Literature DB >> 25926091

Next generation mitochondrial disease: change in diagnostics with eyes on therapy.

Eva Morava1, Garry K Brown.   

Abstract

Mesh：

Year:  2015        PMID： 25926091     DOI： 10.1007/s10545-015-9852-6

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


× No keyword cloud information.
  4 in total

Review 1.  Reversible infantile mitochondrial diseases.

Authors:  Veronika Boczonadi; Boglarka Bansagi; Rita Horvath
Journal:  J Inherit Metab Dis       Date:  2014-11-19       Impact factor: 4.982

2.  Mitochondrial disease criteria: diagnostic applications in children.

Authors:  E Morava; L van den Heuvel; F Hol; M C de Vries; M Hogeveen; R J Rodenburg; J A M Smeitink
Journal:  Neurology       Date:  2006-11-28       Impact factor: 9.910

3.  TMEM70 deficiency: long-term outcome of 48 patients.

Authors:  Martin Magner; Veronika Dvorakova; Marketa Tesarova; Stella Mazurova; Hana Hansikova; Martin Zahorec; Katarina Brennerova; Vladimir Bzduch; Ronen Spiegel; Yoseph Horovitz; Hanna Mandel; Fatma Tuba Eminoğlu; Johannes Adalbert Mayr; Johannes Koch; Diego Martinelli; Enrico Bertini; Vassiliki Konstantopoulou; Joél Smet; Shamima Rahman; Alexander Broomfield; Vesna Stojanović; Carlo Dionisi-Vici; Rudy van Coster; Eva Morava; Eva Morava-Kozicz; Wolfgang Sperl; Jiri Zeman; Tomas Honzik
Journal:  J Inherit Metab Dis       Date:  2014-10-18       Impact factor: 4.982

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

Authors:  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
Journal:  J Inherit Metab Dis       Date:  2014-10-29       Impact factor: 4.982
  4 in total
  4 in total

1.  Revisiting mitochondrial diagnostic criteria in the new era of genomics.

Authors:  Peter Witters; Ann Saada; Tomas Honzik; Marketa Tesarova; Stephanie Kleinle; Rita Horvath; Amy Goldstein; Eva Morava
Journal:  Genet Med       Date:  2017-10-26       Impact factor: 8.822

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

Authors:  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
Journal:  J Inherit Metab Dis       Date:  2017-04-20       Impact factor: 4.982

3.  Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients.

Authors:  Mariana Amina Loos; Gimena Gomez; Lía Mayorga; Roberto Horacio Caraballo; Hernán Diego Eiroa; María Gabriela Obregon; Carlos Rugilo; Fabiana Lubieniecki; Ana Lía Taratuto; María Saccoliti; Cristina Noemi Alonso; Hilda Verónica Aráoz
Journal:  Mol Genet Metab Rep       Date:  2021-02-25

4.  Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.

Authors:  Sanna Puusepp; Karit Reinson; Sander Pajusalu; Ülle Murumets; Eve Õiglane-Shlik; Reet Rein; Inga Talvik; Richard J Rodenburg; Katrin Õunap
Journal:  Mol Genet Metab Rep       Date:  2018-03-15
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.