Ana M. Claasen

Affiliations: 
Anatomy & Structural Biology, Biochemistry University of Otago, Dunedin, Otago, New Zealand 
Area:
synaptic plasticity, alzheimer\'s disease, local protein synthesis, translation regulation, proteomics
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"Ana Claasen"
Mean distance: 17.02 (cluster 17)
 
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Publications

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Llaci L, Ramsey K, Belnap N, et al. (2019) Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD). Human Genetics. 138: 1409-1417
McCullough CG, Szelinger S, Belnap N, et al. (2019) Utilizing RNA and Outlier Analysis to Identify an Intronic Splice-Altering Variant in AP4S1 in a Sibling Pair with Progressive Spastic Paraplegia. Human Mutation
Gerald B, Ramsey K, Belnap N, et al. (2018) Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results. Seminars in Pediatric Neurology. 26: 28-32
Lessel D, Schob C, Küry S, et al. (2018) De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. American Journal of Human Genetics. 102: 196
Lessel D, Schob C, Küry S, et al. (2017) De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. American Journal of Human Genetics. 101: 716-724
Banuelos E, Ramsey K, Belnap N, et al. (2017) Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability. F1000research. 6: 553
Dunn P, Prigatano GP, Szelinger S, et al. (2017) A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. American Journal of Medical Genetics. Part A
Claasen AM, Guévremont D, Mason-Parker SE, et al. (2009) Secreted amyloid precursor protein-alpha upregulates synaptic protein synthesis by a protein kinase G-dependent mechanism. Neuroscience Letters. 460: 92-6
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