Results 61 to 70 of about 484,732 (387)

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Support for families intellectually disabled child by the Centers for Rehabilitation - Education - Educational in the Silesian Agglomeration

Journal of Education, Health and Sport, 2018
Introduction: A child with intellectual disability and take care of him is a big challenge for the whole family. There is no doubt, that parents need support for themselves and their children in order to cope with numerous burdens.
Laura Tomkiewicz-Montowska
doaj   +3 more sources

VIRTUAL REALITY A PRAGMATIC TECHNIQUE FOR MULTI SENSORY STORY TELLING TO IMPROVE THE SOCIAL COMMUNICATION OF CHILDREN WITH SPECIAL NEEDS

ICTACT Journal on Soft Computing, 2021
Student with special needs often encounter problems where they lack their basic needed skill. These kids face challenges in interacting with the society. These kids often have a low level of social communication.
S Prabakar, K Porkumaran, S Ramanan, K Cheranmadevi   +3 more
doaj   +1 more source

CAC Corner: Kudos to CPD for a Job Well Done [PDF]

, 2012
https://digitalcommons.usu.edu/cpd_blog/1532/thumbnail ...
Center for Persons With Disabilities
core   +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

Poverty alleviation among persons with disabilities via United Nations' sustainable development goals in Ghana: Voices of stakeholders with disabilities

Sustainable Development, 2018
Consistently, it has been reported that persons with disabilities face multiple challenges in societies and thus it is important that deliberate intervention programs are initiated to empower them to overcome exclusion.
M. Opoku, J-F, K. Swabey, Darren Pullen, Tony Dowden   +4 more
semanticscholar   +1 more source

Brown Bag Discussion: Disability in Federal Legislation [PDF]

, 2012
https://digitalcommons.usu.edu/cpd_blog/1498/thumbnail ...
Center for Persons With Disabilities
core   +1 more source

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini, Rosario Vasta, Alberto Brusati, Francesco Scheveger, Silvia Peverelli, Alessio Maranzano, Alberto Doretti, Francesco Gentile, Eleonora Colombo, Maura Brunetti, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Davide Gentilini, Stefano Messina, Federico Verde, Claudia Morelli, John E. Landers, Bryan J. Traynor, Adriano Chiò, Vincenzo Silani, Andrea Calvo, Antonia Ratti, Nicola Ticozzi   +24 more
wiley   +1 more source

Effects of temporal properties of facial expressions on the perceived intensity of emotion

Royal Society Open Science, 2023
A series of multiple facial expressions can be temporally perceived as an averaged facial expression in a process known as ensemble perception. This study examined the effect of temporal parameters on the perceived intensity of facial expression in each ...
Yuki Harada, Junji Ohyama, Makoto Wada
doaj   +1 more source

Employment of Persons with Disabilities

Procedia - Social and Behavioral Sciences, 2015
AbstractIn a society whose economic mechanisms are based on the principles of a competitive economy, the prosperity of a family depends primarily on its members engaging in gainful economic activities. A special category represents those families are composed of people with disabilities These families have greater economic problems than others due to ...
openaire   +2 more sources