-
1
-
-
0027180952
-
Genetic epidemiological studies of early-onset deafness in the U.S. school-age population
-
Marazita M.L., Ploughman L.M., Rawlings B., Remington E., Arnos K.S., Nance W.E. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am. J. Med. Genet. 1993, 46:486-491.
-
(1993)
Am. J. Med. Genet.
, vol.46
, pp. 486-491
-
-
Marazita, M.L.1
Ploughman, L.M.2
Rawlings, B.3
Remington, E.4
Arnos, K.S.5
Nance, W.E.6
-
2
-
-
19944432928
-
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment
-
Jacobs H.T., Hutchin T.P., Kappi T., Gillies G., Minkkinen K., Walker J., et al. Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. Eur. J. Hum. Genet. 2005, 13:26-33.
-
(2005)
Eur. J. Hum. Genet.
, vol.13
, pp. 26-33
-
-
Jacobs, H.T.1
Hutchin, T.P.2
Kappi, T.3
Gillies, G.4
Minkkinen, K.5
Walker, J.6
-
3
-
-
0035099018
-
Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies
-
Zwirner P., Wilichowski E. Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies. Laryngoscope 2001, 111:515-521.
-
(2001)
Laryngoscope
, vol.111
, pp. 515-521
-
-
Zwirner, P.1
Wilichowski, E.2
-
4
-
-
2342485638
-
Comprehensive molecular diagnosis of mitochondrial disorders: qualitative and quantitative approach
-
Wong L.J. Comprehensive molecular diagnosis of mitochondrial disorders: qualitative and quantitative approach. Ann. N.Y. Acad. Sci. 2004, 1011:246-258.
-
(2004)
Ann. N.Y. Acad. Sci.
, vol.1011
, pp. 246-258
-
-
Wong, L.J.1
-
5
-
-
18844443968
-
Kearns-Sayre syndrome: a case report and review of cardiovascular complications
-
Young T.J., Shah A.K., Lee M.H., Hayes D.L. Kearns-Sayre syndrome: a case report and review of cardiovascular complications. Pacing Clin. Electrophysiol. 2005, 28:454-457.
-
(2005)
Pacing Clin. Electrophysiol.
, vol.28
, pp. 454-457
-
-
Young, T.J.1
Shah, A.K.2
Lee, M.H.3
Hayes, D.L.4
-
6
-
-
1642463323
-
The MELAS syndrome. Review of the literature: the role of the otologist
-
Karkos P.D., Waldron M., Johnson I.J. The MELAS syndrome. Review of the literature: the role of the otologist. Clin Otolaryngol Allied Sci 2004, 29:1-4.
-
(2004)
Clin Otolaryngol Allied Sci
, vol.29
, pp. 1-4
-
-
Karkos, P.D.1
Waldron, M.2
Johnson, I.J.3
-
7
-
-
0029146967
-
Tissue distribution and disease manifestations of the tRNA(Lys) A-->G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres
-
Oldfors A., Holme E., Tulinius M., Larsson N.G. Tissue distribution and disease manifestations of the tRNA(Lys) A-->G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres. Acta Neuropathol. 1995, 90:328-333.
-
(1995)
Acta Neuropathol.
, vol.90
, pp. 328-333
-
-
Oldfors, A.1
Holme, E.2
Tulinius, M.3
Larsson, N.G.4
-
8
-
-
25144433792
-
Sensorineural hearing loss in patients with chronic progressive external ophthalmoplegia or Kearns-Sayre syndrome
-
Kornblum C., Broicher R., Walther E., Herberhold S., Klockgether T., Herberhold C., et al. Sensorineural hearing loss in patients with chronic progressive external ophthalmoplegia or Kearns-Sayre syndrome. J. Neurol. 2005, 252:1101-1107.
-
(2005)
J. Neurol.
, vol.252
, pp. 1101-1107
-
-
Kornblum, C.1
Broicher, R.2
Walther, E.3
Herberhold, S.4
Klockgether, T.5
Herberhold, C.6
-
10
-
-
0034791127
-
Audiological findings in patients with myoclonic epilepsy associated with ragged-red fibres
-
Tsutsumi T., Nishida H., Noguchi Y., Komatsuzaki A., Kitamura K. Audiological findings in patients with myoclonic epilepsy associated with ragged-red fibres. J. Laryngol. Otol. 2001, 115:777-781.
-
(2001)
J. Laryngol. Otol.
, vol.115
, pp. 777-781
-
-
Tsutsumi, T.1
Nishida, H.2
Noguchi, Y.3
Komatsuzaki, A.4
Kitamura, K.5
-
12
-
-
33750555569
-
Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy
-
Scaglia F., Hsu C.H., Kwon H., Bar R.K., Perng C.L., Chang H.M., et al. Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy. Genet. Med. 2006, 8:641-652.
-
(2006)
Genet. Med.
, vol.8
, pp. 641-652
-
-
Scaglia, F.1
Hsu, C.H.2
Kwon, H.3
Bar, R.K.4
Perng, C.L.5
Chang, H.M.6
-
13
-
-
32344452298
-
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment
-
Ballana E., Morales E., Rabionet R., Montserrat B., Ventayol M., Bravo O., et al. Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment. Biochem. Biophys. Res. Commun. 2006, 341:950-957.
-
(2006)
Biochem. Biophys. Res. Commun.
, vol.341
, pp. 950-957
-
-
Ballana, E.1
Morales, E.2
Rabionet, R.3
Montserrat, B.4
Ventayol, M.5
Bravo, O.6
-
14
-
-
0033208737
-
Auditory neuropathy and a mitochondrial disorder in a child: case study
-
Corley V.M., Crabbe L.S. Auditory neuropathy and a mitochondrial disorder in a child: case study. J. Am. Acad. Audiol. 1999, 10:484-488.
-
(1999)
J. Am. Acad. Audiol.
, vol.10
, pp. 484-488
-
-
Corley, V.M.1
Crabbe, L.S.2
-
15
-
-
1642482965
-
Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy
-
Ceranicó B., Luxon L.M. Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy. J. Neurol. Neurosurg. Psychiatry 2004, 75:626-630.
-
(2004)
J. Neurol. Neurosurg. Psychiatry
, vol.75
, pp. 626-630
-
-
Ceranicó, B.1
Luxon, L.M.2
-
16
-
-
33750691990
-
Auditory neuropathy in a patient with mitochondrial myopathy and multiple mtDNA deletions
-
Forli F., Mancuso M., Santoro A., Dotti M.T., Siciliano G., Berrettini S. Auditory neuropathy in a patient with mitochondrial myopathy and multiple mtDNA deletions. J. Laryngol. Otol. 2006, 120:888-891.
-
(2006)
J. Laryngol. Otol.
, vol.120
, pp. 888-891
-
-
Forli, F.1
Mancuso, M.2
Santoro, A.3
Dotti, M.T.4
Siciliano, G.5
Berrettini, S.6
-
17
-
-
75149151905
-
Multi-site diagnosis and management of 260 patients with auditory neuropathy/dys-synchrony (auditory neuropathy spectrum disorder)
-
Berlin C.I., Hood L.J., Morlet T., Wilensky D., Li L., Mattingly K.R., et al. Multi-site diagnosis and management of 260 patients with auditory neuropathy/dys-synchrony (auditory neuropathy spectrum disorder). Int. J. Audiol. 2010, 49:30-43.
-
(2010)
Int. J. Audiol.
, vol.49
, pp. 30-43
-
-
Berlin, C.I.1
Hood, L.J.2
Morlet, T.3
Wilensky, D.4
Li, L.5
Mattingly, K.R.6
-
18
-
-
0019593384
-
Uses and abuses of hearing loss classification
-
Clark J.G. Uses and abuses of hearing loss classification. ASHA 1981, 23:493-500.
-
(1981)
ASHA
, vol.23
, pp. 493-500
-
-
Clark, J.G.1
-
19
-
-
0030021109
-
Auditory findings in patients with maternally inherited diabetes and deafness harboring a point mutation in the mitochondrial transfer RNA(Leu) (UUR) gene
-
Yamasoba T., Oka Y., Tsukuda K., Nakamura M., Kaga K. Auditory findings in patients with maternally inherited diabetes and deafness harboring a point mutation in the mitochondrial transfer RNA(Leu) (UUR) gene. Laryngoscope 1996, 106:49-53.
-
(1996)
Laryngoscope
, vol.106
, pp. 49-53
-
-
Yamasoba, T.1
Oka, Y.2
Tsukuda, K.3
Nakamura, M.4
Kaga, K.5
-
20
-
-
0026042096
-
Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF)
-
Seibel P., Degoul F., Bonne G., Romero N., Francois D., Paturneau-Jouas M., et al. Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF). J. Neurol. Sci. 1991, 105:217-224.
-
(1991)
J. Neurol. Sci.
, vol.105
, pp. 217-224
-
-
Seibel, P.1
Degoul, F.2
Bonne, G.3
Romero, N.4
Francois, D.5
Paturneau-Jouas, M.6
-
21
-
-
0031914941
-
Cochlear origin of hearing loss in MELAS syndrome
-
Sue C.M., Lipsett L.J., Crimmins D.S., Tsang C.S., Boyages S.C., Presgrave C.M., et al. Cochlear origin of hearing loss in MELAS syndrome. Ann. Neurol. 1998, 43:350-359.
-
(1998)
Ann. Neurol.
, vol.43
, pp. 350-359
-
-
Sue, C.M.1
Lipsett, L.J.2
Crimmins, D.S.3
Tsang, C.S.4
Boyages, S.C.5
Presgrave, C.M.6
|