Literature DB >> 15505189

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

M A Martín1, A Blázquez, R Martí, J Bautista, M C Lara, A Cabello, Y Campos, O Belda, A L Andreu, J Arenas.   

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Year:  2004        PMID： 15505189     DOI： 10.1212/01.wnl.0000141857.37073.97

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  11 in total

Review 1.  CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.

Authors:  Michio Hirano; Caterina Garone; Catarina M Quinzii
Journal:  Biochim Biophys Acta       Date:  2012-01-18

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

Authors:  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
Journal:  J Neurol       Date:  2011-06-12       Impact factor: 4.849

3.  Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach.

Authors:  J Halter; Wmm Schüpbach; A Gratwohl; M Hirano; C Casali; R Elhasid; K Fay; S Hammans; I Illa; L Kappeler; S Krähenbühl; T Lehmann; H Mandel; R Marti; H Mattle; K Orchard; D Savage; C M Sue; D Valcarcel
Journal:  Bone Marrow Transplant       Date:  2010-05-03       Impact factor: 5.483

4.  Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.

Authors:  Massimiliano Filosto; Mauro Scarpelli; Paola Tonin; Silvia Testi; Maria Sofia Cotelli; Mara Rossi; Andrea Salvi; Alberto Grottolo; Valentina Vielmi; Alice Todeschini; Gian Maria Fabrizi; Alessandro Padovani; Giuliano Tomelleri
Journal:  J Inherit Metab Dis       Date:  2011-04-19       Impact factor: 4.982

5.  Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features.

Authors:  W M M Schüpbach; K Madhavi Vadday; A Schaller; C Brekenfeld; L Kappeler; J F Benoist; C Nguyen-Thi Xuan-Huong; J M Burgunder; F Seibold; S Gallati; H P Mattle
Journal:  J Neurol       Date:  2007-02-09       Impact factor: 4.849

6.  The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy.

Authors:  Mauro Scarpelli; Giuseppe Kenneth Ricciardi; Alberto Beltramello; Isabella Zocca; Francesca Calabria; Anna Russignan; Francesca Zappini; Maria Sofia Cotelli; Alessandro Padovani; Giuliano Tomelleri; Massimiliano Filosto; Paola Tonin
Journal:  Neuroradiol J       Date:  2013-11-07

7.  Transient clinical improvement of a mitochondrial neurogastrointestinal encephalomyopathy-like syndrome after allogeneic haematopoietic stem cell transplantation.

Authors:  Malcolm Kevin Baker; Clara Maria Schutte; Neelay Ranchhod; David Brittain; J E van Rensburg
Journal:  BMJ Case Rep       Date:  2017-08-01

Review 8.  Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options.

Authors:  Rana Yadak; Peter Sillevis Smitt; Marike W van Gisbergen; Niek P van Til; Irenaeus F M de Coo
Journal:  Front Cell Neurosci       Date:  2017-02-15       Impact factor: 5.505

Review 9.  Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far.

Authors:  Dario Pacitti; Michelle Levene; Caterina Garone; Niranjanan Nirmalananthan; Bridget E Bax
Journal:  Front Genet       Date:  2018-12-21       Impact factor: 4.599

10.  Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis.

Authors:  Mauro Scarpelli; Anna Russignan; Melinda Zombor; Csaba Bereczki; Francesca Zappini; Romina Buono; Bridget E Bax; Alessandro Padovani; Paola Tonin; Massimiliano Filosto
Journal:  Case Rep Neurol       Date:  2012-12-20
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