Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
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 +17 more
wiley +1 more source
Adoption of the sign language with deaf and hard of hearing preschool children [PDF]
This study analyses the process of adopting of the sign language with deaf and hard of hearing preschool children in the context of the result of linguistic and psycholinguistic research.
Kovačević Tamara R. +1 more
doaj
ABSTRACT Background Emerging evidence suggests that low‐frequency neural oscillations are dynamically regulated by consciousness levels, with the recovery of low cortical activity potentially serving as a neurophysiological substrate for conscious emergence. Targeted enhancement of these low‐frequency rhythms in patients with disorders of consciousness
Chuan Xu +10 more
wiley +1 more source
The relationship between spoken word production and comprehension [PDF]
0ntbrkt;
openaire +2 more sources
Independent Effects of Orthographic and Phonological Facilitation on Spoken Word Production in Mandarin [PDF]
A picture-word interference paradigm with Visually presented distractors was used to investigate the independent effects of orthographic and phonological facilitation on Mandarin monosyllabic word production.
Weekes, Brendan Stuart +3 more
core
Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli +5 more
wiley +1 more source
O ritmo bimoraico e as moras não-plenas do japonês: reflexões sobre o ensino da língua oral
This article focus es on the production of the so called special mora of the Japanese language spoken by Brazilian learners of Japanese from the point of view of bimoraicity as proposed by Bekku (1977) and Poser (1985, 1990). The data consist of excerpts
Elza Taeko Doi
doaj
Impairment of Arabic- and Spoken-Number Processing in Children With Mathematical Learning Disability
The performance of 24 French-Quebec 8‒9-year-old children with Mathematical Learning Disability (MLD) in Arabic and spoken number recognition, comprehension and production tasks designed to assess symbolic number processing was compared to that of 37 ...
Anne Lafay +2 more
doaj +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
The Signs of Silence – An Overview of Systems of Sign Languages and Co-Speech Gestures
The paper presents an overview of sign languages and co-speech gestures as two means of communication realised through the visuo-spatial modality. We look at previous research to examine the correlation between spoken and sign language phonology, but ...
Emilija Mustapić, Frane Malenica
doaj +1 more source

