Results 331 to 340 of about 1,946,862 (417)

Epigenome‐wide association study, meta‐analysis, and multiscore profiling of whole blood in Parkinson's disease

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objectives An increasing body of evidence indicates altered DNA methylation in Parkinson's disease, yet the reproducibility and utility of such methylation changes are largely unexplored. We aimed to further elucidate the role of dysregulated DNA methylation in Parkinson's disease and to evaluate the biomarker potential of methylation‐based ...
Ingeborg Haugesag Lie, Manuela M. X. Tan, Maren Stolp Andersen, Mathias Toft, Lasse Pihlstrøm   +4 more
wiley   +1 more source

Skin calcium deposits in primary familial brain calcification: A novel potential biomarker

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting
Aron Emmi, Giulia Bonato, Aleksandar Tushevski, Cinzia Bertolin, Francesco Cavallieri, Andrea Porzionato, Angelo Antonini, Leonardo Salviati, Miryam Carecchio   +8 more
wiley   +1 more source

Remarkably AT-rich genomic DNA from the anaerobic fungusNeocallimastix

, 1989
Alan G. Brownlee
openalex   +2 more sources

Genomics

, 2015
Billie-Jo Hardy, Sarah E. Ali Khan, Abdallah S. Daar   +2 more
openaire   +1 more source

Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The hereditary spastic‐ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline and improve this process using long‐read sequencing. Methods We developed a targeted long‐read sequencing strategy with the
Laura Ivete Rudaks, Igor Stevanovski, Dennis Yeow, Andre L. M. Reis, Sanjog R. Chintalaphani, Pak Leng Cheong, Hasindu Gamaarachchi, Lisa Worgan, Kate Ahmad, Michael Hayes, Andrew Hannaford, Samuel Kim, Victor S. C. Fung, Gabor M. Halmagyi, Andrew Martin, David Manser, Michel Tchan, Karl Ng, Marina L. Kennerson, Ira W. Deveson, Kishore Raj Kumar   +20 more
wiley   +1 more source

Correction: Advancing genetic improvement in the omics era: status and priorities for United States aquaculture. [PDF]

BMC Genomics
Andersen LK, Thompson NF, Abernathy JW, Ahmed RO, Ali A, Al-Tobasei R, Beck BH, Calla B, Delomas TA, Dunham RA, Elsik CG, Fuller SA, García JC, Gavery MR, Hollenbeck CM, Johnson KM, Kunselman E, Legacki EL, Liu S, Liu Z, Martin B, Matt JL, May SA, Older CE, Overturf K, Palti Y, Peatman EJ, Peterson BC, Phelps MP, Plough LV, Polinski MP, Proestou DA, Purcell CM, Quiniou SMA, Raymo G, Rexroad CE, Riley KL, Roberts SB, Roy LA, Salem M, Simpson K, Waldbieser GC, Wang H, Waters CD, Reading BJ, Aquaculture Genomics, Genetics and Breeding Workshop.   +46 more
europepmc   +1 more source

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

Review: Utility of mass spectrometry in rare disease research and diagnosis. [PDF]

NPJ Genom Med
Zhao T, Hock DH, Pitt J, Thorburn DR, Stroud DA, Christodoulou J.   +5 more
europepmc   +1 more source

Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Peripheral neuropathies (PNs) affect over 20 million individuals in the United States, manifesting as a wide range of sensory, motor, and autonomic nerve symptoms. While various conditions such as diabetes, metabolic disorders, trauma, autoimmune disease, and chemotherapy‐induced neurotoxicity have been linked to PN, approximately one‐third of
Julie Choi, Zitian Tang, Wendy Dong, Jenna Ulibarri, Elvisa Mehinovic, Simone Thomas, Ahmet Höke, Sheng Chih Jin   +7 more
wiley   +1 more source

Genomics insights of candidiasis: mechanisms of pathogenicity and drug resistance. [PDF]

Front Microbiol
Huang X, Dong Q, Zhou Q, Fang S, Xu Y, Long H, Chen J, Li X, Qin H, Mu D, Cai X.   +10 more
europepmc   +1 more source