Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation.

Journal of neurology - 1 Jun 2005

Said Gérard, Lacroix Catherine, Planté-Bordeneuve Violaine, Messing Bernard, Slama Abdelhamid, Crenn Pascal, Nivelon-Chevallier Annie, Bedenne Laurent, Soichot Pierre, Manceau E, Rigaud Daniel, Guiochon-Mantel Anne, Matuchansky Claude

Abstract excerpt

We report on four patients with severe polyneuropathy associated with intestinal pseudoobstruction (MNGIE). Three patients presented characteristic supranuclear ophthalmoplegia, and hyperdense signals on T2 weighted cerebral MRI and dystrophic mitochondria in Schwann cells and in endothelial cells in nerve biopsy specimens. Two of these patients had a Charcot-Marie-Tooth (CMT) presentation. All three were...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cerebellum
Share to Charcot-Marie-Tooth Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gastrointestinal Diseases

Share to Microscopy, Electron, Transmission

Share to Mitochondrial Encephalomyopathies

Share to Nerve Fibers, Myelinated

Share to Neural Conduction

Share to Thymidine Phosphorylase

Source

Identifiers

PMID: 15742109
DOI: 10.1007/s00415-005-0712-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation.PMID 15742109Read ↗

Digestive smooth muscle mitochondrial myopathy in patients with mitochondrial-neuro-gastro-intestinal encephalomyopathy (MNGIE).Semantic proximity Read ↗

Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features.Semantic proximity Read ↗

Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.Semantic proximity Read ↗

Chronic intestinal pseudo-obstruction and neurological manifestations in early adulthood: considering MNGIE syndrome in differential diagnosis.Semantic proximity Read ↗

Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.Semantic proximity Read ↗

Mitochondrial neurogastrointestinal encephalomyopathy.Semantic proximity Read ↗

MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation.Semantic proximity Read ↗

[Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)].Semantic proximity Read ↗

Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers.Semantic proximity Read ↗

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.Semantic proximity Read ↗

Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder.Semantic proximity Read ↗

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.