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        • Adrenukod2EpsGG9997`Essitre'201463 >FlMedi0raneXf'292Fז440 FH'▏Oo5 >Gai'7495 >/כ9178 >Lesch-Ny?Wu1133pMarupri@ם?323XMenk`׃479hM`onǠǢ66 >Ny79(pyfibaңߥXNieߣ__2ȧYGl413pPylke2574Ara-WilliOg76qRefsum7]8860Retg3092S𡆽įW3071ۿ߱g'448T±WF604PTay-Sachsg839AubXu8W964V`Hippel-LindauG%62am߹ﻯ3Ё8经OL455Zweg=/

          An(uko/bp8pmlns=""OOy (ALD)are,ndetabolisor0hatfftspeoungoyo@zodon@whos`torytold03m "oil."Ɂp,"fattyoH (myelXsheath) n8@is5bralost,҅ayglad ates,ead torogressinlogicab@.[imgnecex="46"/gaPeowith ccum teighXvelfatud, HypchacidirAUcortexecauӏotokeown xymenor ier.o!1@ aZPtaurprI0pontexIRcmhamilytranȇ(rŎh&.t)st8Iyȅ8hhowbOXffe%functiPo,o؄H,_Zxʗ4.؞ǞMȓentlyHwsxoy proteinaveeenound theeast Saccharomyceserevisiae,ၐaouse0del0r humanisHpas+developed.heor0leculariologyp0ac@houldurbour perstingfLDht!0gressowardffectiapies.

          GenD3 > 17985ervxy(mAlzheim*C7sc@hstudy iiZ9hiptw鲡variٕx (par—$_b21)ownvirona`or!)on'Iscepti?AD.cĶ/)?yifienzyH(t0yspib0 HҕydYIawzgptY;rnyLslowArlpeo_____________myotrophЫsclerosisLS"aeuogic0Hord_Yذwerfmo؂Kũ$splr,@h is9Xaly)ɼBؠ-DfnНLouehrig⿰b2ؠNeworkankeےz19201930who1rcretiH9Zcon0ax߲H0065I9amearchii( `wo۶SOD1ׇ)bg_manysDSִi񴈃2carr uverymportantunK:ز8movdȘ(hsuXoxadi@onmoon-Xmfu0ubsHces.eXl׫eপ attack s,DSeȲ\זA$0@,kex lerSoC1qocwu󒖹Agge@!t;drug "8snef9p9.ȬXX!пڳ_кilAsignIa@hyrequdeXrmişz+lyndpOO73nomm82l74Qاardbnorait0peeimpairюeizu`ؙp prppyѼXluxhlaugh@qIIexcitabtyC(ȾɄпɟirdershe "happyuppet"yndrome.

          TpgeneticasisfS Hveryomplex,utmajorityAcasesreueoel`on9segment 15q11q13 #ternallyrivedhos(x.heYxsaregmissing懀Zpgge,n ireaifferdisor,raWilliF,sults.Ԅ!ppn--exp@st5ialXpendnrtbeinitfmo2or*fam8XomXimpring. ubiquiig8* (UBE3A)found(Ћ{.tdfRzythat ae(artaellularrotedegasystem.thoughoccurmutjsZQruptbreakowugaZvelop6Inmou@ml+canisd0chȕGywĈ birn>litЗHow(Jcelsonp(hippocampu `cb9mdot @bmolec2techn0helpуplearpoabo̙XНw1

          GЇDisep > 17985Nerv`ӓAtaxialangi aorstigЗQ (A-T)u­(secopylifК lackbaHЏAslurrspe2jgvحxy(rizb|on,munficiyadiosensv(oy apgs9x-ray){)eIo9qo(r=50B1988"piblX m0g11ubseXpidȤÙԨaAi 07kstilumATM9cloneddrsymptom`ÅrefH@rȻTM, i(oHdusa6LDN`amչɪediehalQworkCah8RodoXyo0ct miSCǴST- wxhway&sBeca!_c`br9t(evoluӽȜlike끱鴀ъw6.҉arnfг2I)apAsu8q#(sYp*ticshowЬXi١HctudywMm|C8cotMarieToȚ nd'(CMnamIf ithrec!aah,tu𻔑ury5rohcommPinippluroIy]lخahowxHW^musclHf, Pleg,(nm|mild@s¯񨫵limbЗXgt@.u@'Pc8Coccu30.ڢx@KHSord^rq>saJheoi&Ȭ#=Ѻ0pB žnZQeJonbp7pp0\q.ϸHݓ8kTyp A#򹑀򹰳* 17br 0od{輸(PMP22nXco9wXv wi0myeityheaortʿir 􆰇7nclu[Butal-sX-kϴ̽iچܚAQT깡al@/nPDej0neSottak (DSS),os(ٚ75areresented,utheyreo(severe.ҁ archntonderstandingathogenesisfMT,Xrough useanimaldelsordise,houldlsoivexsightDSSdayead Xxrapiekbothus.

          GARD > 17985TNervousystemCockaynyndromb>*Edwardlfred (18801956),fterhom namawaondonhysicianoncrarticularly XeditaryNchildren.-ainxior08ipeopleړsithsunl!,art tur“1app0a!m2g@.nbclasp8mrDž(TypeɊPsymptomprogsqtypibecy0nt,g10.n pset 0oI)6tirthestly,0likNAepair,_otinkXcqr.+img>pci@x="47"/71AexUV(diati(fo0wi0g=XYrxra ta8H"_,nown X"xnscrip-couhd."ԙ1noccur(AflyУъth(cteЛqbHgl(.wdefec:(SACSBbeendxifi8fq!cmos(5.§ۅiga"xcts#xpon譢A7(IanehɍʓWN'a>EscqЎ oli0um8Irgo''%[asiui݊0hѲȝʊ(coq!himiechs@ humظinvaluab@studymoleBcolv0apowuu8niquPbAtywwillHlpPrl''y(t@druarget|DeafPs77>HPlosJexte((mѤ8BanyifhfXolgebout@1#xȨhimmXxhal9ou؏ؐ 8i@.̈́9d\exisbc"B˾nm񫨻!Euroxop(!au`(жpnn 26 (pCxk)hXrrir@3%,·PcxfibroXi 20%Ѥldhood___X35_[M_>ܽ]hn--dVacbysymptomsuchb d_XloRs13q11-12õfaapunHܿlO6.ǁO|plaЩmb8nellowvؙ ZmĒj(wadjallDir ҄@Yma@ Ѥ`assh躠awh orۂ-fAu@.t*rh` m_ ruptirMsul9߹ܿaexHn?Wabdiagnפnt.Ł:8&h}g;oplanguоZsocskh@e8sdP(hy (DMD))o(roupiharaciz+nHτ. ߯valtypgWndsharacterizedyapidrogressionfuscleegeneratthatccursarlynife.llre-linkan ffectain`males --stimat1!3500oysorldwide.

          The qorMD,Hu8҄؇romosome,ncodaargetexdystrophin.Āfrequirins -cellsucturalupport;tthoughto)engn XanchoringlementsainncytosktosurfacembranWit,ec(sermeablsQextu 8ponBherf,creasap)uXuntil҉?l "expl"dies. subsmmu8psaddudamag >Aouxml-is80v@fu+furourderstnth nor ncz0_9paXlogydis@ Inrticي itiH`ke{rodu,?lvorAens8!los"ڞHmiž!mayeaevelop9e؛IkP`aPt6

          G83D &g17985yNervӞemEpqsy\xp@x1%pop2mak Нtqmneuric8(fyiktHy hRaf@fxolh兵varktyp(s8rityHЩmTis#wueseizHsul2abTfiEPM2A,ch8e 6 zYpYXll regor+ߔm8rupٝ(U,"o?STwork7:dmӷHsimib䜨]ynhaajenzym * s0plaUwi{نita>ʽ">M}madParrow錈Iasocir ,ortciicoHnuop㽰B"invoXc8Anl_"lsoribut*our thlrzturbpAB9cu;yT Wo@Ia8vultreatm{nd,iblre Japa鈷۱W

          GB9 > 17985yNervousystemEX؇ඈڷ"yollabshakȩahmHmptneu`ogڈPars,'!Y .owPpeoHӲwI"idiopa c ؇oDC,,numb34llUS0itselfon'}Jph8W<￙ojodhSRBqoftaedľ>PPnxEӈ熭Q(iжYominQimeaHbc8drenfnffectedndividualillave 50%hancelsoevelopingheisorder.n 1997,ETM1ene (call8FET1)asappthromosome 3@studyIcelacamilies,hilnor,22largemeric҃rCzechscent.hatwo:sorssi(trem:bee8oundndir0dnstratxtmutativariet҃mayea:.

          WҌmaiHays9XatmiarrugsuP0propr`lolxdimidoalternH surg available.urerXqolecu@틐anism(h easwai4covery2clon|

          GbYD3 > 17985T(NervousystemF MediЋeprwt (FMF)ccurXosHomHpeop non-Ashkenaziewish,rxianQabXTurkackgri.9ns 1200@(popP+witB?5ct8avcar@qhd6sxr0 zbyrep0s҂Qt(inflamm┭abdominmemb)img.A`ex="79"/'!.rarc dfiyQsY'cauthrheuqcK,׫O 16*aAtesalexclus@gulocy9--t(looellhmporX:muXp􃥏`likhnorsikep0—ntrؐdevx̃Rpou" ke,"KpYiull-wLoت@: ttq.0̧䎧»jowsr`xdiagn8PKt%.כ95cY@ ,鳰be ognPnvironq*igg jM{e (bб:ӊ߮sragXynd`oo?<cm9Lretard{ anutosoessivwcaubyutationfpllfrataxin,hichlocat؁xchrome 9.h^meansat)re manyxtraopi`DNAegment,trinucleotideAA.orYividuhas 8o 30lepXHsxP1x1eargernumbXȄ0#earli4onset㐇quick|decli\d4/>AlthoughenowKufou𓠔mitochondria)huP@dotJi`func.owever yimi8rotenasYFH1}mo bout.involvontrolgrHllSrespi8oSinceQʒ1so,tudymayelps erst5'nJ. 

          GcD > 17985NervoSystemGauc,%(nPc`"go-SHAY"):iniills}.Λ2lyI$a10ib8forenzyСTglucocHbrosiddyeedo wprticuYkX.neophwig"za@perXduء2,^nbrokenZЦJccumtIt

          GȂD[ > 17985TNervousystemLesch-Nypyndromb>BIn `,QAmutatiK`>HPRT1Sloch Xhos ducnor(3ypoxa-guءHphos ribosyltsferP,hispeedsp;frokdownߎًdihrtyp0ݞ`JåiulJa lowQŎgJP(X-8k0fash.ewh*Bcopy=Qnothbe hawoi{ (XXڃsrel؂”?RY)re ir)ed/M&RreaUi-amulsHci9`w bePY(.xc7ћpfulpњskP(gout)ڛ|kidn!hblad (ur8ts!seco$elf-.Eividuɐ;oyzC8f詫u1Finntrrd<8ˢXsQwh@y 2ȼa`h"Ѽмficiency1(cor8vitro@hrxɘxsea嚏BtumcellSutechniq( RaXmaqe@h e);ܟ(now,diP8decr4h٥#

          G :D; > 17985!NervoSystemMapsyrrmrSrUr| (MSUD):orIsoaֹfsig𹰄;Bhdminisc϶unlyqhb@bolismYcaoʾ`࿑Jaanchsych.®ganI ȬOnZݕ:ʶ8lhitt(alpha-ketor)Qgiɿ@ctsm.efttx8ǫgPsneurode@leadZaXCmonthlifeimgnex="83"/gcקԊs:aȿ leul(n iedie跘InyJbodHoiexqgy.Ͼxp؝rinvolv-@WdehydenBBCKDH)Xmx,hi0s alyفY0nwo8goryhzym!o,Pxslocipcle ;RHdir!0sivaryh@/_eenpmuPzLParo8PHsylvaniaJarЙPffliaЙQop 1176x" 9uaigar aE1sub- rhur4+lop񼀻CuXnt–ftX`a(0akgcᾑabuminimumhatseededorrowth.owever,tudiesavelreadyhownpossibleoransferubunitsfXeCKDHnzymenXcellssingetrovirus.imilardvancinenherapyayyduture(.

          Gsndisease > 17985TNervousystemMenksyndromb>޸@iINamuscl`ctmȱcp(olax.׎ walXbecwzwawaٳ"ntficcy,BscataiXOnseʘzra赗om跸ocsur)youAdhood yJnyɣsxme@vablQٺP///(70/ûQm_%f8ho19QdPIrote APۻskele9xliة8layXhgulatoryol>Anusuf`8( ʐmoXea sucr".ԂsamfXh y!۸rnamp@i1o 'AGC/CTGippht'Ȩ|Huna?Unadivid`betw527qi8Heo !elHt 50pXނn؈upʝkilobpxooooooooooooolNarcps/"leepƷdrowTdaytimaH@a3tYIth nap4;erefhed,Xio)be؅1iZrensP85sjpTinW)ȴxC]qudd౉:,dzHlapoxrigghdxmo@pox)hsaughPurpr, inǭor gincludhxrapidyIv(REM).ɬʑ ǓAxeam꒖ᒁo@|1remV!ߠPke,esultingnalf-sleepreamsndemporaryaralysis.

          Theeneticsfarcolepsysomplex,utshought@atewlyiscoveredroupQproteinsaye@volved. seareallhypocrh(alsonownrexp),heyignalessagesQrain.heЂBgivtoats,;induceakefulnp.ogYhave@mutation-WXceptorcrt2?.igggfY ʂ?

          GXDK > 17985 NervousymNafibromatoXwt74ype 2, (NF-2)aԽor( XrarizӺy, benumbo!udiyrȽctic+masHBQc01smw.img)@ex="8"/NF2&mapp9oso22R`ohso-cຈ'-(p’'.̲ 1su0(pRb)8orunȷcta "9vis, urӼKnot*oXollabl80y1؏.ut*لbiHipEou)[plini(mobs藇r0.P-0auplh)ٓѶiteQqu@ea0chil"!Z`p0!a 50%1`tݒAWlearxffʔtPX8fب8Twuworkmodelrg,P rxmice[exmǓſa;@@unknowle9'QERMcycykeleton-mem`HHk,Fur⮌i(wouHhelpHpfypfarge fut!rapiemannPickհǻ_>In 1914,en iatriciAlbert lscribagd辨*˱) a,1920'LuddwIr[issufaPBBʾ(d)aw&,8pf`!ps0Vr ȇϱϱϱ0ϱoda`ee`8iYar baXck:ԽQA˲xcuinfm,#B isessommon,hronic,on-neurologicalorm,hileype biochem!lyndenetdistinctfheease.ecently,majorocusesponsibpiemannPick(NP-C)alonedrommosome 18,foutoeimilarqproteinsatla enPHstehostasis.

          Usuىelluفl!importinlyss -- 'bagsenzy'щa 8c ingpf1chtrelid.Ä`akenSati(saveshow8zdefecti؇cH.hdoxuild-upQ0XdeHauJrrorNPC1kn-se@regi@ooso`*≰suggptraffic.

          GPD > 17985T0NervoXSy0mParkon 7,0rstscribbya1817,3grownponxࠑithore1n0lf lmer H(Xany im0Meopa@ov50earldׁ8pplxugj8ccuryg.əza de1r:8if ae,uscꦀffdhityKbalanc@@walg.acieatuᬨ)peY (lXbodixyLewy8ybrainimg8cindex="86"/ߦntilBߌAnotsita0Kar୩primarifHenvimriskactȝЧhinʗ౨Rtoxh.owe Pifay ЂX`gradғrce(ǂ9view+jonmt:adidate*ҴJcxBsЖ 4ut xRpslinksXioduzralpha-synucl8T[1ult:rag a|`tuAlzherVquǺS/)^lФXуذe@e`dˠ mecHismsptwtwoܼeWiaid e0,.ur꼘n:!alsY3cross-spcompqscabAs+mo9м)owz`nchQl@*/);S8 2馺smellʀ_rȡinvolaLcqyln-workelucYfunW*XhuH Qo+xGouudyqIZ3

          GxD]a> > 17985QNervousymPylketonuria_D'" (PKU)rɯ"errXpmeolʕaeXhcy-enzypiydroxse.̗xF|Ȼ=r,xgdam,0us0Qj0ZmrnKUqxqgnyM??<7?;Caut9)Porm lsN772xAH),0!/ 12.ɧ bodgg3Ȩqxnoᛀy(Pwcopi˅`(ӑAinɿ踸ftYcpT_Ydѽuipupoxhll O,ɅIwi˽a`otypXd1mJ0$hyperemia.¶AByetԉlocusdoRwʿ@PqiseterozygousorwoutationsfAH (ieachopytheeneasifferent),"milderillredominate.

          A1mKUbeenscov dnce,ndIs8odelrganismrelping to(tHnxstԂeas\fireatmPgainstt.it肸fulpetaryupervisP,hXorA caneadalivesmo0rsho8veproducQalthy.

          GxD > 17985T@N(SystemPra8-Wiyndromb>WWe (PWS)comm`initorAcharacizHby Qrd,ec(sPmusclonpshort tureabilityxabappet imlife-thyenAobes0. wfiscrib 1956Drs. ,abtˊbimg`cHex="73"/ WSIcauYabsenPxseg 11-13 YloHaprlyprdosq15.n 70-80%c@Ƞregaxmiss!du1IeloCert2sthܞ8s|mo, LdevelopboccuubxLJLJih;"t(arupȨ#p(otypsultėsaʼn0|XmpevAngelm`rTa--Tadepend 8`X)φbfarRllKcmprintКSmeiP+,umayvolxDNAlj_]{fo cVʖZc Xonuo8teN (SNRPN). B[bRcQng`medi`epIwtranpr] ظk3ahrgٜ;incluML'`re' (IC)BwOiaofaWS" molecuybiologniquaWU+őfߒߺRefsum߹߁ڹrQlipiȸbolthare:8(itym8 rؚH (prneurohy)0ail qcoin (ataxiaHinitiosa)g0vi%9skpga7racpiz{a`mhphyxacTplaH 0@.ol fplol''' 88'#1997ګZwidPifi mapQHo 10C5pduc*,AHXnzy(requira$isaZy -NjhyȋI:thoughoxz$,huqJcon)sTS2oiz[seHs,Tt(o;%eOuxodi(cؿsh:)xob 1tKopfoo(replo0t!Uefic GAben"altmRTT)T1altx8l8ffecfe8ٓ8q8ut 110,XrthmagYa|BPmca foardspgirlXvidualTp 运lulJ618ؖJHyPgioaurpeful heirands (peech.ffectedndividuallsohoweducmuscleone,ringzovements,utistic-likeehavioreizures.

          AenehichausesTT,0>MeCP2,senouonheo@armfhromosome (Xq28).ormally,eHPwo(((Qa.incedoot6additionalopyIXHfsetde,Hst؉nkdiseaYa.henhyq3@by?ωpossibexplana9satabseɈauncOJi>lelytufobirtRerchertaoȌcmoHdelue`wr,vthoughІ𗐎'!nIHXlyuina0vbrocesQere )romh&„ryelpartiiciy -ӕ/?ҖZ܊"sowsirwithsurvAqdlopz! 0zfa ܜמAbeliXdcx`tePontro8ؠsҝKAl|itt ar@manism,lImaya¥xrPertaPA8Q

          GyrDk > 17985ervystemSp0lulaphy'Deasoeuron\u0pn(;alyXrize MA (SMA)ahap hordҪcommXcildhood捱it8Yʠ @arifX!t聜8m (Q)xpir!ail,mثjuׂѩ5ividua0AxduclifҵIYunapwalksjIXٜooaCPleng~bhar ۚen ɽ8know0o crucsmRNptoDbodÄisȿ0high菖*f5t0bgstudQ Ctrans`micIrhopɴz6sλiRHntleaHo$mҮHconj05tI8aldyhelpѼl:h/ൗ.

          Gdĭ > 17985Nervousystem9ocXbel9xia\PEǁŬHfDa,*"A]cМ&umfis軸masPdbrabePkxemϖ:ornedithoordinationfovements,ohe "wastingway"!thisriticalntro@eresultsnossuscleoh.phyQAspinanryspcity.

          Tbasicefectzllypeqocerebellartaxia a expansaAGripletpeat.ɅH,simiitoragile-Xyndrome,unItPdiseaseXdyoYys,bpwhichhhiba'"73geneĊIOOKI,ꁙSCA1,ouHchos 6. iprote@du:-lled+n-1variP0sizdnHgz5>A脘lofum@~haseen micwh138steaftwo͐XhighlyE,8cept8h

          G88D3 > 17985qNervӖ(emTangi?́' (TD󣐙٥Polensportamecluisly(L,catof{co`9VirginiaDiridfiqfive-year-olha@anwho da!erig0oPlverywevelʓXtipoE(HDL) 'gooшN'𢰦)ngl8`sen1DcadmJ9ABC1 (ATP-bHsette)k9q31.qhelpsi87liǮ8ick uparblYcardIyqP8:be"Ct`ughouAodydividua8B8 unabHelh)fPouild|o@rg׹gecДimaa//tmaa8r s8{TnrelhiHetwqorona`lirUS.wrugreguhe d opu(wouHonH gd,plseo+moxcomm:s8ldeficiench#aushbirePrinra4(XtimOO԰ay-Sachs7FhrHYabolr@oci*AshkenaziewhȎ*b1foо=Frhan(ȳqS hnuebecKCajuhwouisa{ ǵ:worldPpsX eb?va`)infHRjuvenimexhixAalysidem blp pdeaPZnhadultseu(ysfuncZpsy`'''092'Wiut1)vWWbXle@(HEXA񺰵15 klphabunXenzyβ-hexosnidA$,Ό0j@:jow0`lecuaycg¹ py,gga@degradpp)1dM2 glid ɿbsxȾPYZreduc!mt(owˎaccume{igBpsd_ependsp`Ispe|QeeIKoon,hiu5Y% bodwtA0ش`dЧ귗ѫ-Sachs,lthoughtssefulnesssimitedinceay-ixpossAaxnorAernativathwaybreakingownM2anglioside.Ԁtmentfheatensetmwitheynsxinhibit`showsromis!effecthandr-sЂ@dividualinfantile (1mostommon)FdassxmelyOJ1neurologicalamagritoirXunkncdifficultyeverguchwillaktardydXlopЈzga׆.thoped,8w,at Pm'Ȍؑ8respP*o/Іj`binhDNAenzymccreenagracurr PleaRt`pntPC

          GQ"D > 179859NervousystemTuber!sclH2Зeditaryiordcacizby@gnumor-li@nodulDbra /retinapsXsipeizu0=A0pXoPҐexp eyew ʌamptoBveg2saityhʃs ۲hml"humV(Hil-Lhau)dp WV{in( m-abnllood@els.hxaeopVHLtt؃capatimc8ڶarPanm@heȡHbl.Ǜ*dXlopڿ@,rtj radlP+orr{odOOOJ6O̾ ȐX-[ \ (0)+OIQYqPmHntf(eѴ6I,ac50-50