Small heat shock protein B3 (HSPB3 ) mutation in an axonal Charcot-Marie-Tooth disease family

2018 ◽  
Vol 23 (1) ◽  
pp. 60-66 ◽  
Author(s):  
Da E. Nam ◽  
Soo H. Nam ◽  
Ah J. Lee ◽  
Young B. Hong ◽  
Byung-Ok Choi ◽  
...  
Keyword(s):  
Heat Shock ◽  
Heat Shock Protein ◽  
Small Heat Shock Protein ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Disease Family ◽  
Tooth Disease

A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot–Marie–Tooth disease type 2L

2013 ◽  
Vol 23 (8) ◽  
pp. 656-663 ◽  
Author(s):  
Khriezhanuo Nakhro ◽  
Jin-Mo Park ◽  
Ye Jin Kim ◽  
Bo Ram Yoon ◽  
Jeong Hyun Yoo ◽  
...  
Keyword(s):  
Heat Shock ◽  
Heat Shock Protein ◽  
Small Heat Shock Protein ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Heat Shock Protein 22 ◽  
Tooth Disease

scholarly journals Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

2004 ◽  
Vol 36 (6) ◽  
pp. 602-606 ◽  
Author(s):  
Oleg V Evgrafov ◽  
Irena Mersiyanova ◽  
Joy Irobi ◽  
Ludo Van Den Bosch ◽  
Ines Dierick ◽  
...  
Keyword(s):  
Heat Shock ◽  
Heat Shock Protein ◽  
Small Heat Shock Protein ◽  
Heat Shock Protein 27 ◽  
Motor Neuropathy ◽  
Charcot Marie Tooth ◽  
Hereditary Motor ◽  
Charcot Marie Tooth Disease ◽  
Hereditary Motor Neuropathy ◽  
Tooth Disease

Heat shock protein b3 ( HSPB3 ) as an underlying cause of late-onset axonal Charcot-Marie-Tooth disease

2017 ◽  
Vol 381 ◽  
pp. 380-381
Author(s):  
D.E. Nam ◽  
S.K. Kim ◽  
S.J. Kang ◽  
J.Y. Lee ◽  
B.O. Choi ◽  
...  
Keyword(s):  
Heat Shock ◽  
Heat Shock Protein ◽  
Late Onset ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot–Marie–Tooth disease family

Neurogenetics ◽  
2005 ◽  
Vol 6 (3) ◽  
pp. 159-163 ◽  
Author(s):  
K. W. Chung ◽  
I. N. Sunwoo ◽  
S. M. Kim ◽  
K. D. Park ◽  
W.-K. Kim ◽  
...  
Keyword(s):  
Missense Mutations ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Disease Family ◽  
Tooth Disease

scholarly journals Small Heat-Shock Protein HSPB1 Mutants Stabilize Microtubules in Charcot-Marie-Tooth Neuropathy

2011 ◽  
Vol 31 (43) ◽  
pp. 15320-15328 ◽  
Author(s):  
L. Almeida-Souza ◽  
B. Asselbergh ◽  
C. d'Ydewalle ◽  
K. Moonens ◽  
S. Goethals ◽  
...  
Keyword(s):  
Heat Shock ◽  
Heat Shock Protein ◽  
Small Heat Shock Protein ◽  
Charcot Marie Tooth
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