Results 181 to 190 of about 192,375 (290)

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Virolithopanspermia: Might viruses be transported in rocks through space? [PDF]

PLoS Pathog
Bushman FD.
europepmc   +1 more source

Calcium modulating ligand confers risk for Parkinson's disease and impacts lysosomes

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Several genetic loci known to confer risk for Parkinson's disease (PD) function in lysosomal pathways. We systematically screened common variants linked to PD risk by genome‐wide association studies (GWAS) for impact on cerebrospinal fluid (CSF) proteins reflecting lysosomal function.
Hanwen Zhang, Daniel Kargilis, Thomas Tropea, John Robinson, Junchao Shen, Eliza M. Brody, Ann Brinkmalm, Simon Sjödin, Adama J. Berndt, Marc Carceles‐Cordon, EunRan Suh, Vivianna M. Van Deerlin, Kaj Blennow, Daniel Weintraub, Edward B. Lee, Henrik Zetterberg, Alice S. Chen‐Plotkin   +16 more
wiley   +1 more source

Innovative Polarimetric Interferometric Synthetic Aperture Radar Land Cover Classification: Integrating Power, Polarimetric, and Interferometric Information for Higher Accuracy. [PDF]

Sensors (Basel)
Xu Y, Liu A, Lin Y, Wang M, Huang L, Huang Z.   +5 more
europepmc   +1 more source

Recurrent Cometary Activity in Near-Earth Object (3552) Don Quixote

, 2020
Michael Mommert, Joseph L. Hora, David E. Trilling, N. Biver, Kacper Wierzchoś, Olga Harrington Pinto, Jessica Agarwal, Yoonyoung Kim, Andrew McNeill, M. Womack, Matthew M. Knight, David Polishook, Nicholas Moskovitz, Michael S. P. Kelley, H. A. Smith   +14 more
openalex   +1 more source

Relationship of cognitive decline with glucocerebrosidase activity and amyloid‐beta 42 in DLB and PD

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Dementia with Lewy bodies (DLB) and Parkinson's disease (PD) share clinical, pathological, and genetic risk factors, including GBA1 and APOEε4 mutations. Biomarkers associated with the pathways of these mutations, such as glucocerebrosidase enzyme (GCase) activity and amyloid‐beta 42 (Aβ42) levels, may hold potential as predictive ...
Maria Camila Gonzalez, Linn Oftedal, Johannes Lange, Diego Alejandro Tovar‐Rios, Ole‐Bjørn Tysnes, Claire Paquet, Marta Marquié, Mercè Boada, Daniel Alcolea, Konrad Rejdak, Ewa Papuc, Jakub Hort, Cristian Falup‐Pecurariu, Dag Aarsland, Guido Alves, Jodi Maple‐Grødem   +15 more
wiley   +1 more source

Biological, Equilibrium and Photochemical Signatures of C, N and S Isotopes in the Early Earth and Exoplanet Atmospheres. [PDF]

Life (Basel)
Lyons JR.
europepmc   +1 more source

Directed energy active illumination for near-Earth object detection

, 2014
Jordan Riley, Philip Lubin, Gary B. Hughes, Hugh O’Neill, Peter Meinhold, Jonathan Y. Suen, Johanna Bible, Isabella E. Johansson, Janelle Griswold, Brianna Cook   +9 more
openalex   +2 more sources

Evidence of blood–brain barrier dysfunction and CSF immunoglobulin synthesis in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objectives This study sought to evaluate proteomic, metabolomic, and immune signatures in the cerebrospinal fluid of individuals with Down Syndrome Regression Disorder (DSRD). Methods A prospective case–control study comparing proteomic, metabolomic, and immune profiles in individuals with DSRD was performed.
Jonathan D. Santoro, Neetha Paul Eduthan, Mellad M. Khoshnood, Saba Jafarpour, Natalie K. Boyd, Benjamin N. Vogel, Lina Nguyen, Lilia Kazerooni, Eleanor Britton, Hannah R. Lyford, Matthew D. Galbraith, Angela L. Rachubinski, Joaquin M. Espinosa   +12 more
wiley   +1 more source

Earliest evidence for systematic use of ultrahigh carbon steel in the ancient Aegean in the Archaic Milesia. [PDF]

PLoS One
Güder Ü, Mokrišová J, Verčík M, Yalçın Ü.   +3 more
europepmc   +1 more source