268 related articles for article (PubMed ID: 29136549)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. Genetic and clinical spectrums in Korean Charcot-Marie-Tooth disease patients with myelin protein zero mutations.
Kim HJ; Nam SH; Kwon HM; Lim SO; Park JH; Kim HS; Kim SB; Lee KS; Lee JE; Choi BO; Chung KW
Mol Genet Genomic Med; 2021 Jun; 9(6):e1678. PubMed ID: 33825325
[TBL] [Abstract][Full Text] [Related]
7. Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
Bremer J; Meinhardt A; Katona I; Senderek J; Kämmerer-Gassler EK; Roos A; Ferbert A; Schröder JM; Nikolin S; Nolte K; Sellhaus B; Popzhelyazkova K; Tacke F; Schara-Schmidt U; Neuen-Jacob E; de Groote CC; de Jonghe P; Timmerman V; Baets J; Weis J
Brain Pathol; 2024 Jan; 34(1):e13200. PubMed ID: 37581289
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. Myelin protein zero gene dose dependent axonal ion-channel dysfunction in a family with Charcot-Marie-Tooth disease.
Moldovan M; Pisciotta C; Pareyson D; Krarup C
Clin Neurophysiol; 2020 Oct; 131(10):2440-2451. PubMed ID: 32829291
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation.
Lee YC; Soong BW; Liu YT; Lin KP; Kao KP; Wu ZA
J Neurol; 2005 Feb; 252(2):151-5. PubMed ID: 15729519
[TBL] [Abstract][Full Text] [Related]
16. A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.
Luigetti M; Modoni A; Renna R; Silvestri G; Ricci E; Montano N; Tasca G; Papacci M; Monforte M; Conte A; Pomponi MG; Sabatelli M
Clin Neurol Neurosurg; 2010 Nov; 112(9):794-7. PubMed ID: 20537790
[TBL] [Abstract][Full Text] [Related]
17. Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs.
Zanette G; Fabrizi GM; Taioli F; Lauriola MF; Badari A; Ferrarini M; Cavallaro T; Tamburin S
Clin Neurophysiol; 2018 Nov; 129(11):2259-2267. PubMed ID: 30216910
[TBL] [Abstract][Full Text] [Related]
18. Novel MPZ mutations and congenital hypomyelinating neuropathy.
McMillan HJ; Santagata S; Shapiro F; Batish SD; Couchon L; Donnelly S; Kang PB
Neuromuscul Disord; 2010 Nov; 20(11):725-9. PubMed ID: 20621479
[TBL] [Abstract][Full Text] [Related]
19. Immune-mediated inflammatory polyneuropathy overlapping Charcot-Marie-Tooth 1B.
Escorcio-Bezerra ML; Pinto WBVR; Bichuetti DB; Souza PVS; Nunes RM; Silva LHL; Lima KDF; Manzano GM; Oliveira ASB; Baeta AM
J Clin Neurosci; 2020 May; 75():228-231. PubMed ID: 32201027
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
