Results 121 to 130 of about 613,172 (337)

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Chika Matsuoka, Toru Yamashita, Takashi Kimura, Ayako Miyazaki, Chinatsu Kinjo, Kenji Yokochi, Nanami Yamanaka, Nozomu Matsuda, Tomoki Suichi, Yoshiyuki Hanaoka, Haruka Kojima, Kenichi Todo, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +27 more
wiley   +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

Common Allergens and Immune Responses Associated with Allergic Rhinitis in China

Journal of Asthma and Allergy, 2023
Qirong Li,1,2,* Xinyi Zhang,2,* Qiang Feng,2,* Hengzong Zhou,2,* Chaoyang Ma,3 Chao Lin,4 Dongxu Wang,2 Jianmei Yin1 1Department of Otolaryngology-Head and Neck Surgery, the First Hospital of Jilin University, Changchun, People’s Republic
Li Q, Zhang X, Feng Q, Zhou H, Ma C, Lin C, Wang D, Yin J   +7 more
doaj  

Raised serum immunoglobulin E in Wegener's granulomatosis. [PDF]

, 1976
Doyt L. Conn, G.J. Gleich, Richard A. DeRemee, Timothy J. McDonald   +3 more
openalex   +1 more source

Growth Differentiation Factor 15 Elevation in the Central Nervous System Is Associated With Failure to Thrive in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann, Michelle M. Sonsalla, Cora Luzinski, Fernando Zacahua, David A. Harris, Dudley W. Lamming, Albee Messing   +6 more
wiley   +1 more source

Clinical Characteristics and Outcomes of Early‐Onset Versus Late‐Onset LGI1‐Antibody Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Leucine‐rich glioma‐inactivated 1 antibody (LGI1‐Ab) encephalitis predominantly affected older individuals, but has also been reported in younger patients. However, the demographic, clinical, and prognostic characteristics of early‐onset LGI1‐Ab encephalitis have yet to be systematically elucidated. This study aims to systematically
Yu Kong, Shasha Yu, Jing Zhang, Yu Zu, Yujing Zhang, Jing Lv, Xuyang Cao, Xuedan Feng   +7 more
wiley   +1 more source

The MMP‐9/TIMP‐1 Ratio and Concentrations of Osteopontin Are Elevated in Cerebrospinal Fluid of People With Multiple Sclerosis and Decrease After Autologous Hematopoietic Stem Cell Transplantation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To evaluate the utility of cerebrospinal fluid (CSF) biomarkers—matrix metalloproteinase‐9 (MMP‐9), tissue inhibitor of metalloproteinases‐1 (TIMP‐1), the MMP‐9/TIMP‐1 ratio, and osteopontin (OPN)—as indicators of blood–brain barrier (BBB) integrity and disease activity in people with relapsing–remitting multiple sclerosis (pwMS ...
Ivan Pavlovic, Ida Erngren, Kim Kultima, Anders Larsson, Malin Müller, Anna Wiberg, Joachim Burman   +6 more
wiley   +1 more source

Absence of serum immunoglobulin E in newborns: Heterogeneity in time of synthesis in infants [PDF]

, 1971
Michael G. Bazaral, H.Alice Orgel, Robert N. Hamburger   +2 more
openalex   +1 more source

The Carcinoembryonic Antigen Gene Family [PDF]

, 1988
The molecular cloning of carcinoembryonic antigen (CEA) and several cross-reacting antigens reveals a basic domain structure for the whole family, which shows structural similarities to the immunoglobulin superfamily.
Thompson, John A., Zimmermann, Wolfgang
core  

Digital behavioral therapy improves outcome in patients with axial spondyloarthritis and persistent pain: a randomized controlled trial

Arthritis Care &Research, Accepted Article.
Objectives Axial spondyloarthritis (axSpA) is often associated with persistent pain despite effective anti‐inflammatory treatment. Digital health applications (DHA) provide innovative approaches to address multidimensional aspects of persistent pain through psychological and behavioral strategies. The aim of this study was to assess the impact of a DHA
David Kiefer, Yade Sonkaya, Dietmar Krause, Markus Voglau, Bernhard Mintrop, Imke Redeker, Xenofon Baraliakos, Uta Kiltz   +7 more
wiley   +1 more source