An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred
- PMID: 12509863
- DOI: 10.1002/ana.10422
An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred
Similar articles
-
Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia.Amyotroph Lateral Scler Frontotemporal Degener. 2016;17(3-4):260-5. doi: 10.3109/21678421.2015.1125501. Epub 2016 Jan 11. Amyotroph Lateral Scler Frontotemporal Degener. 2016. PMID: 26751646
-
Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.Gene. 2014 Feb 15;536(1):217-20. doi: 10.1016/j.gene.2013.11.043. Epub 2013 Dec 4. Gene. 2014. PMID: 24315819
-
Primary lateral sclerosis, hereditary spastic paraplegia, and mutations in the alsin gene: historical background for the first International Conference.Amyotroph Lateral Scler Other Motor Neuron Disord. 2005 Jun;6(2):67-76. doi: 10.1080/14660820510039032. Amyotroph Lateral Scler Other Motor Neuron Disord. 2005. PMID: 16036429 Review. No abstract available.
-
A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis.Eur J Med Genet. 2014 May-Jun;57(6):275-8. doi: 10.1016/j.ejmg.2014.03.006. Epub 2014 Apr 3. Eur J Med Genet. 2014. PMID: 24704789
-
Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review.Eur J Paediatr Neurol. 2014 Mar;18(2):235-9. doi: 10.1016/j.ejpn.2013.09.009. Epub 2013 Oct 9. Eur J Paediatr Neurol. 2014. PMID: 24144828 Review.
Cited by
-
Alsin and the molecular pathways of amyotrophic lateral sclerosis.Mol Neurobiol. 2007 Dec;36(3):224-31. doi: 10.1007/s12035-007-0034-x. Epub 2007 Jul 10. Mol Neurobiol. 2007. PMID: 17955197 Free PMC article. Review.
-
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.Neurol Sci. 2018 Nov;39(11):1917-1925. doi: 10.1007/s10072-018-3526-8. Epub 2018 Aug 21. Neurol Sci. 2018. PMID: 30128655
-
Alsin related disorders: literature review and case study with novel mutations.Case Rep Genet. 2014;2014:691515. doi: 10.1155/2014/691515. Epub 2014 Sep 14. Case Rep Genet. 2014. PMID: 25302125 Free PMC article.
-
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.Am J Hum Genet. 2004 Nov;75(5):822-31. doi: 10.1086/425287. Epub 2004 Sep 15. Am J Hum Genet. 2004. PMID: 15372378 Free PMC article.
-
Experimental models for the study of neurodegeneration in amyotrophic lateral sclerosis.Mol Neurodegener. 2009 Jul 20;4:31. doi: 10.1186/1750-1326-4-31. Mol Neurodegener. 2009. PMID: 19619317 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources