+ Site Statistics
References:
54,258,434
Abstracts:
29,560,870
PMIDs:
28,072,757
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Translate
+ Recently Requested

Novel human pathological mutations. Gene symbol: SPAST. Disease: Hereditary spastic paraplegia



Novel human pathological mutations. Gene symbol: SPAST. Disease: Hereditary spastic paraplegia



Human Genetics 127(1): 112




(PDF emailed within 1 workday: $29.90)

Accession: 054672386

Download citation: RISBibTeXText

PMID: 20108387


Related references

Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant. Human Genetics 126(2): 340, 2009

Mutations in the SPAST gene causing hereditary spastic paraplegia are related to global topological alterations in brain functional networks. Neurological Sciences 2019, 2019

SPAST mutations in Australian patients with hereditary spastic paraplegia. Internal Medicine Journal 42(12): 1342-1347, 2013

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations. Journal of Neurology, Neurosurgery, and Psychiatry 81(10): 1073-1078, 2010

Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males. Journal of the Neurological Sciences 306(1-2): 62-65, 2011

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations. Disease Models and Mechanisms 8(10): 1339, 2015

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations. Disease Models and Mechanisms 6(2): 489-502, 2013

Truncating mutations of SPAST associated with hereditary spastic paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin. Molecular Biology of the Cell 28(13): 1728-1737, 2017

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. Journal of Neurology, Neurosurgery, and Psychiatry 88(8): 681-687, 2017

A novel pathogenic variant of the SPAST gene in a Spanish family with hereditary spastic paraplegia. Neurologia 2018, 2018

A case report of a woman with young onset cognitive impairment associated with hereditary spastic paraplegia due to a mutation in the SPAST gene. Journal of the Neurological Sciences 367: 131-132, 2017

Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0554. Human Genetics 118(6): 782, 2007

Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hd0519. Human Genetics 118(6): 776, 2007

Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0553. Human Genetics 118(6): 782, 2007

Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0557. Human Genetics 118(6): 783, 2007