A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss

By Noguchi Yoshihiro   Yashima Takatoshi   Hatanaka Akio   Uzawa Masamichi   Yasunami Michio   Kimura Akinori   Kitamura Ken  

Acta Oto-Laryngologica, Vol. 125, Iss. 11, 2005-11 ,pp. : 1189-1194

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Unique penetrance of hearing loss in a five-generation Chinese family with the mitochondrial 12S rRNA 1555A > G mutation

By Men Meichao   Jiang Lu   Wang Honghan   Liu Yalan   Hu Zhengmao   He Chufeng   Feng Yong  

Acta Oto-Laryngologica, Vol. 131, Iss. 9, 2011-09 ,pp. : 970-975

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Coenzyme Q-10 treatment of patients with a 7445A→G mitochondrial DNA mutation stops the progression of hearing loss

By Angeli Simon   Liu Xue   Yan Denise   Balkany Thomas   Telischi Fred  

Acta Oto-Laryngologica, Vol. 125, Iss. 5, 2005-05 ,pp. : 510-512

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The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene

By Amati-Bonneau P.   Odent S.   Derrien C.   Pasquier L.   Malthiery Y.   Reynier P.   Bonneau D.  

American Journal of Ophthalmology, Vol. 136, Iss. 6, 2003-12 ,pp. : 1170-1171

Elsevier

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Three common GJB2 mutations causing nonsyndromic hearing loss in Chinese populations are retained in the endoplasmic reticulum

By Zhang Yanping   Wang Ju   Li Lina   Sun Yurui   Feng Bo  

Acta Oto-Laryngologica, Vol. 130, Iss. 7, 2010-07 ,pp. : 799-803

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