Results 81 to 90 of about 173,627 (309)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Brainstem and Cerebellar Volume Loss and Associated Clinical Features in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel, Timothy P. Siejka, Cassandra Marotta, Josh J. Y. Lee, Kelly Bertram, Terence J. O'Brien, Meng Law, Lucy Vivash, Ian H. Harding   +8 more
wiley   +1 more source

Barriers Faced by Deaf Individuals while Availing Speech and Hearing Services

Auditory and Vestibular Research
Background and Aim: Deaf individuals in India face significant auditory impairment, leading to challenges in accessing services. Studies highlight the need to enhance communication services and accessibility to ensure fair access to resources for the ...
Reuben Thomas Varghese, Rajkumar Rimmalapudi, Rubby Viren, Karthik Venkat Sridaran, Reshma Odungattu, Govindaraju Teja   +5 more
doaj   +1 more source

Iconicity in Signed and Spoken Vocabulary: A Comparison Between American Sign Language, British Sign Language, English, and Spanish

Frontiers in Psychology, 2018
Considerable evidence now shows that all languages, signed and spoken, exhibit a significant amount of iconicity. We examined how the visual-gestural modality of signed languages facilitates iconicity for different kinds of lexical meanings compared to ...
Marcus Perlman, Hannah Little, Bill Thompson, Robin L. Thompson   +3 more
doaj   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

The Interpreters' Newsletter 19, Sign Language Interpreting

, 2014
This issue of The Interpreters’ Newsletter aims to address a number of topics of interest in this growing area of Interpreting Studies presented in the form of discussion on prevailing situations, personal impressions on the profession (e.g.
Schaumberger Elke, Freelance Sign Language interpreter, Napier Jemina, Heriot Watt University, de Wit Maya, Freelance Sign Language interpreter, Swabey Laurie, S. t. Catherine University, Sluis Irma, Freelance Sign Language interpreter, Wang Jihong, Macquarie University, Alley Erica, S. t. Catherine University, Kellett, CYNTHIA JANE MARY, Nicodemus Brenda, Gallaudet University, Kellett C.J, Shaw Sherry, University of North Florida, Taylor Marty M., Interpreting Consolidated, Brück Patricia, Freelance Sign Language interpreter   +12 more
core  

Sign Languages of the World [PDF]

, 2006
Although sign language-using communities exist in all areas of the world, few sign languages have been documented in detail. Sign languages occur in a variety of sociocultural contexts, ranging from sign languages used in closed village communities to officially recognized national sign languages.
openaire   +2 more sources

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Creating a multifaceted corpus of Swedish Sign Language

, 2023
This chapter discusses the preparatory work of creating a collection of corpora, together functioning as a multifaceted corpus of the same sign language, across three data subsets of signing in different modalities and on different learning levels ...
Mesch, Johanna,
core   +1 more source

Who’s going the distance here? Fictive motion in (German) sign language

Cognitive Linguistics
Frame-relative fictive motion describes a linguistic phenomenon whereby the motion of an entity is communicated via the – fictive – motion of stationary background objects.
Loos Cornelia, Napoli Donna Jo
doaj   +1 more source