Výsledky vyhledávání

Peripheral neuropathy in diabetes: it's not always what it looks like

Autor: Stephen Thomas, E. Bruno, S. V. Tan, Giuseppe Maltese, Anna Brackenridge

Publikováno v: Maltese, G, Tan, S V, Bruno, E, Brackenridge, A & Thomas, S 2018, ' Peripheral neuropathy in diabetes : it's not always what it looks like ', Diabetic Medicine, vol. 0, no. ja . https://doi.org/10.1111/dme.13701

Background Hereditary Neuropathy with liability to Pressure Palsies (HNPP) is an autosomal dominant neuropathy, associated with deletion of the Peripheral Myelin Protein‐22 (PMP‐22) gene, causing recurrent painless palsies with age of onset betwe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::679c455136a707007545876208792b72
https://pubmed.ncbi.nlm.nih.gov/29862581

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Muscle weakness, palpitations and a small chin: the Andersen-Tawil syndrome

Autor: Michael G. Hanna, S V Tan, Sanjeev Rajakulendran

Publikováno v: Practical Neurology. 10:227-231

'Ion channelopathies' have emerged in the past decade as a new cause of several neurological diseases. These Mendelian disorders are caused by mutations in genes that encode ion channel subunits and are often characterised by paroxysmal attacks of br

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f575b97b93e721ce74acc72e1e7921e4
https://doi.org/10.1136/jnnp.2010.217794

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AIDS-associated vacuolar myelopathy A morphometric study

Autor: R J Guiloff, F. Scaravilli, S. V. Tan

Publikováno v: Brain. 118:1247-1261

The post-mortem pathology in 20 spinal cords of human immunodeficiency virus (HIV) infected patients with vacuolar myelopathy was quantified by evaluating (i) the intensity of myelin change, vacuolation and macrophage density; and (ii) the areas of w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ddd30e90df936980164091ddcc94d4e
https://doi.org/10.1093/brain/118.5.1247

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Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement

Autor: R. Gooding, Thomas Cullup, Francesco Muntoni, Caroline Sewry, M.S. Damian, Sebahattin Cirak, S. V. Tan, J. Sheehan, Heinz Jungbluth, William Wallefeld, Nigel G. Laing, Phillipa J. Lamont, Victor Dubowitz, Stephen Abbs

Publikováno v: Neuromuscular disorders : NMD. 22(12)

Central Core Disease (CCD) and Multi-minicore Disease (MmD) (the "core myopathies") have been mainly associated with mutations in the skeletal muscle ryanodine receptor (RYR1) and the selenoprotein N (SEPN1) gene. A proportion of cases remain unresol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f14d25e7bcca5d4ba3a9932e0ed7733a
https://pubmed.ncbi.nlm.nih.gov/22784669

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Weakness on the intensive care unit

Autor: S V Tan, Werner J. Z’Graggen, Robin S. Howard

Publikováno v: Practical neurology. 8(5)

Patients who are recovering from critical illness may be weak and difficult to wean from ventilatory support as a complication of their underlying disorder, intercurrent events or treatment given during prolonged intensive care. These patients are di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5849c0418a537a2aaa0e644b308b6dc
https://pubmed.ncbi.nlm.nih.gov/18796583

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G.P.7.06 Infantile onset muscle stiffness with marked myofibrillar disruption on muscle biopsy

Autor: R. Kayani, Elizabeth Wraige, Heinz Jungbluth, Safa Al-Sarraj, Matthew Pitt, Istvan Bodi, S. V. Tan, M. Irving, K. Forrest, Marilyn McDougall, Andrew Durward

Publikováno v: Neuromuscular Disorders. 19:588-589

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9b6db4e17781f672c044a3368a279afc
https://doi.org/10.1016/j.nmd.2009.06.144

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Hypothesis on the pathogenesis of vacuolar myelopathy, dementia, and peripheral neuropathy in AIDS

Autor: R J Guiloff, S V Tan

Certain aspects of the clinical syndrome of dementia, cerebral atrophy, predominantly sensory neuropathy, and vacuolar myelopathy in AIDS resemble those seen in vitamin B12 deficiency. Pathologically, there are similarities not only in the changes in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40ce149908f3931a90870e79624ee9b3
https://europepmc.org/articles/PMC2170156/

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