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5. Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. Fabrizi GM; Taioli F; Cavallaro T; Ferrari S; Bertolasi L; Casarotto M; Rizzuto N; Deconinck T; Timmerman V; De Jonghe P Neurology; 2009 Mar; 72(13):1160-4. PubMed ID: 19332693 [TBL] [Abstract][Full Text] [Related]
6. A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient. Nishadham V; Santhoshkumar R; Nashi S; Vengalil S; Bardhan M; Polavarapu K; Sanka SB; Anjanappa RM; Kulanthaivelu K; Saini J; Chickabasaviah YT; Nalini A J Neuromuscul Dis; 2024; 11(1):221-232. PubMed ID: 38108359 [TBL] [Abstract][Full Text] [Related]
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8. A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H. Houlden H; Hammans S; Katifi H; Reilly MM Neurology; 2009 Feb; 72(7):617-20. PubMed ID: 19221294 [TBL] [Abstract][Full Text] [Related]
9. Sustained Expression of Negative Regulators of Myelination Protects Schwann Cells from Dysmyelination in a Charcot-Marie-Tooth 1B Mouse Model. Florio F; Ferri C; Scapin C; Feltri ML; Wrabetz L; D'Antonio M J Neurosci; 2018 May; 38(18):4275-4287. PubMed ID: 29610440 [TBL] [Abstract][Full Text] [Related]
12. Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination. Hu B; McCollum M; Ravi V; Arpag S; Moiseev D; Castoro R; Mobley B; Burnette B; Siskind C; Day J; Yawn R; Feely S; Li Y; Yan Q; Shy M; Li J Ann Neurol; 2018 Apr; 83(4):756-770. PubMed ID: 29518270 [TBL] [Abstract][Full Text] [Related]
13. Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A. Perea J; Robertson A; Tolmachova T; Muddle J; King RH; Ponsford S; Thomas PK; Huxley C Hum Mol Genet; 2001 May; 10(10):1007-18. PubMed ID: 11331611 [TBL] [Abstract][Full Text] [Related]
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20. A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease. Kessali M; Zemmouri R; Guilbot A; Maisonobe T; Brice A; LeGuern E; Grid D Neurology; 1997 Apr; 48(4):867-73. PubMed ID: 9109869 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]