Results 151 to 160 of about 453,178 (226)

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

Exploring Phylogenetic Signal in Multivariate Phenotypes by Maximizing Blomberg's K. [PDF]

Syst Biol
Mitteroecker P, Collyer ML, Adams DC.
europepmc   +1 more source

Brain Characteristics in Patients With Myelin Oligodendrocyte Glycoprotein Antibody‐Associated Disorder by 7.0 Tesla MRI

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD) can radiographically mimic multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD). The disease hallmarks cortical lesion, central vein sign (CVS) and paramagnetic rim lesions identified in MS have not yet been comprehensively investigated in ...
Lei Su, Joseph Kuchling, Chenyang Gao, Thoralf Niendorf, Carsten Finke, Zhe Zhang, Ai Guo, Jing Jing, De‐Cai Tian, Yu‐Jing Li, Mengting Zhang, Xiaoyu Shi, Xinyao Liu, Huabing Wang, Yaou Liu, Claudia Chien, Michael Levy, Yunyun Duan, Friedemann Paul, Fu‐Dong Shi   +19 more
wiley   +1 more source

Towards a unifying phylogenomic framework for tailed phages. [PDF]

PLoS Genet
Weinheimer AR, Ha AD, Aylward FO.
europepmc   +1 more source

Index Volume 23 [PDF]

, 2007

core   +1 more source

EEG Response to Sedation Interruption Complements Behavioral Assessment After Severe Brain Injury

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate assessment of the level of consciousness and potential to recover in patients with severe brain injury underpins crucial decisions in the intensive care unit but remains a major challenge for the clinical team. The neurological wake‐up test is a widely used assessment tool. However, many patients' behavioral responses during
Charlotte Maschke, Loretta Norton, Catherine Duclos, Miriam Han, Kira Dolhan, Geoffrey Laforge, Allison Frantz, Xiaoyu Wang, Hassan Al‐Hayawi, Tianyu Zhang, Raphaël Lavoie, Adrian M. Owen, Stefanie Blain‐Moraes   +12 more
wiley   +1 more source

Prolonged persistence of mutagenic DNA lesions in somatic cells. [PDF]

Nature
Spencer Chapman M, Mitchell E, Yoshida K, Williams N, Fabre MA, Ranzoni AM, Robinson PS, Kregar LD, Wilk M, Boettcher S, Mahbubani K, Saeb Parsy K, Gowers KHC, Janes SM, Ng SWK, Hoare M, Green AR, Vassiliou GS, Cvejic A, Manz MG, Laurenti E, Martincorena I, Stratton MR, Nangalia J, Coorens THH, Campbell PJ.   +25 more
europepmc   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

The research contribution of the Schistosomiasis Collection at the Natural History Museum (SCAN): highlights, challenges and future directions. [PDF]

Infect Dis Poverty
Emery AM, Rabone M, Landeryou T, Allan F, Rollinson D.   +4 more
europepmc   +1 more source

Chromsome Phylogeny [PDF]

Proceedings of the National Academy of Sciences, 1938
openaire   +3 more sources