Search Results - "Hammans, S R"

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing by Labrum, R W, Rajakulendran, S, Graves, T D, Eunson, L H, Bevan, R, Sweeney, M G, Hammans, S R, Tubridy, N, Britton, T, Carr, L J, Ostergaard, J R, Kennedy, C R, Al-Memar, A, Kullmann, D M, Schorge, S, Temple, K, Davis, M B, Hanna, M G

“…Episodic ataxia type 2 (EA2) and familial hemiplegic migraine type 1 (FHM1) are autosomal dominant disorders characterised by paroxysmal ataxia and migraine,…”
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Allgrove or 4 “A” syndrome: an autosomal recessive syndrome causing multisystem neurological disease by Kimber, J, McLean, B N, Prevett, M, Hammans, S R

“…Allgrove’s or “4 A” syndrome is a rare autosomal recessive condition with alacrima, achalasia, autonomic disturbance, and ACTH insensitivity among other…”
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PSEUDODOMINANT INHERITANCE OF SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY by TERRACCIANO, A, FOULDS, N. C, DITCHFIELD, A, BUNYAN, D. J, CROLLA, J. A, HUANG, S, SANTORELLI, F. M, HAMMANS, S. R

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Calpainopathy presenting as foot drop in a 41 year old by Burke, G, Hillier, C, Cole, J, Sampson, M, Bridges, L, Bushby, K, Barresi, R, Hammans, S.R

“…Abstract Mutations in the gene encoding muscle-specific calpain 3 protease cause limb girdle muscular dystrophy type 2A. Calpainopathy is characterised by…”
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The inherited ataxias and the new genetics by Hammans, S R

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X-linked sideroblastic anaemia with ataxia: another mitochondrial disease? by Hellier, K D, Hatchwell, E, Duncombe, A S, Kew, J, Hammans, S R

“…OBJECTIVES The syndrome of X-linked sideroblastic anaemia with ataxia is rare, described only twice in the literature. The aim was to obtain clinical…”
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Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples by Hammans, S R, Sweeney, M G, Brockington, M, Morgan-Hughes, J A, Harding, A E

“…Point mutations of mitochondrial DNA have been described in the muscle of patients with syndromes of myoclonic epilepsy and ragged red fibres (MERRF) and of…”
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Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE) by Fairbanks, L. D., Marinaki, A. M., Carrey, E. A., Hammans, S. R., Duley, J. A.

“…We report the presence of the unusual nucleoside deoxyuridine in the urine of a patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (MIM…”
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Ataxia with isolated vitamin E deficiency presenting as mutation negative Friedreich’s ataxia by Hammans, S R, Kennedy, C R

“…Ataxia with vitamin E deficiency is an autosomal recessive condition associated with a defect in the α-tocopherol transfer protein. Clinically it manifests as…”
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Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation by Robinson, D O, Wills, A J, Hammans, S R, Read, S P, Sillibourne, J

“…Background: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant late onset neuromuscular disease characterised by proximal muscle weakness,…”
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A study of mitochondrial DNA mutations in peripheral lymphocytes in an aging cohort by Zhang, B, Ye, S, Sayer, A A, Hammans, S R, Adio, S, Hinks, L J, Smythe, P J, Groot, D, Cooper, C, Day, I N M

“…Somatic mutation in the mitochondrial genome occurs much more rapidly than in the nuclear genome and is a feature, possibly contributory, of the aging of cells…”
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A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies by Hammans, S R, Sweeney, M G, Wicks, D A, Morgan-Hughes, J A, Harding, A E

“…Using in situ hybridization and histochemistry we have studied muscle biopsy samples from eight patients with mitochondrial encephalomyopathies and known…”
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Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy by Sweeney, M G, Hammans, S R, Duchen, L W, Cooper, J M, Schapira, A H, Kennedy, C R, Jacobs, J M, Youl, B D, Morgan-Hughes, J A, Harding, A E

“…An 18-year-old male patient presented with clinical and radiological evidence of Leigh's syndrome (LS), having developed progressive myoclonic epilepsy and…”
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MYOTONIC DYSTROPHY, 3rd edition by Hammans, S. R.

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Oculopharyngeal muscular dystrophy : Phenotypic and genotypic studies in a UK population by HILL, M. E, CREED, G. A, MCMULLAN, T. F. W, TYERS, A. G, HILTON-JONES, D, ROBINSON, D. O, HAMMANS, S. R

“…Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disorder of late onset that commonly presents with ptosis and dysphagia. The genetic basis…”
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An unusual familial oculopharyngeal syndrome by Cooper, S. A., Hill, M. E., Weller, R. O., Hammans, S. R.

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Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy by Hammans, S R, Sweeney, M G, Holt, I J, Cooper, J M, Toscano, A, Clark, J B, Morgan-Hughes, J A, Harding, A E

“…Twenty-three patients with mitochondrial myopathies and mitochondrial DNA deletions in muscle were studied by means of deletion mapping and sequencing,…”
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Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA by McShane, M A, Hammans, S R, Sweeney, M, Holt, I J, Beattie, T J, Brett, E M, Harding, A E

“…A patient is described who has features of Pearson syndrome and who presented in the neonatal period with a hypoplastic anemia. He later developed hepatic,…”
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A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome by Chalmers, R M, Lamont, P J, Nelson, I, Ellison, D W, Thomas, N H, Harding, A E, Hammans, S R

“…Subacute necrotizing encephalomyelopathy (Leigh syndrome) is associated with a number of mitochondrial DNA (mtDNA) abnormalities. We studied a family with…”
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A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy by Hammans, S R, Robinson, D O, Moutou, C, Kennedy, C R, Dennis, N R, Hughes, P J, Ellison, D W

“…X-linked myotubular myopathy (XLMTM) characteristically causes severe or fatal muscle weakness in male infants. Mutations in the gene MTM1, encoding the…”
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