PMC Links for Books (Select 1468038) - PMC

Select item 78042171.

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

Article PDF–495K

Select item 77742452.

Mitochondrial Medicine Therapies: Rationale, Evidence, and Dosing Guidelines

Isabella Barcelos, Edward Shadiack, Rebecca D. Ganetzky, Marni J. Falk

Curr Opin Pediatr. Author manuscript; available in PMC 2021 Dec 1.

Published in final edited form as: Curr Opin Pediatr. 2020 Dec; 32(6): 707–718. doi: 10.1097/MOP.0000000000000954

PMCID:: PMC7774245

Article PDF–597K

Select item 73834893.

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

Article PDF–2.3M

Select item 67198584.

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 syndromes

Margaret A. Gustafson, Elizabeth M. McCormick, Lalith Perera, Matthew J. Longley, Renkui Bai, Jianping Kong, Matthew Dulik, Lishuang Shen, Amy C. Goldstein, Shana E. McCormack, Benjamin L. Laskin, Bart P. Leroy, Xilma R. Ortiz-Gonzalez, Meredith G. Ellington, William C. Copeland, Marni J. Falk

PLoS One. 2019; 14(9): e0221829. Published online 2019 Sep 3. doi: 10.1371/journal.pone.0221829

PMCID:: PMC6719858

Article PDF–2.9M

Select item 58655375.

Endocrine Disorders in Primary Mitochondrial Disease

Iman S Al-Gadi, Richard H Haas, Marni J Falk, Amy Goldstein, Shana E McCormack

J Endocr Soc. 2018 Apr 1; 2(4): 361–373. Published online 2018 Feb 19. doi: 10.1210/js.2017-00434

PMCID:: PMC5865537

Article PDF–153K

Select item 58494056.

8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease

Rebecca D. Ganetzky, Marni J. Falk

Mol Genet Metab. Author manuscript; available in PMC 2019 Mar 1.

Published in final edited form as: Mol Genet Metab. 2018 Mar; 123(3): 301–308. Published online 2018 Feb 2. doi: 10.1016/j.ymgme.2018.01.010

PMCID:: PMC5849405

Article PDF–317K

Select item 56570467.

Detection and quantification of mitochondrial DNA deletions from next-generation sequence data

Colleen M. Bosworth, Sneha Grandhi, Meetha P. Gould, Thomas LaFramboise

BMC Bioinformatics. 2017; 18(Suppl 12): 407. Published online 2017 Oct 16. doi: 10.1186/s12859-017-1821-7

PMCID:: PMC5657046

Article PDF–908K

Select item 49710488.

Clinical features, pathogenesis, and treatment of myasthenia gravis: a supplement to the Guidelines of the German Neurological Society

Nico Melzer, Tobias Ruck, Peter Fuhr, Ralf Gold, Reinhard Hohlfeld, Alexander Marx, Arthur Melms, Björn Tackenberg, Berthold Schalke, Christiane Schneider-Gold, Fritz Zimprich, Sven G. Meuth, Heinz Wiendl

J Neurol. 2016; 263: 1473–1494. Published online 2016 Feb 17. doi: 10.1007/s00415-016-8045-z

PMCID:: PMC4971048

Article PDF–3.4M

Select item 48647749.

Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica)

Piero Farruggia, Andrea Di Cataldo, Rita M. Pinto, Elena Palmisani, Alessandra Macaluso, Laura Lo Valvo, Maria E. Cantarini, Assunta Tornesello, Paola Corti, Francesca Fioredda, Stefania Varotto, Baldo Martire, Isabella Moroni, Giuseppe Puccio, Giovanna Russo, Carlo Dufour, Marta Pillon

JIMD Rep. 2016; 26: 37–43. Published online 2015 Aug 4. doi: 10.1007/8904_2015_470

PMCID:: PMC4864774

Article PDF–178K

Select item 443210810.

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

Alexander Broomfield, Mary G. Sweeney, Cathy E. Woodward, Carl Fratter, Andrew M. Morris, James V. Leonard, Lara Abulhoul, Stephanie Grunewald, Peter T. Clayton, Michael G. Hanna, Joanna Poulton, Shamima Rahman

J Inherit Metab Dis. 2015; 38(3): 445–457. Published online 2014 Oct 29. doi: 10.1007/s10545-014-9778-4

PMCID:: PMC4432108

Article PDF–472K

Select item 430258611.

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

Pilar Quijada-Fraile, Mar O’Callaghan, Elena Martín-Hernández, Raquel Montero, Àngels Garcia-Cazorla, Ana Martínez de Aragón, Jordi Muchart, Ignacio Málaga, Rafael Pardo, Pedro García-Gonzalez, Cristina Jou, Julio Montoya, Sonia Emperador, Eduardo Ruiz-Pesini, Joaquín Arenas, Miguel Angel Martin, Aida Ormazabal, Mercè Pineda, María T García-Silva, Rafael Artuch

Orphanet J Rare Dis. 2014; 9: 217. Published online 2014 Dec 24. doi: 10.1186/s13023-014-0217-2

PMCID:: PMC4302586

Article PDF–1.1M

Select item 410270512.

Pearson syndrome in a Diamond-Blackfan anemia cohort

Blanche P. Alter

Blood. 2014 Jul 17; 124(3): 312–313. doi: 10.1182/blood-2014-04-571687

PMCID:: PMC4102705

Article

Select item 396512413.

MitoBreak: the mitochondrial DNA breakpoints database

Joana Damas, João Carneiro, António Amorim, Filipe Pereira

Nucleic Acids Res. 2014 Jan 1; 42(Database issue): D1261–D1268. Published online 2013 Oct 28. doi: 10.1093/nar/gkt982

PMCID:: PMC3965124

Article PDF–7.2M

Select item 391447014.

Disease progression in patients with single, large-scale mitochondrial DNA deletions

John P. Grady, Georgia Campbell, Thiloka Ratnaike, Emma L. Blakely, Gavin Falkous, Victoria Nesbitt, Andrew M. Schaefer, Richard J. McNally, Grainne S. Gorman, Robert W. Taylor, Doug M. Turnbull, Robert McFarland

Brain. 2014 Feb; 137(2): 323–334. Published online 2013 Nov 23. doi: 10.1093/brain/awt321

PMCID:: PMC3914470

Article PDF–1.1M

Select item 263805915.

Urinary Biomarkers for Sensitive and Specific Detection of Acute Kidney Injury in Humans

Vishal S. Vaidya, Sushrut S. Waikar, Michael A. Ferguson, Fitz B. Collings, Kelsey Sunderland, Costas Gioules, Gary Bradwin, Roland Matsouaka, Rebecca A. Betensky, Gary C. Curhan, Joseph V. Bonventre

Clin Transl Sci. 2008 Dec; 1(3): 200–208. Published online 2008 Oct 8. doi: 10.1111/j.1752-8062.2008.00053.x

PMCID:: PMC2638059

Article PDF–5.8M

Select item 33346216.

Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.

S Mita, R Rizzuto, C T Moraes, S Shanske, E Arnaudo, G M Fabrizi, Y Koga, S DiMauro, E A Schon

Nucleic Acids Res. 1990 Feb 11; 18(3): 561–567. doi: 10.1093/nar/18.3.561

PMCID:: PMC333462

Summary Page Browse PDF–1.4M

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