-
1
-
-
19344362785
-
Perceptual consequences of disrupted auditory nerve activity
-
Zeng F.-G., Kong Y.-Y., Michalewski H.J., Starr A. Perceptual consequences of disrupted auditory nerve activity. J. Neurophysiol. 2005, 93:3050-3063.
-
(2005)
J. Neurophysiol.
, vol.93
, pp. 3050-3063
-
-
Zeng, F.-G.1
Kong, Y.-Y.2
Michalewski, H.J.3
Starr, A.4
-
3
-
-
0019140678
-
Quantifiable hearing and no ABR: paradox or error?
-
Worthington D.W., Peters J.F. Quantifiable hearing and no ABR: paradox or error?. Ear Hear. 1980, 1:281-285.
-
(1980)
Ear Hear.
, vol.1
, pp. 281-285
-
-
Worthington, D.W.1
Peters, J.F.2
-
4
-
-
0020564452
-
Frequency selectivity and temporal processing in Friedreich's ataxia: clinical aspects in two patients
-
Cacace A.T., Satya-Murti S., Grimes C.T. Frequency selectivity and temporal processing in Friedreich's ataxia: clinical aspects in two patients. Ann. Otol. Rhinol. Laryngol. 1983, 92:276-280.
-
(1983)
Ann. Otol. Rhinol. Laryngol.
, vol.92
, pp. 276-280
-
-
Cacace, A.T.1
Satya-Murti, S.2
Grimes, C.T.3
-
5
-
-
0021359470
-
Absent auditory brain stem response: peripheral hearing loss or brain stem dysfunction?
-
Kraus N., Ozdamar O., Stein L., Reed N. Absent auditory brain stem response: peripheral hearing loss or brain stem dysfunction?. Laryngoscope 1984, 94:400-406.
-
(1984)
Laryngoscope
, vol.94
, pp. 400-406
-
-
Kraus, N.1
Ozdamar, O.2
Stein, L.3
Reed, N.4
-
6
-
-
67651146933
-
Auditory neuropathy: unexpectedly common in a screened newborn population
-
Dowley A.C., Whitehouse W.P., Mason S.M., Cope Y., Grant J., Gibbin K.P. Auditory neuropathy: unexpectedly common in a screened newborn population. Dev. Med. Child Neurol. 2009, 61(8):642-646.
-
(2009)
Dev. Med. Child Neurol.
, vol.61
, Issue.8
, pp. 642-646
-
-
Dowley, A.C.1
Whitehouse, W.P.2
Mason, S.M.3
Cope, Y.4
Grant, J.5
Gibbin, K.P.6
-
7
-
-
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., Mattingly K.R., Taylor-Jeanfreau J., John P.S., 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
Mattingly, K.R.4
Taylor-Jeanfreau, J.5
John, P.S.6
-
8
-
-
0023552507
-
Low frequency sensorineural hearing loss: a syndrome
-
Soliman S.M. Low frequency sensorineural hearing loss: a syndrome. Audiology 1987, 26:332-338.
-
(1987)
Audiology
, vol.26
, pp. 332-338
-
-
Soliman, S.M.1
-
9
-
-
0029886187
-
Auditory neuropathy
-
Starr A., Picton T.W., Sininger Y., Hood L.J., Berlin C.I. Auditory neuropathy. Brain 1996, 119:741-753.
-
(1996)
Brain
, vol.119
, pp. 741-753
-
-
Starr, A.1
Picton, T.W.2
Sininger, Y.3
Hood, L.J.4
Berlin, C.I.5
-
10
-
-
67349211494
-
Prevalence of auditory neuropathy (AN) among infants and young children with severe to profound hearing loss
-
Talaat H.S., Kabel A.H., Samy H., Elbadry M. Prevalence of auditory neuropathy (AN) among infants and young children with severe to profound hearing loss. Int. J. Pediatr. Otorhinolaryngol. 2009, 73:937-939.
-
(2009)
Int. J. Pediatr. Otorhinolaryngol.
, vol.73
, pp. 937-939
-
-
Talaat, H.S.1
Kabel, A.H.2
Samy, H.3
Elbadry, M.4
-
11
-
-
78650973117
-
-
Assessment & management of auditory neuropathy/auditory dys-synchrony. NHSP AN/AD Protocol v1.1
-
G. Sutton, J. Gravel, L.J. Hood, G. Lightfoot, S. Mason, T. Sirimanna, et al., Assessment & management of auditory neuropathy/auditory dys-synchrony. NHSP AN/AD Protocol v1.1, 2008.
-
(2008)
-
-
Sutton, G.1
Gravel, J.2
Hood, L.J.3
Lightfoot, G.4
Mason, S.5
Sirimanna, T.6
-
12
-
-
0038278506
-
Auditory neuropathy physiologic and pathologic evidence calls for more diagnostic specificity
-
Rapin I., Gravel J. Auditory neuropathy physiologic and pathologic evidence calls for more diagnostic specificity. Int. J. Pediatr. Otorhinolaryngol. 2003, 67:707-728.
-
(2003)
Int. J. Pediatr. Otorhinolaryngol.
, vol.67
, pp. 707-728
-
-
Rapin, I.1
Gravel, J.2
-
13
-
-
67651236450
-
Evaluation of inner hair cell and nerve fiber loss as sufficiently pathologies underlying auditory neuropathy
-
El-Badry M.M., McFadden S.L. Evaluation of inner hair cell and nerve fiber loss as sufficiently pathologies underlying auditory neuropathy. Hear. Res. 2009, 255:84-90.
-
(2009)
Hear. Res.
, vol.255
, pp. 84-90
-
-
El-Badry, M.M.1
McFadden, S.L.2
-
14
-
-
0036714557
-
Clinical and audiological features of auditory neuropathy
-
Madden C., Rutter M., Hilbert L., Greinwald J., Choo D. Clinical and audiological features of auditory neuropathy. Arch. Otolaryngol. Head Neck Surg. 2002, 128:1026-1030.
-
(2002)
Arch. Otolaryngol. Head Neck Surg.
, vol.128
, pp. 1026-1030
-
-
Madden, C.1
Rutter, M.2
Hilbert, L.3
Greinwald, J.4
Choo, D.5
-
15
-
-
0347320596
-
Auditory neuropathy/auditory dys-synchrony in school children with hearing loss: frequency of occurrence
-
Tang T.P.Y., McPherson B., Yuen K.C.P., Wong L.L.N., Lee J.S.M. Auditory neuropathy/auditory dys-synchrony in school children with hearing loss: frequency of occurrence. Int. J. Pediatr. Otorhinolaryngol. 2004, 68:175-183.
-
(2004)
Int. J. Pediatr. Otorhinolaryngol.
, vol.68
, pp. 175-183
-
-
Tang, T.P.Y.1
McPherson, B.2
Yuen, K.C.P.3
Wong, L.L.N.4
Lee, J.S.M.5
-
16
-
-
33747245040
-
Auditory neuropathy/auditory dys-synchrony detected by universal newborn hearing screening
-
Ngo R.Y., Tan H.K., Balakrishnan A., Lim S.B., Lazaroo D. Auditory neuropathy/auditory dys-synchrony detected by universal newborn hearing screening. Int. J. Pediatr. Otorhinolaryngol. 2006, 70:1299-1306.
-
(2006)
Int. J. Pediatr. Otorhinolaryngol.
, vol.70
, pp. 1299-1306
-
-
Ngo, R.Y.1
Tan, H.K.2
Balakrishnan, A.3
Lim, S.B.4
Lazaroo, D.5
-
17
-
-
68149101145
-
Auditory neuropathy spectrum disorder: evaluation and management
-
Roush P. Auditory neuropathy spectrum disorder: evaluation and management. Hear. J. 2008, 61(11):36-41.
-
(2008)
Hear. J.
, vol.61
, Issue.11
, pp. 36-41
-
-
Roush, P.1
-
18
-
-
77950519874
-
Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: deafening fever!
-
Marlin S., Feldmann D., Nguyen Y., Rouillon I., Loundon N., Jonard L., et al. Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: deafening fever!. Biochem. Biophys. Res. Commun. 2010, 394:737-742.
-
(2010)
Biochem. Biophys. Res. Commun.
, vol.394
, pp. 737-742
-
-
Marlin, S.1
Feldmann, D.2
Nguyen, Y.3
Rouillon, I.4
Loundon, N.5
Jonard, L.6
-
19
-
-
0033003831
-
Clinical findings for a group of infants and young children with auditory neuropathy
-
Rance G., Beer D.E., Cone-Wesson B., Shepherd R.K., Dowell R.C., King A.M., et al. Clinical findings for a group of infants and young children with auditory neuropathy. Ear Hear. 1999, 20(3):238-252.
-
(1999)
Ear Hear.
, vol.20
, Issue.3
, pp. 238-252
-
-
Rance, G.1
Beer, D.E.2
Cone-Wesson, B.3
Shepherd, R.K.4
Dowell, R.C.5
King, A.M.6
-
20
-
-
0029827733
-
Safety awareness for the otolaryngologist caring for the HIV-positive patient
-
Kantu S., Lee D., Nash M., Lucente F.E. Safety awareness for the otolaryngologist caring for the HIV-positive patient. Laryngoscope 1996, 106(8):982-986.
-
(1996)
Laryngoscope
, vol.106
, Issue.8
, pp. 982-986
-
-
Kantu, S.1
Lee, D.2
Nash, M.3
Lucente, F.E.4
-
22
-
-
0028026559
-
Contralateral suppression of otoacoustic emissions: an index of the function of the medial oliovocochlear system
-
Berlin C.I., Hood L.J., Hurley A., Wen H. Contralateral suppression of otoacoustic emissions: an index of the function of the medial oliovocochlear system. Otolaryngol. Head Neck Surg. 1994, 110:3-21.
-
(1994)
Otolaryngol. Head Neck Surg.
, vol.110
, pp. 3-21
-
-
Berlin, C.I.1
Hood, L.J.2
Hurley, A.3
Wen, H.4
-
23
-
-
0027772413
-
Connexin mutations in X-linked Charcot-Marie-Tooth disease
-
Bergoffen J., Scherer S.S., Wang S., Scott M.O., Bone L.J., Paul D.L., et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 1993, 262(5142):2039-2042.
-
(1993)
Science
, vol.262
, Issue.5142
, pp. 2039-2042
-
-
Bergoffen, J.1
Scherer, S.S.2
Wang, S.3
Scott, M.O.4
Bone, L.J.5
Paul, D.L.6
-
24
-
-
0005088348
-
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness
-
Kovach M.J., Lin J., Boyadjiev S., Campbell K., Mazzeo L., Herman K., et al. A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am. J. Hum. Genet. 1999, 64:1580-1593.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 1580-1593
-
-
Kovach, M.J.1
Lin, J.2
Boyadjiev, S.3
Campbell, K.4
Mazzeo, L.5
Herman, K.6
-
25
-
-
0033910767
-
N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom
-
Kalaydjieva L., Gresham D., Gooding R., Heather L., Baas F., de Jonge R., et al. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am. J. Hum. Genet. 2000, 67:47-58.
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 47-58
-
-
Kalaydjieva, L.1
Gresham, D.2
Gooding, R.3
Heather, L.4
Baas, F.5
de Jonge, R.6
-
26
-
-
0038366696
-
Bilateral sudden sensorineural hearing loss caused by Charcot-Marie-Tooth disease
-
Papadakis C.E., Hajiioannou J.K., Kyrmizakis D.E., Bizakis J.G. Bilateral sudden sensorineural hearing loss caused by Charcot-Marie-Tooth disease. J. Laryngol. Otol. 2003, 117(5):399-401.
-
(2003)
J. Laryngol. Otol.
, vol.117
, Issue.5
, pp. 399-401
-
-
Papadakis, C.E.1
Hajiioannou, J.K.2
Kyrmizakis, D.E.3
Bizakis, J.G.4
-
27
-
-
0038157208
-
Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyr145→Ser)
-
Starr A., Michalewski K.J., Zeng F.G., Fujikawa-Brooks S., Linthicum F., Kim C., et al. Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyr145→Ser). Brain 2003, 126:1604-1619.
-
(2003)
Brain
, vol.126
, pp. 1604-1619
-
-
Starr, A.1
Michalewski, K.J.2
Zeng, F.G.3
Fujikawa-Brooks, S.4
Linthicum, F.5
Kim, C.6
-
28
-
-
0033005095
-
Hereditary auditory, vestibular, motor, and sensory neuropathy in a Slovenian Roma (Gypsy) kindred
-
Butinar D., Zidar J., Leonardis L., Popovic M., Kalaydjieva L., Angelicheva D., et al. Hereditary auditory, vestibular, motor, and sensory neuropathy in a Slovenian Roma (Gypsy) kindred. Ann. Neurol. 1999, 46(1):36-44.
-
(1999)
Ann. Neurol.
, vol.46
, Issue.1
, pp. 36-44
-
-
Butinar, D.1
Zidar, J.2
Leonardis, L.3
Popovic, M.4
Kalaydjieva, L.5
Angelicheva, D.6
-
29
-
-
37349068201
-
Auditory nerve is affected in one of two different point mutations of the neurofilament light gene
-
Butinar D, Starr A., Zidar J., Koutsou P., Christodoulou K. Auditory nerve is affected in one of two different point mutations of the neurofilament light gene. Clin. Neurophysiol. 2009, 119(2):367-375.
-
(2009)
Clin. Neurophysiol.
, vol.119
, Issue.2
, pp. 367-375
-
-
Butinar, D.1
Starr, A.2
Zidar, J.3
Koutsou, P.4
Christodoulou, K.5
-
30
-
-
1642482965
-
Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy
-
Ćeranić 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
-
-
Ćeranić, B.1
Luxon, L.M.2
-
31
-
-
28544431607
-
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness'
-
Amati-Bonneau P., Guichet A., Olichon A., Chevrollier A., Viala F., Miot S., et al. OPA1 R445H mutation in optic atrophy associated with sensorineural deafness'. Ann. Neurol. 2005, 58(6):958-963.
-
(2005)
Ann. Neurol.
, vol.58
, Issue.6
, pp. 958-963
-
-
Amati-Bonneau, P.1
Guichet, A.2
Olichon, A.3
Chevrollier, A.4
Viala, F.5
Miot, S.6
-
32
-
-
73949083946
-
Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals
-
Huang T., Santarelli R., Starr A. Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals. Brain Res. 2009, 1300:97-104.
-
(2009)
Brain Res.
, vol.1300
, pp. 97-104
-
-
Huang, T.1
Santarelli, R.2
Starr, A.3
-
33
-
-
77952100139
-
Vestibular dysfunction in a Japanese patient with a mutation in the gene OPA1
-
Mizutari K., Matsunaga T., Inoue Y., Kaneko H., Yagi H., Namba K., et al. Vestibular dysfunction in a Japanese patient with a mutation in the gene OPA1. J. Neurol. Sci. 2010, 293(1-2):23-28.
-
(2010)
J. Neurol. Sci.
, vol.293
, Issue.1-2
, pp. 23-28
-
-
Mizutari, K.1
Matsunaga, T.2
Inoue, Y.3
Kaneko, H.4
Yagi, H.5
Namba, K.6
-
34
-
-
77952300184
-
Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy
-
Meyer E., Michaelides M., Tee L.J., Robson A.G., Rahman F., Pasha S., et al. Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy. Mol. Vis. 2010, 16:650-664.
-
(2010)
Mol. Vis.
, vol.16
, pp. 650-664
-
-
Meyer, E.1
Michaelides, M.2
Tee, L.J.3
Robson, A.G.4
Rahman, F.5
Pasha, S.6
-
35
-
-
0018933647
-
Auditory dysfunction in Friedreich ataxia: result of spiral ganglion degeneration
-
Sathya-Murthi S., Cacace A., Hanson P. Auditory dysfunction in Friedreich ataxia: result of spiral ganglion degeneration. Neurology 1980, 30:1047-1053.
-
(1980)
Neurology
, vol.30
, pp. 1047-1053
-
-
Sathya-Murthi, S.1
Cacace, A.2
Hanson, P.3
-
36
-
-
0038329099
-
Auditory neuropathy in Friedreich Ataxia
-
Lopez-Diaz-de-Leon E., Silva-Rojas A., Ysuna A., Amavisca R., Rivera R. Auditory neuropathy in Friedreich Ataxia. Int. J. Pediatr. Otorhinolaryngol. 2003, 67:641-648.
-
(2003)
Int. J. Pediatr. Otorhinolaryngol.
, vol.67
, pp. 641-648
-
-
Lopez-Diaz-de-Leon, E.1
Silva-Rojas, A.2
Ysuna, A.3
Amavisca, R.4
Rivera, R.5
-
37
-
-
0034911692
-
Temporal bone histopathologic and genetic studies in Mohr-Tranebjaerg syndrome (DFN-1)
-
Merchant S.N., McKenna M.J., Nadol J.B., JrKristiansen A.G., Tropitzsch A., Lindal S., et al. Temporal bone histopathologic and genetic studies in Mohr-Tranebjaerg syndrome (DFN-1). Otol. Neurotol. 2001, 22:506-511.
-
(2001)
Otol. Neurotol.
, vol.22
, pp. 506-511
-
-
Merchant, S.N.1
McKenna, M.J.2
Nadol, J.B.3
JrKristiansen, A.G.4
Tropitzsch, A.5
Lindal, S.6
-
38
-
-
0038547078
-
Hearing loss in adult Refsum's disease
-
Bamiou D.E., Spraggs P.R., Gibberd F.B., Sidey M.C., Luxon L.M. Hearing loss in adult Refsum's disease. Clin. Otolaryngol. 2003, 28(3):227-230.
-
(2003)
Clin. Otolaryngol.
, vol.28
, Issue.3
, pp. 227-230
-
-
Bamiou, D.E.1
Spraggs, P.R.2
Gibberd, F.B.3
Sidey, M.C.4
Luxon, L.M.5
-
39
-
-
0035501696
-
The site of the hearing loss in Refsum's disease
-
Oysu C., Aslan I., Basaran B., Baserer N. The site of the hearing loss in Refsum's disease. Int. J. Pediatr. Otorhinolaryngol. 2001, 61(2):129-134.
-
(2001)
Int. J. Pediatr. Otorhinolaryngol.
, vol.61
, Issue.2
, pp. 129-134
-
-
Oysu, C.1
Aslan, I.2
Basaran, B.3
Baserer, N.4
-
40
-
-
0031052999
-
Auditory neuropathy: a report on three cases with early onset and major neonatal illnesses
-
Deltenre P., Mansbach A.L., Bozet C., Clerex A., Hecox K.E. Auditory neuropathy: a report on three cases with early onset and major neonatal illnesses. Electromyogr. Clin. Neurophysiol. 1997, 104:17-22.
-
(1997)
Electromyogr. Clin. Neurophysiol.
, vol.104
, pp. 17-22
-
-
Deltenre, P.1
Mansbach, A.L.2
Bozet, C.3
Clerex, A.4
Hecox, K.E.5
-
41
-
-
0033208737
-
Auditory neuropathy and mitochondrial disorder in a child: case study
-
Corley V.M., Crabbe I.S. Auditory neuropathy and 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, I.S.2
-
42
-
-
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(10):888-891.
-
(2006)
J. Laryngol. Otol.
, vol.120
, Issue.10
, pp. 888-891
-
-
Forli, F.1
Mancuso, M.2
Santoro, A.3
Dotti, M.T.4
Siciliano, G.5
Berrettini, S.6
-
43
-
-
0036672671
-
Identification of auditory neuropathy in infants and children
-
Sininger Y.S. Identification of auditory neuropathy in infants and children. Semin. Hear. 2002, 23:193-200.
-
(2002)
Semin. Hear.
, vol.23
, pp. 193-200
-
-
Sininger, Y.S.1
-
45
-
-
0001300009
-
The genetics of auditory neuropathy
-
Singular-Thomson Learning, San Diego, CA, Y. Sininger, A. Starr (Eds.)
-
Rogers R., Kimberling W.J., Starr A., Kirschhofer K., Cohn E., Kenyon J.B., et al. The genetics of auditory neuropathy. Auditory Neuropathy A New Perspectives on Hearing Disorders 2001, 165-182. Singular-Thomson Learning, San Diego, CA. Y. Sininger, A. Starr (Eds.).
-
(2001)
Auditory Neuropathy A New Perspectives on Hearing Disorders
, pp. 165-182
-
-
Rogers, R.1
Kimberling, W.J.2
Starr, A.3
Kirschhofer, K.4
Cohn, E.5
Kenyon, J.B.6
-
46
-
-
0037238597
-
Non-syndromic recessive auditory neuropathy is the result of mutation in the otoferlin (OTOF) gene
-
Varga R., Kelley P.M., Keats B.J., Starr A., Leal S.M., Cohn E., et al. Non-syndromic recessive auditory neuropathy is the result of mutation in the otoferlin (OTOF) gene. J. Med. Genet. 2003, 40:45-50.
-
(2003)
J. Med. Genet.
, vol.40
, pp. 45-50
-
-
Varga, R.1
Kelley, P.M.2
Keats, B.J.3
Starr, A.4
Leal, S.M.5
Cohn, E.6
-
47
-
-
0042384849
-
Familial auditory neuropathy
-
Wang Q., Gu R., Han D., Yang W. Familial auditory neuropathy. Laryngoscope 2003, 113:1623-1629.
-
(2003)
Laryngoscope
, vol.113
, pp. 1623-1629
-
-
Wang, Q.1
Gu, R.2
Han, D.3
Yang, W.4
-
48
-
-
8744288856
-
A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21
-
Kim T.B., Isaacson B., Sivakumaran T.A., Starr A., Keats B.J.B., Lesperance M.M. A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21. J. Med. Genet. 2004, 41:872-876.
-
(2004)
J. Med. Genet.
, vol.41
, pp. 872-876
-
-
Kim, T.B.1
Isaacson, B.2
Sivakumaran, T.A.3
Starr, A.4
Keats, B.J.B.5
Lesperance, M.M.6
-
49
-
-
0033037643
-
Clinical studies of families with hearing loss attributable to mutations in the connexion 26 gene (GJB2/DFNB1)
-
Cohn E.S., Kelley P.M., Fowler T.W., Gorga M.P., Lefkowitz D.M., Kuehn H.J., et al. Clinical studies of families with hearing loss attributable to mutations in the connexion 26 gene (GJB2/DFNB1). Pediatrics 1999, 103:546-550.
-
(1999)
Pediatrics
, vol.103
, pp. 546-550
-
-
Cohn, E.S.1
Kelley, P.M.2
Fowler, T.W.3
Gorga, M.P.4
Lefkowitz, D.M.5
Kuehn, H.J.6
-
50
-
-
13844264405
-
A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells
-
Starr A., Issaacson B., Michalewski H.J., Zeng H., Kong Y., Beale P., et al. A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells. J. Assoc. Res. Otolaryngol. 2004, 5:411-426.
-
(2004)
J. Assoc. Res. Otolaryngol.
, vol.5
, pp. 411-426
-
-
Starr, A.1
Issaacson, B.2
Michalewski, H.J.3
Zeng, H.4
Kong, Y.5
Beale, P.6
-
51
-
-
33847059933
-
Clinical and genetic features in a Chinese pedigree with autosomal dominant auditory neuropathy
-
Xing G., Cao X., Tian H., Chen H.Z., Li X., Wei Q., et al. Clinical and genetic features in a Chinese pedigree with autosomal dominant auditory neuropathy. ORL J. Otorhinolaryngol. Relat. Spec. 2007, 69(2):131-136.
-
(2007)
ORL J. Otorhinolaryngol. Relat. Spec.
, vol.69
, Issue.2
, pp. 131-136
-
-
Xing, G.1
Cao, X.2
Tian, H.3
Chen, H.Z.4
Li, X.5
Wei, Q.6
-
52
-
-
78650985076
-
Trends in genetic research in auditory neuropathy
-
Springer, Hong Kong, K. Kaga, A. Starr (Eds.)
-
Matsunga T. Trends in genetic research in auditory neuropathy. Neuropathies of the Auditory and Vestibular Eighth Cranial Nerves 2009, 43-51. Springer, Hong Kong. K. Kaga, A. Starr (Eds.).
-
(2009)
Neuropathies of the Auditory and Vestibular Eighth Cranial Nerves
, pp. 43-51
-
-
Matsunga, T.1
-
53
-
-
66849097992
-
Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1)
-
Grati F.R., Lesperance M.M., Toffol S.D., Chinetti S., Selicorni A., Emery S., et al. Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1). Am. J. Med. Genet. 2009, 149A(5):906-913.
-
(2009)
Am. J. Med. Genet.
, vol.149
, Issue.5
, pp. 906-913
-
-
Grati, F.R.1
Lesperance, M.M.2
Toffol, S.D.3
Chinetti, S.4
Selicorni, A.5
Emery, S.6
-
54
-
-
33745907313
-
OTOF mutation revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele
-
Varga R., Avenarius M.R., Kelly P.M., Keats B.J., Berlin C.I., Hood L.J., et al. OTOF mutation revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. J. Med. Genet. 2006, 43:576-581.
-
(2006)
J. Med. Genet.
, vol.43
, pp. 576-581
-
-
Varga, R.1
Avenarius, M.R.2
Kelly, P.M.3
Keats, B.J.4
Berlin, C.I.5
Hood, L.J.6
-
55
-
-
44849114793
-
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy
-
Rodríguez-Ballesteros M., Reynoso R., Olarte M., Villamar M., Morera C., Santarelli R., et al. A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. Hum. Mutat. 2008, 29(6):823-831.
-
(2008)
Hum. Mutat.
, vol.29
, Issue.6
, pp. 823-831
-
-
Rodríguez-Ballesteros, M.1
Reynoso, R.2
Olarte, M.3
Villamar, M.4
Morera, C.5
Santarelli, R.6
-
56
-
-
33749994043
-
Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse
-
Roux I., Safieddine S., Nouvian R., Grati M., Simmler M.C., Bahloul A., et al. Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. Cell 2006, 127:277-289.
-
(2006)
Cell
, vol.127
, pp. 277-289
-
-
Roux, I.1
Safieddine, S.2
Nouvian, R.3
Grati, M.4
Simmler, M.C.5
Bahloul, A.6
-
58
-
-
0036071451
-
Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss
-
Migliosi V., Modamio-Hoybjor S., Moreno-Pelayo M.A., Rodriguez-Ballesteros M., Villamar M., Telleria D., et al. Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss. J. Med. Genet. 2002, 39:502-506.
-
(2002)
J. Med. Genet.
, vol.39
, pp. 502-506
-
-
Migliosi, V.1
Modamio-Hoybjor, S.2
Moreno-Pelayo, M.A.3
Rodriguez-Ballesteros, M.4
Villamar, M.5
Telleria, D.6
-
59
-
-
10744230174
-
Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF)
-
Rodríguez-Ballesteros M., del Castillo F.J., Martin Y., Moreno-Pelayo M.A., Morera C., Prieto F., et al. Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF). Hum. Mutat. 2003, 22:451-456.
-
(2003)
Hum. Mutat.
, vol.22
, pp. 451-456
-
-
Rodríguez-Ballesteros, M.1
del Castillo, F.J.2
Martin, Y.3
Moreno-Pelayo, M.A.4
Morera, C.5
Prieto, F.6
-
60
-
-
24344458436
-
A novel missense mutation in a C2 domain of OTOF result in autosomal recessive auditory neuropathy
-
Tekin M., Akcayoz D., Incesulu A. A novel missense mutation in a C2 domain of OTOF result in autosomal recessive auditory neuropathy. Am. J. Med. Genet. 2005, 138A:6-10.
-
(2005)
Am. J. Med. Genet.
, vol.138
, pp. 6-10
-
-
Tekin, M.1
Akcayoz, D.2
Incesulu, A.3
-
61
-
-
68449091256
-
Novel OTOF mutations in Brazilian patients with auditory neuropathy
-
Romanos J., Kimura L., Fávero M.L., Izarra F.A., de Mello Auricchio M.T., Batissoco A.C., et al. Novel OTOF mutations in Brazilian patients with auditory neuropathy. J. Hum. Genet. 2009, 54(7):382-385.
-
(2009)
J. Hum. Genet.
, vol.54
, Issue.7
, pp. 382-385
-
-
Romanos, J.1
Kimura, L.2
Fávero, M.L.3
Izarra, F.A.4
de Mello Auricchio, M.T.5
Batissoco, A.C.6
-
62
-
-
0344431253
-
Transient deafness due to temperature-sensitive auditory neuropathy
-
Starr A., Sininger Y., Winter M., Derebery M.J., Oba S., Michalewski H.J. Transient deafness due to temperature-sensitive auditory neuropathy. Ear Hear. 1998, 19(3):169-179.
-
(1998)
Ear Hear.
, vol.19
, Issue.3
, pp. 169-179
-
-
Starr, A.1
Sininger, Y.2
Winter, M.3
Derebery, M.J.4
Oba, S.5
Michalewski, H.J.6
-
63
-
-
77956604915
-
Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy
-
Chiu Y.H., Wu C.C., Lu Y.C., Chen P.J., Lee W.Y., Liu A., et al. Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy. Audiol. Neurootol. 2010, 15(6):364-374.
-
(2010)
Audiol. Neurootol.
, vol.15
, Issue.6
, pp. 364-374
-
-
Chiu, Y.H.1
Wu, C.C.2
Lu, Y.C.3
Chen, P.J.4
Lee, W.Y.5
Liu, A.6
-
64
-
-
33745577619
-
Mutation in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, causes DFNB59 auditory neuropathy
-
Delmaghani S., Del Castillo F.J., Michel V., Leibovici M., Aghaie A., Ron U., et al. Mutation in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, causes DFNB59 auditory neuropathy. Nat. Genet. 2006, 38(7):770-778.
-
(2006)
Nat. Genet.
, vol.38
, Issue.7
, pp. 770-778
-
-
Delmaghani, S.1
Del Castillo, F.J.2
Michel, V.3
Leibovici, M.4
Aghaie, A.5
Ron, U.6
-
65
-
-
0043281578
-
The role of connexins in human disease
-
Chang E.H., Camp G.V., Smith R.H.J. The role of connexins in human disease. Ear Hear. 2003, 24(4):314-322.
-
(2003)
Ear Hear.
, vol.24
, Issue.4
, pp. 314-322
-
-
Chang, E.H.1
Camp, G.V.2
Smith, R.H.J.3
-
66
-
-
27444432156
-
Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf
-
Cheng X., Li L., Brashears S., Morlet T., Ng S.S., Berlin C.I., et al. Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf. Am. J. Med. Genet. 2005, 139(1):13-18.
-
(2005)
Am. J. Med. Genet.
, vol.139
, Issue.1
, pp. 13-18
-
-
Cheng, X.1
Li, L.2
Brashears, S.3
Morlet, T.4
Ng, S.S.5
Berlin, C.I.6
-
67
-
-
36348984404
-
Audiological and electrocochleography findings in hearing-impaired children with connexin 26 mutations and otoscoustic emissions
-
Santarelli R., Cama E., Scimemi P., Monte E.D., Genovese E., Arslan E. Audiological and electrocochleography findings in hearing-impaired children with connexin 26 mutations and otoscoustic emissions. Eur. Arch. Otorhinolaryngol. 2008, 265(1):43-51.
-
(2008)
Eur. Arch. Otorhinolaryngol.
, vol.265
, Issue.1
, pp. 43-51
-
-
Santarelli, R.1
Cama, E.2
Scimemi, P.3
Monte, E.D.4
Genovese, E.5
Arslan, E.6
-
68
-
-
33746852566
-
AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3
-
Wang Q., Li Q.Z., Rao S.Q., Lee H., Huang X.S., Yang W.Y., et al. AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3. J. Med. Genet. 2006, 43(7):e33.
-
(2006)
J. Med. Genet.
, vol.43
, Issue.7
-
-
Wang, Q.1
Li, Q.Z.2
Rao, S.Q.3
Lee, H.4
Huang, X.S.5
Yang, W.Y.6
-
69
-
-
0033768121
-
A novel mitochondrial 12SrRNA point mutation in Parkinsonism, deafness, and neuropathy
-
Thyagarajan D, Bressman S., Bruno C., Przedborski S., Shanske S., Lynch T., et al. A novel mitochondrial 12SrRNA point mutation in Parkinsonism, deafness, and neuropathy. Ann. Neurol. 2000, 48:730-736.
-
(2000)
Ann. Neurol.
, vol.48
, pp. 730-736
-
-
Thyagarajan, D.1
Bressman, S.2
Bruno, C.3
Przedborski, S.4
Shanske, S.5
Lynch, T.6
-
70
-
-
19944430235
-
Clinical and molecular characteristics of patient with auditory neuropathy associated with mitochondrial 12S eRNA T1095C mutation
-
Wang Q., Roughan L., Zhao H., Peters J.L., Liu Q., Yang L., et al. Clinical and molecular characteristics of patient with auditory neuropathy associated with mitochondrial 12S eRNA T1095C mutation. Am. J. Med. Genet. 2005, 133A:27-30.
-
(2005)
Am. J. Med. Genet.
, vol.133
, pp. 27-30
-
-
Wang, Q.1
Roughan, L.2
Zhao, H.3
Peters, J.L.4
Liu, Q.5
Yang, L.6
-
71
-
-
34347348330
-
Otopathology in Mohr-Tranebjaerg syndrome
-
Bahmad F., Merchant S.N., Nadol J.B., Tranebjaerg L. Otopathology in Mohr-Tranebjaerg syndrome. Laryngoscope 2007, 117:1202-1208.
-
(2007)
Laryngoscope
, vol.117
, pp. 1202-1208
-
-
Bahmad, F.1
Merchant, S.N.2
Nadol, J.B.3
Tranebjaerg, L.4
|