Articles with "monogenic forms" as a keyword



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Differences in survival across monogenic forms of Parkinson's disease.

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Published in 2023 at "Annals of neurology"

DOI: 10.1002/ana.26636

Abstract: OBJECTIVE Survival of patients with monogenic Parkinson's disease may depend on the causative genes associated with the disease. In this study, we compare survival of patients with Parkinson's disease according to the presence of SNCA,… read more here.

Keywords: disease; survival; parkinson disease; monogenic forms ... See more keywords
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Early‐Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen

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Published in 2022 at "Journal of Bone and Mineral Research"

DOI: 10.1002/jbmr.4668

Abstract: Early‐onset osteoporosis (EOOP), characterized by low bone mineral density (BMD) and fractures, affects children, premenopausal women and men aged read more here.

Keywords: bone; monogenic forms; rare monogenic; disease pathogenesis ... See more keywords
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Does the Expression and Epigenetics of Genes Involved in Monogenic Forms of Parkinson’s Disease Influence Sporadic Forms?

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Published in 2022 at "Genes"

DOI: 10.3390/genes13030479

Abstract: Parkinson’s disease (PD) is a disorder characterized by a triad of motor symptoms (akinesia, rigidity, resting tremor) related to loss of dopaminergic neurons mainly in the Substantia nigra pars compacta. Diagnosis is often made after… read more here.

Keywords: epigenetics genes; parkinson disease; genes involved; monogenic forms ... See more keywords