Results 321 to 330 of about 8,013,600 (393)

Gene amplification in cultured cells.

Journal of Biological Chemistry, 1988
openaire   +3 more sources

Alpha‐synuclein RT‐QuIC assay in gastroduodenal and skin biopsies of Parkinson disease patients

Annals of Clinical and Translational Neurology, Volume 12, Issue 3, Page 637-642, March 2025.
Abstract In this study, we compared the value of pathological alpha‐synuclein (αSyn) seed amplification assay (SAA) in gastric and duodenal biopsies with skin biopsies in Parkinson disease (PD) patients with different disease duration. The accuracy of αSyn SAA was 87.7% in skin, 67.4% in duodenum, and 80.0% in gastric biopsies, with significantly ...
Aron Emmi, Angela Mammana, Michele Sandre, Simone Baiardi, Luca Weis, Marcello Rossi, Franco Magliocchetti, Edoardo Savarino, Francesco Paolo Russo, Andrea Porzionato, Miryam Carecchio, Marta Campagnolo, Angelo Antonini, Piero Parchi   +13 more
wiley   +1 more source

Amplification and Nucleotide Sequences of Ribosomal Protein and 16 S rRNA Genes of Mycoplasma-like Organism Associated with Paulownia Witches' Broom.

, 1994
Nobuyuki Yoshikawa, Hitoshi Nakamura, Norio Sahashi, Takanori Kubono, K. Katsube, Tsugio Shôji, Tsuyoshi Takahashi   +6 more
openalex   +2 more sources

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

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

Blood exosome connexins and small RNAs related to demyelinating disease activity

Annals of Clinical and Translational Neurology, Volume 12, Issue 3, Page 538-555, March 2025.
Abstract Objectives To assess blood exosome (Ex)‐connexin (Cx)43 (encoded by GJA1) and its truncated isoforms in multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD), which show distinct alterations in astroglial Cx43. Methods Serum Exs from 48 patients with MS (34 relapsing–remitting, 14 secondary‐progressive), 35 with NMOSD, 20 ...
Guzailiayi Maimaitijiang, Jun‐ichi Kira, Yuri Nakamura, Mitsuru Watanabe, Ezgi Ozdemir Takase, Satoshi Nagata, Ayako Sakoda, Xu Zhang, Katsuhisa Masaki, Ryo Yamasaki, Noriko Isobe, Hiroo Yamaguchi, Tomohiro Imamura   +12 more
wiley   +1 more source

Novel pathogenic mtDNA variants in Chinese children with neurological mitochondrial disorders

Annals of Clinical and Translational Neurology, Volume 12, Issue 3, Page 586-601, March 2025.
Abstract Objective Pathogenic variations in the mitochondrial genome are tightly linked to neurological mitochondrial disorders in children. However, the mutation spectrum of mitochondrial DNA (mtDNA) in the Chinese population remains incomplete. Therefore, the primary objective of our study was to comprehensively characterize pathogenic mtDNA variants
Zhimei Liu, Kexin Pan, Mingzhao Wang, Yijun Jin, Wenxin Yang, Keer Chen, Chaolong Xu, Xin Duan, Ying Zou, Changhong Ren, Lifang Dai, Suzhou Zhao, Ya Wang, Lijun Shen, Fang Fang, Hezhi Fang   +15 more
wiley   +1 more source

Clinical impact and safety of brain biopsy in unexplained central nervous system disorders: a real‐world cohort study

Annals of Clinical and Translational Neurology, Volume 12, Issue 4, Page 792-804, April 2025.
Abstract Objective A substantial part of central nervous system (CNS) disorders remains unexplained, despite various new and minimally invasive diagnostic techniques. Within this rapidly developing diagnostic field, the precise role of brain biopsy is unknown.
Robin W. van Steenhoven, Saan Salih, Juna M. de Vries, Ide Smets, Rob M. Verdijk, Mayke Gardeniers, Jeroen Kerstens, Juliette Brenner, Yvette S. Crijnen, Marjolein Geurts, Jacoline E. C. Bromberg, Corine H. GeurtsvanKessel, Peter A. E. Sillevis Smitt, Rutger K. Balvers, Maarten J. Titulaer   +14 more
wiley   +1 more source

ALS plasma biomarkers reveal neurofilament and pTau correlate with disease onset and progression

Annals of Clinical and Translational Neurology, Volume 12, Issue 4, Page 714-723, April 2025.
Abstract Objective We performed a pilot screen to assess the utility of the NULISA™ (Nucleic‐acid‐Linked Immuno‐Sandwich Assay) platform in the identification of amyotrophic lateral sclerosis (ALS) biomarkers. Methods Plasma from 86 individuals (48 ALS, 18 asymptomatic C9orf72 repeat expansion carriers (AsymC9), and 20 healthy controls) was analyzed ...
Eleanor V. Thomas, Changee Han, Woo Jae Kim, Seneshaw Asress, Yingjie Li, Jennifer A. Taylor, Marla Gearing, Christina N. Fournier, Zachary T. McEachin, Nicholas T. Seyfried, Jonathan D. Glass   +10 more
wiley   +1 more source

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

Annals of Clinical and Translational Neurology, Volume 12, Issue 4, Page 832-841, April 2025.
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