Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1)

Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy

(2018) Javier Torres-Torronteras et al.   HUMAN GENE THERAPY

Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE

(2018) Rana Yadak et al.   Molecular Therapy-Methods & Clinical Development

Mitochondrial neurogastrointestinal encephalomyopathy imitating Crohn’s disease: a rare cause of malnutrition

(2018)   Journal of Gastrointestinal and Liver Diseases

MtDNA-maintenance defects: syndromes and genes

(2017) Carlo Viscomi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function

(2017) Benjamin Röeben et al.   Orphanet Journal of Rare Diseases

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

(2017) Rana Yadak et al.   Frontiers in Cellular Neuroscience

Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy

(2016) Roberto De Giorgio et al.   ANNALS OF NEUROLOGY

Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy

(2016) Javier Torres-Torronteras et al.   HUMAN GENE THERAPY

“Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network

(2016) Michelangelo Mancuso et al.   NEUROMUSCULAR DISORDERS

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

(2015) Joerg P. Halter et al.   BRAIN

A novel finding in MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy): hypergonadotropic hypogonadism

(2014) İsmail Hakki Kalkan et al.   Hormones-International Journal of Endocrinology and Metabolism

Strategies for treating mitochondrial disorders: An update

(2014) Mauro Scarpelli et al.   MOLECULAR GENETICS AND METABOLISM

Diagnosis of mitochondrial neurogastrointestinal encephalopathy disease in gastrointestinal biopsies

(2013) Antonio R. Perez-Atayde   HUMAN PATHOLOGY

Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement

(2013) B. E. Bax et al.   NEUROLOGY

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

(2012) Massimiliano Filosto et al.   JOURNAL OF NEUROLOGY

Characteristics of intestinal pseudo-obstruction in patients with mitochondrial diseases

(2012) Yusuke Sekino   WORLD JOURNAL OF GASTROENTEROLOGY

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy

(2011) Caterina Garone et al.   BRAIN

Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy

(2011) Massimiliano Filosto et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations

(2011) Sha Tang et al.   JOURNAL OF NEUROLOGY

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

(2010) J Halter et al.   BONE MARROW TRANSPLANTATION

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation

(2010) Zeren Barış et al.   EUROPEAN JOURNAL OF PEDIATRICS

Mitochondrial neurogastrointestinal encephalomyopathy associated with progressive hearing loss

(2010) N Hiraki et al.   JOURNAL OF LARYNGOLOGY AND OTOLOGY

A second MNGIE patient without typical mitochondrial skeletal muscle involvement

(2010) Elena Cardaioli et al.   NEUROLOGICAL SCIENCES

Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B

(2009) Aziz Shaibani et al.   ARCHIVES OF NEUROLOGY

Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNAVal causing MNGIE-like gastrointestinal dysmotility and cachexia

(2009) Rita Horváth et al.   JOURNAL OF NEUROLOGY

Absence of the interstitial cell of Cajal network in mitochondrial neurogastrointestinal encephalomyopathy

(2009) v. zimmer et al.   NEUROGASTROENTEROLOGY AND MOTILITY

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

(2009) Roberto Massa et al.   NEUROMUSCULAR DISORDERS

Gastrointestinal Dysmotility in Mitochondrial Neurogastrointestinal Encephalomyopathy Is Caused by Mitochondrial DNA Depletion

(2008) Carla Giordano et al.   AMERICAN JOURNAL OF PATHOLOGY

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

(2008) Luis C. López et al.   HUMAN MOLECULAR GENETICS

Encéphalopathie myoneurogastro-intestinale

(2008) P. Rousset et al.   JOURNAL OF NEURORADIOLOGY