Literature DB >> 17663472

Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene.

Dagmara Kabzińska1, Teresa Korwin-Piotrowska, Hanna Drechsler, Hanna Drac, Irena Hausmanowa-Petrusewicz, Andrzej Kochański.   

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Year:  2007        PMID： 17663472     DOI： 10.1002/ajmg.a.31908

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  8 in total

1.  Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment.

Authors:  D Kabzińska; E Sinkiewicz-Darol; I Hausmanowa-Petrusewicz; A Kochański
Journal:  J Appl Genet       Date:  2010       Impact factor: 3.240

Review 2.  Auditory neuropathy--neural and synaptic mechanisms.

Authors:  Tobias Moser; Arnold Starr
Journal:  Nat Rev Neurol       Date:  2016-02-19       Impact factor: 42.937

3.  Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype.

Authors:  Ilaria Callegari; C Gemelli; A Geroldi; F Veneri; P Mandich; M D'Antonio; D Pareyson; M E Shy; A Schenone; V Prada; M Grandis
Journal:  J Neurol       Date:  2019-07-05       Impact factor: 4.849

Review 4.  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

5.  A Novel Asp121Asn Mutation of Myelin Protein Zero Is Associated with Late-Onset Axonal Charcot-Marie-Tooth Disease, Hearing Loss and Pupil Abnormalities.

Authors:  Xiaohui Duan; Weihong Gu; Ying Hao; Renbin Wang; Hong Wen; Shaojie Sun; Jinsong Jiao; Dongsheng Fan
Journal:  Front Aging Neurosci       Date:  2016-09-22       Impact factor: 5.750

6.  Transient auditory nerve demyelination as a new mechanism for hidden hearing loss.

Authors:  Guoqiang Wan; Gabriel Corfas
Journal:  Nat Commun       Date:  2017-02-17       Impact factor: 14.919

7.  Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.

Authors:  Michaela Auer-Grumbach; Martin Weger; Regina Fink-Puches; Lea Papić; Eleonore Fröhlich; Piet Auer-Grumbach; Laila El Shabrawi-Caelen; Maria Schabhüttl; Christian Windpassinger; Jan Senderek; Herbert Budka; Slave Trajanoski; Andreas R Janecke; Anton Haas; Dieter Metze; Thomas R Pieber; Christian Guelly
Journal:  Brain       Date:  2011-05-15       Impact factor: 13.501

Review 8.  Auditory Neuropathy Spectrum Disorders: From Diagnosis to Treatment: Literature Review and Case Reports.

Authors:  Romolo Daniele De Siati; Flora Rosenzweig; Guillaume Gersdorff; Anaïs Gregoire; Philippe Rombaux; Naïma Deggouj
Journal:  J Clin Med       Date:  2020-04-10       Impact factor: 4.241
  8 in total

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