Literature DB >> 11782998

MRI in Leigh syndrome with SURF1 gene mutation.

Mario Savoiardo, Massimo Zeviani, Graziella Uziel, Laura Farina.   

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Year:  2002        PMID： 11782998     DOI： 10.1002/ana.10031

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


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  7 in total

1.  Leigh syndrome: MRI findings in two children.

Authors:  Al Kartikasalwah; Ngu Lh
Journal:  Biomed Imaging Interv J       Date:  2010-01-01

2.  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

3.  Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings.

Authors:  Andrea Rossi; Roberta Biancheri; Claudio Bruno; Maja Di Rocco; Angela Calvi; Alice Pessagno; Paolo Tortori-Donati
Journal:  AJNR Am J Neuroradiol       Date:  2003 Jun-Jul       Impact factor: 3.825

4.  Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency.

Authors:  G M Enns; A J Barkovich; A B P van Kuilenburg; M Manning; T Sanger; D R Witt; A H van Gennip
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

5.  A rare mitochondrial disorder: Leigh syndrome--a case report.

Authors:  Dhananjay Y Shrikhande; Piyush Kalakoti; M M Aarif Syed; Kunal Ahya; Gurmeet Singh
Journal:  Ital J Pediatr       Date:  2010-09-15       Impact factor: 2.638

6.  SURF1 deficiency: a multi-centre natural history study.

Authors:  Yehani Wedatilake; Ruth M Brown; Robert McFarland; Joy Yaplito-Lee; Andrew A M Morris; Mike Champion; Phillip E Jardine; Antonia Clarke; David R Thorburn; Robert W Taylor; John M Land; Katharine Forrest; Angus Dobbie; Louise Simmons; Erlend T Aasheim; David Ketteridge; Donncha Hanrahan; Anupam Chakrapani; Garry K Brown; Shamima Rahman
Journal:  Orphanet J Rare Dis       Date:  2013-07-05       Impact factor: 4.123

Review 7.  Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Authors:  Sumit Parikh; Amy Goldstein; Mary Kay Koenig; Fernando Scaglia; Gregory M Enns; Russell Saneto; Irina Anselm; Bruce H Cohen; Marni J Falk; Carol Greene; Andrea L Gropman; Richard Haas; Michio Hirano; Phil Morgan; Katherine Sims; Mark Tarnopolsky; Johan L K Van Hove; Lynne Wolfe; Salvatore DiMauro
Journal:  Genet Med       Date:  2014-12-11       Impact factor: 8.822
  7 in total

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