Article

Evidence for non-Mendelian inheritance in spastic paraplegia 7

2020-09-27

Abstract excerpt

Hereditary spastic paraplegia is a group of rare motor neuron diseases considered to be inherited in a classical monogenic Mendelian manner. Although the typical inheritance of spastic paraplegia type 7 is autosomal recessive, several reports have suggested that SPG7 variants may also cause autosomal dominant HSP. We aimed to conduct an exome-wide genetic analysis on a large Canadian cohort of hereditary spastic p...

Topics

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

Identifiers and source

Literature Corpus work: c1e6d1bc-ec1a-5dba-8f03-3fe6993741a5
DOI: 10.1101/2020.09.25.20176032

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Evidence for non-Mendelian inheritance in spastic paraplegia 7DOI 10.1101/2020.09.25.20176032Read

Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7.Semantic proximity Read

Clinical and genetic update of hereditary spastic paraparesis.Semantic proximity Read

Genetics of hereditary spastic paraplegias.Semantic proximity Read

Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort.Semantic proximity Read

Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11.Semantic proximity Read

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case reportSemantic proximity Read

Digenic inheritance of mutations in <i>SPG7</i> and <i>AFG3L2</i> causes motor neuron and cerebellar disordersSemantic proximity Read

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.Semantic proximity Read

Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families.Semantic proximity Read

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece.Semantic proximity Read

Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.Semantic proximity Read

Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.Semantic proximity Read