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

Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiency.

Neurology - 24 Mar 2015

Haliloglu Goknur, Maluenda Jérome, Sayinbatur Bahattin, Aumont Cedric, Temucin Cagri, Tavil Betul, Cetin Mualla, Oguz Kader K, Gut Ivo, Picard Veronique, Melki Judith, Topaloglu Haluk

Abstract excerpt

OBJECTIVE: To identify the underlying etiology of 3 patients in a multiplex family with strokes, chronic immune-mediated peripheral neuropathy, and hemolysis. All had onset in infancy. METHODS: We performed genome-wide linkage analysis followed by whole exome sequencing (WES) in the proband, Sanger sequencing, and segregation analysis of putative mutations. In addition, we conducted flow cytometry studies to...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Anemia, Hemolytic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Autoimmune Diseases of the Nervous System

Share to CD59 Antigens

Share to Hemolysis

Share to Mutation, Missense

Share to Stroke

Share to Turkey

Source

Identifiers

PMID: 25716358
DOI: 10.1212/WNL.0000000000001391

Variants

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

Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiency.PMID 25716358Read ↗

Demyelination, strokes, and eculizumab: Lessons from the congenital CD59 gene mutations.Semantic proximity Read ↗

CD59 deficiency presenting as polyneuropathy and Moyamoya syndrome with endothelial abnormalities of small brain vessels.Semantic proximity Read ↗

CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathySemantic proximity Read ↗

Prothrombotic mechanisms in patients with congenital p.Cys89Tyr mutation in CD59.Semantic proximity Read ↗

Recurrent Demyelinating Episodes as Sole Manifestation of Inherited CD59 Deficiency.Semantic proximity Read ↗

Devastating recurrent brain ischemic infarctions and retinal disease in pediatric patients with CD59 deficiency.Semantic proximity Read ↗

ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum.Semantic proximity Read ↗

CD59 gene: 143 haplotypes of 22,718 nucleotides length by computational phasing in 113 individuals from different ethnicities.Semantic proximity Read ↗

Molecular pathogenesis of human CD59 deficiencySemantic proximity Read ↗

Tracing a Rare Genetic Disease: Familial Congenital CD59 Deficiency and Carrier Cases Identified Through Village Screening.Semantic proximity Read ↗

Dysmorphic features, cognitive disability, chronic inflammation, and predisposition to vascular disease in two sisters: a new autosomal recessive disorder?Semantic proximity Read ↗

A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke.Semantic proximity Read ↗

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