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author = "Orrell, R"

Found 60 documents, displaying page 5 of 6

Peripheral nerve granuloma in a patient with tuberculosis

Description :
Repository : Europe PubMed Central
Language(s) : English

Patterns of inheritance in familial ALS

Description : We investigated 185 families with ALS for evidence of anticipation and mitochondrial inheritance. Although initial analysis demonstrated significant anticipation of age at death between generations in patients with familial ALS, further analysis demonstrated features of regression to the mean, sugge...
Repository : UCL Eprints
Language(s) : English

Recent developments in the drug treatment of motor neurone disease.

Description :
Repository : Europe PubMed Central
Language(s) : English

Relation of boron to the composition and mechanical properties of bone.

Description : A review of the experimental studies relating boron to biological effects on appendicular and axial bones in animal models suggests that numerous influences, known and unknown, affect the responsiveness of bone to dietary boron. Degrees of skeletal response to boron are modified by other nutritional...
Repository : Europe PubMed Central
Language(s) : English

Familial cramp due to potassium-aggravated myotonia

Description : Clinical, electrophysiological, and molecular genetic features were investigated in two patients from a family a with dominantly inherited myotonic disease, characterised by painful cramps, stiffness without weakness, fluctuation of symptoms, and cold sensitivity. A reduction in amplitude of the com...
Repository : Europe PubMed Central
Language(s) : English

Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic

Description : The authors describe a patient with hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP) who has two compound heterozygote mutations of the PANK2 gene. IVS4–1 G>T segregates with the lipid and erythrocyte changes in the mother and sister. No other family...
Repository : UCL Eprints
Language(s) : English

Cerebral achromatopsia as a presentation of Trousseau's syndrome.

Description : A 67-year-old man developed a sudden onset of achromatopsia. Magnetic resonance imaging showed occipital lobe infarction. Repeated episodes of neurological deficit referable to the posterior circulation initially suggested an embolic source, but subsequently proved to be due to a coagulopathy relate...
Repository : Europe PubMed Central
Language(s) : English

Testosterone deficiency myopathy.

Description : Testosterone is recognized to have a positive effect on nitrogen balance and muscle development in hypogonadal men, but significantly myopathy secondary to testosterone deficiency has been reported only rarely. We describe a patient who presented with a myopathy associated with testosterone deficien...
Repository : Europe PubMed Central
Language(s) : English

Found 60 documents, displaying page 5 of 6