214 related articles for article (PubMed ID: 12940837)
1. Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.
Kochański A; Drac H; Jedrzejowska H; Hausmanowa-Petrusewicz I
Eur J Neurol; 2003 Sep; 10(5):547-9. PubMed ID: 12940837
[TBL] [Abstract][Full Text] [Related]
2. A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.
Kochanski A; Drac H; Kabzińska D; Hausmanowa-Petrusewicz I
Neuromuscul Disord; 2004 Mar; 14(3):229-32. PubMed ID: 15036333
[TBL] [Abstract][Full Text] [Related]
3. A novel MPZ mutation in Charcot-Marie-Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies.
Iida M; Koike H; Ando T; Sugiura M; Yamamoto M; Tanaka F; Sobue G
Neuromuscul Disord; 2012 Feb; 22(2):166-9. PubMed ID: 21940171
[TBL] [Abstract][Full Text] [Related]
4. Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero.
Fabrizi GM; Taioli F; Cavallaro T; Rigatelli F; Simonati A; Mariani G; Perrone P; Rizzuto N
Acta Neuropathol; 2000 Sep; 100(3):299-304. PubMed ID: 10965800
[TBL] [Abstract][Full Text] [Related]
5. Charcot-Marie-Tooth 1B caused by expansion of a familial myelin protein zero (MPZ) gene duplication.
Speevak MD; Farrell SA
Eur J Med Genet; 2013 Oct; 56(10):566-9. PubMed ID: 23811036
[TBL] [Abstract][Full Text] [Related]
6. Genetic epidemiology of Charcot-Marie-Tooth disease.
Braathen GJ
Acta Neurol Scand Suppl; 2012; (193):iv-22. PubMed ID: 23106488
[TBL] [Abstract][Full Text] [Related]
7. Dysmyelinating and demyelinating Charcot-Marie-Tooth disease associated with two myelin protein zero gene mutations.
Drac H; Kabzińska D; Moszyńska I; Strugalska-Cynowska H; Hausmanowa-Petrusewicz I; Kochański A
J Appl Genet; 2011 May; 52(2):177-83. PubMed ID: 21107784
[TBL] [Abstract][Full Text] [Related]
8. Pathology of a mouse mutation in peripheral myelin protein P0 is characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder.
Rünker AE; Kobsar I; Fink T; Loers G; Tilling T; Putthoff P; Wessig C; Martini R; Schachner M
J Cell Biol; 2004 May; 165(4):565-73. PubMed ID: 15148307
[TBL] [Abstract][Full Text] [Related]
9. Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients.
Su Y; Brooks DG; Li L; Lepercq J; Trofatter JA; Ravetch JV; Lebo RV
Proc Natl Acad Sci U S A; 1993 Nov; 90(22):10856-60. PubMed ID: 7504284
[TBL] [Abstract][Full Text] [Related]
10. Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
Sanmaneechai O; Feely S; Scherer SS; Herrmann DN; Burns J; Muntoni F; Li J; Siskind CE; Day JW; Laura M; Sumner CJ; Lloyd TE; Ramchandren S; Shy RR; Grider T; Bacon C; Finkel RS; Yum SW; Moroni I; Piscosquito G; Pareyson D; Reilly MM; Shy ME;
Brain; 2015 Nov; 138(Pt 11):3180-92. PubMed ID: 26310628
[TBL] [Abstract][Full Text] [Related]
11. Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.
Leal A; Berghoff C; Berghoff M; Del Valle G; Contreras C; Montoya O; Hernández E; Barrantes R; Schlötzer-Schrehardt U; Neundörfer B; Reis A; Rautenstrauss B; Heuss D
Neurogenetics; 2003 Aug; 4(4):191-7. PubMed ID: 12845552
[TBL] [Abstract][Full Text] [Related]
12. Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.
Roa BB; Warner LE; Garcia CA; Russo D; Lovelace R; Chance PF; Lupski JR
Hum Mutat; 1996; 7(1):36-45. PubMed ID: 8664899
[TBL] [Abstract][Full Text] [Related]
13. Peripheral myelin modification in CMT1B correlates with MPZ gene mutations.
Lagueny A; Latour P; Vital A; Rajabally Y; Le Masson G; Ferrer X; Bernard I; Julien J; Vital C; Vandenberghe A
Neuromuscul Disord; 1999 Oct; 9(6-7):361-7. PubMed ID: 10545037
[TBL] [Abstract][Full Text] [Related]
14. Mutations in the Myelin Protein Zero result in a spectrum of Charcot-Marie-Tooth phenotypes.
Kochański A
Acta Myol; 2004 May; 23(1):6-9. PubMed ID: 15298082
[TBL] [Abstract][Full Text] [Related]
15. Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation.
Eggers SD; Keswani SC; Melli G; Cornblath DR
Muscle Nerve; 2004 Jun; 29(6):867-9. PubMed ID: 15170620
[TBL] [Abstract][Full Text] [Related]
16. Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B.
Sabet A; Li J; Ghandour K; Pu Q; Wu X; Kamholz J; Shy ME; Cambi F
Neurology; 2006 Oct; 67(7):1141-6. PubMed ID: 17030746
[TBL] [Abstract][Full Text] [Related]
17. A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B.
Fabrizi GM; Ferrarini M; Cavallaro T; Jarre L; Polo A; Rizzuto N
Neurology; 2001 Jul; 57(1):101-5. PubMed ID: 11445635
[TBL] [Abstract][Full Text] [Related]
18. Expression of peripheral myelin protein zero in sural nerve of patients with Charcot-Marie-Tooth disease 1B.
Tachi N; Kozuka N; Ohya K; Chiba S; Sasaki K; Uyemura K
Pediatr Neurol; 2001 Jan; 24(1):33-5. PubMed ID: 11182278
[TBL] [Abstract][Full Text] [Related]
19. Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met.
Senderek J; Hermanns B; Lehmann U; Bergmann C; Marx G; Kabus C; Timmerman V; Stoltenburg-Didinger G; Schröder JM
Brain Pathol; 2000 Apr; 10(2):235-48. PubMed ID: 10764043
[TBL] [Abstract][Full Text] [Related]
20. Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.
Kochański A; Kabzińska D; Drac H; Ryniewicz B; Rowińska-Marcińska K; Hausmanowa-Petrusewicz I
Eur J Paediatr Neurol; 2004; 8(4):221-4. PubMed ID: 15261887
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]