Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations
Published 2011 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations
Authors
Keywords
-
Journal
JOURNAL OF NEUROLOGY
Volume 259, Issue 5, Pages 862-868
Publisher
Springer Nature
Online
2011-10-12
DOI
10.1007/s00415-011-6268-6
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Gastrointestinal Neuromuscular Pathology in Alpers Disease
- (2011) Raj P. Kapur et al. AMERICAN JOURNAL OF SURGICAL PATHOLOGY
- Novel POLG Splice Site Mutation and Optic Atrophy
- (2011) Margherita Milone et al. ARCHIVES OF NEUROLOGY
- Mitochondrial DNA polymerase mutations: an ever expanding molecular and clinical spectrum
- (2011) S. Tang et al. JOURNAL OF MEDICAL GENETICS
- POLG1 Variations Presenting as Multiple Sclerosis
- (2010) Andoni Echaniz-Laguna et al. ARCHIVES OF NEUROLOGY
- Quantitative Evaluation of the Mitochondrial DNA Depletion Syndrome
- (2010) D. Dimmock et al. CLINICAL CHEMISTRY
- The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders
- (2010) Bruce H. Cohen et al. METHODS
- Polymerase Gamma 1 Mutations
- (2010) Margherita Milone et al. NEUROLOGIST
- A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions
- (2009) Henna Tyynismaa et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B
- (2009) Aziz Shaibani et al. ARCHIVES OF NEUROLOGY
- Frequency of Mitochondrial Defects in Patients With Chronic Intestinal Pseudo-Obstruction
- (2009) Aurélien Amiot et al. GASTROENTEROLOGY
- Application of dual-genome oligonucleotidearray-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes
- (2009) A Craig Chinault et al. GENETICS IN MEDICINE
- Gastrointestinal Dysmotility in Mitochondrial Neurogastrointestinal Encephalomyopathy Is Caused by Mitochondrial DNA Depletion
- (2008) Carla Giordano et al. AMERICAN JOURNAL OF PATHOLOGY
- Utility of Oligonucleotide Array-Based Comparative Genomic Hybridization for Detection of Target Gene Deletions
- (2008) L.-J. C. Wong et al. CLINICAL CHEMISTRY
- Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion
- (2008) Jan-Willem Taanman et al. HUMAN MUTATION
- Molecular and clinical genetics of mitochondrial diseases due toPOLGmutations
- (2008) Lee-Jun C. Wong et al. HUMAN MUTATION
- Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations
- (2008) Margherita Milone et al. NEUROMUSCULAR DISORDERS
- Ribonucleotide reduction is a cytosolic process in mammalian cells independently of DNA damage
- (2008) G. Pontarin et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started