Literature DB >> 24136314

Spiral ganglion deficiency in adult-onset deafness-dystonia syndrome.

Michael Hoa1, Fred H Linthicum.   

Abstract

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Mesh：

Year:  2013        PMID： 24136314      PMCID： PMC3830700          DOI： 10.1097/MAO.0b013e3182a09b3b

Source DB:  PubMed          Journal:  Otol Neurotol        ISSN： 1531-7129            Impact factor:   2.311


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  4 in total

1.  Temporal bone histopathologic and genetic studies in Mohr-Tranebjaerg syndrome (DFN-1).

Authors:  S N Merchant; M J McKenna; J B Nadol; A G Kristiansen; A Tropitzsch; S Lindal; L Tranebjaeizrg
Journal:  Otol Neurotol       Date:  2001-07       Impact factor: 2.311

2.  A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome.

Authors:  L Tranebjaerg; B C Hamel; F J Gabreels; W O Renier; M Van Ghelue
Journal:  Eur J Hum Genet       Date:  2000-06       Impact factor: 4.246

3.  The syndrome of deafness-dystonia: clinical and genetic heterogeneity.

Authors:  Maja Kojovic; Isabel Pareés; Tania Lampreia; Karolina Pienczk-Reclawowicz; Georgia Xiromerisiou; Ignacio Rubio-Agusti; Milica Kramberger; Miryam Carecchio; Anas M Alazami; Francesco Brancati; Jaroslaw Slawek; Zvezdan Pirtosek; Enza Maria Valente; Fowzan S Alkuraya; Mark J Edwards; Kailash P Bhatia
Journal:  Mov Disord       Date:  2013-02-15       Impact factor: 10.338

4.  Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome.

Authors:  James T Brookes; Adam B Kanis; Lih Yeen Tan; Lisbeth Tranebjaerg; Abram Vore; Richard J H Smith
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2007-10-15       Impact factor: 1.675
  4 in total
  1 in total

Review 1.  X-Linked Sensorineural Hearing Loss: A Literature Review.

Authors:  Virginia Corvino; Pasqualina Apisa; Rita Malesci; Carla Laria; Gennaro Auletta; Annamaria Franzé
Journal:  Curr Genomics       Date:  2018-08       Impact factor: 2.236
  1 in total

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