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101
Interaction between 𝛼-Synuclein and Other Proteins in Neurodegenerative Disorders
Published 2011-01-01“…Protein aggregation is a common characteristic of many neurodegenerative disorders, and the interaction between pathological/toxic proteins to cause neurodegeneration is a hot topic of current neuroscience research. …”
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102
Effects of selection and mutation on epidemiology of X-linked genetic diseases
Published 2017-05-01“…The epidemiology of X-linked recessive diseases, a class of genetic disorders, is modeled with a discrete-time, structured, non linear mathematical system. …”
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103
Optimality and stability of symmetric evolutionary games with applications in genetic selection
Published 2014-12-01“…We demonstrate how these conditions can be applied to justifying the strategies and their stabilities for a special class of genetic selection games including some in the study of genetic disorders.…”
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104
Pituitary adenoma: important genetic factors and clinical diagnostic issues
Published 2021-06-01“…Therefore, in this article, we review the genetic issues of pituitary adenoma. …”
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105
Genomic exploration of pediatric neurological disorders: a case series
Published 2025-01-01“…Abstract Background Pediatric neurological disorders include neurodegenerative diseases causing cognitive impairment and vision loss. …”
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106
Mechanisms of bacterial-to-host interaction and their disorders at inflammatory bowel diseases
Published 2014-11-01“…To discuss modern concepts on interaction of bacterial cells with human body, and disorders of micro-and macroorganism interaction at inflammatory bowel diseases (IBD).Summary. …”
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107
Sex differences in borderline personality disorder: A scoping review.
Published 2022-01-01“…Borderline Personality Disorder (BPD) is often perceived to be a female-predominant disorder in both research and clinical contexts. …”
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108
Proteostasis and Mitochondrial Role on Psychiatric and Neurodegenerative Disorders: Current Perspectives
Published 2018-01-01“…Thereby, altered mitochondrial functions on regulatory modulation of dendritic development, neuroinflammation, and respiratory function may underlie the development of some psychiatric conditions, such as schizophrenia, being influenced by a genetic background. It is expected that with the increasing evidence about proteostasis in neuropsychiatric disorders, new therapeutic alternatives will emerge.…”
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109
Machine learning and facial recognition for down syndrome detection: A comprehensive review
Published 2025-03-01Subjects: Get full text
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110
Insights into audio-visual temporal perception in bipolar disorder and schizophrenia
Published 2025-01-01Get full text
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111
Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications
Published 2014-01-01Get full text
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112
Profile of Skin Disorders in Unreached Hilly Areas of North India
Published 2016-01-01“…Overall the infections of the skin and subcutaneous tissue were the most common (32.6%) followed by the disorders of skin appendages (19.8%), and dermatitis and eczema (18.8%). …”
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113
Familial Hypercholesterolemia: Genetics, Symptoms, Diagnosis and Treatment - A Literature Overview
Published 2025-02-01“… Familial hypercholesterolemia is a genetic disorder of lipid management, especially LDL-C. …”
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114
Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy
Published 2017-01-01“…In turn, improved genetic technology and subsequent gene identification have enabled further insights into the mechanisms of motor neuron degeneration and how these diseases form part of a neurodegenerative disorder spectrum. …”
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115
Circadian Rhythm Disturbances in Mood Disorders: Insights into the Role of the Suprachiasmatic Nucleus
Published 2017-01-01“…Circadian rhythm disturbances are a common symptom among individuals with mood disorders. The suprachiasmatic nucleus (SCN), in the ventral part of the anterior hypothalamus, orchestrates physiological and behavioral circadian rhythms. …”
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116
Single Photon Emission Tomography Imaging in Parkinsonian Disorders: A Review
Published 2000-01-01“…Parkinsonian symptoms are associated with a number of neurodegenerative disorders, such as Parkinson’s disease, multiple system atrophy and progressive supranuclear palsy. …”
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117
Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach
Published 2016-01-01“…To sum up the causal factors of almost all the MED-associated disorders, we decided to embark on a less traveled but nonetheless relevant direction, by focusing our attention on associated gene family products, regulation of their expression, genetic mutation, and mutation types. …”
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118
New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications
Published 2018-01-01“…Hereditary cholestasis is a heterogeneous group of rare autosomal recessive liver disorders, which are characterised by intrahepatic cholestasis, pruritus, and jaundice and caused by defects in genes related to the secretion and transport of bile salts and lipids. …”
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119
Optic neuritis: relation between inflammatory genetic markers and occurrence of the disease
Published 2019-09-01“…Thanks to recent advances in the field of genetics, it is possible to identify an increasing number of genes that could be associated with ON pathogenesis. …”
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120
Identification and analysis of individuals who deviate from their genetically-predicted phenotype.
Published 2023-09-01“…We first applied our methods to standing height: our primary analysis classified 244 individuals (0.15%) as misaligned to their genetically predicted height. We show that these individuals are enriched for self-reporting being shorter or taller than average at age 10, diagnosed congenital malformations, and rare loss-of-function variants in genes previously catalogued as causal for growth disorders. …”
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