Results 161 to 170 of about 1,622,414 (348)

Genetic history and biological adaptive landscape of the Tujia people inferred from shared haplotypes and alleles

Human Genomics
Background High-quality genomic datasets from under-representative populations are essential for population genetic analysis and medical relevance. Although the Tujia are the most populous ethnic minority in southwestern China, previous genetic studies ...
Jing Chen, Mengge Wang, Shuhan Duan, Qingxin Yang, Yan Liu, Mengyang Zhao, Qiuxia Sun, Xiangping Li, Yuntao Sun, Haoran Su, Zhiyong Wang, Yuguo Huang, Jie Zhong, Yuhang Feng, Xiaomeng Zhang, Guanglin He, Jiangwei Yan   +16 more
doaj   +1 more source

Nationwide Survey of Atopic Myelitis and Plexin D1‐Immunoglobulin G‐Related Pain

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To elucidate the features of plexin D1‐immunoglobulin (Ig)G‐associated neuropathic pain and its relationship to atopic myelitis (AM) in a nationwide Japanese survey. Methods A preliminary survey questionnaire was sent to 1574 selected departments (neurology and pediatrics/pediatric neurology) to explore the numbers of AM and plexin ...
Jun‐ichi Kira, Xu Zhang, Takayuki Fujii, Mikio Mitsuishi, Miho Ushijima, Sato Yoshidomi, Ayako Sakoda, Tomohiro Imamura, Satoshi Kuwabara, Noriko Isobe, Yuri Nakamura   +10 more
wiley   +1 more source

Population genetic admixture and evolutionary history in the Shandong Peninsula inferred from integrative modern and ancient genomic resources

BMC Genomics
Background Ancient northern East Asians (ANEA) from the Yellow River region, who pioneered millet cultivation, play a crucial role in understanding the origins of ethnolinguistically diverse populations in modern China and the entire landscape of deep ...
Haoran Su, Mengge Wang, Xiangping Li, Shuhan Duan, Qiuxia Sun, Yuntao Sun, Zhiyong Wang, Qingxin Yang, Yuguo Huang, Jie Zhong, Jing Chen, Xiucheng Jiang, Jinyue Ma, Ting Yang, Yunhui Liu, Lintao Luo, Yan Liu, Junbao Yang, Gang Chen, Chao Liu, Yan Cai, Guanglin He   +21 more
doaj   +1 more source

Lessons Learned: Quality Analysis of Optical Coherence Tomography in Neuromyelitis Optica

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Optical coherence tomography (OCT)‐derived retina measurements are markers for neuroaxonal visual pathway status. High‐quality OCT scans are essential for reliable measurements, but their acquisition is particularly challenging in eyes with severe visual impairment, as often observed in neuromyelitis optica spectrum disorders ...
Hadi Salih, Sara Samadzadeh, Charlotte Bereuter, Seyedamirhosein Motamedi, Claudia Chien, Pablo Villoslada, Hadas Stiebel‐Kalish, Nasrin Asgari, Yang Mao‐Draayer, Marius Ringelstein, Joachim Havla, Marco Aurélio Lana Peixoto, Ho Jin Kim, Jacqueline Palace, Maria Isabel Leite, Srilakshmi M. Sharma, Fereshteh Ashtari, Rahele Kafieh, Lekha Pandit, Orhan Aktas, Philipp Albrecht, Letizia Leocani, Itay Lotan, Sasitorn Siritho, Jérôme de Seze, Romain Marignier, Caroline Froment Tilikete, Denis Bernardi Bichuetti, Ivan Maynart Tavares, Ayse Altintas, Anu Jacob, Saif Huda, Ibis Soto de Castillo, Lawrence J. Cook, Michael R. Yeaman, Axel Petzold, Alexander U. Brandt, Friedemann Paul, Frederike C. Oertel, Hanna G. Zimmermann, with the Guthy Jackson Charitable Foundation—International Clinical Consortium and CROCTINO Collaborators   +40 more
wiley   +1 more source

Successfully Navigating Food and Drug Administration Orphan Drug and Rare Pediatric Disease Designations for AAV9-hPCCA Gene Therapy: The National Institutes of Health Platform Vector Gene Therapy Experience

, 2023
Richa Madan Lomash, Oleg A. Shchelochkov, Randy J. Chandler, Charles P. Venditti, Anne Pariser, Elizabeth A. Ottinger, Averion Gilberto V., Balakrishnan Krishna, Bönnemann Carsten G., Brooks Philip J., Burden Steven J., Campbell Eggerton, C. Catherine, Choi Eun-Young, Driscoll Claire, Dukhanina Oksana, Ferry Susan, Foley A. Reghan, Hauserman Janelle Geist, Lina Li, Lo C, M Venkata, Manoli Irini, Mendoza Christopher, Oury Julien, Patel Kinjal D, Portero Deanna, Portilla Lili, Rooney Jachinta, Saade Dimah, Sloan Jennifer L., Tambe Mitali, Terse Pramod, Todd Joshua, Toney London, Van Ryzin Carol, Stan Rodica, Vepa Sury, Wagner Erik, Wang Amy, Xin Xu, Zou Yaqun, Zou Yaqun   +42 more
openalex   +1 more source

Angiosarcoma Secondary to a Paget’s Disease: A Rare Clinical Case With 5 Years of Follow-Up and Review of the Literature [PDF]

, 2020
Michela Spinelli, Andrea Di Bernardo, Fabio Sciancalepore, Fabio Giardina, Michela Spinelli, Matteo G. Lo Duca, Primo Andrea Daolio, Stefano Bastoni   +7 more
openalex   +1 more source

Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan, John R. Mills, Paulina Vargas, Naveen K. Paramasivan, Connie E. Lesnick, Eati Basal, Surendra Dasari, James P. Fryer, Shannon R. Hinson, Joseph Laporta, Amy Espinal, Dennis Fitzgerald, Carolina Garcia, Anna E. Morenkova, Paola Pergami, Anna Shah, Andrew Knight, Reghann LaFrance Corey, Vanda A. Lennon, Anastasia Zekeridou, Sean J. Pittock, Divyanshu Dubey, Andrew McKeon   +22 more
wiley   +1 more source

Hybrid AI Models for Rare Disease Diagnosis [PDF]

T Gowtham
openalex   +1 more source

Real‐World Investigation of Satralizumab in Patients With Neuromyelitis Optica Spectrum Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Satralizumab, a monoclonal antibody targeting the interleukin‐6 receptor, has demonstrated efficacy in clinical trials for neuromyelitis optica spectrum disorder (NMOSD). However, its real‐world effectiveness and safety compared to conventional immunosuppressive therapies remain uncertain.
Li‐Tsung Lin, Hui‐An Lin, Sheng‐Feng Lin   +2 more
wiley   +1 more source

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source