Auditory nerve is affected in one of two different point mutations of the neurofilament light gene

Clinical Neurophysiology

Volumn 119, Issue 2, 2008, Pages 367-375

  Butinar, Dušan ^a   Starr, Arnold ^b   Zidar, Janez ^a   Koutsou, Pantelitsa ^c   Christodoulou, Kyproula ^c  

^a UNIVERSITY OF LJUBLJANA   (Slovenia)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

Author keywords

Asymptomatic auditory neuropathy; Auditory brainstem responses; Hereditary neuropathy; NF L gene; Pathophysiological mechanisms; Point mutation

Indexed keywords

GLUTAMIC ACID; LYSINE; PROLINE; SERINE;

ADULT; AGED; ARTICLE; AUDIOGRAPHY; AUDIOLOGY; CLINICAL ARTICLE; COCHLEA; COCHLEAR NERVE; COMPREHENSION; EVOKED BRAIN STEM AUDITORY RESPONSE; FEMALE; GENE; HAIR CELL; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MIDDLE EAR; NERVE CONDUCTION; NEUROFILAMENT; NEUROPHYSIOLOGY; NF L GENE; OTOACOUSTIC EMISSION; PATHOPHYSIOLOGY; POINT MUTATION; PRIORITY JOURNAL; SPEECH; VESTIBULOCOCHLEAR NERVE DISEASE;

ACOUSTIC STIMULATION; ADOLESCENT; ADULT; AGED; CHARCOT-MARIE-TOOTH DISEASE; EVOKED POTENTIALS, AUDITORY, BRAIN STEM; FAMILY HEALTH; FEMALE; FUNCTIONAL LATERALITY; GLUTAMIC ACID; HUMANS; LYSINE; MALE; MIDDLE AGED; NEUROFILAMENT PROTEINS; POINT MUTATION; PROLINE; REACTION TIME; SERINE; VESTIBULOCOCHLEAR NERVE;

EID: 37349068201     PISSN: 13882457     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinph.2007.10.004     Document Type: Article

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