Results 121 to 130 of about 1,043,443 (304)
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 +17 more
wiley +1 more source
Études romanes de BrnoThe term neologism was formed in linguistics a few centuries before it was given the definition we use today. During the evolution of the term in linguistics, another discipline, medicine, adopted the concept and thus began to use it to refer to words ...
Michal Varchol
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown +6 more
wiley +1 more source
Studia Universitatis Babeş-Bolyai. Psychologia-PaedagogiaThe correction of speech and language disorders, in general, stimulates the psychic development of the individual, his integration in activity and life, leads to the affirmation of the personality on a social and cultural level.
Elena CRIȘAN
doaj +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.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
L’apport de la linguistique de corpus à l’étude des situations cliniques : l’utilisation de ressources écologiques [PDF]
Studii de Lingvistica, 2017 Studies in the field of language acquisition and language disorders are part of different and complementary theoretical frameworks. These approaches vary from experimental to natural resource methods.
Christine da Silva Genest +1 more
doaj
Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang +10 more
wiley +1 more source
Compromised Speech Processing in Language Disorders [PDF]
, 2008 The relationship between the control of processes required for speech and language production were investigated in the context of fluency analysis of natural language samples produced by aphasic speakers.
Hird, Kathryn, Kirsner, Kim
core +1 more source