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Audiological Medicine Volume 9, 2011 - Issue 2
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Original Article

Presynaptic and postsynaptic mechanisms underlying auditory neuropathy in patients with mutations in the OTOF or OPA1 gene

Rosamaria Santarelli Department of Medical and Surgical Specialities, Service of Audiology and Phoniatrics, University of Padova, Padua, ItalyCorrespondence[email protected]
,
Arnold Starr Department of Neurology, University of California, Irvine, California, USA
,
Ignacio del Castillo Unidad de Genética Molecular, Hospital Ramón y Cajal, Carretera de Colmenar, Madrid, Spain
,
Taosheng Huang Department of Pediatrics, Division of Human Genetics, University of California, Irvine, California, USA
,
Pietro Scimemi Department of Medical and Surgical Specialities, Service of Audiology and Phoniatrics, University of Padova, Padua, Italy
,
Elona Cama Department of Medical and Surgical Specialities, Service of Audiology and Phoniatrics, University of Padova, Padua, Italy
,
Roberta Rossi Department of Medical and Surgical Specialities, Service of Audiology and Phoniatrics, University of Padova, Padua, Italy
&
Edoardo Arslan Department of Medical and Surgical Specialities, Service of Audiology and Phoniatrics, University of Padova, Padua, Italy
 show all
Pages 59-66 | Accepted 25 Jan 2011, Published online: 01 Mar 2011

Citations (10)

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Alessandro Castiglione, Micol Busi & Alessandro Martini. (2013) Syndromic hearing loss: An update. Hearing, Balance and Communication 11:3, pages 146-159.
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Articles from other publishers (9)

Charles L. Ford, William J. Riggs, Tera Quigley, Orion P. KeiferJr.Jr., Jonathon P. Whitton & Vassili Valayannopoulos. (2023) The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review. Human Genetics 142:10, pages 1429-1449.
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Lianhua Sun, Zhengyu Lin, Jifang Zhang, Jiali Shen, Xiaowen Wang & Jun Yang. (2022) Genetic etiological analysis of auditory neuropathy spectrum disorder by next-generation sequencing. Frontiers in Neurology 13.
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Désirée Ehrmann-Müller, Daniela Back, Heike Kühn, Rudolf Hagen & Wafaa Shehata-Dieler. (2020) Long-term treatment outcomes in children with auditory neuropathy spectrum disorder (ANSD). International Journal of Pediatric Otorhinolaryngology 132, pages 109938.
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Désirée Ehrmann-Müller, Mario Cebulla, Kristen Rak, Matthias Scheich, Daniela Back, Rudolf Hagen & Wafaa Shehata-Dieler. (2019) Evaluation and therapy outcome in children with auditory neuropathy spectrum disorder (ANSD). International Journal of Pediatric Otorhinolaryngology 127, pages 109681.
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Jos J. Eggermont. 2019. Clinical Neurophysiology: Basis and Technical Aspects. Clinical Neurophysiology: Basis and Technical Aspects 437 449 .
Kyu-Hee Han, Doo-Yi Oh, Seungmin Lee, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Moo Kyun Park, Nayoung K. D. Kim, Jaekwang Lee, Eunyoung Yi, Jong-Min Kim, Jeong-Whun Kim, Jong-Hee Chae, Seung Ha Oh, Woong-Yang Park & Byung Yoon Choi. (2017) ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy. Scientific Reports 7:1.
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Jos J. Eggermont. 2017. Hearing Loss. Hearing Loss 129 173 .
Gary Rance & Arnold Starr. (2015) Pathophysiological mechanisms and functional hearing consequences of auditory neuropathy. Brain 138:11, pages 3141-3158.
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Rosamaria Santarelli & Edoardo Arslan. 2013. Disorders of Peripheral and Central Auditory Processing. Disorders of Peripheral and Central Auditory Processing 83 113 .

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