2017; 7: 957. Published online 2017 Apr 19. doi: 10.1038/s41598-017-01109-4

PMCID:: PMC5430426

Article PDF–15M

Select item 534785410.

Leigh map: A novel computational diagnostic resource for mitochondrial disease

Joyeeta Rahman, Alberto Noronha, Ines Thiele, Shamima Rahman

Ann Neurol. 2017 Jan; 81(1): 9–16. Published online 2017 Jan 24. doi: 10.1002/ana.24835

PMCID:: PMC5347854

Article PDF–434K

Select item 513184311.

Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease

Louise A. Hyslop, Paul Blakeley, Lyndsey Craven, Jessica Richardson, Norah M.E. Fogarty, Elpida Fragouli, Mahdi Lamb, Sissy E. Wamaitha, Nilendran Prathalingam, Qi Zhang, Hannah O’Keefe, Yuko Takeda, Lucia Arizzi, Samer Alfarawati, Helen A. Tuppen, Laura Irving, Dimitrios Kalleas, Meenakshi Choudhary, Dagan Wells, Alison P Murdoch, Douglass M. Turnbull, Kathy K. Niakan, Mary Herbert

Nature. Author manuscript; available in PMC 2016 Dec 8.

Published in final edited form as: Nature. 2016 Jun 8; 534(7607): 383–386. Published online 2016 Jun 8. doi: 10.1038/nature18303

Correction in:: Nature. 2016 Jul 27

PMCID:: PMC5131843

Article PDF–5.9M

Select item 509065712.

Modified Atkins diet induces subacute selective ragged‐red‐fiber lysis in mitochondrial myopathy patients

Sofia Ahola, Mari Auranen, Pirjo Isohanni, Satu Niemisalo, Niina Urho, Jana Buzkova, Vidya Velagapudi, Nina Lundbom, Antti Hakkarainen, Tiina Muurinen, Päivi Piirilä, Kirsi H Pietiläinen, Anu Suomalainen

EMBO Mol Med. 2016 Nov; 8(11): 1234–1247. Published online 2016 Sep 19. doi: 10.15252/emmm.201606592

PMCID:: PMC5090657

Article PDF–5.5M

Select item 502751513.

Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs

Payam A. Gammage, Edoardo Gaude, Lindsey Van Haute, Pedro Rebelo-Guiomar, Christopher B. Jackson, Joanna Rorbach, Marcin L. Pekalski, Alan J. Robinson, Marine Charpentier, Jean-Paul Concordet, Christian Frezza, Michal Minczuk

Nucleic Acids Res. 2016 Sep 19; 44(16): 7804–7816. Published online 2016 Jul 27. doi: 10.1093/nar/gkw676

PMCID:: PMC5027515

Article PDF–1.1M

Select item 500980814.

SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome

Alexandre Janer, Julien Prudent, Vincent Paupe, Somayyeh Fahiminiya, Jacek Majewski, Nicolas Sgarioto, Christine Des Rosiers, Anik Forest, Zhen‐Yuan Lin, Anne‐Claude Gingras, Grant Mitchell, Heidi M McBride, Eric A Shoubridge

EMBO Mol Med. 2016 Sep; 8(9): 1019–1038. Published online 2016 Jul 7. doi: 10.15252/emmm.201506159

PMCID:: PMC5009808

Article PDF–4.7M

Select item 500085215.

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M. Enns, Russell Saneto, Irina Anselm, Bruce H. Cohen, Marni J. Falk, Carol Greene, Andrea L. Gropman, Richard Haas, Michio Hirano, Phil Morgan, Katherine Sims, Mark Tarnopolsky, Johan L.K. Van Hove, Lynne Wolfe, Salvatore DiMauro

Genet Med. Author manuscript; available in PMC 2016 Sep 1.

Published in final edited form as: Genet Med. 2015 Sep; 17(9): 689–701. Published online 2014 Dec 11. doi: 10.1038/gim.2014.177

PMCID:: PMC5000852

Article PDF–386K

Select item 499245616.

Mitochondrial protein interaction mapping identifies new regulators of respiratory chain function

Brendan J. Floyd, Emily M. Wilkerson, Mike T. Veling, Catie E. Minogue, Chuanwu Xia, Emily T. Beebe, Russell L. Wrobel, Holly Cho, Laura S. Kremer, Charlotte L. Alston, Katarzyna A. Gromek, Brendan K. Dolan, Arne Ulbrich, Jonathan A. Stefely, Sarah L. Bohl, Kelly M. Werner, Adam Jochem, Michael S. Westphall, Jarred W. Rensvold, Robert W. Taylor, Holger Prokisch, Jung-Ja P. Kim, Joshua J. Coon, David J. Pagliarini

Mol Cell. Author manuscript; available in PMC 2017 Aug 18.

Published in final edited form as: Mol Cell. 2016 Aug 18; 63(4): 621–632. Published online 2016 Aug 4. doi: 10.1016/j.molcel.2016.06.033

PMCID:: PMC4992456

Article PDF–1.7M

Select item 498846517.

Novel mutation in mitochondrial DNA in 2 siblings with Leigh syndrome

Aravindhan Veerapandiyan, Amit Chaudhari, Christin M. Traba, Xue Ming

Neurol Genet. 2016 Oct; 2(5): e99. Published online 2016 Aug 16. doi: 10.1212/NXG.0000000000000099

PMCID:: PMC4988465

Article PDF–153K

Select item 486074218.

Hypoxia as a Therapy for Mitochondrial Disease

Isha H. Jain, Luca Zazzeron, Rahul Goli, Kristen Alexa, Stephanie Schatzman-Bone, Harveen Dhillon, Olga Goldberger, Jun Peng, Ophir Shalem, Neville E. Sanjana, Feng Zhang, Wolfram Goessling, Warren M. Zapol, Vamsi K. Mootha

Science. Author manuscript; available in PMC 2016 Oct 1.

Published in final edited form as: Science. 2016 Apr 1; 352(6281): 54–61. Published online 2016 Feb 25. doi: 10.1126/science.aad9642

PMCID:: PMC4860742

Article PDF–1.2M

Select item 485169219.

The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome

Marta Kanabus, Elisa Fassone, Sean David Hughes, Sara Farahi Bilooei, Tricia Rutherford, Maura O’ Donnell, Simon J. R. Heales, Shamima Rahman

J Inherit Metab Dis. 2016; 39(3): 415–426. Published online 2016 Apr 14. doi: 10.1007/s10545-016-9930-4

PMCID:: PMC4851692

Article PDF–824K

Select item 475537520.

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9

Katharina Danhauser, Diran Herebian, Tobias B Haack, Richard J Rodenburg, Tim M Strom, Thomas Meitinger, Dirk Klee, Ertan Mayatepek, Holger Prokisch, Felix Distelmaier

Eur J Hum Genet. 2016 Mar; 24(3): 450–454. Published online 2015 Jun 17. doi: 10.1038/ejhg.2015.133

PMCID:: PMC4755375

Article PDF–1004K

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