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- [41] Absence of PMP22 coding region mutations in CMT1A duplication patients: Further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1AHUMAN MUTATION, 1996, 8 (04) : 362 - 365Warner, LERoa, BBLupski, JR
- [42] Polytherapy with a combination of three repurposed drugs (PXT3003) down-regulates Pmp22 over-expression and improves myelination, axonal and functional parameters in models of CMT1A neuropathyOrphanet Journal of Rare Diseases, 9Ilya ChumakovAude MiletNathalie CholetGwenaël PrimasAurélie BoucardYannick PereiraEsther GraudensJonas MandelJulien LaffaireJulie FoucquierFabrice GlibertViviane BertrandKlaus-Armin NaveMichael W SeredaEmmanuel VialMickaël GuedjRodolphe HajjSerguei NabirotchkinDaniel Cohen
- [43] Overlap Phenotype between CMT1A and Hereditary Neuropathy with Liability to Pressure Palsies Caused by the Novel Small In-frame Deletion c.407_418del12 in PMP22 GeneNEUROPEDIATRICS, 2015, 46 (01) : 44 - 48Vill, KatharinaKuhn, MariusGlaeser, DieterMueller-Felber, Wolfgang
- [44] Analysis of the 5′ upstream regulatory sequence of the PMP22 gene in a group of Charcot-Manie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) affected patientsPHARMACOLOGICAL REPORTS, 2009, 61 (06) : 1250 - 1250Sinkiewicz-Darol, ElenaKabzinska, DagmaraKochanski, Andrzej
- [45] Polytherapy with a combination of three repurposed drugs (PXT3003) down-regulates Pmp22 over-expression and improves myelination, axonal and functional parameters in models of CMT1A neuropathyORPHANET JOURNAL OF RARE DISEASES, 2014, 9Chumakov, IlyaMilet, AudeCholet, NathaliePrimas, Gwena L.Boucard, AurliePereira, YannickGraudens, EstherMandel, JonasLaffaire, JulienFoucquier, JulieGlibert, FabriceBertrand, VivianeNave, Klaus-ArminSereda, Michael W.Vial, EmmanuelGuedj, MickalHajj, RodolpheNabirotchkin, SergueiCohen, Daniel
- [46] Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal modelsNEUROGENETICS, 2009, 10 (04) : 275 - 287Leal, AlejandroHuehne, KathrinBauer, FinnSticht, HeinrichBerger, PhilippSuter, UeliMorera, BernalDel Valle, GerardoLupski, James R.Ekici, ArifPasutto, FrancescaEndele, SabineBarrantes, RamiroBerghoff, CorinnaBerghoff, MartinNeundoerfer, BernhardHeuss, DieterDorn, ThomasYoung, PeterSantolin, LisaUhlmann, ThomasMeisterernst, MichaelSereda, Michaelzu Horste, Gerd MeyerNave, Klaus-ArminReis, AndreRautenstrauss, Bernd
- [47] Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal modelsneurogenetics, 2009, 10 (4) : 375 - 376Alejandro LealKathrin HuehneFinn BauerHeinrich StichtPhilipp BergerUeli SuterBernal MoreraGerardo Del ValleJames R. LupskiArif EkiciFrancesca PasuttoSabine EndeleRamiro BarrantesCorinna BerghoffMartin BerghoffBernhard NeundörferDieter HeussThomas DornPeter YoungLisa SantolinThomas UhlmannMichael MeisterernstMichael Werner SeredaRuth Martha StassartGerd Meyer zu HorsteKlaus-Armin NaveAndré ReisBernd Rautenstrauss
- [48] Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal modelsneurogenetics, 2009, 10 : 275 - 287Alejandro LealKathrin HuehneFinn BauerHeinrich StichtPhilipp BergerUeli SuterBernal MoreraGerardo Del ValleJames R. LupskiArif EkiciFrancesca PasuttoSabine EndeleRamiro BarrantesCorinna BerghoffMartin BerghoffBernhard NeundörferDieter HeussThomas DornPeter YoungLisa SantolinThomas UhlmannMichael MeisterernstMichael SeredaGerd Meyer zu HorsteKlaus-Armin NaveAndré ReisBernd Rautenstrauss