Results 231 to 240 of about 5,928,974 (349)

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, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

A <i>SCN1A</i> missense variant (c.4522T>A, p.(Tyr1508Asn) associated with genetic epilepsy with febrile seizures plus: clinical phenotype and genetic analysis of a Chinese pedigree. [PDF]

Front Genet
Li XL.
europepmc   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Toward the establishment of best practice guidelines for human research in Genomic Medicine in Brazil. [PDF]

Genet Mol Biol
Ludwig FS, Artigalás O, Rodrigues NF, Prolla PA, Matte UDS, Saute JAM.   +5 more
europepmc   +1 more source

Identification and assembly of genomes and genetic elements in complex metagenomic samples without using reference genomes

Nature Biotechnology, 2014
H. B. Nielsen, Mathieu Almeida, A. S. Juncker, S. Rasmussen, Junhua Li, S. Sunagawa, D. Plichta, L. Gautier, A. G. Pedersen, E. Le Chatelier, Eric Pelletier, Ida Bonde, Trine Nielsen, C. Manichanh, Manimozhiyan Arumugam, Jean-Michel Batto, Marcelo B Quintanilha dos Santos, Nikolaj S. Blom, N. Borruel, K. Burgdorf, F. Boumezbeur, F. Casellas, J. Doré, Piotr Dworzynski, F. Guarner, T. Hansen, F. Hildebrand, R. Kaas, Seán Kennedy, Karsten Kristiansen, Jens Roat Kultima, Pierre Leonard, F. Levenez, Ole Lund, Bouziane Moumen, Denis Le Paslier, N. Pons, Oluf Pedersen, Edi Prifti, Junjie Qin, Jeroen Raes, S. Sørensen, Julien Tap, S. Tims, D. Ussery, Takuji Yamada, H Bjørn Mathieu Agnieszka S Simon Junhua Shinichi Da Nielsen Almeida Juncker Rasmussen Li Sunagawa Plic, A. S. Juncker, Manimozhiyan Arumugam, Karsten Kristiansen, Pierre Leonard, P. Renault, Thomas Sicheritz-Pontén, P. Bork, Jun Wang, S. Brunak, S. Ehrlich, A. Jamet, Alexandre Mérieux, Antonella Cultrone, A. Torrejon, B. Quinquis, Christian Bréchot, C. Delorme, Christine M'Rini, Willem M. de Vos, Emmanuelle Maguin, E. Varela, É. Guédon, Falony Gwen, Florence Haimet, F. Artiguenave, Gaetana Vandemeulebrouck, G. Denariaz, Ghalia Khaci, H. Blottière, Jan Knol, Jean Weissenbach, J. V. H. van Hylckama Vlieg, J. Torben, Julian Parkhill, K. Turner, M. van de Guchte, M. Antolín, Maria Rescigno, M. Kleerebezem, M. Derrien, N. Galleron, Nicolas Sanchez, N. Grarup, P. Veiga, R. Oozeer, R. Dervyn, Séverine Layec, T. Bruls, Yohanan Winogradski, Zoetendal Erwin G, S. Brunak, S. Ehrlich   +98 more
semanticscholar   +1 more source

A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai, Sen Zhang, Haipei Zhang, Yating Zhang, Junhong Guo, Xiaoyan Yang   +5 more
wiley   +1 more source

Cross-Ancestry Polygenic Prediction: Comparing Methods and Assessing Transferability Across Traits. [PDF]

Genet Epidemiol
Momin MM, Zhou X, Ahmed M, Hyppönen E, Benyamin B, Lee SH.   +5 more
europepmc   +1 more source

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

Annals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao, Qiu‐Ping Zhao, Run‐Yun Li, Wei Chen, Huan‐Huan Song, Wan‐Jin Chen, Ying Fu   +6 more
wiley   +1 more source

Genetic, Socioecological, and Health Research on Extreme Longevity in Semisupercentenarians and Supercentenarians: A Scoping Review. [PDF]

J Aging Res
Abdelraheem O, El Kheir-Mataria WA, Chun S.   +2 more
europepmc   +1 more source

Quantifying the Impact of Ocrelizumab on Paramagnetic Rim Lesions in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Paramagnetic rim lesions (PRLs) are a subset of chronic active multiple sclerosis (MS) lesions marked by iron‐laden microglia and macrophages. Ocrelizumab, a monoclonal antibody targeting CD20+ B cells, suppresses acute MS activity, but its effect on PRLs remains unclear. In a longitudinal study of 29 ocrelizumab‐treated patients with at least
Kimberly H. Markowitz, Neha V. Safi, Iliana Pliska‐Bloch, Ulrike W. Kaunzner, Ha Luu, Mert Sisman, Yi Wang, Thanh D. Nguyen, Sandra Hurtado Rúa, Susan A. Gauthier   +9 more
wiley   +1 more source