Results 21 to 30 of about 1,225,648 (255)
Urinary proteomic biomarkers for diagnosis and risk stratification of autosomal dominant polycystic kidney disease: a multicentric study [PDF]
, 2013 Treatment options for autosomal dominant polycystic kidney disease (ADPKD) will likely become available in the near future, hence reliable diagnostic and prognostic biomarkers for the disease are strongly needed.
Torres, Vicente E. +114 more
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Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy [PDF]
, 2010 Background: Up to the 1950s, there was an ongoing debate about the diversity of hereditary optic neuropathies, in particular as to whether all inherited optic atrophies can be ascribed to Leber's hereditary optic neuropathy (LHON) or represent different ...
Alexander Christiane +35 more
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Hypertensive Emergency In UMOD-Related Autosomal Dominant Tubulointerstitial Kidney Disease [PDF]
, 2022 Hypertensive emergency is characterized by an acute elevation in blood pressure with evidence of impending or progressive acute target organ damage. Management relies mainly on intravenous medications guided by the type of target-organ damage, but there ...
Sunil Sapru, Talha Chaudhry
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Fibrillar aggregations of pathogenic pro-vasopressin mutants [PDF]
, 2009 Diabetes insipidus is a disregulation of water homeostasis characterized by large fluid turnover in the kidney. Water homeostasis is regulated by the hormone vasopressin by increasing reapsorption of water in the renal collecting duct. Autosomal dominant
Birk, Julia
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The Autosomal Dominant Dystonias
Brain Pathology, 1992 Dystonia is a term used to describe a specific set of abnormal movements that can occur as a symptom of a variety of neurologic disorders, but also as a disease entity in its own right. This review focuses on the primary dystonias and delineates the genetic contribution to these disorders.
T, Gasser, S, Fahn, X O, Breakefield
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CADASIL: A monogenic condition causing stroke and subcortical vascular dementia [PDF]
, 2002 Mutations in Notch3 are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), an inherited small vessel disease leading to subcortical strokes and vascular dementia. The phenotypic presentation
Dichgans, Martin
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Degradation of vasopressin precursor and pathogenic mutants in diabetes insipidus [PDF]
, 2007 The nonapeptide hormone, arginine vasopressin, plays a decisive role in the regulation of fluid balance by reducing free water clearance through reabsorption of water in the renal collecting ducts.
Friberg, Michael
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Autosomal dominant Parkinson's disease [PDF]
Parkinsonism & Related Disorders, 2012 Over the past two decades the understanding and classification of Parkinson's disease (PD) has been revolutionized by genetic research. Currently, sixteen PARK loci have been identified with autosomal dominant genes such as SNCA, and LRRK2, and autosomal recessive genes such as PRKN, DJ-1, and PINK1.
Christina, Sundal +3 more
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023 Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei +4 more
wiley +1 more source
Spinocerebellar Ataxia Type 2 [PDF]
, 2012 1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Georg Auburger +9 more
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