Výsledky vyhledávání - "J. R. Muddle"

Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Autor: Thomas T. Warner, Mark Weatherall, Anthony H.V. Schapira, Elizabeth A. Mallam, Lionel Ginsberg, Mariza Daras, Jan-Willem Taanman, Charles A. Davie, Juliane Albrecht, J. R. Muddle

Publikováno v: Neuromuscular Disorders. 19:151-154

Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive disorder caused by loss-of-function mutations in the thymidine phosphorylase gene (TYMP). We report here a patient compound heterozygous for two TYMP mutations: a novel g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6eb458c6d0442df82e8ec75b63e561a
https://doi.org/10.1016/j.nmd.2008.11.002

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Platelet-Derived Growth Factor-β Receptor Activation Is Essential for Fibroblast and Pericyte Recruitment during Cutaneous Wound Healing

Autor: Christopher P. Denton, Mikael Ivarsson, J. R. Muddle, George Bou-Gharios, Bengt Gerdin, Carol M. Black, Vineeth Rajkumar, David Abraham, Xu Shiwen, Maria Bostrom, Patricia Leoni

Publikováno v: The American Journal of Pathology. 169:2254-2265

Connective tissue remodeling provides mammals with a rapid mechanism to repair wounds after injury. Inappropriate activation of this reparative process leads to scarring and fibrosis. Here, we studied the effects of platelet-derived growth factor rec

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https://doi.org/10.2353/ajpath.2006.060196

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Coexistent hereditary and inflammatory neuropathy

Autor: Rosalind H.M. King, Anthony R Kenton, J. R. Muddle, Richard W. Orrell, John B Winer, Omar Malik, Mary B Davis, David J. Sharp, Lionel Ginsberg

Publikováno v: Brain. 127:193-202

Classically, the course of Charcot-Marie-Tooth (CMT) disease is gradually progressive. We describe eight atypical patients who developed acute or subacute deterioration. Seven of these had genetically proven CMT disease type 1A (CMT1A) due to chromos

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https://doi.org/10.1093/brain/awh017

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A novel RAB7 mutation associated with ulcero-mutilating neuropathy

Autor: Thomas T. Warner, Henry Houlden, J. R. Muddle, Mary M. Reilly, Richard W. Orrell, Lionel Ginsberg, Rosalind H.M. King

Publikováno v: Annals of Neurology. 56:586-590

There are two known autosomal dominant genes for the hereditary ulcero-mutilating neuropathies: SPTLC1 (hereditary sensory neuropathy type 1) and RAB7 (Charcot-Marie-Tooth disease type 2B). We report a family with autosomal dominant ulcero-mutilating

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https://doi.org/10.1002/ana.20281

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Peripheral nerve regeneration in galactosaemic rats

Autor: J. M. Workman, P. K. Thomas, J. Wong, Rosalind H.M. King, J. R. Muddle, M. Nourallah

Publikováno v: Neuropathology and Applied Neurobiology. 28:381-389

The use of galactosaemia as a model for some aspects of diabetic polyneuropathy allows the influence of glycation to be studied independently of other effects. There are well-studied abnormalities of the peripheral nerves in galactosaemic rats, one o

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https://doi.org/10.1046/j.1365-2990.2002.00404.x

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Neurological manifestations in chronic mountain sickness: the burning feet-burning hands syndrome

Autor: Jorge L. Gamboa, P. K. Thomas, J. R. Muddle, M Vargas, Otto Appenzeller, R. Tapia, J. M. Workman, R. H. M. King, S F Feng

Publikováno v: Journal of Neurology, Neurosurgery & Psychiatry. 69:447-452

OBJECTIVE—To characterise the clinical features and nerve biopsy findings in patients with chronic mountain sickness (CMS) living in the Peruvian Andes, with particular attention to the occurrence of the "burning feet-burning hands" syndrome. METHO

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https://doi.org/10.1136/jnnp.69.4.447

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The extracellular matrix of peripheral nerve in diabetic polyneuropathy

Autor: Rosalind H.M. King, J. R. Muddle, J. L. Bradley, P. K. Thomas

Publikováno v: Acta Neuropathologica. 99:539-546

The pattern of collagenisation in peripheral nerve in diabetic polyneuropathy was examined in nerve biopsy specimens from patients with diabetic polyneuropathy in comparison with organ donor control nerves and disease controls (other neuropathies). T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bb787574158461f65177417e089c9a1
https://doi.org/10.1007/s004010051158

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Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome

Autor: Ivailo Tournev, K. Romanski, J. R. Muddle, P. K. Thomas, M. Nourallah, Rosalind H.M. King, Luba Kalaydjieva, J. M. Workman

Publikováno v: Acta Neuropathologica. 98:165-170

Observations have been made on the peripheral nerve changes in four patients, ranging in age from 4 to 32 years, with the congenital cataracts facial dysmorphism neuropathy syndrome. Myelinated fibre density was within normal limits. The salient abno

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https://doi.org/10.1007/s004010051065

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Neural architecture in transected rabbit sciatic nerve after prolonged nonreinnervation

Autor: D. A. Abernethy, P. K. Thomas, J. R. Muddle, J. L. Bradley, Rosalind H.M. King

Publikováno v: Journal of Anatomy. 192:529-538

Observations have been made on the rabbit sciatic nerve distal to a transection, with survival periods of up to 26 mo and prevention of reinnervation. It was confirmed that the nerve becomes compartmented by fibroblast processes and that a zone of fi

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https://doi.org/10.1046/j.1469-7580.1998.19240529.x

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Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings

Autor: R. H. M. King, Stella Stancheva, Iva Petkova, Lefkos T. Middleton, Luba Kalaydjieva, Amelia Nikolova, Ivo Turnev, J. R. Muddle, Anna Hristova, A. Trogu, Julia Petrova, Luciano Merlini, Alexander Shmarov, Boryana Ishpekova, P. K. Thomas

Publikováno v: Brain. 121:399-408

A previously unrecognized neuropathy was identified in Bulgarian gypsies, and was designated hereditary motor and sensory neuropathy-Lom (HMSNL) after the town where the initial cases were found. It was subsequently identified in other gypsy communit

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https://doi.org/10.1093/brain/121.3.399

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