Results 161 to 170 of about 66,787 (287)

RNA‐Based Therapies for Inherited Metabolic Disorders

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri   +5 more
wiley   +1 more source

Metastatic Spine Disease Alters Vertebral Load‐To‐Strength Ratios in Cancer Patients Compared to Healthy Individuals

open access: yesJOR SPINE, Volume 9, Issue 1, March 2026.
This study investigated the effect of spinal bone metastasis (BM) on the biomechanical environment of the spine through estimates of load, strength, and the load‐to‐strength ratio (LSR). Our study suggests that task‐specific differences related to cancer, lesion type, and vertebral location differentially affect the biomechanical environment of the ...
Dennis E. Anderson   +13 more
wiley   +1 more source

Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2‐ and HINT1‐Related Disease

open access: yesJournal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims Differentiating hereditary axonal polyneuropathies caused by distinct gene variants remains a clinical challenge. This comparative case study of DNAJB2‐ and HINT1‐related neuropathies aimed to broaden the phenotypic spectrum associated with these genes and to explore non‐motor symptoms and quality of life (QoL) in affected ...
Bogdan Bjelica   +8 more
wiley   +1 more source

Muscle fibre type shift in COPD: Adaptive, maladaptive or a bit of both?

open access: yes
Experimental Physiology, EarlyView.
Jacob Peter Hartmann   +2 more
wiley   +1 more source

Clinical profiles associated with rapidly progressive interstitial lung disease in antisynthetase syndrome: A multicentric cohort study (TYPASS study)

open access: yesJournal of Internal Medicine, Volume 299, Issue 3, Page 365-380, March 2026.
Abstract Objectives To assess factors associated with rapidly progressive interstitial lung disease (ILD) (RP‐ILD) at time of ILD diagnosis in a multicentric retrospective cohort study of antisynthetase syndrome (ASyS). We used a complementary unsupervised approach, hierarchical clustering, to delineate distinct phenotypes among ASyS patients with ILD.
Maxime Billotte   +16 more
wiley   +1 more source

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