145 related articles for article (PubMed ID: 15716547)
1. Genotype-phenotype correlation in a family with late onset CMT and an MPZ lys236del mutation.
Sowden JE; Logigian EL; Malik K; Herrmann DN
J Neurol Neurosurg Psychiatry; 2005 Mar; 76(3):442-4. PubMed ID: 15716547
[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. 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]
4. 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]
5. 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]
6. Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
Miltenberger-Miltenyi G; Janecke AR; Wanschitz JV; Timmerman V; Windpassinger C; Auer-Grumbach M; Löscher WN
Arch Neurol; 2007 Jul; 64(7):966-70. PubMed ID: 17620486
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.
Santoro L; Manganelli F; Di Maria E; Bordo D; Cassandrini D; Ajmar F; Mandich P; Bellone E
J Neurol Neurosurg Psychiatry; 2004 Feb; 75(2):262-5. PubMed ID: 14742601
[TBL] [Abstract][Full Text] [Related]
12. Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
Numakura C; Lin C; Ikegami T; Guldberg P; Hayasaka K
Hum Mutat; 2002 Nov; 20(5):392-8. PubMed ID: 12402337
[TBL] [Abstract][Full Text] [Related]
13. Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing.
Seeman P; Mazanec R; Ctvrtecková M; Smilková D
Int J Mol Med; 2001 Oct; 8(4):461-8. PubMed ID: 11562788
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
Choi BO; Lee MS; Shin SH; Hwang JH; Choi KG; Kim WK; Sunwoo IN; Kim NK; Chung KW
Hum Mutat; 2004 Aug; 24(2):185-6. PubMed ID: 15241803
[TBL] [Abstract][Full Text] [Related]
20. Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease.
Maeda MH; Mitsui J; Soong BW; Takahashi Y; Ishiura H; Hayashi S; Shirota Y; Ichikawa Y; Matsumoto H; Arai M; Okamoto T; Miyama S; Shimizu J; Inazawa J; Goto J; Tsuji S
Ann Neurol; 2012 Jan; 71(1):84-92. PubMed ID: 22275255
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
