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

Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation.

Neurology - 23 Sept 2014

Di Bella Daniela, Pareyson Davide, Savoiardo Mario, Farina Laura, Ciano Claudia, Caldarazzo Serena, Sagnelli Anna, Bonato Sara, Nava Simone, Bresolin Nereo, Tedeschi Gioacchino, Taroni Franco, Salsano Ettore

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Chloride Channels
Share to Genetic Predisposition to Disease
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Homozygote

Share to Infertility, Male

Share to Leukodystrophy, Metachromatic

Share to Mutation

Source

Identifiers

PMID: 25128180
DOI: 10.1212/WNL.0000000000000812

Genes

CLCN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation.PMID 25128180Read ↗

A Novel CLCN1 Gene Mutation Associated with Hypokalemic Periodic Paralysis in a Pregnant Woman.Semantic proximity Read ↗

Pathogenic homozygous PLCZ1 mutation reduces sperm protein levels with a simulated reduction of PIP2 binding: a case report.Semantic proximity Read ↗

Novel N-terminal truncating CLCN1 mutation in severe Becker disease.Semantic proximity Read ↗

Hereditary leukodystrophies without identified mutations.Semantic proximity Read ↗

A novel splicing mutation in CLCNKB in a Chinese patient with Bartter syndrome type III.Semantic proximity Read ↗

Cavitating leukodystrophy in a case of mitochondrial complex III deficiency due to LYRM7 mutation.Semantic proximity Read ↗

Two Novel Protein-Truncating Variants in NLRP2 and Their Functional Impacts on the Subcortical Maternal Complex.Semantic proximity Read ↗

Secondary paroxysmal kinesigenic dyskinesia associated with CLCN2 gene mutation.Semantic proximity Read ↗

A maternally inherited autosomal point mutation in human phospholipase C zeta (PLCζ) leads to male infertility.Semantic proximity Read ↗

Novel homozygous variations in PLCZ1 lead to poor or failed fertilization characterized by abnormal localization patterns of PLCζ in spermSemantic proximity Read ↗

Macrothrombocytopenia, psychomotor retardation, and nephropathy: a novel familial syndrome.Semantic proximity Read ↗

Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia.Semantic proximity Read ↗

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