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Literature DB >> 21667329

A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy.

Elena Cardaioli, Francesco Sicurelli, Maria Alessandra Carluccio, Gian Nicola Gallus, Paola Da Pozzo, Mauro Mondelli, Maria Antonietta Margollicci, Vanna Micheli, Antonio Federico, Maria Teresa Dotti.

Abstract

Entities: Disease

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Year: 2011 PMID： 21667329 DOI： 10.1007/s00415-011-6113-y

Source DB: PubMed Journal: J Neurol ISSN： 0340-5354 Impact factor: 4.849

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11 in total

Review 1. Listening to silence and understanding nonsense: exonic mutations that affect splicing.

Authors: Luca Cartegni; Shern L Chew; Adrian R Krainer
Journal: Nat Rev Genet Date: 2002-04 Impact factor: 53.242

2. Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE.

Authors: M Hirano; R Martí; C Casali; S Tadesse; T Uldrick; B Fine; D M Escolar; M L Valentino; I Nishino; C Hesdorffer; J Schwartz; R G Hawks; D L Martone; M S Cairo; S DiMauro; M Stanzani; J H Garvin; D G Savage
Journal: Neurology Date: 2006-09-13 Impact factor: 9.910

3. Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE.

Authors: M A Martín; A Blázquez; R Martí; J Bautista; M C Lara; A Cabello; Y Campos; O Belda; A L Andreu; J Arenas
Journal: Neurology Date: 2004-10-26 Impact factor: 9.910

4. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.

Authors: I Nishino; A Spinazzola; A Papadimitriou; S Hammans; I Steiner; C D Hahn; A M Connolly; A Verloes; J Guimarães; I Maillard; H Hamano; M A Donati; C E Semrad; J A Russell; A L Andreu; G M Hadjigeorgiou; T H Vu; S Tadesse; T G Nygaard; I Nonaka; I Hirano; E Bonilla; L P Rowland; S DiMauro; M Hirano
Journal: Ann Neurol Date: 2000-06 Impact factor: 10.422

5. Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.

Authors: Ramon Martí; Jan J G M Verschuuren; Alan Buchman; Ikuo Hirano; Saba Tadesse; André B P van Kuilenburg; Albert H van Gennip; Ben J H M Poorthuis; Michio Hirano
Journal: Ann Neurol Date: 2005-10 Impact factor: 10.422

6. A second MNGIE patient without typical mitochondrial skeletal muscle involvement.

Authors: Elena Cardaioli; Paola Da Pozzo; Edoardo Malfatti; Carla Battisti; Gian Nicola Gallus; Carmen Gaudiano; Marco Macucci; Alessandro Malandrini; Maria Margollicci; Anna Rubegni; Maria Teresa Dotti; Antonio Federico
Journal: Neurol Sci Date: 2010-03-16 Impact factor: 3.307

7. Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation.

Authors: F J Carod-Artal; M D Herrero; M C Lara; E López-Gallardo; E Ruiz-Pesini; R Martí; J Montoya
Journal: Eur J Neurol Date: 2007-05 Impact factor: 6.089

8. MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation.

Authors: K Szigeti; L-J C Wong; C-L Perng; G M Saifi; K Eldin; A M Adesina; D L Cass; M Hirano; J R Lupski; F Scaglia
Journal: J Med Genet Date: 2004-02 Impact factor: 6.318

9. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.

Authors: I Nishino; A Spinazzola; M Hirano
Journal: Science Date: 1999-01-29 Impact factor: 47.728

10. Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Authors: Maria Lucia Valentino; Ramon Martí; Saba Tadesse; Luis Carlos López; Jose L Manes; Judy Lyzak; Angelika Hahn; Valerio Carelli; Michio Hirano
Journal: FEBS Lett Date: 2007-06-27 Impact factor: 4.124

4 in total