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This article was published in the following journal.
Name: Movement disorders : official journal of the Movement Disorder Society
Mutations in LRRK2 are the most common cause of autosomal dominant Parkinson's disease, and the relevance of LRRK2 to the sporadic form of the disease is becoming ever more apparent. It is therefore e...
Prostate cyst, as an extrarenal manifestation in patients with autosomal dominant polycystic kidney disease, although infrequent, nevertheless goes beyond tenuous concomitance and may rarely contribut...
Robust evidence on the involvement of genetic factors in the etiology of Parkinson's disease (PD) expands our knowledge about monogenic causes that contribute for this important neurodegenerative diso...
In the past two decades, mutations in multiple genes have been linked to autosomal dominant or recessive forms of monogenic Parkinson's disease (PD). Collectively, these monogenic (often familial) cas...
The purpose of this study is to determine whether the medication pravastatin will ameliorate renal and cardiovascular disease over a 3-year period in children and young adults with autosom...
This is a Phase 2, open-label, parallel-group, multiple dose study designed to evaluate the pharmacokinetics, pharmacodynamics, safety and tolerability of multiple doses of lixivaptan in A...
This study will test to see if metformin is safe and if it is tolerated compared to placebo in adult Autosomal Dominant Polycystic Kidney Disease (ADPKD) patients with beginning stages of ...
The aim of the study is to test the following hypotheses: 1. that the function and/or regulation of AQP2 and /or ENaC in the principal cells is abnormal in autosomal dominant polyc...
This purpose of this study is to determine if bosutinib reduces the rate of kidney enlargement in subjects with autosomal dominant polycystic kidney disease (ADPKD) entering the study with...
Kidney disorders with autosomal dominant inheritance and characterized by multiple CYSTS in both KIDNEYS with progressive deterioration of renal function.
Proteins associated with sporadic or familial cases of PARKINSON DISEASE.
An autosomal dominant skin disease characterized by transient and variable noninflammatory ERYTHEMA and hyperkeratosis. It has been associated with mutations in the genes that code for CONNEXINS. Erythrokeratodermia variabilis inherited in an autosomal recessive fashion has also been reported. Affected individuals often develop PALMOPLANTAR KERATODERMA.
Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion.
A condition caused by the neurotoxin MPTP which causes selective destruction of nigrostriatal dopaminergic neurons. Clinical features include irreversible parkinsonian signs including rigidity and bradykinesia (PARKINSON DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of PARKINSON DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)
Parkinson's is a progressive neurological condition, affecting one person in every 500, 95% of which are over 40. It is caused by degeneration of more than 70% of the substantia nigra, which depletes the dopamine (the neurotransmitter involved in pro...
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...
Dementia describes a range of symptoms of cognitive decline. For example memory loss, problems with reasoning and communication skills, and a reduction in a person's abilities and skills in carrying out daily activities. There are about 820,000 peo...