Results 181 to 190 of about 14,538,270 (379)

Systemic T Cell Receptor Profiling Reveals Adaptive Immune Activation and Potential Immune Signatures of Diagnosis and Brain Atrophy in Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy is increasingly associated with immune dysregulation and inflammation. The T cell receptor (TCR), a key mediator of adaptive immunity, shows repertoire alterations in various immune‐mediated diseases. The unique TCR sequence serves as a molecular barcode for T cells, and clonal expansion accompanied by reduced overall TCR ...
Yong‐Won Shin, Sang Bin Hong, Yong Woo Shin, Inpyeong Hwang, Jaeseong Oh, Jihyeon Choi, Narae Kim, Jangsup Moon, Keun‐Hwa Jung, Kyung‐Il Park, Ki‐Young Jung, Kon Chu, Sang Kun Lee   +12 more
wiley   +1 more source

Mutant forms of Factor IX [PDF]

, 1977
H Roberts, Kyung Soo Chung, Jonathan C. Goldsmith   +2 more
openalex   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Estudio familiar de las hemofilias A y B: 5 años de experiencia en la detección de portadoras Family study of hemophilia A and B: 5 years of experience in carrier detection

Revista Cubana de Hematología, Inmunología y Hemoterapia, 2010
La hemofilia se caracteriza por ser una enfermedad congénita del trastorno de la coagulación y constituye un desorden recesivo ligado al cromosoma X. El estudio molecular se realiza por estudios indirectos por ser causada por mutaciones heterogéneas en ...
Yaixa Piloto Roque, Teresa Collazo Mesa, Manuel Gómez Martínez, Yadira Hernández Pérez, Yulemi Gónzalez Quesada, Ilienis Giraldo Rico, Lídice Reyes Navarro   +6 more
doaj  

Detection of Acquired Inhibitors of Factor IX with Precipitating Rabbit Antisera Against Factor IX [PDF]

, 1977
K.H. Örstavik, I M Nilsson
openalex   +1 more source

Systemic delivery of factor IX messenger RNA for protein replacement therapy

Proceedings of the National Academy of Sciences of the United States of America, 2017
Suvasini Ramaswamy, Nina Tonnu, K. Tachikawa, P. Limphong, J. Vega, P. Karmali, P. Chivukula, I. Verma   +7 more
semanticscholar   +1 more source

Annual 12‐Week Dosing Gap of Natalizumab: Clinical Efficacy, Blood Biomarkers, and CSF Cell Composition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Natalizumab (NTZ) is a highly effective therapy for multiple sclerosis (MS); however, its use is limited by the risk of a rare potentially severe opportunistic brain infection, progressive multifocal leukoencephalopathy (PML). Alternative dosing strategies are evaluated to reduce PML risk while still maintaining efficacy, which ...
Regina Berkovich, Tilman Schneider‐Hohendorf, Eric Baetscher, Evan L. Riddle, Marie Deffner, Emily Katsnelson, Janine Ferrant‐Orgettas, Julie Czerkowicz, John Anderson, Susan E. Goelz, Nicholas Schwab   +10 more
wiley   +1 more source

A Dutch family with moderately severe hemophilia B (Factor IX_Heerde) has a missense mutation identical to that of factor lX_{London 2} [PDF]

, 1989
S R Poort, E Briët, R M Bertina, P H Reitsma   +3 more
openalex   +1 more source

Low‐factor consumption for major surgery in haemophilia B with long‐acting recombinant glycoPEGylated factor IX

Haemophilia, 2017
Miguel A. Escobar, Ramin Tehranchi, F. A. Karim, U. Çalişkan, P. Chowdary, T. Colberg, Paul Giangrande, A. Giermasz, M. E. Mancuso, M. Serban, Woei Tsay, Johnny Mahlangu   +11 more
semanticscholar   +1 more source

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Chikashi Yano, Takahiro Hobara, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +13 more
wiley   +1 more source