Fogel BL. Childhood cerebellar ataxia. J Child Neurol. 2012;27(9):1138–45.
Article
PubMed
PubMed Central
Google Scholar
Smeets CJ, Verbeek DS. Climbing fibers in spinocerebellar ataxia: a mechanism for the loss of motor control. Neurobiol Dis. 2016;88:96–106.
Article
CAS
PubMed
Google Scholar
Utine GE, Haliloglu G, Salanci B, Cetinkaya A, Kiper PO, Alanay Y, Aktas D, Boduroglu K, Alikasifoglu M. A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy. J Child Neurol. 2013;28(7):926–32.
Article
PubMed
Google Scholar
Hills LB, Masri A, Konno K, Kakegawa W, Lam AT, Lim-Melia E, Chandy N, Hill RS, Partlow JN, Al-Saffar M, et al. Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. Neurology. 2013;81(16):1378–86.
Article
PubMed
PubMed Central
Google Scholar
Van Schil K, Meire F, Karlstetter M, Bauwens M, Verdin H, Coppieters F, Scheiffert E, Van Nechel C, Langmann T, Deconinck N, et al. Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion. Genetics in medicine : official journal of the American College of Medical Genetics. 2015;17(4):291–9.
Article
CAS
Google Scholar
Maier A, Klopocki E, Horn D, Tzschach A, Holm T, Meyer R, Meyer T. De novo partial deletion in GRID2 presenting with complicated spastic paraplegia. Muscle Nerve. 2014;49(2):289–92.
Article
CAS
PubMed
Google Scholar
Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S, Rougeot C, Cournelle MA, Milh M, Toutain A, et al. GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. Neurology. 2015;84(17):1751–9.
Article
CAS
PubMed
Google Scholar
Barkhof F, Fox N, Bastos-Leite A, Scheltens P. Neuroimaging in Dementia. Berlin, Heidelberg: Springer; 2011.
Book
Google Scholar
Ali Z, Klar J, Jameel M, Khan K, Fatima A, Raininko R, Baig S, Dahl N. Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities. J Neurol Sci. 2016;371:105–11.
Article
CAS
PubMed
Google Scholar
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38(16):e164.
Article
PubMed
PubMed Central
Google Scholar
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7(4):248–9.
Article
CAS
PubMed
PubMed Central
Google Scholar
Choi Y, Sims GE, Murphy S, Miller JR, Chan AP. Predicting the functional effect of amino acid substitutions and indels. PLoS One. 2012;7(10):e46688.
Article
CAS
PubMed
PubMed Central
Google Scholar
Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014;11(4):361–2.
Article
CAS
PubMed
Google Scholar
Reese MG, Eeckman FH, Kulp D, Haussler D. Improved splice site detection in genie. J Comput Biol. 1997;4(3):311–23.
Article
CAS
PubMed
Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in medicine : official journal of the American College of Medical Genetics. 2015;17(5):405–24.
Article
Google Scholar
gnomAD browser. [http://gnomad.broadinstitute.org]. Accessed 13 November 2017.
Traynelis SF, Wollmuth LP, McBain CJ, Menniti FS, Vance KM, Ogden KK, Hansen KB, Yuan H, Myers SJ, Dingledine R. Glutamate receptor ion channels: structure, regulation, and function. Pharmacol Rev. 2010;62(3):405–96.
Article
CAS
PubMed
PubMed Central
Google Scholar
NHLBI Exome Sequencing Project (ESP) Exome Variant Server. [http://evs.gs.washington.edu/EVS/]. Accessed 13 November 2017.
ExAC browser. [http://exac.broadinstitute.org/]. Accessed 13 November 2017.
ClinVar database. [https://www.ncbi.nlm.nih.gov/clinvar/]. Accessed 13 November 2017.
Moreland JL, Gramada A, Buzko OV, Zhang Q, Bourne PE. The molecular biology toolkit (MBT): a modular platform for developing molecular visualization applications. BMC Bioinformatics. 2005;6:21.
Article
PubMed
PubMed Central
Google Scholar
Krieger E, Vriend G. YASARA view - molecular graphics for all devices - from smartphones to workstations. Bioinformatics. 2014;30(20):2981–2.
Article
CAS
PubMed
PubMed Central
Google Scholar
Takayama C, Nakagawa S, Watanabe M, Mishina M, Inoue Y. Light- and electron-microscopic localization of the glutamate receptor channel delta 2 subunit in the mouse Purkinje cell. Neurosci Lett. 1995;188(2):89–92.
Article
CAS
PubMed
Google Scholar
Landsend AS, Amiry-Moghaddam M, Matsubara A, Bergersen L, Usami S, Wenthold RJ, Ottersen OP. Differential localization of delta glutamate receptors in the rat cerebellum: coexpression with AMPA receptors in parallel fiber-spine synapses and absence from climbing fiber-spine synapses. J Neurosci. 1997;17(2):834–42.
CAS
PubMed
Google Scholar
Kashiwabuchi N, Ikeda K, Araki K, Hirano T, Shibuki K, Takayama C, Inoue Y, Kutsuwada T, Yagi T, Kang Y, et al. Impairment of motor coordination, Purkinje cell synapse formation, and cerebellar long-term depression in GluR delta 2 mutant mice. Cell. 1995;81(2):245–52.
Article
CAS
PubMed
Google Scholar
Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, Fedirko E, Lejeune E, Cottineau J, Brusco A, et al. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. Brain. 2012;135(Pt 10):2980–93.
Article
PubMed
PubMed Central
Google Scholar
Khan TN, Klar J, Tariq M, Anjum Baig S, Malik NA, Yousaf R, Baig SM, Dahl N. Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation. Eur J Hum Genet. 2014;22(10):1180–4.
Article
CAS
PubMed
PubMed Central
Google Scholar
Elegheert J, Kakegawa W, Clay JE, Shanks NF, Behiels E, Matsuda K, Kohda K, Miura E, Rossmann M, Mitakidis N, et al. Structural basis for integration of GluD receptors within synaptic organizer complexes. Science. 2016;353(6296):295–9.
Article
CAS
PubMed
PubMed Central
Google Scholar
Kakegawa W, Miyoshi Y, Hamase K, Matsuda S, Matsuda K, Kohda K, Emi K, Motohashi J, Konno R, Zaitsu K, et al. D-serine regulates cerebellar LTD and motor coordination through the delta2 glutamate receptor. Nat Neurosci. 2011;14(5):603–11.
Article
CAS
PubMed
Google Scholar
Schuster J, Khan TN, Tariq M, Shaiq PA, Mabert K, Baig SM, Klar J. Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy. BMC Med Genet. 2014;15:71.
Article
PubMed
PubMed Central
Google Scholar