Results 91 to 100 of about 87,063 (285)
The return of metabolism: biochemistry and physiology of glycolysis
ABSTRACT Glycolysis is a fundamental metabolic pathway central to the bioenergetics and physiology of virtually all living organisms. In this comprehensive review, we explore the intricate biochemical principles and evolutionary origins of glycolytic pathways, from the classical Embden–Meyerhof–Parnas (EMP) pathway in humans to various prokaryotic and ...
Nana‐Maria Grüning +19 more
wiley +1 more source
Charcot arthropathy is one of the most serious complications of diabetic foot syndrome that leads to amputation of the affected limb. Since there is no cure for Charcot arthropathy, early diagnosis and implementation preventive care are the best ...
Bożena Bruhn-Olszewska +3 more
doaj +1 more source
Rehabilitation interventions for foot drop in neuromuscular disease [PDF]
"Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Brumett +33 more
core +1 more source
Charcot’s famous secretaries [PDF]
ABSTRACT At the pinnacle of his career, Professor Charcot had four secretaries: Charles Féré, Pierre Marie, Georges Gilles de la Tourette and Georges Guinon. They helped the great founder of neurology with his activities at La Salpêtrière Hospital and his private clinic, examining patients before he made the final diagnosis.
Teive, Hélio Afonso Ghizoni +3 more
openaire +5 more sources
Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy
Charcot-Marie-Tooth type 4C is a demyelinating neuropathy caused by mutations of SH3TC2. Schiza et al. report that intrathecal injection of a lentiviral vector for targeted SH3TC2 delivery into Schwann cells leads to functional and morphological ...
Natasa Schiza +13 more
semanticscholar +1 more source
Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4‐Related Dysplasia
Exploring the genotype and phenotype diversity in a Chinese cohort with TRPV4‐related dysplasia. ABSTRACT Dominant mutations in the calcium permeable ion channel TRPV4 (transient receptor potential vanilloid 4) typically result in skeletal dysplasia or peripheral neuromuscular disease.
Lina Dong +8 more
wiley +1 more source
OPA1 mutation and late-onset cardiomyopathy: mitochondrial dysfunction and mtDNA instability. [PDF]
BackgroundMitochondrial fusion protein mutations are a cause of inherited neuropathies such as Charcot-Marie-Tooth disease and dominant optic atrophy.
Bers, Donald M +10 more
core +2 more sources
Banting memorial lecture 2025: Aligning clinical practice, policy and research
Abstract National clinical leadership, on a background of clinical practice and clinical research, provides unique perspectives. I have focused the Banting Memorial Lecture 2025 on the implementation of national programmes across England since 2013, for which, along with colleagues at NHS England, I successfully made the case for investment, led the ...
Jonathan Valabhji
wiley +1 more source
From the cell membrane to the nucleus: unearthing transport mechanisms for Dynein [PDF]
Mutations in the motor protein cytoplasmic dynein have been found to cause Charcot-Marie-Tooth disease, spinal muscular atrophy, and severe intellectual disabilities in humans. In mouse models, neurodegeneration is observed.
A. Friedman +53 more
core +1 more source

