Results 61 to 70 of about 420 (111)

Changes in Intrinsic Activity of the Primary Somatosensory Cortex Causally Explain Differences in Emotion Perception in Autism

Autism Research, Volume 19, Issue 4, April 2026.
ABSTRACT Autism Spectrum Disorder (ASD) is characterized by certain difficulties in emotion‐related processing. Recent research using electroencephalography (EEG) to measure somatosensory evoked potentials during emotion perception has shown reduced embodiment of emotional expressions in autistic compared to neurotypical individuals, independently from
Martina Fanghella, Danai Dima, Dimitrios Pinotsis, Sebastian B. Gaigg, Beatriz Calvo‐Merino, Bettina Forster   +5 more
wiley   +1 more source

Sialidosis type I: How to alleviate disabling myoclonic seizures?—A multicenter analysis of eight cases and review of the literature

Epilepsia Open, Volume 11, Issue 2, Page 577-591, April 2026.
Abstract Objective Sialidosis type I (ST‐1) is an autosomal‐recessive, very rare, progressive lysosomal storage disorder caused by pathogenic variants in NEU1. It is clinically characterized by progressive ataxia, myoclonic seizures (MS), bilateral tonic–clonic seizures (BTCS), and distinctive ophthalmological findings.
Janina Gburek‐Augustat, I‐Chun Lee, Marica Rubino, Vehap Topçu, Melissa Chavez‐Castillo, Shao Ching Tu, Marwan Shinawi, Isabel Alfradique‐Dunham, Manouela Valtcheva, Astrid Adarmes‐Gómez, Daniel Macias‐Garcia, Laura Laura Muñoz‐Delgado, Silvia Jesús, Pablo Mir, Andreas Merkenschlager, Antonietta Coppola   +15 more
wiley   +1 more source

Early‐Onset Hyperkinetic Movement Disorders Define the Most Severe Presentation of the ATP8A2‐Related Phenotypic Spectrum

International Journal of Developmental Neuroscience, Volume 86, Issue 2, April 2026.
Our short communication establishes that the most severe, early‐onset presentation of ATP8A2 deficiency is a congenital encephalopathy hallmarked by prominent, nonprogressive hyperkinetic movement disorders. Moving beyond the historical CAMRQ4 ataxia classification is essential for the accurate diagnosis of this profound extrapyramidal phenotype ...
Fabio Bruschi, Clara E. Antonello, Cecilia Parazzini, Ylenia Vaia, Maria Iascone, Davide Tonduti   +5 more
wiley   +1 more source

The Functioning of the Second and Third Infinitives in the Veps Language: A Corpus-Based Study Using the VepKar Corpus

Финно-угорский мир
Introduction. The Veps language, as a language with a relatively recent written tradition, requires special attention in terms of the analysis of its grammatical structure.
Maria V. Kosheleva
doaj   +1 more source

The corpus linguistics and the marathon of recordings of Vepsian and Karelian speech as a tool for popularizing the Baltic-Finnish languages of Karelia

Macrosociolinguistics and Minority Languages
The study is dedicated to the prerequisites and results of the Interregional Marathon of Vepsian and Karelian speech recordings “Listening to my native dialect” (January - October 2023). An important component of the policy of preserving the autochthonous languages of the Republic of Karelia is the enrichment with new audio samples of the Baltic ...
Alexandra P. Rodionova, Natalia A. PELLINEN Pellinen   +1 more
openaire   +1 more source

How Old Are the River Names of Europe? A Glottochronological Approach [PDF]

, 2011
The names of large rivers are among the diachronically most stable of all words. The present glottochronological study aims to quantify the lexical preservation rate of this set of words, more specifically of the names of the largest rivers of Europe ...
Peust, Carsten
core   +2 more sources

Exclusion of CLIC5 as a Candidate Gene and Identification of NEFM as a Possible Novel Gene Correlated With Autosomal Recessive Pure Cerebellar Ataxia in a Highly Consanguineous Family

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
Whole‐exome sequencing candidate CLIC5 and NEFM for cerebellar ataxia (CA) onset. In vivo studies exclude CLIC5, while in silico analysis and literature review support NEFM as a candidate gene for CA. These findings could be useful for advancing the genetic diagnosis of hereditary pure CA. Created in https://BioRender.com.
Paolo Enrico Maltese, Gabriele Bonetti, Elena Manara, Benedetta Tanzi, Andrea Bernini, Mark A. Berryman, Soichi Tanda, Corinne Nielsen, Silvia Casagrande, Amanda Ferrero, Salvatore Stano, Riccardo Zuccarino, Andrea Barp, Pietro Chiurazzi, Matteo Bertelli   +14 more
wiley   +1 more source

PDXK‐Related Neuropathy: A Case With a Novel Splice‐Altering Missense Variant and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We report a patient carrying a novel missense variant c.826G>C, p.(Ala276Pro) found in compound heterozygous state with a previously reported variant in the PDXK gene. In silico analysis and our functional studies showed that the novel variant disrupts splicing, which leads to degradation of the aberrant transcript, thereby extending the known disease ...
Dmitrii Subbotin, Daria Akimova, Elena Dadali, Kristina Mikhalchuk, Artem Borovikov, Vitaly Kadyshev, Mikhail Skoblov, Aysylu Murtazina   +7 more
wiley   +1 more source

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B ‐Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series

Clinical Genetics, Volume 109, Issue 4, Page 679-696, April 2026.
Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Sebastian Burkart, Tarik Guzeloglu, Ana R. Soares, Irene Valenzuela, Eduardo F. Tizzano, David Gómez‐Andres, Laurent Pasquier, Marine Legendre, Camille Berges, Julien Thevenon, Marjolaine Gauthier, Caleb Heid, Elly Ranum, Joseph Shen, Michelle Frees, Michael W. Schmidtke, Caro Pilar, Christian P. Schaaf   +17 more
wiley   +1 more source

Identification of Genetic Variation Associated With Heat Tolerance in Cowpea (Vigna unguiculata L. Walp.)

Molecular Ecology, Volume 35, Issue 7, April 2026.
ABSTRACT Heat tolerance is an important trait in cowpea, a crop that is the primary protein source for a large portion of the human population in sub‐Saharan Africa. Cultivated, landrace, semi‐wild, and wild cowpea grow across the region in diverse climatic conditions.
Roland Akakpo, Elaine J. Lee, Jacob B. Pacheco, Esteban F. Rios, Michael B. Kantar, Ousmane Boukar, Kevin M. Volz, Habib Akinmade, Luis Getino, Kenneth J. Boote, María Muñoz‐Amatriaín, Peter L. Morrell   +11 more
wiley   +1 more source