Results 71 to 80 of about 141,996 (298)

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Transient evoked otoacoustic emissions testing for screening of sensorineural deafness in puppies [PDF]

, 2011
<p><b>Background:</b> Transient evoked otoacoustic emissions (TEOAE) are widely used for human neonatal deafness screening, but have not been reported for clinical use in dogs.</p> <p><b>Hypothesis/Objectives:< ...
Ahlstrom, Branis, De Capua, Doyle, Famula, Hall, Igarashi, Kemp, Korres, Lonsbury-Martin, Lonsbury-Martin, Lurie, Maxon, Platt, Rhodes, Schemera, Sims, Sockalingam, Strain, Strain, Strain, Strain, Ter Haar, Wilkes, Wilson, Wood   +25 more
core   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

Auditory evoked potentials: predicting speech therapy outcomes in children with phonological disorders

Clinics, 2014
OBJECTIVES: This study investigated whether neurophysiologic responses (auditory evoked potentials) differ between typically developed children and children with phonological disorders and whether these responses are modified in children with ...
Renata Aparecida Leite, Haydée Fiszbein Wertzner, Isabela Crivellaro Gonçalves, Fernanda Cristina Leite Magliaro, Carla Gentile Matas   +4 more
doaj   +1 more source

Cuneiform Nucleus Stimulation Can Assist Gait Training to Promote Locomotor Recovery in Individuals With Incomplete Tetraplegia

Annals of Neurology, EarlyView.
Objective Impaired ability to induce stepping after incomplete spinal cord injury (SCI) can limit the efficacy of locomotor training, often leaving patients wheelchair‐bound. The cuneiform nucleus (CNF), a key mesencephalic locomotor control center, modulates the activity of spinal locomotor centers via the reticulospinal tract.
Anna‐Sophie Hofer, Lennart H. Stieglitz, Marc Bolliger, Linard Filli, Adrian Cathomen, Romina Willi, Irina Lerch, Iris Krüsi, Melina Giagiozis, Christian Meyer, Martin Schubert, Michèle Hubli, Thomas M. Kessler, László Demkó, Christian R. Baumann, Lukas Imbach, Markus F. Oertel, Andrea Prusse, Alina Kiseleva, Luca Regli, Martin E. Schwab, Armin Curt   +21 more
wiley   +1 more source

The auditory brainstem response to complex sounds: a potential biomarker for guiding treatment of psychosis

Frontiers in Psychiatry, 2014
Cognitive deficits limit psychosocial functioning in schizophrenia. For many patients, cognitive remediation approaches have yielded encouraging results.
Melissa A Tarasenko, Melissa A Tarasenko, Neal R Swerdlow, Scott eMakeig, David L Braff, Gregory A Light, Gregory A Light   +6 more
doaj   +1 more source

RISIKO GANGGUAN PENDENGARAN PADA NEONATUS HIPERBILIRUBINEMIA [PDF]

, 2010
Background. The prevalence of hearing impairment on the Indonesian population according to 2007 WHO data is estimated at 4.2 %, and one of the cause is neonatal hyperbilirubinemia.
Susanto, Susanto
core  

Brainstem auditory evoked responses in an equine patient population: part I--adult horses. [PDF]

, 2014
BackgroundBrainstem auditory evoked response has been an underused diagnostic modality in horses as evidenced by few reports on the subject.Hypothesis/objectivesTo describe BAER findings, common clinical signs, and causes of hearing loss in adult horses ...
Aleman, M, Holliday, TA, Nieto, JE, Williams, DC   +3 more
core   +1 more source

Age-Related Maturation of Wave V Latency of Auditory Brainstem Response in Children

Journal of Audiology & Otology, 2016
Background and Objectives Auditory brainstem response (ABR) is a noninvasive measurement of a stimulus-locked, synchronous electrical event. ABR provides information concerning the functional integrity of brainstem nuclei.
Mukesh Sharma, S. Bist, Santosh Kumar
semanticscholar   +1 more source

Sex Differences in Auditory Brainstem Responses of Two Rat Models of Autism: Environmental and Genetic Contributions to Autism‐Like Auditory Function

Autism Research, EarlyView.
ABSTRACT Autism is an early‐onset neurodevelopmental disorder characterized by restricted, repetitive behaviors and atypical patterns of social communication and interaction. A considerable proportion of autistic individuals experience divergent auditory perception, which can interfere with their ability to navigate everyday sound environments ...
Sara Cacciato‐Salcedo, Ana B. Lao‐Rodríguez, Manuel S. Malmierca   +2 more
wiley   +1 more source