Wolfram syndrome
Deletion of mitochondrial DNA in a case of early onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300)
... lymphocyte homogenate of a girl suffering from the Wolfram syndrome. In addition, we provide evidence for a 7.6-kilobase pair heteroplasmic deletion (spanning nucleotides 6465-14135) of the mitochondrial ...
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Developmental hypomyelination in Wolfram syndrome: new insights from neuroimaging and gene expression analyses
... in Wolfram syndrome when compared to controls (using both region of interest (ROI) and voxel-wise analysis approaches) ...(DTI). Wolfram syndrome patients had significantly lower frac- tional ...
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A cost of illness study evaluating the burden of Wolfram syndrome in the United Kingdom
... with Wolfram syndrome highlighted that a major financial cost to families is loss of working hours, often due to extensive time off for illness, appointments and caring responsibilities ...
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Visual pathway function and structure in Wolfram syndrome: patient age, variation and progression
... have Wolfram syndrome (WFS) and to describe the range of disease severity evident in patients with WFS whose ages differed by as much as 20 years at first ...
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EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome
... Wolfram syndrome (OMIM 222300) is characterized by young onset diabetes and bilateral optic atrophy. It is also known as the DIDMOAD, for the other features of the disease including diabetes insipidus, ...
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Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells
... cause Wolfram syn- drome, a genetic form of diabetes and ...with Wolfram syndrome have some mental disturbance such as severe depression, psychosis, or organic brain syndrome, as well as ...
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A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome
... In family WS1, Wolfram syndrome was diagnosed in four sisters whose parents were first cousins. All the sisters first pre- sented with IDDM and dyschromatopsia followed by severe optic atrophy in their ...
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DPP 4 Inhibition Ameliorates Pancreatic β Cell Failure and Improves Glucose Tolerance in the Mouse Model of Wolfram Syndrome
... of Wolfram syndrome, such as diabetes insipidus and optic atrophy, can be suppressed by incretin-based ...with Wolfram syndrome [25]. Wolfram β -cells showed increased levels of ER ...
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Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome
... WFS1 on chromosome 4 is the causative gene of Wolfram Syndrome type 1 (WFS1) [8], and the loss-of- function mutations of WFS1 have been identified in most of patients with WFS [5, 9]. WFS1 encodes ...
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Phenotypic characteristics of early Wolfram syndrome
... Eighteen participants, 3 of whom were siblings, aged 5 to 25 were recruited through the Washington University Wolfram Syndrome International Registry website (http:// ...
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Wolfram syndrome: A brief discussion
... with Wolfram syndrome develop a neurological or psychiatric disorder, most commonly problems with balance and coordination (ataxia), typically beginning in early ...with Wolfram syndrome ...
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Sleep disturbances in Wolfram syndrome
... the Wolfram research clinic during which most patients were sleeping in a hotel after traveling, which could bias our ...that Wolfram syndrome patients have greater sleep disturbances in their home ...
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Longitudinal hearing loss in Wolfram syndrome
... Background: Wolfram syndrome (WFS) is a rare autosomal recessive disease with clinical manifestations of diabetes mellitus (DM), diabetes insipidus (DI), optic nerve atrophy (OA) and sensorineural hearing ...
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Selective cognitive and psychiatric manifestations in Wolfram Syndrome
... Wolfram Syndrome (WFS) (OMIM #222300) [1] is a rare autosomal recessive disease typically characterized by diabetes mellitus, diabetes insipidus, optic nerve at- rophy, hearing and vision loss, motor ...
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Early presentation of gait impairment in Wolfram Syndrome
... Thirteen individuals diagnosed with WFS (8 female, mean age 15.5 years, SD 6.3 yrs, min 6.4 yrs, max 25.8 yrs) and thirty TD young individuals (16 female, mean age 13.2 years, SD 6.2 yrs, min 5.6 yrs, max 28.5 yrs) ...
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Reliability and validity of the Wolfram Unified Rating Scale (WURS)
... Testing of the WURS occurred at the Washington Uni- versity School of Medicine Wolfram Syndrome Research Clinic at the Pediatric Clinical Research Unit (PCRU), St. Louis Children’s Hospital and ...
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Parametric Bootstrap Analysis of Gini Index in Gamma Distribution
... compute the equality of opportunity (Weymark, 2003; Kovacevic, 2010; Roemer, 2013; Brunori et al., 2013), assess economic inequality as well to determine income mobility (Khor and Pencavel, 2008; Macheras, 2016). ...
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A Lawyer's Ethical Duty to Represent the Unpopular Client
... According to Wolfram, even though this increase in danger is created be- cause of other lawyers' neglect of their moral duty, "the duty to represent a necessitous[r] ...
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Some applications of linear difference equations in finance with wolfram|alpha and maple
... Maple, Wolfram|Alpha does not allow to save and reload the results of computations and make own procedures, also its perfor- mance is rather ...Moreover, Wolfram|Alpha provides a variety of com- putations ...
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The kiss of death : Thomas Lovell Beddoes' Death's Jest book and the Rosicrucian quest : a thesis presented in partial fulfilment of the requirements for the degree of Master of Arts in English at Massey University
... for then this should be taken seriously since it would undermine the whole idea that death is not the terror it appears to be, by implying that it isl Just because Wolfram reverts to soo[r] ...
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