Results 21 to 30 of about 2,431,050 (332)
1st INCF Workshop on Genetic Animal Models for Brain Diseases [PDF]
, 2011 The INCF Secretariat organized a workshop to focus on the “role of neuroinformatics in the processes of building, evaluating, and using genetic animal models for brain diseases” in Stockholm, December 13–14, 2009.
Holm Graessner, Olaf Riess
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Huntington’s disease genetics [PDF]
NeuroRX, 2004 Huntington's disease (HD) is a dominantly transmitted neurodegenerative disorder with wide variation in onset age but with an average age at onset of 40 years. Children of HD gene carriers have a 50% chance of inheriting the disease. The characteristic symptoms of HD are involuntary choreiform movements, cognitive impairment, mood disorders, and ...
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Mitochondrial genetic diseases [PDF]
Current Opinion in Pediatrics, 2010 Mitochondrial diseases are individually uncommon, but collectively pose a significant burden on human health. Primary mitochondrial disease is caused by defects in the mitochondrial DNA-encoded genes or in nuclear genes whose products are imported into the mitochondrion.
Marni J, Falk, Neal, Sondheimer
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Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin
Biomedicines, 2022 Protein mutations may lead to pathologies by causing protein misfunction or propensity to degradation. For this reason, several studies have been performed over the years to determine the capability of proteins to retain their native conformation under ...
Rita Puglisi
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Histopathology of the gut in rheumatic diseases [PDF]
, 2018 The gastrointestinal tract regulates the trafficking of macromolecules between the environment and the host through an epithelial barrier mechanism and is an important part of the immune system controlling the equilibrium between tolerance and immunity ...
Ciccia F. +4 more
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Autoimmune Disease Genetics [PDF]
Clinical and Developmental Immunology, 2012 Genetic risk factors play an important role in autoimmune disease susceptibility. Recent advances genotyping techniques, statistical methods, and the organization of large patient cohorts have facilitated explosive progress in this field, and our understanding of the genetic architecture of human autoimmunity is rapidly expanding.
Timothy B. Niewold +3 more
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Clinical and genetic characteristics of adult cerebral adrenoleukodystrophy
Shanghai Jiaotong Daxue xuebao. Yixue ban, 2023 Objective·To summarize and analyze the clinical and genetic characteristics of adult cerebral adrenoleukodystrophy(ACALD ).Methods·The data of eight patients with ACALD who attended the Shanghai Sixth People′s Hospital, Shanghai Jiao Tong University ...
LIU Taotao +7 more
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Genetic Factors Contributing to the Susceptibility of Development of Prion Diseases [PDF]
, 2017 This paper won an honorable mention writing flag award in the research category. Claire Culbertson, writing for Katherine Bruner’s BIO 325L class, “Lab Experience in Genetics”.Bruner, KatherineUndergraduate ...
Culbertson, Claire
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Genetic neuromuscular disease [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 2002 The clinical practice of neuromuscular disease is currently undergoing enormous change as a direct result of the wealth of recent molecular genetic discoveries. Indeed, the majority of gene discoveries in the area of neurological disease relate to neuromuscular disorders.
Mary M, Reilly, Michael G, Hanna
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Scientific Reports, 2017 The number of genetic factors associated with asthma remains limited. To identify new genes with an undetected individual effect but collectively influencing asthma risk, we conducted a network-assisted analysis that integrates outcomes of genome-wide ...
Y. Liu +11 more
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