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Hereditary spastic paraplegia 72
- ... UK and Irish HSP Consortium. Clinical features of hereditary spastic paraplegia due to spastin mutation. Neurology. 2006 Jul 11;67(1):45-51. doi: 10.1212/01.wnl.0000223315.62404.00. Erratum In: Neurology. 2009 Apr 28;72(17):1534. Citation on PubMed Rattay TW, Boldt ...
- ... callosum. Nat Genet. 2007 Mar;39(3):366-72. doi: 10.1038/ng1980. Epub 2007 Feb 18. Citation on PubMed
- ... system. Spastic paraplegia type 49 is a complex hereditary spastic paraplegia.Spastic paraplegia type 49 often begins with weak ... paraplegia 49, autosomal recessive SPG49 Genetic Testing Registry: Hereditary spastic paraplegia 49 Genetic Testing Registry: Hereditary spastic paraplegia Hereditary ...
- ... mutations are common in familial cases of complicated hereditary spastic paraplegia. Neurology. 2008 Apr 15;70(16 Pt 2): ... H. Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11). Eur J Neurol. ...
- ... in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. Am J Hum Genet. 2012 Dec 7;91(6):1065-72. doi: 10.1016/j.ajhg.2012.09.015. ...