607 related articles for article (PubMed ID: 14711881)
1. Phenotypic clustering in MPZ mutations.
Shy ME; Jáni A; Krajewski K; Grandis M; Lewis RA; Li J; Shy RR; Balsamo J; Lilien J; Garbern JY; Kamholz J
Brain; 2004 Feb; 127(Pt 2):371-84. PubMed ID: 14711881
[TBL] [Abstract][Full Text] [Related]
2. Marked phenotypic variation in a family with a new myelin protein zero mutation.
Szabo A; Züchner S; Siska E; Mechler F; Molnar MJ
Neuromuscul Disord; 2005 Nov; 15(11):760-3. PubMed ID: 16198109
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. [Molecular genetics of inherited neuropathies].
Takashima H
Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
[TBL] [Abstract][Full Text] [Related]
5. Severe demyelinating hypertrophic polyneuropathy caused by a de novo frameshift mutation within the intracellular domain of myelin protein zero (MPZ/P0).
Zschüntzsch J; Dibaj P; Pilgram S; Kötting J; Gerding WM; Neusch C
J Neurol Sci; 2009 Jun; 281(1-2):113-5. PubMed ID: 19344920
[TBL] [Abstract][Full Text] [Related]
6. New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype.
Floroskufi P; Panas M; Karadima G; Vassilopoulos D
Muscle Nerve; 2007 May; 35(5):667-9. PubMed ID: 17143884
[TBL] [Abstract][Full Text] [Related]
7. Peripheral neuropathies caused by mutations in the myelin protein zero.
Shy ME
J Neurol Sci; 2006 Mar; 242(1-2):55-66. PubMed ID: 16414078
[TBL] [Abstract][Full Text] [Related]
8. Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration.
Li J; Bai Y; Ianakova E; Grandis M; Uchwat F; Trostinskaia A; Krajewski KM; Garbern J; Kupsky WJ; Shy ME
J Comp Neurol; 2006 Sep; 498(2):252-65. PubMed ID: 16856127
[TBL] [Abstract][Full Text] [Related]
9. Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene.
Brozková D; Mazanec R; Haberlová J; Sakmaryová I; Seeman P
Clin Genet; 2010 Jul; 78(1):81-7. PubMed ID: 20456450
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression.
Magot A; Latour P; Mussini JM; Mourtada R; Guiheneuc P; Pereon Y
Muscle Nerve; 2008 Aug; 38(2):1055-9. PubMed ID: 18663734
[TBL] [Abstract][Full Text] [Related]
12. Charcot-Marie-Tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene.
Banchs I; Casasnovas C; Montero J; Volpini V; Martínez-Matos JA
Muscle Nerve; 2010 Aug; 42(2):184-8. PubMed ID: 20544920
[TBL] [Abstract][Full Text] [Related]
13. Altered trafficking and adhesion function of MPZ mutations and phenotypes of Charcot-Marie-Tooth disease 1B.
Matsuyama W; Nakagawa M; Takashima H; Osame M
Acta Neuropathol; 2002 May; 103(5):501-8. PubMed ID: 11935267
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
Ikegami T; Nicholson G; Ikeda H; Ishida A; Johnston H; Wise G; Ouvrier R; Hayasaka K
Biochem Biophys Res Commun; 1996 May; 222(1):107-10. PubMed ID: 8630052
[TBL] [Abstract][Full Text] [Related]
18. Molecular basis of hereditary neuropathies.
Chance PF
Phys Med Rehabil Clin N Am; 2001 May; 12(2):277-91. PubMed ID: 11345007
[TBL] [Abstract][Full Text] [Related]
19. Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
Mersiyanova IV; Ismailov SM; Polyakov AV; Dadali EL; Fedotov VP; Nelis E; Löfgren A; Timmerman V; van Broeckhoven C; Evgrafov OV
Hum Mutat; 2000; 15(4):340-7. PubMed ID: 10737979
[TBL] [Abstract][Full Text] [Related]
20. Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.
Warner LE; Shohat M; Shorer Z; Lupski JR
Hum Mutat; 1997; 10(1):21-4. PubMed ID: 9222756
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
