Disease: Ophthalmoplegic Muscular dystrophy
- 4',6-Diamidino-2-Phenylindole Distinctly Labels Tau Deposits
- A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy
- A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation
- A novel thymidine phosphorylase mutation in a Chinese MNGIE patient
- A review of surgical management of progressive myogenic ptosis
- A Roma founder <em>BIN1</em> mutation causes a novel phenotype of centronuclear myopathy with rigid spine
- A South African family with oculopharyngeal muscular dystrophy: Clinical and molecular genetic characteristics
- Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy
- Blepharoptosis: diagnostic tests
- Brain White Matter Lesions and Presumed Crohn's Disease: Did You Consider MNGIE?
- CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations
- Chronic mimics of myasthenia gravis: a retrospective case series
- Circulating miRNAs as Biomarkers for Mitochondrial Neuro-Gastrointestinal Encephalomyopathy
- Clinical and imaging clues to the diagnosis and follow-up of ptosis and ophthalmoparesis
- Clinical features of the myasthenic syndrome arising from mutations in GMPPB
- Congenital myopathy with a novel SELN missense mutation and the challenge to differentiate it from congenital muscular dystrophy
- Congenital Titinopathy: Comprehensive characterization and pathogenic insights
- Correcting myogenic ptosis accompanying extraocular muscle weakness: The "Bobby Pin" procedure
- Diagnosing myasthenia gravis using orthoptic measurements: assessing extraocular muscle fatiguability
- Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies
- Digestive system disease as manifestation of the pleiotropic action of genes in mitochondrial dysfunction
- Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family
- Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides
- Elevated FGF 21 in myotonic dystrophy type 1 and mitochondrial diseases
- Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy
- Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy
- External Ophthalmoplegia and Brainstem White Matter Lesions: Presentation of Myotonic Dystrophy Type 1
- Eye movement changes in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
- Eye Muscle MRI in Myasthenia Gravis and Other Neuromuscular Disorders
- Eyelid ptosis (Blepharoptosis) for the primary care practitioner
- Fatal cachexia caused by mitochondrial neuro-gastro-intestinal encephalomyopathy
- Fourier-Transform Infrared Spectroscopy of Skeletal Muscle Tissue: Expanding Biomarkers in Primary Mitochondrial Myopathies
- Frontalis Suspension in Muscular Dystrophy: 16-years Follow-up
- Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal
- Gender effect on onset, prevalence and surgical treatment of cataract in patients with Myotonic Dystrophy type 1
- Genetic interaction of hnRNPA2B1 and DNAJB6 in a Drosophila model of multisystem proteinopathy
- Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 1: peripheral neuropathies
- GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy
- GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description
- Hematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalopathy: A single-center experience underscoring the multiple factors involved in the prognosis
- Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function
- HNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype
- Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure
- Increasing Role of Titin Mutations in Neuromuscular Disorders
- Intensive nutrition support may benefit patients with a rare mitochondrial disorder
- Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy
- Leukoencephalopathy with a case of heterozygous POLG mutation mimicking mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
- Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy
- Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy
- Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy
- Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy
- Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE
- Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches
- 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 disease
- Mitochondrial neurogastrointestinal encephalopathy syndrome
- Mitochondrial Neurogastrointestinal Encephalopathy: Clinical, Biochemical and Molecular Study in Three Egyptian Patients
- Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes
- Muscular Dystrophies Involving the Retinal Function
- Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children
- MyoNeuroGastroIntestinal Encephalopathy: Natural History and Means for Early Diagnosis
- Neuromuscular disorders in Israel: A model country for ethnic clusters
- 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
- Novel Mutations of the TYMP Gene in Mitochondrial Neurogastrointestinal Encephalomyopathy: Case Series and Literature Review
- Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report
- Novel sequence variations in the thymidine phosphorylase gene causing mitochondrial neurogastrointestinal encephalopathy
- Oculopharyngeal Weakness, Hypophrenia, Deafness, and Impaired Vision: A Novel Autosomal Dominant Myopathy with Rimmed Vacuoles
- Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China
- Ophthalmological Manifestations of Hereditary Myopathies
- 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
- Pearls & Oy-sters: Mitochondrial neurogastrointestinal encephalomyopathy: Diagnosis and response to peritoneal dialysis
- Pediatric Ophthalmoplegia and Ptosis in Epidermolysis Bullosa Simplex Associated With Muscular Dystrophy
- 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
- Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome
- Ptosis Correction
- Ptosis Correction
- Recent advances in liver transplantation for metabolic disease
- Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy
- Research progress of myosin heavy chain genes in human genetic diseases
- Response to: POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotypes
- Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature
- Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report
- Severe Ocular Complications After Blepharoptosis Correction in the Oculopharyngeal Muscular Dystrophy Patient: Literature Review and Case Presentation
- Slowly Progressive Ophthalmoplegia as a Presenting Symptom of Myotonic Dystrophy Type 1
- Spontaneous abdominal esophageal perforation in a patient with mitochondrial neurogastrointestinal encephalomyopathy
- Successful Sequential Liver and Isolated Intestine Transplantation for Mitochondrial Neurogastrointestinal Encephalopathy Syndrome: A Case Report
- The clinical eye
- The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency
- The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy
- 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
- Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy
- Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion
- 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