Dysmyelinating and demyelinating Charcot–Marie–Tooth disease associated with two myelin protein zero gene mutations-Reference-Cited by-同舟云学术

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Dysmyelinating and demyelinating Charcot–Marie–Tooth disease associated with two myelin protein zero gene mutations

Published:2010-11-03 Issue:2 Volume:52 Page:177-183
ISSN:1234-1983
Container-title:Journal of Applied Genetics
language:en
Short-container-title:J Appl Genetics

Author:

Drac Hanna,Kabzińska Dagmara,Moszyńska Izabela,Strugalska-Cynowska Halina,Hausmanowa-Petrusewicz Irena,Kochański Andrzej

Publisher

Springer Science and Business Media LLC

Subject

Genetics,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s13353-010-0003-3.pdf

Reference15 articles.

1. Aarskog NK, Vedeler CA (2000) Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot–Marie–Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. Hum Genet 107(5):494–498

2. Barisic N, Claeys KG, Sirotković-Skerlev M et al (2008) Charcot–Marie–Tooth disease: a clinico-genetic confrontation. Ann Hum Genet 72(Pt 3):416–441

3. Filbin MT, Walsh FS, Trapp BD et al (1990) Role of myelin P0 protein as a homophilic adhesion molecule. Nature 344(6269):871–872

4. Greenberg SA, Walsh RJ (2005) Molecular diagnosis of inheritable neuromuscular disorders. Part II: application of genetic testing in neuromuscular disease. Muscle Nerve 31:431–451

5. Harding AE, Thomas PK (1980) The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103(2):259–280

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1. Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot–Marie–Tooth disease in a Russian family: a case report;Journal of International Medical Research;2022-12

2. Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis—Literature Review;Case Reports in Pediatrics;2022-04-11

3. New evidence for secondary axonal degeneration in demyelinating neuropathies;Neuroscience Letters;2021-01

4. Genetic spectrum of Charcot–Marie–Tooth disease associated with myelin protein zero gene variants in Japan;Clinical Genetics;2020-11-27

5. Selective vulnerability in neuronal populations in nmd/SMARD1 mice;Human Molecular Genetics;2017-12-20

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