Results 71 to 80 of about 248,426 (329)

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Erratum: Wideband acoustic immittance for assessing middle ear functioning for preterm neonates in the neonatal intensive care unit

South African Journal of Communication Disorders, 2018
No abstract available.
Nandel Gouws, De Wet Swanepoel, Leigh Biagio de Jager   +2 more
doaj   +1 more source

Diagnostic Challenge in Frontal Variant Alzheimer's Disease With Low Amyloid‐β PET Retention

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Diagnosing frontal variant Alzheimer's disease (fvAD) is difficult and could be even more difficult when amyloid‐beta (Aβ) PET retention is low. A 63‐year‐old woman presenting with a 3‐year history of apathy and memory impairment showed executive dysfunction, memory impairment, and severe bilateral frontotemporal atrophy on MRI.
Ryosuke Shimasaki, Masanori Kurihara, Kenji Ishibashi, Aya Midori Tokumaru, Kenji Ishii, Atsushi Iwata   +5 more
wiley   +1 more source

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson   +19 more
wiley   +1 more source

Dysphagia and Mortality Risk in Individuals With Primary Progressive Apraxia of Speech

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Individuals with primary progressive apraxia of speech (PPAOS) often develop parkinsonism and dysphagia. To evaluate the clinical correlates and impact of dysphagia in this population, we compared enrollment visit data between individuals with (n = 12) versus individuals without (n = 44) dysphagia symptoms.
Gabriela Meade, Nha Trang Thu Pham, Sarah M. Boland, Heather M. Clark, Joseph R. Duffy, Jennifer L. Whitwell, Hugo Botha, Keith A. Josephs, Rene L. Utianski   +8 more
wiley   +1 more source

Early detection of communication delays with the PEDS tools in at-risk South African infants

African Journal of Disability, 2016
Background: Prevalence of communication delays or disorders is increasing, possibly because of various environmental risk factors. Selection and implementation of effective screening tools are important to detect at-risk infants as early as possible ...
Jeannie van der Linde, De Wet Swanepoel, Linique Hanekom, Tasha Lemmer, Karla Schoeman, Frances P. Glascoe, Bart Vinck   +6 more
doaj   +1 more source

Development and validation of educational multimedia to promote public health literacy about healthy cognitive aging

Health Expectations, 2023
Objectives Health literacy (HL) about healthy cognitive aging is essential in preventing cognitive decline and promoting cognitive well‐being. It is important that one such HL module should be scientifically designed, delivered in a technically sound ...
Aysha Rooha, Shreya Shetty, Gagan Bajaj, Nidhi L. Jacob, Vinitha M. George, Jayashree S. Bhat   +5 more
doaj   +1 more source

Development of Auditory Memory and Sequencing Test for Marathi Speaking Children

Online Journal of Health & Allied Sciences, 2018
Objectives: Aims of the study were to develop test material for evaluation of auditory memory and sequencing in Marathi; to compare scores in children across the age and among children with and without symptoms of Central auditory processing disorders ...
Piyush Sone, Vanaja CS
doaj  

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Effect of stimulus polarity on speech evoked auditory brainstem response

Audiology Research, 2014
The aim of the present study was to investigate the effect of stimulus polarity on speech evoked auditory brainstem response (ABR). In order to accomplish it, speech evoked ABR was recorded with various stimulus polarities from 17 normally hearing adults.
Kaushlendra Kumar, Jayashree S. Bhat, Pearl Edna D’Costa, Manav Srivastava, Mohan Kumar Kalaiah   +4 more
doaj   +1 more source