Results 181 to 190 of about 1,610,898 (370)

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Cerebral Small Vessel Disease in Older Adults With Olfactory Dysfunction

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Poor vascular health has been associated with age‐related declines in sensory functions, including olfaction. The current study was designed to test the hypothesis that cerebral small vessel disease underlies poor olfactory function due to structural declines in brain regions that support olfaction.
Mark A. Eckert, Judy R. Dubno, Zachary M. Soler, Rodney J. Schlosser   +3 more
wiley   +1 more source

Acute Effects of Alcohol on Auditory Thresholds and Distortion Product Otoacoustic Emissions in Humans [PDF]

, 2003
Juen-Haur Hwang, Ching‐Ting Tan, Ching-Wen Chiang, Tien‐Chen Liu   +3 more
openalex   +1 more source

Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study

Annals of Neurology, EarlyView.
Objective Landau–Kleffner syndrome (LKS), is a rare, poorly‐understood epileptic encephalopathy with spike–wave activation in sleep associated with mutations in GRIN2A, encoding the N‐Methyl‐D‐Aspartate receptor (NMDAR) GluN2A subunit. Physicians rely on empirical treatments, with scarce information on treatment efficacy and outcomes.
Adeline Ngoh, Maria Clark, Rebecca Greenaway, Xiumin Chen, Kimberley M. Reid, Katy Barwick, Esther Meyer, Dale Moulding, Natalie Trump, J. Helen Cross, Sean D. Fraser, Lachlan de Hayr, Dimitri M. Kullmann, Joseph W. Lynch, Robert J. Harvey, Manju A. Kurian   +15 more
wiley   +1 more source

Prolonged noise exposure-induced auditory threshold shifts in wistar rats: Proposal of an experimental exposure protocol based on noise dose. [PDF]

Braz J Otorhinolaryngol
Zica ACO, Novanta GR, Sampaio MLQ, de Andrade RR, Serra LSM, Sampaio ALL.   +5 more
europepmc   +1 more source

Auditory‐Threshold Recovery after Exposures to Pure Tones

, 1955
I. Hirsh, R. Bilger, W. Burns
semanticscholar   +1 more source

Comparison of the Auditory Threshold of Békésy Audiometry, with the Threshold of Pure Tone Audiometry

, 1983
Setsuko Morinaka, Toshiko Yoshinobu, Etsuo Yamamoto   +2 more
openalex   +2 more sources

Towards a Unifying Basis of Auditory Thresholds: The Effects of Hearing Loss on Temporal Integration Reconsidered [PDF]

, 2004
Heinrich Neubauer, Peter Heil
openalex   +1 more source

Mapping Postictal Aphasia through Signal Complexity: A Stereo‐Electroencephalography Study

Annals of Neurology, EarlyView.
Objective The postictal period provides an opportunity to investigate the pathophysiology underlying aphasia and recovery following epileptic seizures. This study examines postictal aphasia in stereo‐electroencephalography (SEEG)‐explored patients to identify brain regions associated with task‐specific language deficits using signal complexity analysis.
Ionuț‐Flavius Bratu, Christian G. Bénar, Samuel Medina Villalon, Lison Ciavatti, Fantine Mazel, Fabrice Bartolomei, Agnès Trébuchon   +6 more
wiley   +1 more source

Using a Combination of Click- and Tone Burst–Evoked Auditory Brain Stem Response Measurements to Estimate Pure-Tone Thresholds [PDF]

, 2006
Michael P. Gorga, Tiffany A. Johnson, Jan R. Kaminski, Kathryn L. Beauchaine, Cassie A. Garner, Stephen T. Neely   +5 more
openalex   +1 more source