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

An atypical ALS with PSP-like symptoms caused by ANXA11 p.D40G mutation: A case report and literature review

16 Feb 2023

Abstract excerpt

Background ANXA11 mutations were first reported to be associated with amyotrophic lateral sclerosis (ALS) in 2017. Several studies have investigated the prevalence of ANXA11 mutations in different populations, while less is known about the spectrum of phenotypes and the genotype–phenotype correlation with this gene mutation. Case presentation Here, we report a 74-year-old man who was initially diagnosed with...

Read the complete abstract on PubMed

Topics

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

Share to Alzheimer's disease research and treatments
Share to Amyotrophic Lateral Sclerosis Research
Share to Cholinesterase and Neurodegenerative Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 36873447
DOI: 10.3389/fneur.2023.1086264

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An atypical ALS with PSP-like symptoms caused by ANXA11 p.D40G mutation: A case report and literature reviewPMID 36873447Read ↗

ANXA11 mutations are associated with amyotrophic lateral sclerosis–frontotemporal dementiaSemantic proximity Read ↗

The genetics of autosomal recessive ALS: a review of the common forms and their phenotypes.Semantic proximity Read ↗

Clinical and genetic characteristics of 1672 cases of amyotrophic lateral sclerosis in China: a single-center retrospective study.Semantic proximity Read ↗

ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia.Semantic proximity Read ↗

A patient carrying a heterozygous p.Asn267Ser TARDBP missense mutation diagnosed as ALS and only involving lower motor neurons.Semantic proximity Read ↗

The expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patientsSemantic proximity Read ↗

ALS phenotype is influenced by age, sex, and genetics: A population-based study.Semantic proximity Read ↗

Clinical phenotype of familial amyotrophic lateral sclerosis with SOD1 gene mutation mimicking proximal myopathy: A case report and literature review.Semantic proximity Read ↗

Hereditary spastic paraplegia.Semantic proximity Read ↗

Hereditary spastic paraplegia: More than an upper motor neuron disease.Semantic proximity Read ↗

SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.Semantic proximity Read ↗

Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder.Semantic proximity Read ↗

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