Results 121 to 130 of about 71,569 (397)

A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hereditary nonsyndromic hearing loss (NSHL) is a prevalent entity associated with over 150 known causative genes, including LMX1A, which has fewer than 10 reported pathogenic variants. Here we present a novel missense variant in LMX1A in a family of European descent with hereditary hearing loss. Clinical and family histories were obtained, and
Ryan Chen, Dayna Morel Swols, Guney Bademci, Mustafa Tekin   +3 more
wiley   +1 more source

Subsequent Report on a Case of Infiltration of the Vestibule of the Larynx with Intralaryngeal Fungation [PDF]

, 1909
J. Dundas Grant
openalex   +1 more source

The Environment Shapes the Inner Vestibule of LeuT

PLoS Comput. Biol., 2016
Human neurotransmitter transporters are found in the nervous system terminating synaptic signals by rapid removal of neurotransmitter molecules from the synaptic cleft.
Azmat Sohail, Kumaresan Jayaraman, S. Venkatesan, Kamil Gotfryd, Markus Daerr, U. Gether, C. Loland, K. Wanner, M. Freissmuth, H. Sitte, W. Sandtner, T. Stockner   +11 more
semanticscholar   +1 more source

‘People Need to Understand That They Are Stealing From Their Neighbours’: A Critical Media Analysis of the Representations and Resistance Throughout the Robodebt Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Robodebt scheme issued thousand‐dollar debts to an estimated half a million people who had received social security. The debts were largely inaccurate and illegal, with the aim of improving the federal government's budget. The 2023 Royal Commission into the Robodebt Scheme found that the stigmatising political and public language about ...
Ella Kruger, Phillipa Evans
wiley   +1 more source

Stochastic characterization of navigation strategies in an automated variant of the Barnes maze

eLife
Animals can use a repertoire of strategies to navigate in an environment, and it remains an intriguing question how these strategies are selected based on the nature and familiarity of environments.
Ju-Young Lee, Dahee Jung, Sebastien Royer   +2 more
doaj   +1 more source

Dissociated responses to caloric and head impulse stimulation in a case of isolated vestibule-lateral semicircular canal dysplasia

Acta Oto-Laryngologica Case Reports, 2018
Isolated vestibule-lateral semicircular canal dysplasia (LSCCD) is one of the most common inner ear malformations. We present a case of a 59-year-old patient with right vestibule-lateral canal dysplasia and a history of spontaneous vertigo spells without
Ricardo Wegmann-Vicuña, Octavio Garaycochea, Pablo Domínguez-Echavarri, Carlos Guajardo-Vergara, Reyes García-Eulate, Nicolás Pérez-Fernández   +5 more
doaj   +1 more source

The nasal vestibule as the seat of disease maximilian bresgen‐bresgen's sammlung january 15, 1900 [PDF]

, 1900
Vittum
openalex   +1 more source

Electrical Stimulation of Trigeminal Nerve at the Anterior Nasal Septum in Healthy Individuals and Patients With Olfactory Dysfunction

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The intranasal trigeminal system contributes to the sense of smell. Its integrity in olfactory dysfunction (OD) may be crucial for future treatments. This study assessed trigeminal sensitivity in healthy individuals and patients with OD of different etiologies using electrical stimulation of the nasal mucosa.
Konstantinos Garefis, Susanne Weise, Pauline Hanslik, Coralie Mignot, Halina B. Stanley, Maxime Fieux, Camille Ferdenzi, Evangelia Tsakiropoulou, Clémentine Lipp, Arnaud Bertsch, Moustafa Bensafi, Iordanis Konstantinidis, Thomas Hummel   +12 more
wiley   +1 more source

THE FUNCTION OF THE END-ORGANS IN THE VESTIBULE AND SEMICIRCULAR CANALS [PDF]

, 1909
George E. Shambaugh
openalex   +1 more source

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism

Annals of Neurology, EarlyView.
Objective Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating variants in the autophagy gene EPG5 have been associated with Vici syndrome, a severe early‐onset neurodevelopmental
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Ay Lin Kho, Neil J Ingham, Karen P Steel, Preethi Sheshadri, Franciska Baur, Lea Hentrich, Birgit Gerisch, Mina Zamani, Cesar Alves, Ata Siddiqui, Haidar S Dafsari, Mehri Salari, Anthony E. Lang, Michael Harris, Alice Abdelaleem, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Gholamreza Shariati, Alireza Sedaghat, Jawaher Zeighami, Daniel Calame, Dana Marafi, Ruizhi Duan, Adrian Boehnke, Gary D. Clark, Jill A. Rosenfeld, Carrie A. Mohila, Dora Steel, Saurabh Chopra, Suvasini Sharma, Nicolai Kohlschmidt, Steffi Patzer, Afshin Saffari, Darius Ebrahimi‐Fakhari, Büşra Eser Çavdartepe, Irene J Chang, Erika Beckman, Renate Peters, Andrew Paul Fennell, Bernice Lo, Luisa Averdunk, Felix Distelmaier, Martina Baethmann, Frances Elmslie, Kairit Joost, Sheela Nampoothiri, Dhanya Yesodharan, Hanna Mandel, Amy Kimball, Antonie D. Kline, Cyril Mignot, Boris Keren, Vincent Laugel, Katrin Õunap, Kalpana Devadathan, Frederique M.C. van Berkestijn, Arpana Silwal, Saskia Koene, Sumit Verma, Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz, Gehad ElGhazali, Lauren Mattas, Mohammad Miryounesi, Farzad Hashemi‐Gorji, Shahryar Alavi, Nayereh Nouri, Mehrdad Noruzinia, Saeideh Kavousi, Arveen Kamath, Sandeep Jayawant, Russell Saneto, Nourelhoda A. Haridy, Pinar Ozkan Kart, Ali Cansu, Madeleine Joubert, Claire Beneteau, Kyra E. Stuurman, Martina Wilke, Tahsin Stefan Barakat, Homa Tajsharghi, Annarita Scardamaglia, Sadeq Vallian, Semra Hız, Ali Shoeibi, Reza Boostani, Narges Hashemi, Meisam Babaei, Norah Saleh Alsaleh, Julie Porter, Tania Attié‐Bitach, Pauline Marzin, Dorota Wicher, Jessica I. Gold, Elisabeth Schuler, Amna Kashgari, Rakan F. Alanazi, Wafaa Eyaid, Marc Engelen, Mirjam Langeveld, Burkhard Stüve, Yun Li, Gökhan Yigit, Bernd Wollnik, Mariana H.G Monje, Dimitri Krainc, Niccolò E. Mencacci, Somayeh Bakhtiari, Michael Kruer, Emanuela Argilli, Elliott Sherr, Yalda Jamshidi, Ehsan Ghayoor Karimiani, Yiu Wing Sunny Cheung, Ivan Karin, Giovanni Zifarelli, Peter Bauer, Wendy K Chung, James R. Lupski, Manju A. Kurian, Jörg Dötsch, Jürgen‐Christoph von Kleist‐Retzow, Thomas Klopstock, Matias Wagner, Calvin Yip, Andreas Roos, Rita Carsetti, Carlo Dionisi‐Vici, Mathias Gautel, Michael R Duchen, Adam Antebi, Henry Houlden, Manolis Fanto, Heinz Jungbluth   +140 more
wiley   +1 more source