Results 51 to 60 of about 16,843 (240)

Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis [PDF]

open access: yes, 1999
Familial hemiplegic migraine is a rare autosomal dominant disorder associated with stereotypic neurologic au ra phenomena including hemiparesis, So far two chromosomal loci have been identified. Families linked to the chromosome 19 locus display missense
Benninger, C.   +4 more
core   +1 more source

Genetic neurological channelopathies: molecular genetics and clinical phenotypes [PDF]

open access: yes, 2015
Evidence accumulated over recent years has shown that genetic neurological channelopathies can cause many different neurological diseases. Presentations relating to the brain, spinal cord, peripheral nerve or muscle mean that channelopathies can impact ...
Hanna, MG, Kullmann, DM, Spillane, J
core   +1 more source

Adenylyl Cyclase 8 in Dorsal CA1 Neurons Prevents Depressive‐Like Behaviors by Maintaining Neuronal Excitability and Glutamatergic Neurotransmission Through TIP39‐PTH2R Signaling

open access: yesAdvanced Science, EarlyView.
Depression, a prevalent neuropsychiatric disorder with unclear pathogenesis, involves dysfunctional adenylyl cyclase 8 (Adcy8) as a key risk factor. Chronic stress selectively reduces Adcy8 expression in the dorsal CA1 (dCA1) neurons. Depletion of Adcy8 in dCA1 excitatory neurons induces depressive‐like behaviors by impairing neuronal excitability and ...
Zi‐Jie Liu   +14 more
wiley   +1 more source

Navigating the Ethereal Tightrope: The Nanogenerator Manipulates Neurons for Immune Equilibrium

open access: yesAdvanced Science, EarlyView.
This review explores how nanogenerators modulate neuroimmune responses, offering innovative strategies for treating neurological disorders. By interfacing with neural pathways, they enable precise control of immune activity, especially via vagus nerve stimulation.
Jia Du   +5 more
wiley   +1 more source

Sports Activity and Arrhythmic Risk in Cardiomyopathies and Channelopathies: A Critical Review of European Guidelines on Sports Cardiology in Patients with Cardiovascular Diseases

open access: yesMedicina, 2021
The prediction and prevention of sudden cardiac death is the philosopher’s stone of clinical cardiac electrophysiology. Sports can act as triggers of fatal arrhythmias and therefore it is essential to promptly frame the athlete at risk and to carefully ...
Giovanni Volpato   +16 more
doaj   +1 more source

Connexin43 Deficiency Leads to Ventricular Arrhythmias by Reprogramming Proline Metabolism

open access: yesAdvanced Science, EarlyView.
The study demonstrated that connexin43 (Cx43) knockout caused arrhythmic phenotype and decreased proline content in vitro and in vivo. Mechanistically, Cx43 interacts with the amino acid transporter SNAT2 (sodium‐dependent neutral amino acid transporter), and its deficiency disrupts proline transport and metabolism.
Hangying Ying   +8 more
wiley   +1 more source

Bioinformatics characterisation of the (mutated) proteins related to Andersen–Tawil syndrome

open access: yesMathematical Biosciences and Engineering, 2019
In the last two decades, a group of proteins whose mutations are associated with a disease manifested by episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities has been under constant study.
Carlos Polanco   +4 more
doaj   +1 more source

Beyond Transconductance: Cell‐Polymer Coupling Determines Fidelity in Action Potential Recording via Electrolyte‐Gated Polymer Transistors

open access: yesAdvanced Science, EarlyView.
High electrical performance alone does not guarantee efficient bioelectronic signal transduction. Despite excellent mixed ionic‐electronic conduction, recordings from cardiomyocytes reveal that p(g2T‐TT)‐based OECTs predominantly transduce field potential FP‐like signals due to weak cell‐polymer coupling.
Giulia Zoe Zemignani   +10 more
wiley   +1 more source

From exercise intolerance to functional improvement: The second wind phenomenon in the identification of McArdle disease [PDF]

open access: yes, 2014
McArdle disease is the most common of the glycogen storage diseases. Onset of symptoms is usually in childhood with muscle pain and restricted exercise capacity.
Andrea Beggs   +23 more
core   +3 more sources

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