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Ana M. Claasen - Publications

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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8 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Llaci L, Ramsey K, Belnap N, Claasen AM, Balak CD, Szelinger S, Jepsen WM, Siniard AL, Richholt R, Izat T, Naymik M, De Both M, Piras IS, Craig DW, Huentelman MJ, et al. Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD). Human Genetics. 138: 1409-1417. PMID 31748968 DOI: 10.1007/S00439-019-02077-7  0.361
2019 McCullough CG, Szelinger S, Belnap N, Ramsey K, Schrauwen I, Claasen AM, Burke LW, Siniard AL, Huentelman MJ, Narayanan V, Craig DW. Utilizing RNA and Outlier Analysis to Identify an Intronic Splice-Altering Variant in AP4S1 in a Sibling Pair with Progressive Spastic Paraplegia. Human Mutation. PMID 31660686 DOI: 10.1002/Humu.23939  0.319
2018 Gerald B, Ramsey K, Belnap N, Szelinger S, Siniard AL, Balak C, Russell M, Richholt R, De Both M, Claasen AM, Schrauwen I, Huentelman MJ, Craig DW, Rangasamy S, Narayanan V. 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. PMID 29961512 DOI: 10.1016/J.Spen.2017.08.008  0.321
2018 Lessel D, Schob C, Küry S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, ... ... Claasen A, et al. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. American Journal of Human Genetics. 102: 196. PMID 29304375 DOI: 10.1016/J.Ajhg.2017.12.016  0.322
2017 Lessel D, Schob C, Küry S, Reinders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, ... ... Claasen A, et al. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. American Journal of Human Genetics. 101: 716-724. PMID 29100085 DOI: 10.1016/J.Ajhg.2017.09.014  0.395
2017 Banuelos E, Ramsey K, Belnap N, Krishnan M, Balak C, Szelinger S, Siniard AL, Russell M, Richholt R, De Both M, Piras I, Naymik M, Claasen AM, Rangasamy S, Huentelman MJ, et al. 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. PMID 28663785 DOI: 10.12688/F1000Research.10588.1  0.342
2017 Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, et al. A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. American Journal of Medical Genetics. Part A. PMID 28139025 DOI: 10.1002/Ajmg.A.38069  0.359
2009 Claasen AM, Guévremont D, Mason-Parker SE, Bourne K, Tate WP, Abraham WC, Williams JM. Secreted amyloid precursor protein-alpha upregulates synaptic protein synthesis by a protein kinase G-dependent mechanism. Neuroscience Letters. 460: 92-6. PMID 19463893 DOI: 10.1016/J.Neulet.2009.05.040  0.32
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