Literature DB >> 31377874

Extensive clinical and genetic workup is worthwhile in patients with Leigh-like syndrome due to the TSFM variant c.547G>A.

Josef Finsterer1.   

Abstract

Entities:  

Year:  2019        PMID： 31377874     DOI： 10.1007/s10048-019-00585-2

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


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  7 in total

1.  Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

Authors:  Sarah E Calvo; Alison G Compton; Steven G Hershman; Sze Chern Lim; Daniel S Lieber; Elena J Tucker; Adrienne Laskowski; Caterina Garone; Shangtao Liu; David B Jaffe; John Christodoulou; Janice M Fletcher; Damien L Bruno; Jack Goldblatt; Salvatore Dimauro; David R Thorburn; Vamsi K Mootha
Journal:  Sci Transl Med       Date:  2012-01-25       Impact factor: 17.956

2.  Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings.

Authors:  Marcello Scala; Giorgia Brigati; Chiara Fiorillo; Claudia Nesti; Anna Rubegni; Marina Pedemonte; Claudio Bruno; Mariasavina Severino; Maria Derchi; Carlo Minetti; F M Santorelli
Journal:  Neurogenetics       Date:  2019-07-02       Impact factor: 2.660

3.  TSFM mutations cause a complex hyperkinetic movement disorder with strong relief by cannabinoids.

Authors:  Andreas Traschütz; Stefanie N Hayer; Benjamin Bender; Ludger Schöls; Saskia Biskup; Matthis Synofzik
Journal:  Parkinsonism Relat Disord       Date:  2018-09-29       Impact factor: 4.891

4.  Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.

Authors:  Sonia Emperador; M Pilar Bayona-Bafaluy; Ana Fernández-Marmiesse; Mercedes Pineda; Blanca Felgueroso; Ester López-Gallardo; Rafael Artuch; Iria Roca; Eduardo Ruiz-Pesini; María Luz Couce; Julio Montoya
Journal:  Eur J Hum Genet       Date:  2016-09-28       Impact factor: 4.246

Review 5.  Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction.

Authors:  Josef Finsterer
Journal:  Pediatr Cardiol       Date:  2009-01-29       Impact factor: 1.655

6.  Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.

Authors:  Sofia Ahola; Pirjo Isohanni; Liliya Euro; Virginia Brilhante; Aarno Palotie; Helena Pihko; Tuula Lönnqvist; Tanita Lehtonen; Jukka Laine; Henna Tyynismaa; Anu Suomalainen
Journal:  Neurology       Date:  2014-07-18       Impact factor: 9.910

7.  A validation study of the European Society of Cardiology guidelines for risk stratification of sudden cardiac death in childhood hypertrophic cardiomyopathy.

Authors:  Gabrielle Norrish; Tao Ding; Ella Field; Karen McLeod; Maria Ilina; Graham Stuart; Vinay Bhole; Orhan Uzun; Elspeth Brown; Piers E F Daubeney; Amrit Lota; Katie Linter; Sujeev Mathur; Tara Bharucha; Khoon Li Kok; Satish Adwani; Caroline B Jones; Zdenka Reinhardt; Rumana Z Omar; Juan Pablo Kaski
Journal:  Europace       Date:  2019-10-01       Impact factor: 5.214
  7 in total

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