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

Novel compound heterozygous ALS2 mutations in two Chinese siblings with infantile ascending hereditary spastic paralysis.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jul 2015

Xie Fei, Cen Zhi-Dong, Xiao Jian-Feng, Luo Wei

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 Adolescent
Share to DNA Mutational Analysis
Share to Guanine Nucleotide Exchange Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Siblings

Share to Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 25433428
DOI: 10.1007/s10072-014-2018-8

Genes

ALS2

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

Novel compound heterozygous ALS2 mutations in two Chinese siblings with infantile ascending hereditary spastic paralysis.PMID 25433428Read ↗

A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis.Semantic proximity Read ↗

Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation.Semantic proximity Read ↗

A novel mutation in ALS2 associated with severe and progressive infantile onset of spastic paralysisSemantic proximity Read ↗

Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review.Semantic proximity Read ↗

First case of compound heterozygosity in <i>ALS2 </i>gene in infantile‐onset ascending spastic paralysis with bulbar involvementSemantic proximity Read ↗

Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia.Semantic proximity Read ↗

Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in Japan.Semantic proximity Read ↗

ALS2-related disorders in Spanish children: a severely affected case of infantile ascending spastic paraplegia due to homozygous R704X mutation.Semantic proximity Read ↗

Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS.Semantic proximity Read ↗

Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.Semantic proximity Read ↗

The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings.Semantic proximity Read ↗

Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.Semantic proximity Read ↗

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