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Select item 109561851.

Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis

L. Johansen, F. O’Hare, E. R. Shepard, L. N. Ayton, L. J. Pelentsov, L. S. Kearns, K. L. Galvin

Orphanet J Rare Dis. 2024; 19: 129. Published online 2024 Mar 21. doi: 10.1186/s13023-024-03125-w

Correction in:: Orphanet J Rare Dis. 2024; 19: 163.

PMCID:: PMC10956185

Article PDF–1.4M

Select item 108580752.

Outcomes of cochlear implantation in Usher syndrome: a systematic review

Hannah Louisa Cornwall, Chon Meng Lam, Daoud Chaudhry, Jameel Muzaffar, Peter Monksfield, Manohar L. Bance

Eur Arch Otorhinolaryngol. 2024; 281(3): 1115–1129. Published online 2023 Nov 6. doi: 10.1007/s00405-023-08304-2

PMCID:: PMC10858075

Article PDF–815K

Select item 107489513.

Identification of a novel compound heterozygous pathogenic variant in MYO7A causing Usher syndrome type IB in a Chinese patient: a case report

Ya’nan Zhang, Xinyi Guo, Ling Hao, Meihui Tian, Yuan Ma, Yong Tang

J Int Med Res. 2023 Dec; 51(12): 03000605231218924. Published online 2023 Dec 23. doi: 10.1177/03000605231218924

PMCID:: PMC10748951

Article PDF–1.1M

Select item 107408094.

Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders

Paola Tesolin, Aurora Santin, Anna Morgan, Stefania Lenarduzzi, Elisa Rubinato, Giorgia Girotto, Beatrice Spedicati

Audiol Res. 2023 Dec; 13(6): 989–995. Published online 2023 Dec 11. doi: 10.3390/audiolres13060086

PMCID:: PMC10740809

Article PDF–630K

Select item 106806735.

PCDH15 Dual-AAV Gene Therapy for Deafness and Blindness in Usher Syndrome Type 1F

Maryna V. Ivanchenko, Daniel M. Hathaway, Eric M. Mulhall, Kevin T. Booth, Mantian Wang, Cole W. Peters, Alex J. Klein, Xinlan Chen, Yaqiao Li, Bence György, David P. Corey

Version 1. bioRxiv. Preprint. 2023 Nov 13. doi: 10.1101/2023.11.09.566447

PMCID:: PMC10680673

Article

Select item 106390306.

A Recalcitrant Case of Senear-Usher Syndrome Treated With Rituximab

Jonathan M de Vries, Patricia Moody, Avaneesh Ojha, Alison Grise, Naveed Sami

Cureus. 2023 Oct; 15(10): e46910. Published online 2023 Oct 12. doi: 10.7759/cureus.46910

PMCID:: PMC10639030

Article PDF–699K

Select item 106041197.

Combined Presence in Heterozygosis of Two Variant Usher Syndrome Genes in Two Siblings Affected by Isolated Profound Age-Related Hearing Loss

Nica Borgese, Andrés Guillén-Samander, Sara Francesca Colombo, Giulia Mancassola, Federica Di Berardino, Diego Zanetti, Paola Carrera

Biomedicines. 2023 Oct; 11(10): 2657. Published online 2023 Sep 28. doi: 10.3390/biomedicines11102657

PMCID:: PMC10604119

Article PDF–2.9M

Select item 105133488.

Clinical Presentation of Usher Syndrome Type 1B (USH1B) in a 10-Month-Old: A Case Report

Meghan J Filson, Dakota C Davis, Claire Yother

Cureus. 2023 Aug; 15(8): e43934. Published online 2023 Aug 22. doi: 10.7759/cureus.43934

PMCID:: PMC10513348

Article PDF–106K

Select item 104918039.

Dual-AAV vector-mediated expression of MYO7A improves vestibular function in a mouse model of Usher syndrome 1B

Samantha C. Lau, Mhamed Grati, Kevin Isgrig, Moaz Sinan, Kaitlyn R. Calabro, Jianliang Zhu, Yasuko Ishibashi, Zeynep Ozgur, Talah Wafa, Inna A. Belyantseva, Tracy Fitzgerald, Thomas B. Friedman, Sanford L. Boye, Shannon E. Boye, Wade W. Chien

Mol Ther Methods Clin Dev. 2023 Sep 14; 30: 534–545. Published online 2023 Aug 21. doi: 10.1016/j.omtm.2023.08.012

PMCID:: PMC10491803

Article PDF–3.2M

Select item 1046596610.

USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids

Carla Sanjurjo-Soriano, Carla Jimenez-Medina, Nejla Erkilic, Luisina Cappellino, Arnaud Lefevre, Kerstin Nagel-Wolfrum, Uwe Wolfrum, Erwin Van Wijk, Anne-Françoise Roux, Isabelle Meunier, Vasiliki Kalatzis

HGG Adv. 2023 Oct 12; 4(4): 100229. Published online 2023 Aug 7. doi: 10.1016/j.xhgg.2023.100229

PMCID:: PMC10465966

Article PDF–6.9M

Select item 1036292511.

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review

Kirk A. J. Stephenson, Laura Whelan, Julia Zhu, Adrian Dockery, Niamh C. Wynne, Rebecca M. Cairns, Claire Kirk, Jacqueline Turner, Emma S. Duignan, James J. O'Byrne, Giuliana Silvestri, Paul F. Kenna, G. Jane Farrar, David J. Keegan

Invest Ophthalmol Vis Sci. 2023 Jul; 64(10): 23. Published online 2023 Jul 19. doi: 10.1167/iovs.64.10.23

PMCID:: PMC10362925

Article PDF–794K

Select item 1035158512.

Awareness of Usher Syndrome and the Need for Multidisciplinary Care: A Cross-Occupational Survey of Allied Health Clinicians

Lauren N Ayton, Karyn L Galvin, Lauren Johansen, Fleur O’Hare, Emily R Shepard

J Multidiscip Healthc. 2023; 16: 1927–1936. Published online 2023 Jul 13. doi: 10.2147/JMDH.S411306

PMCID:: PMC10351585

Article PDF–1017K

Select item 1032344113.

Usher syndrome proteins ADGRV1 (USH2C) and CIB2 (USH1J) interact and share a common interactome containing TRiC/CCT-BBS chaperonins

Joshua Linnert, Barbara Knapp, Baran E. Güler, Karsten Boldt, Marius Ueffing, Uwe Wolfrum

Front Cell Dev Biol. 2023; 11: 1199069. Published online 2023 Jun 22. doi: 10.3389/fcell.2023.1199069

PMCID:: PMC10323441

Article PDF–3.4M

Select item 1027249714.

Evaluation of Sleep Quality and Fatigue in Patients with Usher Syndrome Type 2a

Jessie M. Hendricks, Juriaan R. Metz, Hedwig M. Velde, Jack Weeda, Franca Hartgers, Suzanne Yzer, Carel B. Hoyng, Ronald J.E. Pennings, Rob W.J. Collin, Myrthe H.M. Boss, Erik de Vrieze, Erwin van Wijk

Ophthalmol Sci. 2023 Dec; 3(4): 100323. Published online 2023 May 5. doi: 10.1016/j.xops.2023.100323

PMCID:: PMC10272497

Article PDF–1.1M

Select item 1019161615.

Retinitis Pigmentosa Sine Pigmento in a Carrier of Usher Syndrome

Sofía C Ayala Rodríguez, Estefania Ramirez Marquez, Andrea Robles Bocanegra, Natalio Izquierdo, Armando L Oliver

Cureus. 2023 Apr; 15(4): e37719. Published online 2023 Apr 17. doi: 10.7759/cureus.37719

PMCID:: PMC10191616

Article PDF–132K

Select item 1014647316.

A Review of CRISPR Tools for Treating Usher Syndrome: Applicability, Safety, Efficiency, and In Vivo Delivery

Lauren Major, Michelle E. McClements, Robert E. MacLaren

Int J Mol Sci. 2023 Apr; 24(8): 7603. Published online 2023 Apr 20. doi: 10.3390/ijms24087603

PMCID:: PMC10146473

Article PDF–5.2M

Select item 1013339617.

Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F

Maryna V. Ivanchenko, Daniel M. Hathaway, Alex J. Klein, Bifeng Pan, Olga Strelkova, Pedro De-la-Torre, Xudong Wu, Cole W. Peters, Eric M. Mulhall, Kevin T. Booth, Corey Goldstein, Joseph Brower, Marcos Sotomayor, Artur A. Indzhykulian, David P. Corey

Nat Commun. 2023; 14: 2400. Published online 2023 Apr 26. doi: 10.1038/s41467-023-38038-y

PMCID:: PMC10133396

Article PDF–7.2M

Select item 1004835718.

Natural Disease Course in Usher Syndrome Patients Harboring USH2A Variant p.Cys870* in Exon 13, Amenable to Exon Skipping Therapy

Katja Čadonič, Jana Sajovic, Marko Hawlina, Ana Fakin

Genes (Basel) 2023 Mar; 14(3): 652. Published online 2023 Mar 5. doi: 10.3390/genes14030652

PMCID:: PMC10048357

Article PDF–3.9M

Select item 999638019.

Efficacy, pharmacokinetics, and safety in the mouse and primate retina of dual AAV vectors for Usher syndrome type 1B

Rita Ferla, Fabio Dell’Aquila, Monica Doria, Maria Ferraiuolo, Alessia Noto, Fabiana Grazioli, Virginia Ammendola, Francesco Testa, Paolo Melillo, Carolina Iodice, Giulia Risca, Novella Tedesco, Pierre Romain le Brun, Enrico Maria Surace, Francesca Simonelli, Stefania Galimberti, Maria Grazia Valsecchi, Jean-Brice Marteau, Philippe Veron, Stefano Colloca, Alberto Auricchio

Mol Ther Methods Clin Dev. 2023 Mar 9; 28: 396–411. Published online 2023 Feb 11. doi: 10.1016/j.omtm.2023.02.002

PMCID:: PMC9996380

Article PDF–3.6M

Select item 994473720.

The Usher syndrome 1C protein harmonin regulates canonical Wnt signaling

Jessica Schäfer, Nicole Wenck, Katharina Janik, Joshua Linnert, Katarina Stingl, Susanne Kohl, Kerstin Nagel-Wolfrum, Uwe Wolfrum

Front Cell Dev Biol. 2023; 11: 1130058. Published online 2023 Feb 8. doi: 10.3389/fcell.2023.1130058

PMCID:: PMC9944737

Article PDF–3.5M

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