Results 171 to 180 of about 1,261,383 (268)

European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework. [PDF]

Front Public Health
Fortunato F, Selvatici R, Kirschner J, Sansen S, Agolini E, Ottombrino S, Bertini E, Novelli A, Einhorn M, Matalonga L, Beltran S, Gut IG, Pereira AM, Hiort O, Schaefer F, Verloes A, Lohse AW, Wilde AAM, Bodemer C, Jondeau G, Dollfus H, Graessner H, Mathijssen IMJ, L'khssim I, Blay JY, Sangiorgi L, Fenaux P, Mañú Pereira MDM, Gutiérrez Valle V, Mosca M, Hoogerbrugge N, Wijnen R, Evangelista T, D'Angelo C, Wagner TOF, Feitz WFJ, Ladenstein R, Dobai Z, Wulffraat N, Ruperto N, Jara Vega P, Bellettato CM, Scarpa M, Onali M, Tchaicha S, Arzimanoglou A, Oh J, Lenz D, Tumiene B, Zygmunt A, Ferlini A.   +50 more
europepmc   +1 more source

Validity of a Wearable Digital Insole for Assessing Gait ON and OFF in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Gait impairment is a distinctive symptom of Parkinson's disease that negatively impact mobility. We assessed the validity of wearable digital insoles against a validated reference gait analysis system for measuring select gait characteristics in patients with Parkinson's disease. Methods A comparative analysis between digital insoles
Deborah A. Hall, Kimberly Kwei, Rolando J. Acosta, Bharatkumar Koyani, Erin Robertson, Pratyush Rai, Roland Barge, Emily Timm, Nicollette L. Purcell, Natasha Desai, Dhanesh Patel, Ana‐Maria Visoiu‐Knapp, Samuel Stuart, Rinol Alaj, Matthew F. Wipperman, Oren Levy, Joan A. O'Keefe   +16 more
wiley   +1 more source

Development of K-CORE: a web-based platform for integrated clinico-genomic analysis. [PDF]

Life Sci Alliance
Hwang J, Ahn JW, Lee JW, Jung SY, Lee EG, Chae H, Koo H, Cha H, Kim J, Kim K, Lee D, Park J, Kong SY, Choi KS, Kim HJ.   +14 more
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

Geranium: Multimodal Retrieval of Genomics Data Visualizations. [PDF]

IEEE Trans Vis Comput Graph
Nguyen HN, L'Yi S, Smits TC, Gao S, Zitnik M, Gehlenborg N.   +5 more
europepmc   +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

Histology-informed spatial domain identification through multi-view graph convolutional networks. [PDF]

PLoS Comput Biol
Zhang H, Chang J, Li Z, Sun Y, Hu P, Wang H, Yang H, Ren Y, Zhang X, Chen Z, Wong KW, Shao H.   +11 more
europepmc   +1 more source

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

EHA Recommendations for preconceptual and antenatal screening and prenatal diagnosis for hemoglobinopathies. [PDF]

Hemasphere
de Montalembert M, Cappellini MD, Iolascon A, de Franceschi L, Ömur E, Abi Saad M, Andolfo I, Bento C, Berghs M, Bonnet D, Glenthoj A, Gulbis B, Dolai TK, Lima J, Motta I, Russo R, Taher A, Tshilolo L, Almeida A, Rees D.   +19 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