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A genetic study of idiopathic focal dystonias

Autor: H. M. Waddy, A. E. Harding, C. D. Marsden, N. A. Fletcher

Publikováno v: Annals of Neurology. 29:320-324

A genetic study of idiopathic focal dystonias was undertaken by examining 153 first-degree relatives of 40 index patients with torticollis (14 patients), other focal cranial dystonias (16 patients), and writer's cramp (10 patients). Nine relatives wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06b702b78076236b3fc8003fb5192a39
https://doi.org/10.1002/ana.410290315

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Hereditary motor and sensory neuropathies and hereditary spastic paraplegia: A magnetic stimulation study

Autor: D. Claus, H. M. Waddy, P. K. Thomas, N. M. F. Murray, A. E. Harding

Publikováno v: Annals of Neurology. 28:43-49

Central motor conduction to the small hand muscles was investigated in 59 patients with peroneal muscular atrophy and hereditary spastic paraplegia (HSP) by using transcranial magnetic brain stimulation. These comprised 20 patients with type I heredi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca9a65f23e0cf7cace4535b4eb4dc906
https://doi.org/10.1002/ana.410280109

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Evidence for locus heterogeneity in autosomal dominant torsion dystonia

Autor: C.D. Marsden, Mary B. Davis, A. E. Harding, Farhan Jalees Ahmad, H. M. Waddy, C.A. Oley

Publikováno v: Genomics. 15(1)

Idiopathic torsion dystonia (ITD) is most commonly an autosomal dominant disorder with reduced penetrance and variable expression. A locus on the distal long arm of chromosome 9 has been identified in one large non-Jewish and several Jewish families

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::951afd0218f5ad4fe86d6cccff0ddf8c
https://pubmed.ncbi.nlm.nih.gov/8432555

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The clinical spectrum of peripheral neuropathies associated with benign monoclonal IgM, IgG and IgA paraproteinaemia. Comparative clinical, immunological and nerve biopsy findings

Autor: K. B. Yeung, R. G. Will, Rosalind H.M. King, H. M. Waddy, P. K. Thomas, Richard A. C. Hughes, S. Leibowitz, Norman A. Gregson

Publikováno v: Journal of neurology. 238(7)

Observations have been made on a consecutive series of 62 patients with peripheral neuropathy associated with benign monoclonal paraproteinaemia. The paraprotein class was IgM in 46 cases, IgG in 11 and IgA in 5. Although showing variations between p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ab54c322ce6d152c9e7d551f8e8ab85
https://pubmed.ncbi.nlm.nih.gov/1660064

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Involvement of the central nervous system in chronic inflammatory demyelinating polyneuropathy: a clinical, electrophysiological and magnetic resonance imaging study

Autor: H. M. Waddy, P. K. Thomas, N. M. F. Murray, Allan G. Kermode, I. E. C. Ormerod

Publikováno v: Journal of neurology, neurosurgery, and psychiatry. 53(9)

In a consecutive series of 30 patients with chronic inflammatory demyelinating polyneuropathy (CIDP) minor clinical evidence of CNS involvement was found in five. Cranial magnetic resonance imaging (MRI) was performed in 28 and revealed abnormalities

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ede5ef2a76bc2ba2e4bc8a08b2a9e8d5
https://pubmed.ncbi.nlm.nih.gov/1564498

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Central motor conduction studies in hereditary degenerative disorders

Autor: H. M. Waddy, A. E. Harding, N. M. F. Murray, C.W. Hess, D. Claus, P. K. Thomas, K. R. Mills

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7f6272659ad7e90bd40ed9d60b70f932
https://doi.org/10.1016/b978-0-12-089445-1.50011-4

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Central motor conduction studies in tropical spastic paraparesis (TSP)

Autor: H. M. Waddy, D. Claus, N.M.F. Murray, P. Rudge

Publikováno v: Electroencephalography and Clinical Neurophysiology. 75:S160

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::145055593a133bb9f7afe830b1dd6d88
https://doi.org/10.1016/0013-4694(90)92301-c

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Focal cranial nerve involvement in chronic inflammatory demyelinating polyneuropathy: clinical and MRI evidence of peripheral and central lesions

Autor: I. E. C. Ormerod, P. K. Thomas, Lefkos T. Middleton, R. H. M. King, V. P. Misra, H. M. Waddy

Publikováno v: Journal of neurology. 236(7)

Five cases of chronic inflammatory demyelinating polyneuropathy are described in which cranial nerve involvement accompanied a more generalized neuropathy. Clinical, electrophysiological, radiological and nerve biopsy findings are presented. Cranial

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6e2d60bb14909e545cf6b28c98e9f8e
https://pubmed.ncbi.nlm.nih.gov/2809641

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Primary torsion dystonia: The search for genes is not over

Autor: Paul Jarman, Enza Maria Valente, Demetrius M. Maraganore, Georg Auburger, H M Waddy, T. G. Nygaard, Anna Rita Bentivoglio, Nicholas W. Wood, Barbara Leube, N del Grosso, Ryan J. Uitti, Emanuele Cassetta, Alberto Albanese, Marina Frontali, Susan B. Bressman

Publikováno v: Scopus-Elsevier

A GAG deletion in the DYT1 gene accounts for most early, limb onset primary torsion dystonia (PTD). The genetic bases for the more common adult onset and focal PTD are less well delineated. Genetic loci for an "intermediate dystonia" phenotype and fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68ab995693a0a775c40d720b99c8a88e
http://www.scopus.com/inward/record.url?eid=2-s2.0-0032805428&partnerID=MN8TOARS

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