Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerves from patients with Charcot-Marie-Tooth disease type 1A

1996 ◽  
Vol 92 (5) ◽  
pp. 454-460 ◽  
Author(s):  
Tomoya Nishimura ◽  
H. Yoshikawa ◽  
Harutoshi Fujimura ◽  
Saburo Sakoda ◽  
Takehiko Yanagihara
Keyword(s):  
Schwann Cells ◽  
Disease Type ◽  
Myelin Protein ◽  
Peripheral Myelin Protein 22 ◽  
Peripheral Myelin Protein ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Onion Bulbs ◽  
Tooth Disease

A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A

Neurology ◽  
1997 ◽  
Vol 48 (2) ◽  
pp. 489-493 ◽  
Author(s):  
M. G. Marrosu ◽  
S. Vaccargiu ◽  
G. Marrosu ◽  
A. Vannelli ◽  
C. Cianchetti ◽  
...  
Keyword(s):  
Point Mutation ◽  
Disease Type ◽  
Myelin Protein ◽  
Pmp22 Gene ◽  
Peripheral Myelin Protein 22 ◽  
Peripheral Myelin Protein ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Peripheral myelin protein-22 expression in charcot-marie-tooth disease type 1a sural nerve biopsies

1994 ◽  
Vol 37 (5) ◽  
pp. 654-659 ◽  
Author(s):  
C. O. Hanemann ◽  
G. Stoll ◽  
D. D'Urso ◽  
W. Fricke ◽  
J. J. Martin ◽  
...  
Keyword(s):  
Sural Nerve ◽  
Disease Type ◽  
Myelin Protein ◽  
Peripheral Myelin Protein 22 ◽  
Peripheral Myelin Protein ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A

1992 ◽  
Vol 1 (3) ◽  
pp. 159-165 ◽  
Author(s):  
Pragna I. Patel ◽  
Benjamin B. Roa ◽  
Andrew A. Welcher ◽  
Raymond Schoener-Scott ◽  
Barbara J. Trask ◽  
...  
Keyword(s):  
Disease Type ◽  
Myelin Protein ◽  
Peripheral Myelin Protein ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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