参考文献/References:
[1]GargN,ParkSB,VucicS,etal.Differentiatinglowermotorneuronsyndromes[J].JNeurolNeurosurgPsychiatry,2017,88(6):474-483.
[2]VerschuerenA.Motorneuropathiesandlowermotorneuronsyndromes[J].RevNeurol(Paris),2017,173(5):320-325.
[3]BansagiB,GriffinH,WhittakerRG,etal.Geneticheterogeneityofmotorneuropathies[J].Neurology,2017,88(13):1226-1234.
[4]RossorAM,KalmarB,GreensmithL,etal.Thedistalhereditarymotorneuropathies[J].JNeurolNeurosurgPsychiatry,2012,83(1):6-14.
[5]DierickI,BaetsJ,IrobiJ,etal.Relativecontributionofmutationsingenesforautosomaldominantdistalhereditarymotorneuropathies:agenotype-phenotypecorrelationstudy[J].Brain,2008,131(5):1217-1227.
[6]PriorTW,NaganN.Spinalmuscularatrophy:overviewofmoleculardiagnosticapproaches[J].CurrProtocHumGenet,2016,88:Unit9.27.
[7]PeetersK,ChamovaT,JordanovaA.ClinicalandgeneticdiversityofSMN1-negativeproximalspinalmuscularatrophies[J].Brain,2014,137(11):2879-2896.
[8]Penttil?,JokelaM,BouquinH,etal.LateonsetspinalmotorneuronopathyiscausedbymutationinCHCHD10[J].AnnNeurol,2015,77(1):163-172.
[9]MariottiC,CastellottiB,PareysonD,etal.PhenotypicmanifestationsassociatedwithCAG-repeatexpansionintheandrogenreceptorgeneinmalepatientsandheterozygousfemales:aclinicalandmolecularstudyof30families[J].NeuromusculDisord,2000,10(6):391-397.
[10]QuerinG,BertolinC,DaReE,etal.Non-neuralphenotypeofspinalandbulbarmuscularatrophy:resultsfromalargecohortofItalianpatients[J].JNeurolNeurosurgPsychiatry,2016,87(8):810-816.
[11]LombardiV,QuerinG,ZiffOJ,etal.Muscleandnotneuronalbiomarkerscorrelatewithseverityinspinalandbulbarmuscularatrophy[J].Neurology,2019,92(11):e1205-e1211.
[12]KieseierBC,MatheyEK,SommerC,etal.Immune-mediatedneuropathies[J].NatRevDisPrimers,2018,4(1):31.
[13]VlamL,VanDerPolWL,CatsEA,etal.Multifocalmotorneuropathy:diagnosis,pathogenesisandtreatmentstrategies[J].NatRevNeurol,2012,8(1):48-58.
[14]AttarianS,AzulayJP,VerschuerenA,etal.Magneticstimulationusingatriple-stimulationtechniqueinpatientswithmultifocalneuropathywithoutconductionblock[J].MuscleNerve,2005,32(6):710-714.
[15]DeroideN,UzenotD,VerschuerenA,etal.Triple-stimulationtechniqueinmultifocalneuropathywithconductionblock[J].MuscleNerve,2007,35(5):632-636.
[16]SimonNG,AyerG,Lomen-HoerthC.IsIVIgtherapywarrantedinprogressivelowermotorneuronsyndromeswithoutconductionblock?[J].Neurology,2013,81(24):2116-2120.
[17]LoewenbrueckKF,LiesenbergJ,DittrichMA,etal.Nerveultrasoundinthedifferentiationofmultifocalmotorneuropathy(MMN)andamyotrophiclateralsclerosiswithpredominantlowermotorneurondisease(ALS/LMND)[J].JNeurol,2016,263(1):35-44.
[18]KronlageM,KnopKC,SchwarzD,etal.Amyotrophiclateralsclerosisversusmultifocalmotorneuropathy:utilityofMrneurography[J].Radiology,2019,292(1):149-156.
[19]KimWK,LiuX,SandnerJ,etal.Studyof962patientsindicatesprogressivemuscularatrophyisaformofALS[J].Neurology,2009,73(20):1686-1692.
[20]VucicS,RutkoveSB.Neurophysiologicalbiomarkersinamyotrophiclateralsclerosis[J].CurrOpinNeurol,2018,31(5):640-647.
[21]MenonP,GeevasingaN,YiannikasC,etal.Sensitivityandspecificityofthresholdtrackingtranscranialmagneticstimulationfordiagnosisofamyotrophiclateralsclerosis:aprospectivestudy[J].LancetNeurol,2015,14(5):478-484.
[22]WijesekeraLC,MathersS,TalmanP,etal.NaturalhistoryandclinicalfeaturesoftheflailarmandflaillegALSvariants[J].Neurology,2009,72(12):1087-1094.
[23]MenonP,GeevasingaN,YiannikasC,etal.Corticalcontributionstotheflaillegsyndrome:Pathophysiologicalinsights[J].AmyotrophLateralSclerFrontotemporalDegener,2016,17(5/6):389-396.
[24]HirayamaK,TomonagaM,KitanoK,etal.Focalcervicalpoliopathycausingjuvenilemuscularatrophyofdistalupperextremity:apathologicalstudy[J].JNeurolNeurosurgPsychiatry,1987,50(3):285-290.
[25]SinghRJ,Preethish-KumarV,PolavarapuK,etal.Reversesplithandsyndrome:DissociatedintrinsichandmuscleatrophypatterninHirayamadisease/brachialmonomelicamyotrophy[J].AmyotrophLateralSclerFrontotemporalDegener,2017,18(1/2):10-16.
[26]RavalM,KumariR,DungAA,etal.MRIfindingsinHirayamadisease[J].IndianJRadiolImaging,2010,20(4):245-249.
[27]DiMuzioA,DelliPizziC,LugaresiA,etal.Benignmonomelicamyotrophyoflowerlimb:arareentitywithacharacteristicmuscularCT[J].JNeurolSci,1994,126(2):153-161.
[28]HamanoT,MutohT,HirayamaM,etal.MRIfindingsofbenignmonomelicamyotrophyoflowerlimb[J].JNeurolSci,1999,165(2):184-187.
[29]HowardRS.Poliomyelitisandthepostpoliosyndrome[J].BMJ,2005,330(7503):1314-1318.
[30]GonzalezH,OlssonT,BorgK.Managementofpostpoliosyndrome[J].LancetNeurol,2010,9(6):634-642.
[31]ThomsonRM,GjP.NeuropathiesassociatedwithexcessiveexposuretoLead[J].MuscleNerve,2006,33(6):732-741.
[32]AlbersJW,FinkJK.Porphyricneuropathy[J].MuscleNerve,2004,30(4):410-422.