179 related articles for article (PubMed ID: 25388615)
1. Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation.
Prada V; Capponi S; Ursino G; Alberti A; Callegari I; Passalacqua M; Marotta R; Mandich P; Bellone E; Schenone A; Grandis M
Neuropathology; 2015 Jun; 35(3):254-9. PubMed ID: 25388615
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Mild phenotype of Charcot-Marie-Tooth disease type 4B1.
Murakami T; Kutoku Y; Nishimura H; Hayashi M; Abe A; Hayasaka K; Sunada Y
J Neurol Sci; 2013 Nov; 334(1-2):176-9. PubMed ID: 23962696
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Novel C59T leader peptide mutation in the MPZ gene associated with late-onset, axonal, sensorimotor polyneuropathy.
Finsterer J; Miltenberger G; Rauschka H; Janecke A
Eur J Neurol; 2006 Oct; 13(10):1149-52. PubMed ID: 16987171
[TBL] [Abstract][Full Text] [Related]
7. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
Hattori N; Yamamoto M; Yoshihara T; Koike H; Nakagawa M; Yoshikawa H; Ohnishi A; Hayasaka K; Onodera O; Baba M; Yasuda H; Saito T; Nakashima K; Kira J; Kaji R; Oka N; Sobue G;
Brain; 2003 Jan; 126(Pt 1):134-51. PubMed ID: 12477701
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. [Molecular genetics of inherited neuropathies].
Takashima H
Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
[TBL] [Abstract][Full Text] [Related]
10. Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy.
Briani C; Adami F; Cavallaro T; Taioli F; Ferrari S; Fabrizi G
Muscle Nerve; 2008 Jul; 38(1):921-3. PubMed ID: 18563718
[TBL] [Abstract][Full Text] [Related]
11. Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1.
Lee YC; Soong BW; Lin KP; Lee HY; Wu ZA; Kao KP
J Neurol Sci; 2004 Apr; 219(1-2):95-100. PubMed ID: 15050444
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Charcot-Marie-Tooth disease and related peripheral neuropathies: novel mutations in the peripheral myelin genes connexin 32 (Cx32), peripheral myelin protein 22 (PMP22), and peripheral myelin protein zero (MPZ).
Ekici AB; Schweitzer D; Park O; Lorek D; Rautenstrauss B; Krüger G; Friedl W; Uhlhaas S; Bathke K; Heuss D; Kayser C; Grehl H
Neurogenetics; 2000 Sep; 3(1):49-50. PubMed ID: 11085599
[No Abstract] [Full Text] [Related]
15. The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study.
Fabrizi GM; Tamburin S; Cavallaro T; Cabrini I; Ferrarini M; Taioli F; Magrinelli F; Zanette G
Clin Neurophysiol; 2018 Jan; 129(1):21-32. PubMed ID: 29136549
[TBL] [Abstract][Full Text] [Related]
16. Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.
Laurà M; Milani M; Morbin M; Moggio M; Ripolone M; Jann S; Scaioli V; Taroni F; Pareyson D
J Neurol Neurosurg Psychiatry; 2007 Nov; 78(11):1263-6. PubMed ID: 17940173
[TBL] [Abstract][Full Text] [Related]
17. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.
De Jonghe P; Timmerman V; Ceuterick C; Nelis E; De Vriendt E; Löfgren A; Vercruyssen A; Verellen C; Van Maldergem L; Martin JJ; Van Broeckhoven C
Brain; 1999 Feb; 122 ( Pt 2)():281-90. PubMed ID: 10071056
[TBL] [Abstract][Full Text] [Related]
18. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene.
Chapon F; Latour P; Diraison P; Schaeffer S; Vandenberghe A
J Neurol Neurosurg Psychiatry; 1999 Jun; 66(6):779-82. PubMed ID: 10329755
[TBL] [Abstract][Full Text] [Related]
19. Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation.
Bienfait HM; Faber CG; Baas F; Gabreëls-Festen AA; Koelman JH; Hoogendijk JE; Verschuuren JJ; Wokke JH; de Visser M
J Neurol Neurosurg Psychiatry; 2006 Apr; 77(4):534-7. PubMed ID: 16543539
[TBL] [Abstract][Full Text] [Related]
20. De novo mutation (Arg98-->Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B.
Komiyama A; Ohnishi A; Izawa K; Yamamori S; Ohashi H; Hasegawa O
J Neurol Sci; 1997 Jul; 149(1):103-9. PubMed ID: 9168174
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
