Literature DB >> 28599323

A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era.

Saskia B Wortmann1,2,3, Johannes A Mayr1, Jean Marc Nuoffer4, Holger Prokisch2,3, Wolfgang Sperl1.   

Abstract

Mesh：

Year:  2017        PMID： 28599323     DOI： 10.1055/s-0037-1603776

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN： 0174-304X            Impact factor:   1.947


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  19 in total

1.  Mutation of the WARS2 Gene as the Cause of a Severe Hyperkinetic Movement Disorder.

Authors:  Annemarie Hübers; Hans-Jürgen Huppertz; Saskia B Wortmann; Jan Kassubek
Journal:  Mov Disord Clin Pract       Date:  2019-11-07

2.  Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.

Authors:  Rauan Kaiyrzhanov; Sami E M Mohammed; Reza Maroofian; Ralf A Husain; Alessia Catania; Alessandra Torraco; Ahmad Alahmad; Marina Dutra-Clarke; Sabine Grønborg; Annapurna Sudarsanam; Julie Vogt; Filippo Arrigoni; Julia Baptista; Shahzad Haider; René G Feichtinger; Paolo Bernardi; Alessandra Zulian; Mirjana Gusic; Stephanie Efthymiou; Renkui Bai; Farah Bibi; Alejandro Horga; Julian A Martinez-Agosto; Amanda Lam; Andreea Manole; Diego-Perez Rodriguez; Romina Durigon; Angela Pyle; Buthaina Albash; Carlo Dionisi-Vici; David Murphy; Diego Martinelli; Enrico Bugiardini; Katrina Allis; Costanza Lamperti; Siegfried Reipert; Lotte Risom; Lucia Laugwitz; Michela Di Nottia; Robert McFarland; Laura Vilarinho; Michael Hanna; Holger Prokisch; Johannes A Mayr; Enrico Silvio Bertini; Daniele Ghezzi; Elsebet Østergaard; Saskia B Wortmann; Rosalba Carrozzo; Tobias B Haack; Robert W Taylor; Antonella Spinazzola; Karin Nowikovsky; Henry Houlden
Journal:  Am J Hum Genet       Date:  2022-09-01       Impact factor: 11.043

Review 3.  Recent advances in understanding the molecular genetic basis of mitochondrial disease.

Authors:  Kyle Thompson; Jack J Collier; Ruth I C Glasgow; Fiona M Robertson; Angela Pyle; Emma L Blakely; Charlotte L Alston; Monika Oláhová; Robert McFarland; Robert W Taylor
Journal:  J Inherit Metab Dis       Date:  2019-05-10       Impact factor: 4.750

Review 4.  Molecular basis of Leigh syndrome: a current look.

Authors:  Manuela Schubert Baldo; Laura Vilarinho
Journal:  Orphanet J Rare Dis       Date:  2020-01-29       Impact factor: 4.123

5.  Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

Authors:  Jing Tan; Matias Wagner; Sarah L Stenton; Tim M Strom; Saskia B Wortmann; Holger Prokisch; Thomas Meitinger; Konrad Oexle; Thomas Klopstock
Journal:  EBioMedicine       Date:  2020-04-16       Impact factor: 8.143

Review 6.  "Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing.

Authors:  Laura S Kremer; Saskia B Wortmann; Holger Prokisch
Journal:  J Inherit Metab Dis       Date:  2018-01-25       Impact factor: 4.982

Review 7.  Genetics of mitochondrial diseases: Identifying mutations to help diagnosis.

Authors:  Sarah L Stenton; Holger Prokisch
Journal:  EBioMedicine       Date:  2020-05-23       Impact factor: 11.205

8.  Mitochondrial disease: an uncommon but important cause of diabetes mellitus

Authors:  Ming Li Yee; Rosemary Wong; Mineesh Datta; Timothy Nicholas Fazlo; Mina Mohammad Ebrahim; Elissa Claire Mcnamara; Gerard De Jong; Christopher Gilfillan
Journal:  Endocrinol Diabetes Metab Case Rep       Date:  2018-09-25

9.  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

Review 10.  Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety.

Authors:  Heidi Zweers; Annemiek M J van Wegberg; Mirian C H Janssen; Saskia B Wortmann
Journal:  Orphanet J Rare Dis       Date:  2021-07-03       Impact factor: 4.123
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