Literature DB >> 3876135

Neuro-otological abnormalities in xeroderma pigmentosum with particular reference to deafness.

G S Kenyon, J B Booth, D K Prasher, P Rudge.   

Abstract

The neuro-otological findings are described in 3 unrelated patients who had xeroderma pigmentosum. All had impaired hearing. Routine audiometric assessment suggested that the hearing loss was of cochlear origin; brainstem evoked potentials in 2 patients and electrocochleography in 1 support this conclusion. Two adult patients had a supranuclear ophthalmoplegia. Vestibular function was mildly deranged and visual suppression of the vestibulo-ocular reflex impaired.

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Year:  1985        PMID： 3876135     DOI： 10.1093/brain/108.3.771

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


  9 in total

1.  Real-time quantification of Xeroderma pigmentosum mRNA from the mammalian cochlea.

Authors:  O'neil W Guthrie; Franklin A Carrero-Martínez
Journal:  Ear Hear       Date:  2010-10       Impact factor: 3.570

Review 2.  The inner ear and the neurologist.

Authors:  Charlotte Agrup; Michael Gleeson; Peter Rudge
Journal:  J Neurol Neurosurg Psychiatry       Date:  2007-02       Impact factor: 10.154

3.  Preincision complex-I from the excision nuclease reaction among cochlear spiral limbus and outer hair cells.

Authors:  O'neil W Guthrie
Journal:  J Mol Histol       Date:  2008-11-01       Impact factor: 2.611

Review 4.  The DNA damage-recognition problem in human and other eukaryotic cells: the XPA damage binding protein.

Authors:  J E Cleaver; J C States
Journal:  Biochem J       Date:  1997-11-15       Impact factor: 3.857

5.  Histopathology of the inner ear in patients with xeroderma pigmentosum and neurologic degeneration.

Authors:  Lucas M Viana; Mohammad Seyyedi; Carmen C Brewer; Christopher Zalewski; John J DiGiovanna; Deborah Tamura; Mariam Totonchy; Kenneth H Kraemer; Joseph B Nadol
Journal:  Otol Neurotol       Date:  2013-09       Impact factor: 2.311

6.  Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.

Authors:  Mariam B Totonchy; Deborah Tamura; Matthew S Pantell; Christopher Zalewski; Porcia T Bradford; Saumil N Merchant; Joseph Nadol; Sikandar G Khan; Raphael Schiffmann; Tyler Mark Pierson; Edythe Wiggs; Andrew J Griffith; John J DiGiovanna; Kenneth H Kraemer; Carmen C Brewer
Journal:  Brain       Date:  2013-01       Impact factor: 13.501

7.  Imaging Ca(2+) activity in mammalian cells and zebrafish with a novel red-emitting aequorin variant.

Authors:  Adil Bakayan; Beatriz Domingo; Atsushi Miyawaki; Juan Llopis
Journal:  Pflugers Arch       Date:  2014-10-31       Impact factor: 3.657

8.  The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D).

Authors:  Jin-Ping Lai; Yen-Chun Liu; Meghna Alimchandani; Qingyan Liu; Phyu Phyu Aung; Kant Matsuda; Chyi-Chia R Lee; Maria Tsokos; Stephen Hewitt; Elisabeth J Rushing; Deborah Tamura; David L Levens; John J Digiovanna; Howard A Fine; Nicholas Patronas; Sikandar G Khan; David E Kleiner; J Carl Oberholtzer; Martha M Quezado; Kenneth H Kraemer
Journal:  Acta Neuropathol Commun       Date:  2013-05-08       Impact factor: 7.801

9.  Hearing Dysfunction in Xpa-Deficient Mice.

Authors:  Hitomi Shinomiya; Daisuke Yamashita; Takeshi Fujita; Eiji Nakano; Go Inokuchi; Shingo Hasegawa; Naoki Otsuki; Chikako Nishigori; Ken-Ichi Nibu
Journal:  Front Aging Neurosci       Date:  2017-02-10       Impact factor: 5.750
  9 in total

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