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

Neurology ◽

10.1212/wnl.48.2.489 ◽

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 ◽

Peripheral Myelin Protein 22 ◽

Peripheral Myelin Protein ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

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Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication

Brazilian Journal of Medical and Biological Research ◽

10.1590/s0100-879x2003001000018 ◽

2003 ◽

Vol 36 (10) ◽

pp. 1403-1407 ◽

Author(s):

W. Marques Jr. ◽

M.G. Sweeney ◽

N.W. Wood

Keyword(s):

Amino Acid Substitution ◽

Clinical Phenotype ◽

Disease Type ◽

Myelin Protein ◽

Peripheral Myelin Protein 22 ◽

Peripheral Myelin Protein ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

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Elevated Peripheral Myelin Protein 22, Reduced Mitotic Potential, and Proteasome Impairment in Dermal Fibroblasts from Charcot-Marie-Tooth Disease Type 1A Patients

American Journal Of Pathology ◽

10.1016/j.ajpath.2017.10.021 ◽

2018 ◽

Vol 188 (3) ◽

pp. 728-738 ◽

Author(s):

Sooyeon Lee ◽

Hannah Bazick ◽

Vinita Chittoor-Vinod ◽

Mohammed Omar Al Salihi ◽

Guangbin Xia ◽

...

Keyword(s):

Disease Type ◽

Dermal Fibroblasts ◽

Myelin Protein ◽

Peripheral Myelin Protein 22 ◽

Peripheral Myelin Protein ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

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Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A

Annals of Neurology ◽

10.1002/ana.410350412 ◽

1994 ◽

Vol 35 (4) ◽

pp. 445-450 ◽

Author(s):

Hiroo Yoshikawa ◽

Tomoya Nishimura ◽

Yuji Nakatsuji ◽

Harutoshi Fujimura ◽

Masato Himoro ◽

...

Keyword(s):

Peripheral Nerves ◽

Messenger Rna ◽

Disease Type ◽

Myelin Protein ◽

Peripheral Myelin Protein 22 ◽

Peripheral Myelin Protein ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Elevated Expression ◽

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Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1

Annals of Neurology ◽

10.1002/1531-8249(200001)47:1<101::aid-ana16>3.0.co;2-2 ◽

2000 ◽

Vol 47 (1) ◽

pp. 101-103 ◽

Author(s):

Chikahiko Numakura ◽

Changqing Lin ◽

Nobuyuki Oka ◽

Ichiro Akiguchi ◽

Kiyoshi Hayasaka

Keyword(s):

Disease Type ◽

Myelin Protein ◽

Peripheral Myelin Protein 22 ◽

Peripheral Myelin Protein ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

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Accumulation of peripheral myelin protein 22 (PMP22) in onion bulbs of nerves biopsied from patients with different subtypes of Charcot-Marie-Tooth disease type 1

Acta Neuropathologica ◽

10.1007/s004010050742 ◽

1997 ◽

Vol 94 (5) ◽

pp. 514-516

Author(s):

Thomas Liehr ◽

Holger Grehl ◽

B. Rautenstrauss

Keyword(s):

Disease Type ◽

Myelin Protein ◽

Peripheral Myelin Protein 22 ◽

Peripheral Myelin Protein ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Onion Bulbs ◽

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

Journal of Neuroscience Research ◽

10.1002/jnr.490370513 ◽

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 ◽

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

Acta Neuropathologica ◽

10.1007/s004010050546 ◽

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 ◽

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Small Axons Relative to Number of Myelin Lamellae in Charcot-Marie-Tooth Disease 1A with Peripheral Myelin Protein 22 Gene Duplication

Journal of UOEH ◽

10.7888/juoeh.22.107 ◽

2000 ◽

Vol 22 (2) ◽

pp. 107-117 ◽

Author(s):

Akio OHNISHI ◽

Tatsunori YAMAMOTO ◽

Masato IKEDA

Keyword(s):

Gene Duplication ◽

Myelin Protein ◽

Peripheral Myelin Protein 22 ◽

Peripheral Myelin Protein ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

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Rer1 and calnexin regulate endoplasmic reticulum retention of a peripheral myelin protein 22 mutant that causes type 1A Charcot-Marie-Tooth disease

Scientific Reports ◽

10.1038/srep06992 ◽

2014 ◽

Vol 4 (1) ◽

Author(s):

Taichi Hara ◽

Yukiko Hashimoto ◽

Tomoko Akuzawa ◽

Rika Hirai ◽

Hisae Kobayashi ◽

...

Keyword(s):

Endoplasmic Reticulum ◽

Myelin Protein ◽

Peripheral Myelin Protein 22 ◽

Peripheral Myelin Protein ◽

Charcot Marie Tooth ◽

Endoplasmic Reticulum Retention ◽

Charcot Marie Tooth Disease ◽

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

Nature Genetics ◽

10.1038/ng0692-159 ◽

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 ◽

Download Full-text