A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early‐onset
            Charcot‐Marie‐Tooth
            disease with predominant severe sensory ataxia

Charcot Marie Tooth ◽

Homozygous Variant ◽

Sensory Ataxia ◽

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 ◽

Cited By ~ 6

Author(s):

W. Marques Jr. ◽

M.G. Sweeney ◽

N.W. Wood

Keyword(s):

Amino Acid ◽

Amino Acid Substitution ◽

Clinical Phenotype ◽

Disease Type ◽

Myelin Protein ◽

Charcot Marie Tooth ◽

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 ◽

Cited By ~ 1

Author(s):

Akio OHNISHI ◽

Tatsunori YAMAMOTO ◽

Masato IKEDA

Keyword(s):

Gene Duplication ◽

Myelin Protein ◽

Charcot Marie Tooth ◽

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) ◽

Cited By ~ 22

Author(s):

Taichi Hara ◽

Yukiko Hashimoto ◽

Tomoko Akuzawa ◽

Rika Hirai ◽

Hisae Kobayashi ◽

...

Keyword(s):

Endoplasmic Reticulum ◽

Myelin Protein ◽

Charcot Marie Tooth ◽

Endoplasmic Reticulum Retention ◽

Early onset demyelinating Charcot‐Marie‐Tooth disease caused by a novel in‐frame isoleucine deletion in peripheral myelin protein 2

Journal of the Peripheral Nervous System ◽

10.1111/jns.12375 ◽

2020 ◽

Vol 25 (2) ◽

pp. 102-106 ◽

Cited By ~ 1

Author(s):

Alessandro Geroldi ◽

Valeria Prada ◽

Francesca Veneri ◽

Lucia Trevisan ◽

Paola Origone ◽

...

Keyword(s):

Early Onset ◽

Myelin Protein ◽

Charcot Marie Tooth ◽

Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease

Brain ◽

10.1093/brain/aws034 ◽

2012 ◽

Vol 135 (8) ◽

pp. e217-e217 ◽

Cited By ~ 4

Author(s):

G. Koutsis ◽

A. Pandraud ◽

J. M. Polke ◽

N. W. Wood ◽

M. Panas ◽

...

Keyword(s):

Myelin Protein ◽

Charcot Marie Tooth ◽

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 ◽

Cited By ~ 20

Author(s):

M. G. Marrosu ◽

S. Vaccargiu ◽

G. Marrosu ◽

A. Vannelli ◽

C. Cianchetti ◽

...

Keyword(s):

Point Mutation ◽

Disease Type ◽

Myelin Protein ◽

Pmp22 Gene ◽

Charcot Marie Tooth ◽

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 ◽

Cited By ~ 10

Author(s):

Sooyeon Lee ◽

Hannah Bazick ◽

Vinita Chittoor-Vinod ◽

Mohammed Omar Al Salihi ◽

Guangbin Xia ◽

...

Keyword(s):

Disease Type ◽

Dermal Fibroblasts ◽

Myelin Protein ◽

Charcot Marie Tooth ◽

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 ◽

Cited By ~ 103

Author(s):

Hiroo Yoshikawa ◽

Tomoya Nishimura ◽

Yuji Nakatsuji ◽

Harutoshi Fujimura ◽

Masato Himoro ◽

...

Keyword(s):

Peripheral Nerves ◽

Messenger Rna ◽

Disease Type ◽

Myelin Protein ◽

Charcot Marie Tooth ◽

Elevated Expression ◽

Downregulation of the human peripheral myelin protein 22 gene by miR-29a in cellular models of Charcot–Marie–Tooth disease

Gene Therapy ◽

10.1038/s41434-019-0098-z ◽

2019 ◽

Vol 26 (12) ◽

pp. 455-464 ◽

Cited By ~ 1

Author(s):

Jacquelyn Serfecz ◽

Hannah Bazick ◽

Mohammed Omar Al Salihi ◽

Peter Turner ◽

Christopher Fields ◽

...

Keyword(s):

Myelin Protein ◽

Charcot Marie Tooth ◽

Cellular Models ◽

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 ◽

Cited By ~ 27

Author(s):

Chikahiko Numakura ◽

Changqing Lin ◽

Nobuyuki Oka ◽

Ichiro Akiguchi ◽

Kiyoshi Hayasaka

Keyword(s):

Disease Type ◽

Myelin Protein ◽

Charcot Marie Tooth ◽