Literature DB >> 22532170

Clinical and biochemical improvement following HSCT in a patient with MNGIE: 1-year follow-up.

F Sicurelli, M A Carluccio, F Toraldo, M Tozzi, A Bucalossi, M Lenoci, G Jacomelli, V Micheli, E Cardaioli, M Mondelli, A Federico, G Marotta, M T Dotti.   

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Year:  2012        PMID： 22532170     DOI： 10.1007/s00415-012-6500-z

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


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  6 in total

1.  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

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.  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.  Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder.

Authors:  M Hirano; G Silvestri; D M Blake; A Lombes; C Minetti; E Bonilla; A P Hays; R E Lovelace; I Butler; T E Bertorini
Journal:  Neurology       Date:  1994-04       Impact factor: 9.910

6.  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
  6 in total
  11 in total

1.  Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy.

Authors:  Massimiliano Filosto; Mauro Scarpelli; Paola Tonin; Giovanna Lucchini; Fabio Pavan; Francesca Santus; Rossella Parini; Maria Alice Donati; Maria Sofia Cotelli; Valentina Vielmi; Alice Todeschini; Francesco Canonico; Giuliano Tomelleri; Alessandro Padovani; Attilio Rovelli
Journal:  J Neurol       Date:  2012-06-19       Impact factor: 4.849

2.  Mitochondrial neurogastrointestinal encephalomyopathy treated with peritoneal dialysis and bone marrow transplantation.

Authors:  Claudia Ariaudo; Germana Daidola; Bruno Ferrero; Cesare Guarena; Manuel Burdese; Giuseppe Paolo Segoloni; Luigi Biancone
Journal:  J Nephrol       Date:  2014-03-06       Impact factor: 3.902

3.  Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy.

Authors:  Elisa Boschetti; Roberto D'Angelo; Maria Lucia Tardio; Roberta Costa; Carla Giordano; Anna Accarino; Carolina Malagelada; Paolo Clavenzani; Vitaliano Tugnoli; Giacomo Caio; Valeria Righi; Caterina Garone; Antonietta D'Errico; Giovanna Cenacchi; Maria Teresa Dotti; Vincenzo Stanghellini; Catia Sternini; Loris Pironi; Rita Rinaldi; Valerio Carelli; Roberto De Giorgio
Journal:  Am J Physiol Gastrointest Liver Physiol       Date:  2021-03-03       Impact factor: 4.052

Review 4.  Stem cell-derived mitochondria transplantation: A promising therapy for mitochondrial encephalomyopathy.

Authors:  Kaiming Liu; Zhijian Zhou; Mengxiong Pan; Lining Zhang
Journal:  CNS Neurosci Ther       Date:  2021-02-03       Impact factor: 5.243

5.  Alpha-1-Antitrypsin Promoter Improves the Efficacy of an Adeno-Associated Virus Vector for the Treatment of Mitochondrial Neurogastrointestinal Encephalomyopathy.

Authors:  Raquel Cabrera-Pérez; Ferran Vila-Julià; Michio Hirano; Federico Mingozzi; Javier Torres-Torronteras; Ramon Martí
Journal:  Hum Gene Ther       Date:  2019-04-24       Impact factor: 4.793

Review 6.  Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.

Authors:  Michio Hirano; Valerio Carelli; Roberto De Giorgio; Loris Pironi; Anna Accarino; Giovanna Cenacchi; Roberto D'Alessandro; Massimiliano Filosto; Ramon Martí; Francesco Nonino; Antonio Daniele Pinna; Elisa Baldin; Bridget Elizabeth Bax; Alessio Bolletta; Riccardo Bolletta; Elisa Boschetti; Matteo Cescon; Roberto D'Angelo; Maria Teresa Dotti; Carla Giordano; Laura Ludovica Gramegna; Michelle Levene; Raffaele Lodi; Hanna Mandel; Maria Cristina Morelli; Olimpia Musumeci; Alessia Pugliese; Mauro Scarpelli; Antonio Siniscalchi; Antonella Spinazzola; Galit Tal; Javier Torres-Torronteras; Luca Vignatelli; Irina Zaidman; Heinz Zoller; Rita Rinaldi; Massimo Zeviani
Journal:  J Inherit Metab Dis       Date:  2020-09-08       Impact factor: 4.750

Review 7.  Emerging therapies for mitochondrial disorders.

Authors:  Helen Nightingale; Gerald Pfeffer; David Bargiela; Rita Horvath; Patrick F Chinnery
Journal:  Brain       Date:  2016-05-03       Impact factor: 13.501

Review 8.  Mitochondrial disease: genetics and management.

Authors:  Yi Shiau Ng; Doug M Turnbull
Journal:  J Neurol       Date:  2015-08-28       Impact factor: 4.849

9.  Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment.

Authors:  Bridget E Bax
Journal:  J Transl Genet Genom       Date:  2020-03-30

10.  Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.

Authors:  Joerg P Halter; W Michael; M Schüpbach; Hanna Mandel; Carlo Casali; Kim Orchard; Matthew Collin; David Valcarcel; Attilio Rovelli; Massimiliano Filosto; Maria T Dotti; Giuseppe Marotta; Guillem Pintos; Pere Barba; Anna Accarino; Christelle Ferra; Isabel Illa; Yves Beguin; Jaap A Bakker; Jaap J Boelens; Irenaeus F M de Coo; Keith Fay; Carolyn M Sue; David Nachbaur; Heinz Zoller; Claudia Sobreira; Belinda Pinto Simoes; Simon R Hammans; David Savage; Ramon Martí; Patrick F Chinnery; Ronit Elhasid; Alois Gratwohl; Michio Hirano
Journal:  Brain       Date:  2015-08-10       Impact factor: 13.501
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