Results 131 to 140 of about 87,063 (285)
Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.
Brain : a journal of neurology, 2019 Charcot-Marie-Tooth disease is a hereditary motor and sensory neuropathy exhibiting great clinical and genetic heterogeneity. Here, the identification of two heterozygous missense mutations in the C1orf194 gene at 1p21.2-p13.2 with Charcot-Marie-Tooth ...
Shun-chang Sun +24 more
semanticscholar +1 more source
Progress in RNA‐Targeted Therapeutics for Human Diseases
MedComm, Volume 7, Issue 2, February 2026.RNA‐targeted therapies are revolutionizing molecular medicine by transitioning from a “protein‐centric” focus to an “RNA‐regulatory network” approach. Leveraging RNA's diverse roles in gene regulation, signaling, and epigenetic modifications, advanced platforms such as ASOs, siRNA, miRNA, mRNA, aptamers, shRNA, and CRISPR/Cas systems are enabling ...
Wangzheqi Zhang +10 more
wiley +1 more source
Journal of Foot and Ankle Research, 2015 Background Proinflammatory cytokines are an integral part of the osteolytic activity of Charcot arthropathy but are also central to normal bone healing.
Agnetha Folestad +6 more
doaj +1 more source
Charcot arthropathy of the diabetic foot in a sub-Saharan tertiary hospital: a cross-sectional study
Journal of Foot and Ankle Research, 2019 BackgroundCharcot foot arthropathy is a potentially limb-threatening condition that leads to progressive destruction of the bones and joints in the neuropathic foot. One of its main causes is diabetes mellitus whose prevalence is steadily increasing. The
Jean Paul Vwakya Wanzou +4 more
semanticscholar +1 more source
Magnetic Resonance in Medicine, Volume 95, Issue 2, Page 1189-1204, February 2026.Abstract Purpose Fat fraction (FF) quantification in individual muscles using quantitative MRI is of major importance for monitoring disease progression and assessing disease severity in neuromuscular diseases. Undersampling of MRI acquisitions is commonly used to reduce scanning time. The present paper introduces novel unrolled neural networks for the
Sandra Martin +6 more
wiley +1 more source
Permeable borders, possible worlds: history and identity in the novels of Michèle Roberts [PDF]
, 2003 Since the publication of her first novel, A Piece of the Night, in 1978, Michele Roberts’ fiction has continually returned to epiphanic moments which elide divisions in time and space.
White, Rosie
core
Home monitoring of foot skin temperatures to prevent ulceration [PDF]
, 2004 OBJECTIVE - To evaluate the effectiveness of at-home infrared temperature monitoring as a preventative tool in individuals at high risk for diabetes-related lower-extremity ulceration and amputation. RESEARCH DESIGN AND METHODS - Eighty-five patients who
Constantinides, Georgios +2 more
core +2 more sources
Chinese Clinical Practice Guidelines for Auditory Neuropathy (gCAN)
World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 12, Issue 1, Page 1-24, February 2026.ABSTRACT Auditory neuropathy (AN) is an auditory disorder that affects the function of the auditory pathway. An increasing number of AN cases have been identified with the revelation of the underlying mechanisms, the advancements of diagnostic and detecting techniques.
Chinese Multi‐Center Research Collaborative Group on Clinical Diagnosis and Intervention of Auditory Neuropathy; Editorial Board of Chinese Journal of Otorhinolaryngology Head and Neck Surgery; Society of Otorhinolaryngology Head and Neck Surgery +43 more
wiley +1 more source
Chinese Guidelines for Diagnosis and Treatment of Chronic Rhinosinusitis (2024)
World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 12, Issue 1, Page 25-55, February 2026.ABSTRACT Chronic rhinosinusitis (CRS), a complex inflammatory disease with heterogeneous pathogenesis, demands evolving evidence‐based strategies. Since the 2018 Chinese guidelines and EPOS2020, international advances in CRS immunopathology and biologics have revolutionized therapeutic approaches, particularly through phenotype–endotype classification ...
Subspecialty Group of Rhinology +4 more
wiley +1 more source
Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 251-262, February 2026.In children potentially fulfilling the criteria for developmental coordination disorder (DCD), phenotypical assessment does not sufficiently predict the diagnostic outcome (i.e. DCD or an alternative diagnosis). Due to the lack of distinguishing clinical and diagnostic features and the high prevalence of genetic diagnoses in these patients, additional ...
Martinica Garofalo +5 more
wiley +1 more source