Results 211 to 220 of about 69,903 (252)

Left-sided metamorphopsia of the face and simple objects caused by an infarction at the right side of the splenium of the corpus callosum

, 2015
Akiko Nagaishi, Tomoko Narita, Yuichiro Gondo, Shunya Nakane, Takayasu Fukudome, Hidenori Matsuo   +5 more
openalex   +2 more sources

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, EarlyView.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source

EARLY-ONSET SCHIZOPHRENIA AND AGENESIS OF THE CORPUS CALLOSUM: A CASE REPORT AND LITERATURE REVIEW

H. Ballyout, S. Karroumi, O. Bounsir, M. Berghalout, Z. Ennaciri, F. Z. El Fahiri, I. Adali, F. Manoudi   +7 more
openalex   +1 more source

Successful Operative Radical Treatment of Arteriovenous Malformation Involving the Length of the Corpus Callosum

, 1987
Teruhiko Tanaka, Akira Andoh
openalex   +2 more sources

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology

Epilepsia, EarlyView.
Abstract Objective To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...
Simona Balestrini, Ilaria Galli, Maria Luisa Ricci, Elena Parrini, Davide Mei, Mario Mastrangelo, Francesco Pisani, Corinna Filippi, Lucio Giordano, Elisabetta Cesaroni, Carla Marini, Emanuele Cerulli Irelli, Carlo di Bonaventura, Marica Rubino, Antonietta Coppola, Jacopo Proietti, Tommaso Lo Barco, Francesca Darra, Laura Licchetta, Francesca Bisulli, Marco Perulli, Domenica Battaglia, Angela De Dominicis, Marina Trivisano, Nicola Specchio, Roberta Solazzi, Davide Caputo, Laura Canafoglia, LICE Collaborative group, Carmen Barba, Emanuele Bartolini, Pia Bernardo, Maria Paola Canevini, Gaetano Cantalupo, Susanna Casellato, Mara Cavallin, Ilaria Contaldo, Alessandro Ferretti, Maria Luigia Gambardella, Tiziana Granata, Giuliana Lentini, Anna Luchetti, Federico Melani, Pasquale Parisi, Simona Pellacani, Laura Pietrangelo, Tiziana Pisano, Ilaria Onida, Emilia Ricci, Aglaia Vignoli, Renzo Guerrini   +50 more
wiley   +1 more source

NeuroD family transcription factors regulate corpus callosum formation and cell differentiation during cerebral cortical development

, 2016
Kuo Yan
openalex   +1 more source

Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous ADSL Variant Inducing Aberrant Splicing

Prenatal Diagnosis, EarlyView.
Aysegül Klapperich, Vaclava Skopova, Mert Karakaya, Clara Velmans, Christian Netzer, Brigitte Strizek, Lenka Steiner Mrazova, Marie Zikanova   +7 more
wiley   +1 more source

Clobazam versus corticosteroid for developmental and epileptic encephalopathy with spike–wave activation in sleep ((D)EE‐SWAS): Results of a multicenter observational study

Epilepsia, EarlyView.
Abstract Objective Developmental and epileptic encephalopathy with spike–wave activation in sleep ((D)EE‐SWAS) is associated with acquired cognitive and behavioral deficits. This international multicenter study aimed to compare cognitive and safety outcomes following initial treatment with corticosteroid and clobazam in patients not eligible for the ...
Marleen M. L. van Arnhem, Linde J. Vijn, Guido Rubboli, Marianne Søndergaard Khinchi, Petia Dimova, Emilio Perucca, Valentina De Giorgis, Liisa Metsähonkala, Georgia Ramantani, Anna Jansen, Richard Chin, Lieven Lagae, Alexis Arzimanoglou, Wim M. Otte, Frans S. S. Leijten, Heleen C. van Teeseling, Kees P. J. Braun, Floor E. Jansen, Bart van den Munckhof   +18 more
wiley   +1 more source

Olig2‐specific loss‐of‐function Slc35a2 results in hypomyelination and spontaneous seizures

Epilepsia, EarlyView.
Abstract Objective Malformations of cortical development represent major causes of drug‐resistant epilepsy, with mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy recognized as a distinct pathological entity. Pathogenic X‐linked SLC35A2, encoding the uridine diphosphate–galactose transporter, has been implicated ...
Tiffany M. Bartel, Chaitali Ghosh, Kathryn Bisaha, Jean Khoury, Ashley Nemes‐Baran, Ingmar Blumcke, Imad Najm   +6 more
wiley   +1 more source