• A case of sigmoid volvulus
• A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation
• A Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
• A Novel Mutation in an MNGIE Patient Presenting with More Prominent Neurological Symptoms than GI Symptoms
• A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up
• A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy
• Antisynthetase syndrome presenting as interstitial lung disease: a case report
• Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers
• Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation
• Brain White Matter Lesions and Presumed Crohn's Disease: Did You Consider MNGIE?
• Chronic intestinal pseudo-obstruction due to <em>Strongyloides stercoralis</em>
• Chronic intestinal pseudo-obstruction due to Strongyloides stercoralis
• Circulating miRNAs as Biomarkers for Mitochondrial Neuro-Gastrointestinal Encephalomyopathy
• Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family
• Congenital Short-Bowel Syndrome: Clinical and Genetic Presentation in China
• Consanguinity and its relevance for the incidence of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): systematic review
• Could JC virus be linked to chronic idiopathic intestinal pseudo-obstruction?
• Deletion of IP(3)R1 by Pdgfrb-Cre in mice results in intestinal pseudo-obstruction and lethality
• Deletion of IP₃R1 by Pdgfrb-Cre in mice results in intestinal pseudo-obstruction and lethality
• Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene
• Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides
• Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy
• Expanding the phenotype in argininosuccinic aciduria: need for new therapies
• Familial chronic megacolon presenting in childhood or adulthood: Seeking the presumed gene association
• Familial intestinal degenerative neuropathy with chronic intestinal pseudo-obstruction linked to a gene locus with duplication in chromosome 9
• Familial intestinal degenerative neuropathy with chronic pseudo-obstruction linked to duplication in chromosome 9
• Familial Pernicious Chronic Intestinal Pseudo-obstruction with a Mitochondrial DNA A3243G Mutation
• Fecal microbiota transplantation in the treatment of acute intestinal pseudo obstruction secondary to intracerebral hemorrhage: a case report and literature review
• Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene
• Gastro-intestinal Involvement in m.3243A&gt;G-associated Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes
• Gastro-intestinal Involvement in m.3243A>G-associated Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes
• Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal
• Gastrointestinal: A rare case of concomitant type III achalasia and chronic idiopathic intestinal pseudo-obstruction
• Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 1: peripheral neuropathies
• Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome
• Hematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalopathy: A single-center experience underscoring the multiple factors involved in the prognosis
• Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome
• Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function
• Hollow Visceral Myopathy, a Rare Gastrointestinal Disorder: A Case Report and Short Review
• Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome
• Hypothyroidism Presenting as Adynamic Ileus Mimicking a Mechanical Small Bowel Obstruction: A Diagnostic and Management Dilemma
• Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing
• Interstitial cells of Cajal and human colon motility in health and disease
• Intestinal Pathology in Patients With Pathogenic <em>ACTG2</em>-Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature
• Intestinal Pathology in Patients With Pathogenic ACTG2-Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature
• Leukoencephalopathy with a case of heterozygous POLG mutation mimicking mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
• Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy
• Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy
• Loss function of Bcr mutation causes gastrointestinal dysmotility and brain developmental defects
• Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice
• Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
• Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE
• Megaesophagus and Megaduodenum Found Incidentally on a Routine Chest Radiograph During a Health Examination
• Mitochondrial disease: an uncommon but important cause of diabetes mellitus
• Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) mimicking refractory celiac disease
• Mitochondrial neurogastrointestinal encephalomyopathy imitating Crohn's disease: a rare cause of malnutrition
• Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report
• Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome Treated with Stem Cell Transplant: A Case Series and Literature Review
• Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Disease
• Mitochondrial Neurogastrointestinal Encephalopathy: Clinical, Biochemical and Molecular Study in Three Egyptian Patients
• MyoNeuroGastroIntestinal Encephalopathy: Natural History and Means for Early Diagnosis
• Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion
• Nicotinamide Riboside Improves Enteric Neuropathy in Streptozocin-Induced Diabetic Rats Through Myenteric Plexus Neuroprotection
• Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction
• Novel Mutations of the TYMP Gene in Mitochondrial Neurogastrointestinal Encephalomyopathy: Case Series and Literature Review
• Novel understanding on genetic mechanisms of enteric neuropathies leading to severe gut dysmotility
• Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex
• Peripheral neuropathy and gastroenterologic disorders: an overview on an underrecognized association
• POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotype
• Polyneuropathy Reveals Origins of Decade-long Gastrointestinal Symptoms in a Patient With Undiagnosed Mitochondrial Neurogastrointestinal Encephalopathy Caused by a Novel Mutation
• Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease
• Pseudoileus caused by primary visceral myopathy in a Han Chinese patient with a rare <em>MYH11</em> mutation: A case report
• Pseudoileus caused by primary visceral myopathy in a Han Chinese patient with a rare MYH11 mutation: A case report
• Purple urine in Berdon syndrome: a rare finding in the clinic laboratory
• Recent advances in liver transplantation for metabolic disease
• Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy
• Recurrent spontaneous small bowel perforations with a rare pathology: non-familial visceral myopathy
• Response to: POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotypes
• Robotic-assisted colectomy in children: a comparative study with laparoscopic surgery
• Small intestine motility disorders: Chronic intestinal pseudo-obstruction
• SOX10: 20 years of phenotypic plurality and current understanding of its developmental function
• Successful Sequential Liver and Isolated Intestine Transplantation for Mitochondrial Neurogastrointestinal Encephalopathy Syndrome: A Case Report
• Systemic lupus erythematosus following human papillomavirus vaccination: A case-based review
• The clinical eye
• The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2-related Disorders
• The expanding phenotypes of cohesinopathies: one ring to rule them all!
• The IgSF Cell Adhesion Protein CLMP and Congenital Short Bowel Syndrome (CSBS)
• The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency
• The prevalence of feeding difficulties and potential risk factors in pediatric intestinal failure: Time to consider promoting oral feeds?
• Thymidine Phosphorylase Deficiency or Inhibition Preserves Cardiac Function in Mice With Acute Myocardial Infarction
• Transient clinical improvement of a mitochondrial neurogastrointestinal encephalomyopathy-like syndrome after allogeneic haematopoietic stem cell transplantation
• Upholding Ethical Decision Making in Children With Life Limiting Illnesses
• Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome
• Variant in ACTG2 Causing Megacystis Microcolon Hypoperistalsis Syndrome and Severe Familial Postpartum Bleeding
• Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction
• Vasoactive Intestinal Polypeptide Plays a Key Role in the Microbial-Neuroimmune Control of Intestinal Motility
• Visceral muscle dysmotility syndrome of lupus
• Waardenburg Syndrome Type IV De Novo <em>SOX10</em> Variant Causing Chronic Intestinal Pseudo-Obstruction
• Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction
• Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report