Results 201 to 210 of about 2,058,071 (297)

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, Koji Fujita, Konoka Tachibana, Ryosuke Miyamoto, Hiroki Yamazaki, Yusuke Osaki, Nazere Keyoumu, Yuki Kuwano, Nobutoshi Morimoto, Suzuran Saito, Eriko Koshimizu, Yoichi Otomi, Kenji Ishibashi, Masafumi Harada, Naomichi Matsumoto, Hiroyuki Morino, Yuishin Izumi   +18 more
wiley   +1 more source

Metagenome-assembled genomes from a population-based cohort uncover novel gut species and within-species diversity, revealing prevalent disease associations. [PDF]

mSystems
Pantiukh K, Krigul KL, Aasmets O, Org E.
europepmc   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Prevalence and activity of class II microcins in <i>Serratia marcescens</i> strains by isolation source. [PDF]

Appl Environ Microbiol
Parker JK, Toursarkissian LP, Chang JR, Sanchez-Paiva S, O'Donnell AC, Badmus HO, Nunez MP, Uhlemann A-C, Davies BW.   +8 more
europepmc   +1 more source

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

Multiple Intracranial <i>Nocardia brevicatena</i> Abscesses in a Patient with a Previous History of Tuberculosis: A Case Report. [PDF]

Infect Drug Resist
Li Z, Zhang Y, Zhang X, Li H, Gong X, Zhang Q, Xu J, Cheng X, Wang J, Wang T, Zhang Q, Yang Q, Zhao C.   +12 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

Xenbase: 25 years of integrating molecular and biomedical data from Xenopus. [PDF]

Genetics
Chu S, Bell AJ, Lotay V, Ly N, Pells TJ, Kwon T, Agalakov S, Ponferrada V, Lenz C, James-Zorn C, Arshinoff B, Segerdell E, Wang D, Thorner K, Wasmuth JD, Fisher M, Karimi K, Zorn AM, Vize PD.   +18 more
europepmc   +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

Herpesvirus genome integration in whole-genome sequences of dementia and control cohorts. [PDF]

Alzheimers Dement
Piotrowski SL, Allnutt MA, Johnson K, Tanaka T, Ferrucci L, Morris H, Hardy J, PROSPECT Consortium, Ryten M, United Kingdom Brain Expression Consortium (UKBEC), Logroscino G, Troncoso J, Beach TG, Serrano GE, Cruchaga C, Dickson DW, Ross OA, Chiò A, International LBD Genomics Consortium, International ALS Genomics Consortium, Houlden H, American Genome Center, Dalgard CL, Ding J, Gibbs JR, Traynor BJ, Scholz SW, Jacobson S.   +27 more
europepmc   +1 more source