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Neuroprotection in Neurodegenerative Disorders
Although the concept of neuroprotection was originally applied to acute neurological conditions, it has been extended to chronic diseases of the...
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Side Effects of Chloroquine and Hydroxychloroquine on Skeletal Muscle: a Narrative Review
Purpose of ReviewConcerning adverse neuromuscular effects, there are quite a few reports about the incidence and prevalence of chloroquine (CQ) and...
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Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis
The juvenile form of neuronal ceroid Lipofuscinosis (JNCL) is the most common form within this group of rare lysosomal storage disorders, causing...
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Diet-driven microbial ecology underpins associations between cancer immunotherapy outcomes and the gut microbiome
The gut microbiota shapes the response to immune checkpoint inhibitors (ICIs) in cancer, however dietary and geographic influences have not been...
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Haploinsufficiency, Dominant Negative, and Gain-of-Function Mechanisms in Epilepsy: Matching Therapeutic Approach to the Pathophysiology
This review summarizes the pathogenic mechanisms that underpin the monogenic epilepsies and discusses the potential of novel precision therapeutics...
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Enzyme replacement therapy for mucopolysaccharidoses; past, present, and future
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders, which lack an enzyme corresponding to the specific type of MPS. Enzyme...
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Humoral and circulating follicular helper T cell responses in recovered patients with COVID-19
The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic has dramatically expedited global vaccine development efforts
1 –3 , most...
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Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population
Preconception expanded carrier screening (ECS) enables prospective parents to assess their risk of having a child with an autosomal recessive...
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Anti-prion Drugs Targeting the Protein Folding Activity of the Ribosome Reduce PABPN1 Aggregation
Prion diseases are caused by the propagation of PrP Sc , the pathological conformation of the PrP C prion protein. The molecular mechanisms underlying...
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Further Characterization of the Predominant Inner Retinal Degeneration of Aging Cln3 Δex7/8 Knock-In Mice
Neuronal ceroid lipofuscinosis (NCL) is the most common group of neurogenetic storage diseases typically beginning in childhood. The juvenile form...
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Therapies for rare diseases: therapeutic modalities, progress and challenges ahead
Most rare diseases still lack approved treatments despite major advances in research providing the tools to understand their molecular basis, as well...
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Syndromic Disorders
This chapter summarizes the application of visual electrophysiology in syndromic disorders involving the retina. The characteristics of...
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Peste des Petits Ruminants
Peste des petits ruminants (PPR) is a contagious viral disease of domestic and wild small ruminants. Clinically, it is characterized by fever,...
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T cell and antibody responses induced by a single dose of ChAdOx1 nCoV-19 (AZD1222) vaccine in a phase 1/2 clinical trial
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative agent of Coronavirus Disease 2019 (COVID-19), has caused a global...
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Nutrition and Hydration in Palliative Care and Their Diverse Meanings
Essential for life, food and fluids are regarded as basic care, professionally, ethically, and legally. This chapter seeks to contextualize and...
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Strategies for delivering therapeutics across the blood–brain barrier
Achieving sufficient delivery across the blood–brain barrier is a key challenge in the development of drugs to treat central nervous system (CNS)...
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Gene Therapy for Inborn Errors of Metabolism: Batten Disease
The development of a gene therapy for inborn errors of metabolism is a multifaceted challenge that rides on organizational, financial, and scientific...
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Brain Distribution of Drugs: Brain Morphology, Delivery Routes, and Species Differences
Neuropharmacokinetics considers cerebral drug distribution as a critical process for central nervous system drug action as well as for drug...
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Focused Update on AAV-Based Gene Therapy Clinical Trials for Inherited Retinal Degeneration
Inherited retinal diseases (IRDs) comprise a clinically and genetically heterogeneous group of disorders that can ultimately result in photoreceptor...
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Understanding the Pathogenicity of Noncoding RNA Expansion-Associated Neurodegenerative Disorders
Recent decades of cutting-edge research have unraveled abnormal nucleotide repeat expansions that manifest themselves in the form of neuronal or...