Literature DB >> 23858410

Mitochondrial encephalomyopathies--fifty years on: the Robert Wartenberg Lecture.

Salvatore DiMauro1.   

Abstract

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Year:  2013        PMID： 23858410      PMCID： PMC3959764          DOI： 10.1212/WNL.0b013e31829bfe89

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  56 in total

Review 1.  Mutations in mtDNA: are we scraping the bottom of the barrel?

Authors:  S DiMauro; A L Andreu
Journal:  Brain Pathol       Date:  2000-07       Impact factor: 6.508

Review 2.  Neuropathological features of mitochondrial disorders.

Authors:  K Tanji; T Kunimatsu; T H Vu; E Bonilla
Journal:  Semin Cell Dev Biol       Date:  2001-12       Impact factor: 7.727

Review 3.  Barth syndrome, a human disorder of cardiolipin metabolism.

Authors:  Michael Schlame; Mindong Ren
Journal:  FEBS Lett       Date:  2006-07-17       Impact factor: 4.124

4.  Molecular genetics, pseudogenetics, and clinical neurology. The Robert Wartenberg Lecture.

Authors:  L P Rowland
Journal:  Neurology       Date:  1983-09       Impact factor: 9.910

5.  Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.

Authors:  Robert McFarland; Kim M Clark; Andrew A M Morris; Robert W Taylor; Sheila Macphail; Robert N Lightowlers; Douglass M Turnbull
Journal:  Nat Genet       Date:  2002-01-22       Impact factor: 38.330

6.  Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants.

Authors:  Daniel Paull; Valentina Emmanuele; Keren A Weiss; Nathan Treff; Latoya Stewart; Haiqing Hua; Matthew Zimmer; David J Kahler; Robin S Goland; Scott A Noggle; Robert Prosser; Michio Hirano; Mark V Sauer; Dieter Egli
Journal:  Nature       Date:  2012-12-19       Impact factor: 49.962

7.  Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion.

Authors:  Stefan Vielhaber; Grazyna Debska-Vielhaber; Viktoriya Peeva; Susanne Schoeler; Alexei P Kudin; Irina Minin; Stefanie Schreiber; Reinhard Dengler; Katja Kollewe; Werner Zuschratter; Cornelia Kornblum; Gábor Zsurka; Wolfram S Kunz
Journal:  Acta Neuropathol       Date:  2012-08-28       Impact factor: 17.088

Review 8.  Mitochondria-associated ER membranes in Alzheimer disease.

Authors:  Eric A Schon; Estela Area-Gomez
Journal:  Mol Cell Neurosci       Date:  2012-08-24       Impact factor: 4.314

9.  Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.

Authors:  Cornelia Kornblum; Thomas J Nicholls; Tobias B Haack; Susanne Schöler; Viktoriya Peeva; Katharina Danhauser; Kerstin Hallmann; Gábor Zsurka; Joanna Rorbach; Arcangela Iuso; Thomas Wieland; Monica Sciacco; Dario Ronchi; Giacomo P Comi; Maurizio Moggio; Catarina M Quinzii; Salvatore DiMauro; Sarah E Calvo; Vamsi K Mootha; Thomas Klopstock; Tim M Strom; Thomas Meitinger; Michal Minczuk; Wolfram S Kunz; Holger Prokisch
Journal:  Nat Genet       Date:  2013-01-13       Impact factor: 38.330

10.  Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.

Authors:  Dario Ronchi; Caterina Garone; Andreina Bordoni; Purificacion Gutierrez Rios; Sarah E Calvo; Michela Ripolone; Michela Ranieri; Mafalda Rizzuti; Luisa Villa; Francesca Magri; Stefania Corti; Nereo Bresolin; Vamsi K Mootha; Maurizio Moggio; Salvatore DiMauro; Giacomo P Comi; Monica Sciacco
Journal:  Brain       Date:  2012-10-04       Impact factor: 13.501
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  10 in total

1.  Mitochondrial Diseases: A Clinical and Molecular History.

Authors:  Steven G Pavlakis; Michio Hirano
Journal:  Pediatr Neurol       Date:  2016-06-02       Impact factor: 3.372

Review 2.  Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology.

Authors:  Ann E Frazier; David R Thorburn; Alison G Compton
Journal:  J Biol Chem       Date:  2017-12-12       Impact factor: 5.157

Review 3.  Bioenergetic medicine.

Authors:  Russell H Swerdlow
Journal:  Br J Pharmacol       Date:  2014-04       Impact factor: 8.739

Review 4.  Development of pharmacological strategies for mitochondrial disorders.

Authors:  M Kanabus; S J Heales; S Rahman
Journal:  Br J Pharmacol       Date:  2014-04       Impact factor: 8.739

5.  Mitochondrial disease heterogeneity: a prognostic challenge.

Authors:  Maurizio Moggio; Irene Colombo; Lorenzo Peverelli; Luisa Villa; Rubjona Xhani; Silvia Testolin; Salvatore Di Mauro; Monica Sciacco
Journal:  Acta Myol       Date:  2014-10

6.  Therapeutic regimen of L-arginine for MELAS: 9-year, prospective, multicenter, clinical research.

Authors:  Yasutoshi Koga; Nataliya Povalko; Eisuke Inoue; Hidefumi Nakamura; Akiko Ishii; Yasuhiro Suzuki; Makoto Yoneda; Fumio Kanda; Masaya Kubota; Hisashi Okada; Katsunori Fujii
Journal:  J Neurol       Date:  2018-09-29       Impact factor: 4.849

7.  Two Sisters with Kallmann Syndrome, Gonadal Dysgenesis, and Multiple Neuromuscular and Endocrine Disorders: Report of Two Cases with Description of an Unusual Association.

Authors:  Marta Camacho; Camil Castelo-Branco
Journal:  Reprod Sci       Date:  2022-02-23       Impact factor: 2.924

8.  Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.

Authors:  Caterina Garone; Aaron R D'Souza; Cristina Dallabona; Tiziana Lodi; Pedro Rebelo-Guiomar; Joanna Rorbach; Maria Alice Donati; Elena Procopio; Martino Montomoli; Renzo Guerrini; Massimo Zeviani; Sarah E Calvo; Vamsi K Mootha; Salvatore DiMauro; Ileana Ferrero; Michal Minczuk
Journal:  Hum Mol Genet       Date:  2017-11-01       Impact factor: 6.150

Review 9.  PET Imaging for Oxidative Stress in Neurodegenerative Disorders Associated with Mitochondrial Dysfunction.

Authors:  Masamichi Ikawa; Hidehiko Okazawa; Yasunari Nakamoto; Makoto Yoneda
Journal:  Antioxidants (Basel)       Date:  2020-09-14

Review 10.  Mitochondrial genetic medicine.

Authors:  Douglas C Wallace
Journal:  Nat Genet       Date:  2018-10-29       Impact factor: 38.330
  10 in total

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