Results 51 to 60 of about 126 (85)

Functional Segregation of Epileptogenicity within the Human Amygdala

Annals of Neurology, Volume 99, Issue 6, Page 1598-1612, June 2026.
Objective In temporal lobe epilepsy (TLE), the amygdala in the epileptogenic network is underestimated compared to other regions such as the hippocampus. Recent advances in anatomical neuroimaging and stereoelectroencephalography (SEEG) signal analyses could help better understand the involvement of the different amygdala nuclei in the genesis of ...
Odile Feys, Julia Makhalova, Samuel Medina Villalon, Maria Fratello, Hugo Dary, Stanislas Lagarde, Francesca Pizzo, Agnès Trébuchon, Maxime Guye, Jean‐Philippe Ranjeva, Romain Carron, Didier Scavarda, Christian‐George Bénar, Bernard Giusiano, Fabrice Bartolomei   +14 more
wiley   +1 more source

Phenotypic Refinement of ESAM‐Related Tight‐Junctionopathy: Novel Genetic and Ocular Findings and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Overview of neurological, ocular, and genetic findings in individuals with bi‐allelic loss‐of‐function (LoF) ESAM variants. All affected subjects (n = 21) exhibited characteristic neurovascular and neurodevelopmental anomalies, while 45% also showed ocular (mainly retinal) involvement.
Mauro Lecca, Chiara Bosetti, Federico Ruoli, Liviana Fontanel, Marco Mazza, Enza Maria Valente, Roberta Battini, Edoardo Errichiello   +7 more
wiley   +1 more source

Linguistes, activistes et locuteurs : trois terrains croisés (vepse, tabarquin, croate molisain) [PDF]

, 2019
Trois expériences récentes de terrain réalisées dans un contexte minoritaire européen sont présentées ici, qui illustrent les différentes facettes d’un aménagement linguistique conduit essentiellement par la société civile : les terrains vepse, tabarquin
Djordjević-Léonard, Ksenija
core   +1 more source

Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
This study reports novel compound heterozygous LAMA1 variants in two siblings with Poretti‐Boltshauser syndrome presenting with cerebral hypomyelination. It provides the first clinical evidence linking LAMA1 to CNS dysmyelination, expanding the phenotypic spectrum and offering mechanistic insights into this rare association. ABSTRACT Background Poretti‐
Si Huang, Yiyang Li, Jing Xin, Wenhui Mo, Xiuwen Lin, Bingbin Mai, Junbin He, Xiaoli Zhong, Jiaxin Xu   +8 more
wiley   +1 more source

Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
We report a Palestinian female infant with a homozygous pathogenic EFL1 variant (c.3284G>A; p.Arg1095Gln) causing Shwachman–Diamond syndrome type 2 (SDS2). Beyond the classical features of pancytopenia, exocrine pancreatic insufficiency, and growth failure, the patient showed previously unreported ocular manifestations—stage 2–3 retinopathy of ...
Ibrahim Taha, Antonella Minelli, Cesare Danesino, Abdelrahman Swalmeh, Khalil Huraibat, Liana Al‐Labadi, Rema Obar, Khaled R. Beshtawi, Lubna Abu Samrah, Yousef Awlad Mohammad, Aya Farah, Abdulrahman Obar, Mutasem Khalaf, Orwa Nasser   +13 more
wiley   +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

Multi‐Level Genomic and Computational Analyses Identify a Novel IFT122 Variant Associated With Cranioectodermal Dysplasia 1 in a Consanguineous Saudi Family

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
Integrated phenotypic, genomic and computational analyses identified a novel homozygous IFT122 variant causing cranioectodermal dysplasia 1. Structural modeling predicts destabilization of IFT122 protein and altered interactions within the IFT‐A complex, supporting its pathogenicity.
Deema Aljeaid, Abdulrahman Almadiny, Khalidah K. Nasser, Mahmoud Almutadares, Noha M. Issa   +4 more
wiley   +1 more source

MAVISp: A modular structure‐based framework for protein variant effects

Protein Science, Volume 35, Issue 5, May 2026.
Abstract The role of genomic variants in disease has expanded significantly with the advent of advanced sequencing techniques. The rapid increase in identified genomic variants has led to many variants being classified as Variants of Uncertain Significance or as having conflicting evidence, posing challenges for their interpretation and ...
Matteo Arnaudi, Mattia Utichi, Kristine Degn, Matteo Tiberti, Ludovica Beltrame, Karolina Krzesińska, Pablo Sánchez‐Izquierdo Besora, Eleni Kiachaki, Simone Scrima, Laura Bauer, Katrine Meldgård, Anna Melidi, Lorenzo Favaro, Anu Oswal, Guglielmo Tedeschi, Terézia Dorčaková, Alberte Heering Estad, Joachim Breitenstein, Jordan Safer, Paraskevi Saridaki, Valentina Sora, Francesca Maselli, Philipp Becker, Jérémy Vinhas, Alberto Pettenella, Matteo Lambrughi, Claudia Cava, Anna Rohlin, Mef Nilbert, Sumaiya Iqbal, Peter Wad Sackett, Burcu Aykac Fas, Elena Papaleo   +32 more
wiley   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 929-936, April 2026.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

The Vepsian Lühüdpajods: Its Basic Structure, Performance Practices and Stylistic Changes

, 2012
Jari Eerolan väitöskirja – Vepsäläiset lühüdpajot: perusrakenteet, esityskäytännöt ja tyylillinen muutos – käsittelee vepsäläisten suulliseen perinteeseen perustuvien laulujen ominaispiirteitä.
Eerola, Jari
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