000139142 001__ 139142
000139142 005__ 20240321220549.0
000139142 0247_ $$2doi$$a10.1093/brain/aww307
000139142 0247_ $$2pmid$$apmid:28137957
000139142 0247_ $$2pmc$$apmc:PMC5278306
000139142 0247_ $$2ISSN$$a0006-8950
000139142 0247_ $$2ISSN$$a1460-2156
000139142 0247_ $$2altmetric$$aaltmetric:16092692
000139142 037__ $$aDZNE-2020-05464
000139142 041__ $$aEnglish
000139142 082__ $$a610
000139142 1001_ $$aEstrada-Cuzcano, Alejandro$$b0
000139142 245__ $$aLoss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
000139142 260__ $$aOxford$$bOxford Univ. Press$$c2017
000139142 264_1 $$2Crossref$$3online$$bOxford University Press (OUP)$$c2017-01-30
000139142 264_1 $$2Crossref$$3print$$bOxford University Press (OUP)$$c2017-02-01
000139142 3367_ $$2DRIVER$$aarticle
000139142 3367_ $$2DataCite$$aOutput Types/Journal article
000139142 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1592813751_3872
000139142 3367_ $$2BibTeX$$aARTICLE
000139142 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000139142 3367_ $$00$$2EndNote$$aJournal Article
000139142 520__ $$aHereditary spastic paraplegias are heterogeneous neurodegenerative disorders characterized by progressive spasticity of the lower limbs due to degeneration of the corticospinal motor neurons. In a Bulgarian family with three siblings affected by complicated hereditary spastic paraplegia, we performed whole exome sequencing and homozygosity mapping and identified a homozygous p.Thr512Ile (c.1535C > T) mutation in ATP13A2. Molecular defects in this gene have been causally associated with Kufor-Rakeb syndrome (#606693), an autosomal recessive form of juvenile-onset parkinsonism, and neuronal ceroid lipofuscinosis (#606693), a neurodegenerative disorder characterized by the intracellular accumulation of autofluorescent lipopigments. Further analysis of 795 index cases with hereditary spastic paraplegia and related disorders revealed two additional families carrying truncating biallelic mutations in ATP13A2. ATP13A2 is a lysosomal P5-type transport ATPase, the activity of which critically depends on catalytic autophosphorylation. Our biochemical and immunocytochemical experiments in COS-1 and HeLa cells and patient-derived fibroblasts demonstrated that the hereditary spastic paraplegia-associated mutations, similarly to the ones causing Kufor-Rakeb syndrome and neuronal ceroid lipofuscinosis, cause loss of ATP13A2 function due to transcript or protein instability and abnormal intracellular localization of the mutant proteins, ultimately impairing the lysosomal and mitochondrial function. Moreover, we provide the first biochemical evidence that disease-causing mutations can affect the catalytic autophosphorylation activity of ATP13A2. Our study adds complicated hereditary spastic paraplegia (SPG78) to the clinical continuum of ATP13A2-associated neurological disorders, which are commonly hallmarked by lysosomal and mitochondrial dysfunction. The disease presentation in our patients with hereditary spastic paraplegia was dominated by an adult-onset lower-limb predominant spastic paraparesis. Cognitive impairment was present in most of the cases and ranged from very mild deficits to advanced dementia with fronto-temporal characteristics. Nerve conduction studies revealed involvement of the peripheral motor and sensory nerves. Only one of five patients with hereditary spastic paraplegia showed clinical indication of extrapyramidal involvement in the form of subtle bradykinesia and slight resting tremor. Neuroimaging cranial investigations revealed pronounced vermian and hemispheric cerebellar atrophy. Notably, reduced striatal dopamine was apparent in the brain of one of the patients, who had no clinical signs or symptoms of extrapyramidal involvement.
000139142 536__ $$0G:(DE-HGF)POF3-345$$a345 - Population Studies and Genetics (POF3-345)$$cPOF3-345$$fPOF III$$x0
000139142 536__ $$0G:(DE-HGF)POF3-344$$a344 - Clinical and Health Care Research (POF3-344)$$cPOF3-344$$fPOF III$$x1
000139142 588__ $$aDataset connected to CrossRef, PubMed,
000139142 650_7 $$2NLM Chemicals$$aATP13A2 protein, human
000139142 650_7 $$2NLM Chemicals$$aEnzyme Inhibitors
000139142 650_7 $$2NLM Chemicals$$aLeupeptins
000139142 650_7 $$0EC 3.6.3.14$$2NLM Chemicals$$aProton-Translocating ATPases
000139142 650_7 $$0RF1P63GW3K$$2NLM Chemicals$$abenzyloxycarbonylleucyl-leucyl-leucine aldehyde
000139142 650_2 $$2MeSH$$aAdult
000139142 650_2 $$2MeSH$$aAnimals
000139142 650_2 $$2MeSH$$aCells, Cultured: cytology
000139142 650_2 $$2MeSH$$aCells, Cultured: ultrastructure
000139142 650_2 $$2MeSH$$aChlorocebus aethiops
000139142 650_2 $$2MeSH$$aCognition Disorders: etiology
000139142 650_2 $$2MeSH$$aCognition Disorders: genetics
000139142 650_2 $$2MeSH$$aEnzyme Inhibitors: pharmacology
000139142 650_2 $$2MeSH$$aFamily Health
000139142 650_2 $$2MeSH$$aGene Expression Regulation: drug effects
000139142 650_2 $$2MeSH$$aGene Expression Regulation: genetics
000139142 650_2 $$2MeSH$$aGenetic Predisposition to Disease: genetics
000139142 650_2 $$2MeSH$$aHumans
000139142 650_2 $$2MeSH$$aLeupeptins: pharmacology
000139142 650_2 $$2MeSH$$aLysosomes: drug effects
000139142 650_2 $$2MeSH$$aLysosomes: metabolism
000139142 650_2 $$2MeSH$$aLysosomes: ultrastructure
000139142 650_2 $$2MeSH$$aMale
000139142 650_2 $$2MeSH$$aMental Disorders: etiology
000139142 650_2 $$2MeSH$$aMental Disorders: genetics
000139142 650_2 $$2MeSH$$aMiddle Aged
000139142 650_2 $$2MeSH$$aMitochondria: drug effects
000139142 650_2 $$2MeSH$$aMitochondria: metabolism
000139142 650_2 $$2MeSH$$aMitochondria: ultrastructure
000139142 650_2 $$2MeSH$$aMutation: genetics
000139142 650_2 $$2MeSH$$aNeuropsychological Tests
000139142 650_2 $$2MeSH$$aProton-Translocating ATPases: genetics
000139142 650_2 $$2MeSH$$aPsychiatric Status Rating Scales
000139142 650_2 $$2MeSH$$aSpastic Paraplegia, Hereditary: complications
000139142 650_2 $$2MeSH$$aSpastic Paraplegia, Hereditary: diagnostic imaging
000139142 650_2 $$2MeSH$$aSpastic Paraplegia, Hereditary: genetics
000139142 7001_ $$aMartin, Shaun$$b1
000139142 7001_ $$aChamova, Teodora$$b2
000139142 7001_ $$0P:(DE-2719)2811275$$aSynofzik, Matthis$$b3$$udzne
000139142 7001_ $$aTimmann, Dagmar$$b4
000139142 7001_ $$aHolemans, Tine$$b5
000139142 7001_ $$aAndreeva, Albena$$b6
000139142 7001_ $$0P:(DE-HGF)0$$aReichbauer, Jennifer$$b7
000139142 7001_ $$aDe Rycke, Riet$$b8
000139142 7001_ $$aChang, Dae-In$$b9
000139142 7001_ $$avan Veen, Sarah$$b10
000139142 7001_ $$aSamuel, Jean$$b11
000139142 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b12$$udzne
000139142 7001_ $$aPöppel, Thorsten$$b13
000139142 7001_ $$aMollerup Sørensen, Danny$$b14
000139142 7001_ $$aAsselbergh, Bob$$b15
000139142 7001_ $$aKlein, Christine$$b16
000139142 7001_ $$aZuchner, Stephan$$b17
000139142 7001_ $$0P:(DE-HGF)0$$aJordanova, Albena$$b18$$eCorresponding author
000139142 7001_ $$aVangheluwe, Peter$$b19
000139142 7001_ $$aTournev, Ivailo$$b20
000139142 7001_ $$0P:(DE-2719)2812018$$aSchüle, Rebecca$$b21$$eLast author$$udzne
000139142 77318 $$2Crossref$$3journal-article$$a10.1093/brain/aww307$$b : Oxford University Press (OUP), 2017-01-30$$n2$$p287-305$$tBrain$$v140$$x0006-8950$$y2017
000139142 773__ $$0PERI:(DE-600)1474117-9$$a10.1093/brain/aww307$$gVol. 140, no. 2, p. 287 - 305$$n2$$p287-305$$q140:2<287 - 305$$tBrain$$v140$$x0006-8950$$y2017
000139142 8567_ $$2Pubmed Central$$uhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC5278306
000139142 909CO $$ooai:pub.dzne.de:139142$$pVDB
000139142 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2811275$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b3$$kDZNE
000139142 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2810795$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b12$$kDZNE
000139142 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2812018$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b21$$kDZNE
000139142 9131_ $$0G:(DE-HGF)POF3-345$$1G:(DE-HGF)POF3-340$$2G:(DE-HGF)POF3-300$$aDE-HGF$$bForschungsbereich Gesundheit$$lErkrankungen des Nervensystems$$vPopulation Studies and Genetics$$x0
000139142 9131_ $$0G:(DE-HGF)POF3-344$$1G:(DE-HGF)POF3-340$$2G:(DE-HGF)POF3-300$$aDE-HGF$$bForschungsbereich Gesundheit$$lErkrankungen des Nervensystems$$vClinical and Health Care Research$$x1
000139142 9141_ $$y2017
000139142 915__ $$0StatID:(DE-HGF)0420$$2StatID$$aNationallizenz$$d2022-11-09$$wger
000139142 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2022-11-09
000139142 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2022-11-09
000139142 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2022-11-09
000139142 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2022-11-09
000139142 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews$$d2022-11-09
000139142 915__ $$0StatID:(DE-HGF)1110$$2StatID$$aDBCoverage$$bCurrent Contents - Clinical Medicine$$d2022-11-09
000139142 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences$$d2022-11-09
000139142 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bBRAIN : 2021$$d2022-11-09
000139142 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search$$d2022-11-09
000139142 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC$$d2022-11-09
000139142 915__ $$0StatID:(DE-HGF)9915$$2StatID$$aIF >= 15$$bBRAIN : 2021$$d2022-11-09
000139142 9201_ $$0I:(DE-2719)1210000$$kAG Gasser 1$$lParkinson Genetics$$x0
000139142 9201_ $$0I:(DE-2719)5000005$$kAG Schöls 1$$lClinical Neurogenetics$$x1
000139142 9201_ $$0I:(DE-2719)5000024$$kAG Maetzler$$lFunctional Neurogeriatrics$$x2
000139142 980__ $$ajournal
000139142 980__ $$aVDB
000139142 980__ $$aI:(DE-2719)1210000
000139142 980__ $$aI:(DE-2719)5000005
000139142 980__ $$aI:(DE-2719)5000024
000139142 980__ $$aUNRESTRICTED
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/nmeth0410-248$$o10.1038/nmeth0410-248
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s00415-009-0083-3$$o10.1007/s00415-009-0083-3
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1001/jamaneurol.2013.1174$$o10.1001/jamaneurol.2013.1174
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.22996$$o10.1002/mds.22996
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/hmg/dds089$$o10.1093/hmg/dds089
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/S0092-8674(00)81203-9$$o10.1016/S0092-8674(00)81203-9
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1172/JCI77598$$o10.1172/JCI77598
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/ajmg.b.31214$$o10.1002/ajmg.b.31214
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1101/gr.3577405$$o10.1101/gr.3577405
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/jnr.23112$$o10.1002/jnr.23112
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.parkreldis.2010.10.011$$o10.1016/j.parkreldis.2010.10.011
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1055/s-0034-1389161$$o10.1055/s-0034-1389161
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.neurobiolaging.2011.11.012$$o10.1016/j.neurobiolaging.2011.11.012
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1073/pnas.1112368109$$o10.1073/pnas.1112368109
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/01.wnl.0000260963.08711.08$$o10.1212/01.wnl.0000260963.08711.08
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.22728$$o10.1002/mds.22728
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.26129$$o10.1002/mds.26129
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.nbd.2011.02.009$$o10.1016/j.nbd.2011.02.009
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.neulet.2010.03.018$$o10.1016/j.neulet.2010.03.018
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s00401-013-1115-8$$o10.1007/s00401-013-1115-8
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.jns.2012.03.025$$o10.1016/j.jns.2012.03.025
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/nature15393$$o10.1038/nature15393
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/ng.300$$o10.1038/ng.300
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/humu.22836$$o10.1002/humu.22836
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/ejhg.2013.29$$o10.1038/ejhg.2013.29
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/nar/gku1071$$o10.1093/nar/gku1071
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.neurobiolaging.2011.12.035$$o10.1016/j.neurobiolaging.2011.12.035
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.23552$$o10.1002/mds.23552
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.nbd.2011.12.015$$o10.1016/j.nbd.2011.12.015
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1086/339935$$o10.1086/339935
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/WNL.0b013e3182556c05$$o10.1212/WNL.0b013e3182556c05
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/NXG.0000000000000098$$o10.1212/NXG.0000000000000098
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1073/pnas.1508220112$$o10.1073/pnas.1508220112
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/gim.2015.139$$o10.1038/gim.2015.139
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mus.24980$$o10.1002/mus.24980
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/nprot.2015.053$$o10.1038/nprot.2015.053
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/nar/gkt1026$$o10.1093/nar/gkt1026
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/hmg/ddu099$$o10.1093/hmg/ddu099
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/nprot.2009.86$$o10.1038/nprot.2009.86
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/bioinformatics/btp324$$o10.1093/bioinformatics/btp324
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.expneurol.2014.06.011$$o10.1016/j.expneurol.2014.06.011
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1080/15384101.2015.1093420$$o10.1080/15384101.2015.1093420
000139142 999C5 $$2Crossref$$oMartin 2016$$y2016
000139142 999C5 $$2Crossref$$oMaruyama 1989$$y1989
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1074/jbc.274.36.25227$$o10.1074/jbc.274.36.25227
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1101/gr.107524.110$$o10.1101/gr.107524.110
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.20800$$o10.1002/mds.20800
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/awv320$$o10.1093/brain/awv320
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.ajhg.2013.04.011$$o10.1016/j.ajhg.2013.04.011
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.ajhg.2013.04.018$$o10.1016/j.ajhg.2013.04.018
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.26243$$o10.1002/mds.26243
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/hmg/ddt623$$o10.1093/hmg/ddt623
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/humu.21527$$o10.1002/humu.21527
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/ng937$$o10.1038/ng937
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.ajhg.2013.04.013$$o10.1016/j.ajhg.2013.04.013
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.bbrc.2011.11.016$$o10.1016/j.bbrc.2011.11.016
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1385/CBB:46:3:303$$o10.1385/CBB:46:3:303
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1371/journal.pone.0039942$$o10.1371/journal.pone.0039942
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.22399$$o10.1002/mds.22399
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/ng1884$$o10.1038/ng1884
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/hmg/ddr606$$o10.1093/hmg/ddr606
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/acn3.64$$o10.1002/acn3.64
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/nbt.2053$$o10.1038/nbt.2053
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.bbamem.2015.04.008$$o10.1016/j.bbamem.2015.04.008
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1111/j.1552-6569.2008.00327.x$$o10.1111/j.1552-6569.2008.00327.x
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.23464$$o10.1002/mds.23464
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.bbrc.2009.03.151$$o10.1016/j.bbrc.2009.03.151
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/nmeth.2089$$o10.1038/nmeth.2089
000139142 999C5 $$2Crossref$$oSchneider 2013$$y2013
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.22947$$o10.1002/mds.22947
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/01.wnl.0000228242.53336.90$$o10.1212/01.wnl.0000228242.53336.90
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/ana.24611$$o10.1002/ana.24611
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/hmg/ddt057$$o10.1093/hmg/ddt057
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.ajhg.2012.10.017$$o10.1016/j.ajhg.2012.10.017
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/nmeth.2890$$o10.1038/nmeth.2890
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/nar/29.1.308$$o10.1093/nar/29.1.308
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1074/jbc.M112.387191$$o10.1074/jbc.M112.387191
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/awt326$$o10.1093/brain/awt326
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/aww079$$o10.1093/brain/aww079
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1074/jbc.M111.233874$$o10.1074/jbc.M111.233874
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.ajhg.2012.11.001$$o10.1016/j.ajhg.2012.11.001
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/BF00690197$$o10.1007/BF00690197
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.4161/auto.20256$$o10.4161/auto.20256
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1523/JNEUROSCI.5575-11.2012$$o10.1523/JNEUROSCI.5575-11.2012
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.3389/fnmol.2014.00001$$o10.3389/fnmol.2014.00001
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1073/pnas.0906797106$$o10.1073/pnas.0906797106
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/awt227$$o10.1093/brain/awt227
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.mito.2010.07.006$$o10.1016/j.mito.2010.07.006
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1371/journal.pone.0055526$$o10.1371/journal.pone.0055526
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/ng.712$$o10.1038/ng.712
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.ajhg.2011.07.002$$o10.1016/j.ajhg.2011.07.002
000139142 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.20511$$o10.1002/mds.20511