Article

No genetic evidence for the association between COQ7 and Chinese patients with Amyotrophic Lateral Sclerosis

2023-07-11

Abstract excerpt

<title>Abstract</title><p>Background Amyotrophic lateral sclerosis (ALS) is a devastating progressive neurodegenerative disease. Recently, homozygous and compound heterozygous pathogenic variants in the<italic>COQ7</italic>gene were identified in patients with Hereditary Spastic Paraplegia (HSP), and distal hereditary motor neuropathy (dHMN). Inspired by the pathological, clinical and genetic overlap of these dise...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 3af4bb13-77ed-5677-8567-2a7ee0d77050
DOI: 10.21203/rs.3.rs-3109668/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

No genetic evidence for the association between COQ7 and Chinese patients with Amyotrophic Lateral SclerosisDOI 10.21203/rs.3.rs-3109668/v1Read

Validation of the pathogenic role of rare DNAJC7 variants in Chinese patients with amyotrophic lateral sclerosis.Semantic proximity Read

Mutations of DNAJC7 are rare in Chinese amyotrophic lateral sclerosis patients.Semantic proximity Read

Genetic and phenotypic spectrum of amyotrophic lateral sclerosis patients with CCNF variants from a large Chinese cohortSemantic proximity Read

Mutation spectrum of Chinese patients with familial and sporadic amyotrophic lateral sclerosisSemantic proximity Read

Association analysis of four candidate genetic variants with sporadic amyotrophic lateral sclerosis in a Chinese population.Semantic proximity Read

Screening for possible oligogenic pathogenesis in Chinese sporadic ALS patients.Semantic proximity Read

The complement C7 variant rs3792646 is associated with amyotrophic lateral sclerosis in a Han Chinese population.Semantic proximity Read

Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis.Semantic proximity Read

Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia.Semantic proximity Read

No evidence of association between polymorphisms in four genes and sporadic amyotrophic lateral sclerosis in Han Chinese.Semantic proximity Read

Mutation and clinical analysis of the CLCC1 gene in amyotrophic lateral sclerosis patients from Central South China.Semantic proximity Read

NOTCH2NLC GCC repeats are not expanded in Italian Amyotrophic Lateral Sclerosis patientsSemantic proximity Read