-
2
-
-
38849192448
-
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes
-
DOI 10.1093/brain/awm298
-
Amati-Bonneau P., Valentino M.L., Reynier P. et al. 2008. OPA1 mutations induce mitochondrial DNA instability and optic atrophy ' plus' phenotypes. Brain , 131, 338-351. (Pubitemid 351197609)
-
(2008)
Brain
, vol.131
, Issue.2
, pp. 338-351
-
-
Amati-Bonneau, P.1
Valentino, M.L.2
Reynier, P.3
Gallardo, M.E.4
Bornstein, B.5
Boissiere, A.6
Campos, Y.7
Rivera, H.8
De La Aleja, J.G.9
Carroccia, R.10
Iommarini, L.11
Labauge, P.12
Figarella-Branger, D.13
Marcorelles, P.14
Furby, A.15
Beauvais, K.16
Letournel, F.17
Liguori, R.18
La Morgia, C.19
Montagna, P.20
Liguori, M.21
Zanna, C.22
Rugolo, M.23
Cossarizza, A.24
Wissinger, B.25
Verny, C.26
Schwarzenbacher, R.27
Martin, M.A.28
Arenas, J.29
Ayuso, C.30
Garesse, R.31
Lenaers, G.32
Bonneau, D.33
Carelli, V.34
more..
-
3
-
-
78751642516
-
The mitochondrial connection in auditory neuropathy
-
Cacace A.T. & Pinheiro J.M.B. 2011. The mitochondrial connection in auditory neuropathy. Audiol Neurotol , 16, 398-413.
-
(2011)
Audiol. Neurotol.
, vol.16
, pp. 398-413
-
-
Cacace, A.T.1
Pinheiro, J.M.B.2
-
4
-
-
1642482965
-
Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy
-
DOI 10.1136/jnnp.2003.017673
-
Ceranic B. & Luxon L.M. 2004. Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy. J Neurol Neurosurg Psych , 75, 626-630. (Pubitemid 38406665)
-
(2004)
Journal of Neurology, Neurosurgery and Psychiatry
, vol.75
, Issue.4
, pp. 626-630
-
-
Ceranic, B.1
Luxon, L.M.2
-
5
-
-
33749578807
-
Association between vision and hearing impairments and their combined effects on quality of life
-
DOI 10.1001/archopht.124.10.1465
-
Chia E.M., Mitchell P., Rochtchina E. et al. 2006. Association between vision and hearing impairments and their combined effects on quality of life. Arch Opthalmol , 124 (10), 1465-1470. (Pubitemid 44537148)
-
(2006)
Archives of Ophthalmology
, vol.124
, Issue.10
, pp. 1465-1470
-
-
Chia, E.-M.1
Mitchell, P.2
Rochtchina, E.3
Foran, S.4
Golding, M.5
Jie, J.W.6
-
6
-
-
0034337758
-
Classroom acoustics for children with normal hearing and with hearing impairment
-
Crandell C.C. & Smaldino J.J. 2000. Classroom acoustics for children with normal hearing and with hearing impairment. Lang Speech Hear Services in Schools , 31, 362-370.
-
(2000)
Lang Speech Hear Services in Schools
, vol.31
, pp. 362-370
-
-
Crandell, C.C.1
Smaldino, J.J.2
-
7
-
-
0029845551
-
Brainstem involvement in Leber's hereditary optic neuropathy: Association with the 14 484 mitochondrial DNA mutation [6]
-
Funalot B., Ranoux D., Mas J.L., Garcia C. & Bonnefont J.P. 1996. Brainstem involvement in Leber's hereditary optic neuropathy: Association with the 14,484 mitochondrial genetic mutation. J Neurol Neurosurg Psychiatry , 61, 533-534. (Pubitemid 26394921)
-
(1996)
Journal of Neurology Neurosurgery and Psychiatry
, vol.61
, Issue.5
, pp. 533-534
-
-
Funalot, B.1
Ranoux, D.2
Mas, J.-L.3
Garcia, C.4
Bonnefont, J.-P.5
-
8
-
-
73949083946
-
Mutation of OPA1 gene causes deafness affecting function of auditory nerve terminals
-
Huang T., Santarelli R. & Starr A. 2009. Mutation of OPA1 gene causes deafness affecting function of auditory nerve terminals. Brain Res , 1300, 97-104.
-
(2009)
Brain Res.
, vol.1300
, pp. 97-104
-
-
Huang, T.1
Santarelli, R.2
Starr, A.3
-
9
-
-
55649114157
-
Mitochondrial DNA damage and its potential role in retinal degeneration
-
Jarrett S.G., Lin H., Godley B.F. & Boulton M.E. 2008. Mitochondrial DNA damage and its potential role in retinal degeneration. Pro Ret Eye Res , 27(6), 596-607.
-
(2008)
Pro. Ret. Eye Res.
, vol.27
, Issue.6
, pp. 596-607
-
-
Jarrett, S.G.1
Lin, H.2
Godley, B.F.3
Boulton, M.E.4
-
10
-
-
67651087105
-
Mitochondrial dysfunction in glaucoma
-
Kong G., Trounce I.A., Van Bergen N. & Crowston J.G. 2009. Mitochondrial dysfunction in glaucoma. Journal of Glaucoma , 83, 93-100.
-
(2009)
Journal of Glaucoma
, vol.83
, pp. 93-100
-
-
Kong, G.1
Trounce, I.A.2
Van Bergen, N.3
Crowston, J.G.4
-
11
-
-
4744351639
-
Coincidence of normal tension glaucoma, progressive sensorineural hearing loss, and elevated antiphosphatidylserine antibodies
-
DOI 10.1136/bjo.2003.040832
-
Kremmer S., Kreuzfelder E., Bachor E., Jahnke K., Selbach J.M. et al. 2004. Coincidence of normal tension glaucoma, progressive sensorineural hearing loss and elevated antiphosphatidylserine antibodies. Br J Opthalmol , 88, 1259-1262. (Pubitemid 39312967)
-
(2004)
British Journal of Ophthalmology
, vol.88
, Issue.10
, pp. 1259-1262
-
-
Kremmer, S.1
Kreuzfelder, E.2
Bachor, E.3
Jahnke, K.4
Selbach, J.M.5
Seidahmadi, S.6
-
12
-
-
0025295949
-
BAEP changes in Leber's hereditary optic atrophy: Further confirmation of multisystem involvement
-
Mondelli M., Rossi A., Scarpini C., Dotti M.T. & Federico A. 1990. BAEP changes in Leber's hereditary optic neuropathy: Further confirmation of multisystem involvement. Acta Neurol Scand , 81, 349-353. (Pubitemid 20174138)
-
(1990)
Acta Neurologica Scandinavica
, vol.81
, Issue.4
, pp. 349-353
-
-
Mondelli, M.1
Rossi, A.2
Scarpini, C.3
Dotti, M.T.4
Federico, A.5
-
13
-
-
77952951521
-
Auditory perception in individuals with friedreich ataxia
-
Rance G., Corben L., Barker E. et al. 2010a. Auditory perception in individuals with Friedreich ataxia. Audiol & Neurotol , 15, 229-240.
-
(2010)
Audiol. & Neurotol.
, vol.15
, pp. 229-240
-
-
Rance, G.1
Corben, L.2
Barker, E.3
-
14
-
-
78149285630
-
Successful treatment of auditory perceptual disorder in individuals with friedreich ataxia
-
Rance G., Corben L.A., DuBourg E., King A. & Delatycki M.B. 2010b. Successful treatment of auditory perceptual disorder in individuals with Friedreich ataxia. Neuroscience , 171, 552-555.
-
(2010)
Neuroscience
, vol.171
, pp. 552-555
-
-
Rance, G.1
Corben, L.A.2
DuBourg, E.3
King, A.4
Delatycki, M.B.5
-
15
-
-
49449099721
-
Speech perception ability in individuals with friedreich ataxia
-
Rance G., Fava R., Baldock H. et al. 2008. Speech perception ability in individuals with Friedreich ataxia. Brain , 131, 2002-2012.
-
(2008)
Brain
, vol.131
, pp. 2002-2012
-
-
Rance, G.1
Fava, R.2
Baldock, H.3
-
16
-
-
0842321059
-
Perceptual characterization of children with auditory neuropathy
-
DOI 10.1097/01.AUD.0000111259.59690.B8
-
Rance G., McKay C. & Grayden D. 2004. Perceptual characterisation of children with auditory neuropathy. Ear Hear , 25, 34-46. (Pubitemid 38182603)
-
(2004)
Ear and Hearing
, vol.25
, Issue.1
, pp. 34-46
-
-
Rance, G.1
McKay, C.2
Grayden, D.3
-
17
-
-
0037250579
-
Motion perception in glaucoma patients: A review
-
DOI 10.1016/S0039-6257(02)00401-0, PII S0039625702004010
-
Shabana N., Cornilleau-Peres V., Carkett A. & Chew P.T.K. 2003. Motion perception in glaucoma patients: A review. Surv Opthalmol , 48(1), 92-106. (Pubitemid 36138823)
-
(2003)
Survey of Ophthalmology
, vol.48
, Issue.1
, pp. 92-106
-
-
Shabana, N.1
Peres, V.C.2
Carkeet, A.3
Chew, P.T.K.4
-
18
-
-
0030975662
-
Lack of association between hearing loss and glaucoma
-
Shapiro A., Siglock T.J., Ritch R. & Malinoff R. 1997. Lack of association between hearing loss and glaucoma. Am J Otology , 18(2), 172-174. (Pubitemid 27146129)
-
(1997)
American Journal of Otology
, vol.18
, Issue.2
, pp. 172-174
-
-
Shapiro, A.1
Siglock, T.J.2
Ritch, R.3
Malinoff, R.4
-
19
-
-
0025785479
-
Absence of both auditory evoked potentials and auditory percepts dependent on timing cues
-
Starr A., McPherson D., Patterson J., Don M, Luxford W. et al. 1991. Absence of both auditory evoked potentials and auditory percepts dependent on timing cues. Brain , 114, 1157-1180.
-
(1991)
Brain
, vol.114
, pp. 1157-1180
-
-
Starr, A.1
McPherson, D.2
Patterson, J.3
Don, M.4
Luxford, W.5
-
20
-
-
0029886187
-
Auditory neuropathy
-
DOI 10.1093/brain/119.3.741
-
Starr A., Picton T.W., Sininger Y.S., Hood L.J. & Berlin C.I. 1996. Auditory neuropathy. Brain , 119(3), 741-753. (Pubitemid 26237173)
-
(1996)
Brain
, vol.119
, Issue.3
, pp. 741-753
-
-
Starr, A.1
Picton, T.W.2
Sininger, Y.3
Hood, L.J.4
Berlin, C.I.5
-
21
-
-
0029075683
-
Motion perception deficits in glaucomatous optic neuropathy
-
Trick G.L., Steinman S.B. & Amyot M. 1995. Motion perception deficits in glaucomatous optic neuropathy. Vision Res , 35(15), 2225-2233.
-
(1995)
Vision Res.
, vol.35
, Issue.15
, pp. 2225-2233
-
-
Trick, G.L.1
Steinman, S.B.2
Amyot, M.3
-
22
-
-
0028935319
-
A new X-linked recessive deafness syndrome with blindness dystonia fractures and mental deficiency is linked to Xq22
-
Tranebjaerg L., Schwartz C., Eriksen H. et al. 1995. A new X-linked recessive deafness syndrome with blindness, dystonia, fractures and mental deficiency is linked to Xq22. J Med Genet , 32, 257-263.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 257-263
-
-
Tranebjaerg, L.1
Schwartz, C.2
Eriksen, H.3
-
23
-
-
0019417389
-
Specific deficits of flicker sensitivity in glaucoma and ocular hypertension
-
Tyler C.W. 1981. Specific deficits of fl icker sensitivity in glaucoma and ocular hypertension. Invest Ophthalmol Vis Sci , 20(2), 204-12. (Pubitemid 11060837)
-
(1981)
Investigative Ophthalmology and Visual Science
, vol.20
, Issue.2
, pp. 204-212
-
-
Tyler, C.W.1
-
24
-
-
0018564438
-
Temporal modulation transfer functions based upon modulation thresholds
-
Viemeister N.F. 1979. Temporal modulation transfer functions based on modulation thresholds. J Acoust Soc Am , 66, 1364-1380. (Pubitemid 10098323)
-
(1979)
Journal of the Acoustical Society of America
, vol.66
, Issue.5
, pp. 1364-1380
-
-
Viemeister, N.F.1
-
25
-
-
0025806204
-
Hereditary motor and sensory neuropathy HMSN & optic atrophy HMSN type VI vizioli
-
Weiller C. & Ferbert A. 1990. Hereditary motor and sensory neuropathy (HMSN) & optic atrophy (HMSN Type VI, Vizioli). Eur Arch Psychiatry Clin Neuroscience , 240, 246-249.
-
(1990)
Eur. Arch. Psychiatry Clin. Neuroscience
, vol.240
, pp. 246-249
-
-
Weiller, C.1
Ferbert, A.2
-
26
-
-
2442643730
-
Primary open angle glaucoma
-
Weinreb R.N. & Khaw P.T. 2004. Primary open angle glaucoma. Lancet , 363, 1711.
-
(2004)
Lancet
, vol.363
, pp. 1711
-
-
Weinreb, R.N.1
Khaw, P.T.2
|