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Clinical and genetic architecture of a large cohort with auditory neuropathy.

• Authors : Wang H; Senior Department of Otolaryngology Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, The Sixth Medical Center of Chinese PLA General Hospital, Medical School of Chinese PLA, 28 Fuxing Road, Beijing, 100853, People's Republic of China.; National Clinical Research Center for Otolaryngologic Diseases, Beijing, 100853, People's Republic of China.

Subjects: Hearing Loss, Central*/Hearing Loss, Central*/Hearing Loss, Central*/genetics ; Mutation*; Humans Auditory neuropathy

• Source: Human genetics [Hum Genet] 2024 Mar; Vol. 143 (3), pp. 293-309. Date of Electronic Publication: 2024 Mar 08.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.

• Authors : Thorpe, Ryan K.; Azaiez, Hela; Wu, Peina

• Source: Human Genetics. April, 2022, Vol. 141 Issue 3-4, p853, 11 p.

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The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review.

• Authors : Ford, Charles L.¹ (AUTHOR); Riggs, William J.¹ (AUTHOR); Quigley, Tera¹ (AUTHOR)

Subjects: *HEARING disorders; *AUDITORY neuropathy; *AUDIOMETRY

• Source: Human Genetics. Oct2023, Vol. 142 Issue 10, p1429-1449. 21p.

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The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.

• Authors : Tranebjærg, Lisbeth; Strenzke, Nicola; Lindholm, Sture

• Source: Human Genetics. February, 2018, Vol. 137 Issue 2, p111, 17 p.

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Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin.

• Authors : Tang, Honghai^1,2,3 (AUTHOR); Wang, Hui^1,2,3 (AUTHOR); Wang, Shengyi^1,2,3 (AUTHOR)

Subjects: *AUDITORY neuropathy; *SYNAPTIC vesicles; *COCHLEAR implants

• Source: Human Genetics. Feb2023, Vol. 142 Issue 2, p289-304. 16p.

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The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.

• Authors : Tranebjærg, Lisbeth; Strenzke, Nicola; Lindholm, Sture

Subjects: AUDITORY neuropathy; CEREBELLAR ataxia; MISSENSE mutation

• Source: Human Genetics; Feb2018, Vol. 137 Issue 2, p111-127, 17p

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Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan.

• Authors : Iwasa, Yoh-ichiro¹ (AUTHOR); Nishio, Shin-ya² (AUTHOR); Yoshimura, Hidekane¹ (AUTHOR)

Subjects: *COCHLEAR implants; *AUDITORY neuropathy; *HEARING disordersJAPAN

• Source: Human Genetics. Apr2022, Vol. 141 Issue 3/4, p865-875. 11p.

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Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.

• Authors : Tranebjærg L; Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Rigshospitalet/Bispebjerg, Copenhagen, Denmark. .; Department of Clinical Genetics, The Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark. .

• Source: Human genetics [Hum Genet] 2018 Mar; Vol. 137 (3), pp. 279-280.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Internet ISSN: 1432-1203

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Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss.

• Authors : Batissoco, Ana Carla; Pedroso-Campos, Vinicius; Pardono, Eliete

Subjects: HEARING disorders; GENETIC testing; MEDICAL screening

• Source: Human Genetics; Apr2022, Vol. 141 Issue 3/4, p519-538, 20p

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Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.

• Authors : Tranebjærg, Lisbeth; Strenzke, Nicola; Lindholm, Sture

Subjects: GENETIC mutation; ADENOSINE triphosphatase; AUDITORY neuropathy

• Source: Human Genetics; Mar2018, Vol. 137 Issue 3, p279-280, 2p

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