Results 141 to 150 of about 427,156 (310)

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

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

A new method of N to C sequential ligation using thioacid capture ligation and native chemical ligation

, 2018
Sequential peptide ligation strategy becomes more and more important in large protein or long peptides chemical synthesis due to the limited peptide/protein size obtained by solid phase synthesis of individual peptides or even one-step peptide ligation ...
Lei Liu, Xiaohong Zhang, Hou, Wen, Liu, Chuanfa, Wen Hou, Chuanfa Liu, Liu, Lei, Zhang, Xiaohong   +7 more
core   +1 more source

The Price of Precision: A Critical Review of Molecular Diagnostics in Glioma, From Guidelines to Global Disparities

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Gliomas have undergone a profound redefinition over the past decade, transitioning from morphology‐based entities to biologically coherent diseases defined by molecular alterations. The 2021 WHO Classification of Tumors of the Central Nervous System and its 2022 update formalize this shift, establishing integrated diagnosis as the global ...
Maria Guarnaccia, Sebastiano Cavallaro
wiley   +1 more source

Native Chemical Ligation at Glutamine

, 2016
The desulfurization reaction introduced by Yan and Dawson as a postnative chemical ligation step greatly expanded the scope of ligation chemistry beyond Xaa-Cys (Xaa is any amino acid) by making ligation at Xaa-Phe, Xaa-Val, Xaa-Lys, Xaa-Leu, Xaa-Thr ...
Subramanian Vedhanarayanan Karthikeyan (2040766), Peter Siman (2103049), Ashraf Brik (1307640)   +2 more
core   +1 more source

Evaluation of Dried Plasma Spot‐Based Quantification of Glial Fibrillary Acidic Protein as a Disease‐Associated Biomarker in Neuromyelitis Optica Spectrum Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the diagnostic accuracy of glial fibrillary acidic protein (GFAP) measured in dried plasma spots versus conventional plasma‐ and serum‐GFAP testing for assessment of disease severity in aquaporin‐4 immunoglobulin G–positive neuromyelitis optica spectrum disorder (AQP4‐IgG+ NMOSD).
Felix Wohlrab, Evelyn Alvarez, Roua Hamdi, Bingqing Zhang, Hayeun Ji, Niyati Jhaveri, Patrick Schindler, Pedro Sanchez, Pia S. Sperber, Tanja Schmitz‐Hübsch, Frederike C. Oertel, Nisa Vorasoot, Najib Kissani, Falko Böhringer, Jens Kuhle, Anne‐Katrin Pröbstel, Xiao‐Jun Ma, Péter Körtvelyessy, Patrick Waters, Friedemann Paul   +19 more
wiley   +1 more source

the Staudinger Ligation as a bioconjugation method

reservedLa Staudinger Ligation è un protocollo di sintesi organica molto utile che ha trovato il suo utilizzo nella chimica di coniugazione, grazie alle condizioni di reazione blande e compatibili con i sistemi biologici complessi.
COVILI, GIORGIA
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Generative AI Utilization and Perspectives Among Reproductive‐Age Women with Systemic Autoimmune and Rheumatic Diseases

Arthritis Care &Research, Accepted Article.
Objective Reproductive‐age women with systemic autoimmune and rheumatic diseases (SARDs) have unique information needs related to their SARDs and reproductive health. We sought to understand their use of and receptivity to current and hypothetical generative artificial intelligence (AI) tools for health information‐seeking. Methods We conducted a cross‐
Mariam Arif, Catherine Wright, Samantha Rodriguez, Sarah Graves, Tamar Krishnamurti, Mehret Birru Talabi   +5 more
wiley   +1 more source

Is There Still a Role for Sterilization by Tubal Ligation as a Contraceptive Method? [PDF]

Norman D Goldstuck Department of Obstetrics and Gynaecology, Faculty of Medicine and Health Sciences, University of Stellenbosch, Tygerberg Hospital Francie van Zyl Dr, Cape Town, South AfricaCorrespondence: Norman D Goldstuck, Email nahumzh@yahoo ...
Goldstuck ND
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