Results 101 to 110 of about 421,156 (296)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Special Section Guest Editorial: Celebrating the Exponential Growth of Optoacoustic/Photoacoustic Imaging [PDF]

, 2019
Guest editors introduce contributors to the Special Section Celebrating the Exponential Growth of Optoacoustic/Photoacoustic Imaging. We are pleased to introduce the contributions to this JBO Special Section entitled “Celebrating the Exponential ...
Anastasio, Mark, Beard, Paul, Oraevsky, Alexander A., Wang, Lihong V.   +3 more
core   +1 more source

PaperRobot: Incremental Draft Generation of Scientific Ideas

, 2019
We present a PaperRobot who performs as an automatic research assistant by (1) conducting deep understanding of a large collection of human-written papers in a target domain and constructing comprehensive background knowledge graphs (KGs); (2) creating ...
Bansal, Mohit, Huang, Lifu, Ji, Heng, Jiang, Zhiying, Knight, Kevin, Luan, Yi, Wang, Qingyun   +6 more
core   +1 more source

Future Challenges of Biomedical Informatics for Translational Medicine

, 2013
There are many challenges for Biomedical Informatics (BMI) to meet the promises of Translational Medicine. Several of the challenges have to do with the re-use of clinical data to progress towards 4P Medicine (personalized, preventive, participatory and predictive) and using epidemiology and clinical research as well as the translation of data and ...
López-Alonso Victoria, Hermosilla-Gimeno Isabel, López-Campos Guillermo, Angel Mayer Miguel, INBIOMEDvision Consortium   +4 more
openaire   +3 more sources

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Serum metabolic and microbial profiling yields insights into promoting effect of tryptophan‐related metabolites for health longevity in centenarians

iMeta
A better understanding of the characteristic serum metabolites and microbiota from the gut and oral cavity in centenarians could contribute to elucidating the mutual connections among them and would help provide information to achieve healthy longevity ...
Xiaorou Qiu, Chao Mu, Jie Hu, Jiaxin Yu, Wenbo Tang, Yueli Liu, Yongmei Huang, Yixian Lu, Peihua Tang, Jingzhen Wu, Zixuan Huang, Xianlin Mei, Huaguo Xiang, Hao Lin, Yi Qi, Hui Luo, Xuemeng Li   +16 more
doaj   +1 more source

Analysis of cognitive framework and biomedical translation of tissue engineering in otolaryngology. [PDF]

Sci Rep, 2023
Padilla-Cabello J, Moral-Munoz JA, Santisteban-Espejo A, Velez-Estevez A, Cobo MJ, Martin-Piedra MA.   +5 more
europepmc   +1 more source

Robust similarity registration technique for volumetric shapes represented by characteristic functions

, 2014
This paper proposes a novel similarity registration technique for volumetric shapes implicitly represented by their characteristic functions (CFs). Here, the calculation of rotation parameters is considered as a spherical crosscorrelation problem and the
Bennett, Michael, Havelock, Tom, Liu, Wanmu, Mahmoodi, Sasan   +3 more
core   +1 more source

A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento, Daniela F. Santos, Tuane C. R. G. Vieira, Tiago F. Outeiro   +3 more
wiley   +1 more source