Literature DB >> 30706245

PTCD3 mutations cause Leigh-like rather than Leigh syndrome.

Josef Finsterer1, Carla A Scorza2, Fulvio A Scorza2.   

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Year:  2019        PMID： 30706245     DOI： 10.1007/s10048-019-00566-5

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


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  5 in total

Review 1.  Leigh and Leigh-like syndrome in children and adults.

Authors:  Josef Finsterer
Journal:  Pediatr Neurol       Date:  2008-10       Impact factor: 3.372

2.  A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.

Authors:  Diane Doummar; Cyril Mignot; Emmanuelle Apartis; Laurent Villard; Diana Rodriguez; Sandra Chantot-Bastauraud; Lydie Burglen
Journal:  Mov Disord       Date:  2015-07-24       Impact factor: 10.338

Review 3.  Epilepsy in mitochondrial disorders.

Authors:  Josef Finsterer; Sinda Zarrouk Mahjoub
Journal:  Seizure       Date:  2012-03-27       Impact factor: 3.184

4.  Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.

Authors:  Nurun Nahar Borna; Yoshihito Kishita; Masakazu Kohda; Sze Chern Lim; Masaru Shimura; Yibo Wu; Kaoru Mogushi; Yukiko Yatsuka; Hiroko Harashima; Yuichiro Hisatomi; Takuya Fushimi; Keiko Ichimoto; Kei Murayama; Akira Ohtake; Yasushi Okazaki
Journal:  Neurogenetics       Date:  2019-01-03       Impact factor: 2.660

5.  Atypical amyoplasia congenita in an infant with Leigh syndrome: a mitochondrial cause of severe contractures?

Authors:  Yael Wilnai; Laurie H Seaver; Gregory M Enns
Journal:  Am J Med Genet A       Date:  2012-08-07       Impact factor: 2.802
  5 in total

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