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

Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Mar 2013

Coon Elizabeth A, Daube Jasper R, Dejesus-Hernandez Mariely, Adeli Anahita, Savica Rodolfo, Parisi Joseph E, Dickson Dennis W, Josephs Keith A, Baker Matthew C, Johnson Kris A, Ivnik Robert J, Petersen Ronald C, Knopman David S, Boylan Kevin B, Rademakers Rosa, Boeve Bradley F

Abstract excerpt

Our objective was to characterize the motor neuron disease features within a large c9FTD/ALS kindred. We analyzed clinical, electrophysiologic and neuropathologic data in a c9FTD/ALS kindred of Scandinavian ancestry. Results showed that of six family members affected, three had only ALS, two had...

Read the complete abstract on PubMed

Topics

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

Share to Amyotrophic Lateral Sclerosis
Share to C9orf72 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Repeat Expansion

Share to Electrodiagnosis

Share to Polymorphism, Single Nucleotide

Share to Proteins

Share to Reproducibility of Results

Share to Sensitivity and Specificity

Source

Identifiers

PMID: 23035801
DOI: 10.3109/17482968.2012.724075

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23035801-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion.PMID 23035801Read ↗

Electrophysiological Characterization of C9ORF72-Associated Amyotrophic Lateral Sclerosis: A Retrospective Study.Semantic proximity Read ↗

C9orf72 gene repeat expansion phenotype profile of motor neurone disease in Portugal.Semantic proximity Read ↗

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.Semantic proximity Read ↗

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.Semantic proximity Read ↗

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.Semantic proximity Read ↗

C9orf72 repeat expansions are restricted to the ALS-FTD spectrumSemantic proximity Read ↗

The phenotypic variability of amyotrophic lateral sclerosis.Semantic proximity Read ↗

ALS-Plus syndrome: non-pyramidal features in a large ALS cohort.Semantic proximity Read ↗

Amyotrophic lateral sclerosis patients with various gene mutations show diverse motor phenotypes and survival in China.Semantic proximity Read ↗

Unconventional features of C9ORF72 expanded repeat in amyotrophic lateral sclerosis and frontotemporal lobar degenerationSemantic proximity Read ↗

Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p.Semantic proximity Read ↗

Extra-motor abnormalities in amyotrophic lateral sclerosis: another layer of heterogeneity.Semantic proximity Read ↗

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