Results 61 to 70 of about 2,915 (182)

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

BILINGUAL TEXT′S FEATURES IN THE HISTORY OF KARELIAN LITERATURE

Transactions of the Karelian Research Centre of the Russian Academy of Sciences, 2015
This article analyses typical themes and features of bilingual lyric poetry of national Karelian poets O.Mishin – A.Hiiri (ethnic Ingrian Finn, who makes verses in the Finnish and Russian languages), A.Volkov (ethnic Karelian, who makes verses in the ...
Maria Kazakova
doaj   +1 more source

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

Confronting the Extinction Narrative: Diversity research, media, and folk views on language endangerment [PDF]

, 2015
The presentation is based on experiences from the EU-FP7 research project ELDIA, in which comparative research on the maintenance of linguistic diversity was conducted with a wide range of multilingual minority communities across Europe.
Laakso, Johanna
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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

Field Research of Karelian Toponymy [PDF]

Вопросы ономастики, 2012
The article reviews toponymy field research carried out by the Institute of Language, Literature and History of the Karelian Research Centre of the Russian Academy of Sciences during the past 40 years and aiming to create and enlarge the card index of ...
Irma I. Mullonen
doaj  

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

Discovery-dominance trade-off among widespread invasive ant species. [PDF]

, 2015
Ants are among the most problematic invasive species. They displace numerous native species, alter ecosystem processes, and can have negative impacts on agriculture and human health.
Avril, A., Bertelsmeier, C., Blight, O., Courchamp, F., Jourdan, H.   +4 more
core   +3 more sources

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

Nägemistaju automaatsete protsesside eksperimentaalne uurimine [PDF]

, 2018
Väitekirja elektrooniline versioon ei sisalda publikatsiooneVäitekiri keskendub nägemistaju protsesside eksperimentaalsele uurimisele, mis on suuremal või vähemal määral automaatsed. Uurimistöös on kasutatud erinevaid eksperimentaalseid katseparadigmasid
Põldver, Nele
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