Literature DB >> 19448103

GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment.

A W Michell, M Laura, J Blake, M P Lunn, A Cox, V S Gibbons, M B Davis, N W Wood, H Manji, H Houlden, N M F Murray, M M Reilly.   

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Year:  2009        PMID： 19448103     DOI： 10.1136/jnnp.2008.150557

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  10 in total

1.  A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease.

Authors:  Marco Luigetti; Gian Maria Fabrizi; Federica Taioli; Alessandra Del Grande; Mauro Lo Monaco
Journal:  Neurol Sci       Date:  2014-05-21       Impact factor: 3.307

2.  A family with IVIg-responsive Charcot-Marie-Tooth disease.

Authors:  Yasuo Miki; Masahiko Tomiyama; Rie Haga; Haruo Nishijima; Chieko Suzuki; Aiichiro Kurihara; Kazuhiro Sugimoto; Akihiro Hashiguchi; Hiroshi Takashima; Masayuki Baba
Journal:  J Neurol       Date:  2012-12-12       Impact factor: 4.849

Review 3.  Mechanisms and Treatments in Demyelinating CMT.

Authors:  Vera Fridman; Mario A Saporta
Journal:  Neurotherapeutics       Date:  2021-11-08       Impact factor: 6.088

4.  Classification and diagnosis of the inherited neuropathies.

Authors:  Mary M Reilly
Journal:  Ann Indian Acad Neurol       Date:  2009-04       Impact factor: 1.383

Review 5.  New evidence for secondary axonal degeneration in demyelinating neuropathies.

Authors:  Kathryn R Moss; Taylor S Bopp; Anna E Johnson; Ahmet Höke
Journal:  Neurosci Lett       Date:  2020-12-24       Impact factor: 3.046

6.  Next-generation sequencing and genetic diagnosis of Charcot-Marie-Tooth disease.

Authors:  Ashok Verma
Journal:  Ann Indian Acad Neurol       Date:  2014-10       Impact factor: 1.383

7.  Clinical and biophysical characterization of 19 GJB1 mutations.

Authors:  Pei-Chien Tsai; De-Ming Yang; Yi-Chu Liao; Tai-Yu Chiu; Hung-Chou Kuo; Yu-Ping Su; Yuh-Cherng Guo; Bing-Wen Soong; Kon-Ping Lin; Yo-Tsen Liu; Yi-Chung Lee
Journal:  Ann Clin Transl Neurol       Date:  2016-09-01       Impact factor: 4.511

8.  Acute to Subacute Atraumatic Entrapment Neuropathies in Patients With CMT1A: A Report of a Distinct Phenotypic Variant of CMT1A.

Authors:  Zhiyong Chen; Monica Saini; Shermyn X M Neo; Peng-Soon Ng; Jasmine S Koh; Kalpana Prasad; Kamal Verma; Sonia Davila; Weng Khong Lim; Ziqun Phua; Michelle M Li; Corrine Kang; Karine S S Tay; Josiah Y H Chai
Journal:  Front Neurol       Date:  2022-02-25       Impact factor: 4.003

Review 9.  Clinical implications of genetic advances in Charcot-Marie-Tooth disease.

Authors:  Alexander M Rossor; James M Polke; Henry Houlden; Mary M Reilly
Journal:  Nat Rev Neurol       Date:  2013-09-10       Impact factor: 42.937

Review 10.  The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management.

Authors:  J Chad Hoyle; Michael C Isfort; Jennifer Roggenbuck; W David Arnold
Journal:  Appl Clin Genet       Date:  2015-10-19
  10 in total

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