Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.

Literature DB >> 19307547

Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.

C Giordano¹, H Powell, M Leopizzi, M De Curtis, M de Curtis, C Travaglini, M Sebastiani, P Gallo, R W Taylor, G d'Amati.

Abstract

Entities: Chemical

Mesh：

Substances：

Year: 2009 PMID： 19307547 PMCID： PMC2821839 DOI： 10.1212/01.wnl.0000345002.47396.e1

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

× No keyword cloud information.

6 in total

Review 1. Mitochondrial DNA polymerase-gamma and human disease.

Authors: Gavin Hudson; Patrick F Chinnery
Journal: Hum Mol Genet Date: 2006-10-15 Impact factor: 6.150

2. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Authors: Rita Horvath; Gavin Hudson; Gianfrancesco Ferrari; Nancy Fütterer; Sofia Ahola; Eleonora Lamantea; Holger Prokisch; Hanns Lochmüller; Robert McFarland; V Ramesh; Thomas Klopstock; Peter Freisinger; Fabrizio Salvi; Johannes A Mayr; Rene Santer; Marketa Tesarova; Jiri Zeman; Bjarne Udd; Robert W Taylor; Douglass Turnbull; Michael Hanna; Doreen Fialho; Anu Suomalainen; Massimo Zeviani; Patrick F Chinnery
Journal: Brain Date: 2006-04-18 Impact factor: 13.501

3. Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion.

Authors: Carla Giordano; Mariangela Sebastiani; Roberto De Giorgio; Claudia Travaglini; Andrea Tancredi; Maria Lucia Valentino; Marzio Bellan; Andrea Cossarizza; Michio Hirano; Giulia d'Amati; Valerio Carelli
Journal: Am J Pathol Date: 2008-09-11 Impact factor: 4.307

4. Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

Authors: Langping He; Patrick F Chinnery; Steve E Durham; Emma L Blakely; Theresa M Wardell; Gillian M Borthwick; Robert W Taylor; Douglass M Turnbull
Journal: Nucleic Acids Res Date: 2002-07-15 Impact factor: 16.971

5. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

Authors: Gianfrancesco Ferrari; Eleonora Lamantea; Alice Donati; Massimiliano Filosto; Egill Briem; Franco Carrara; Rossella Parini; Alessandro Simonati; René Santer; Massimo Zeviani
Journal: Brain Date: 2005-02-02 Impact factor: 13.501

6. Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.

Authors: Maaike C de Vries; Richard J Rodenburg; Eva Morava; Edwin P M van Kaauwen; Henk ter Laak; Reinier A Mullaart; Irina N Snoeck; Peter M van Hasselt; Peter Harding; Lambert P W van den Heuvel; Jan A M Smeitink
Journal: Eur J Pediatr Date: 2006-09-07 Impact factor: 3.860

6 in total

14 in total

Review 1. Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis.

Authors: Linsheng Zhang; Sherine S L Chan; Daynna J Wolff
Journal: Arch Pathol Lab Med Date: 2011-07 Impact factor: 5.534

Review 2. Alpers-Huttenlocher syndrome.

Authors: Russell P Saneto; Bruce H Cohen; William C Copeland; Robert K Naviaux
Journal: Pediatr Neurol Date: 2013-03 Impact factor: 3.372

Review 3. Pediatric Intestinal Pseudo-obstruction in the Era of Genetic Sequencing.

Authors: Heidi E Gamboa; Manu Sood
Journal: Curr Gastroenterol Rep Date: 2019-12-17

4. Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest.

Authors: Michal Inbar-Feigenberg; Susan Blaser; Cynthia Hawkins; Patrick Shannon; Stacy Hewson; David Chitayat
Journal: Metab Brain Dis Date: 2018-03-25 Impact factor: 3.584

5. Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction.

Authors: Elena Bonora; Francesca Bianco; Lina Cordeddu; Michael Bamshad; Ludmila Francescatto; Dustin Dowless; Vincenzo Stanghellini; Rosanna F Cogliandro; Greger Lindberg; Zeynel Mungan; Kivanc Cefle; Tayfun Ozcelik; Sukru Palanduz; Sukru Ozturk; Asuman Gedikbasi; Alessandra Gori; Tommaso Pippucci; Claudio Graziano; Umberto Volta; Giacomo Caio; Giovanni Barbara; Mauro D'Amato; Marco Seri; Nicholas Katsanis; Giovanni Romeo; Roberto De Giorgio
Journal: Gastroenterology Date: 2015-01-06 Impact factor: 22.682

6. Transcriptome of the inner circular smooth muscle of the developing mouse intestine: Evidence for regulation of visceral smooth muscle genes by the hedgehog target gene, cJun.

Authors: Katherine Gurdziel; Kyle R Vogt; Katherine D Walton; Gary K Schneider; Deborah L Gumucio
Journal: Dev Dyn Date: 2016-03-17 Impact factor: 3.780

7. Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.

Authors: Daan Viering; Karl P Schlingmann; Marguerite Hureaux; Tom Nijenhuis; Andrew Mallett; Melanie M Y Chan; André van Beek; Albertien M van Eerde; Jean-Marie Coulibaly; Marion Vallet; Stéphane Decramer; Solenne Pelletier; Günter Klaus; Martin Kömhoff; Rolf Beetz; Chirag Patel; Mohan Shenoy; Eric J Steenbergen; Glenn Anderson; Ernie M H F Bongers; Carsten Bergmann; Daan Panneman; Richard J Rodenburg; Robert Kleta; Pascal Houillier; Martin Konrad; Rosa Vargas-Poussou; Nine V A M Knoers; Detlef Bockenhauer; Jeroen H F de Baaij
Journal: J Am Soc Nephrol Date: 2021-10-04 Impact factor: 10.121