Condition: NEUROPATHY, HEREDITARY SENSORY, TYPE ID


rs119476046 in ATL1 gene and NEUROPATHY, HEREDITARY SENSORY, TYPE ID PMID 23079343 2013 Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking.

PMID 20947813 2010 Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3.

PMID 24482476 2014 Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

PMID 25761634 2015 ER network formation and membrane fusion by atlastin1/SPG3A disease variants.

PMID 25637064 2015 De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling.

PMID 11685207 2001 Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.

PMID 20816793 2011 The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1.

PMID 23233086 2013 SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism.