Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Richard S. Boyle"'
Autor:
George D. Mellick, Jeremy R.B. Newman, John D. O'Sullivan, Richard S. Boyle, Peter A. Silburn
Publikováno v:
Journal of Clinical Neuroscience. 21:2145-2149
It is currently hypothesised that a combination of genetic and environmental factors underlies the development of idiopathic isolated dystonia (IID). In this study, we examined several possible environmental or other non-genetic factors that may infl
Autor:
Stefan Blum, Richard S. Boyle, George D. Mellick, Greg T. Sutherland, John D. O'Sullivan, Peter A. Silburn, Jeremy R.B. Newman, Nicole Limberg
Publikováno v:
Parkinsonism & Related Disorders. 18:351-357
Genes involved in familial dystonia syndromes (DYT genes) are ideal candidates for investigating whether common genetic variants influence the susceptibility to sporadic primary dystonia. To date, there have been few candidate gene studies for primar
Autor:
John D. O'Sullivan, Greg T. Sutherland, Peter A. Silburn, Gerhard A. Siebert, Richard S. Boyle, George D. Mellick, Jeremy R.B. Newman
Publikováno v:
Movement Disorders. 24:448-452
Familial Parkinsonism (PARK) genes are strong candidates for conferring susceptibility to common forms of PD. However, most studies to date have provided little evidence that their common variants substantially influence disease risk. Recently, mutat
Publikováno v:
Journal of neurology. 261(4)
Idiopathic-isolated focal dystonia (IIFD) is a movement disorder characterised by involuntary, sustained muscle contractions, leading to abnormal postures. Psychopathology is frequent in patients with IIFD, and while traditionally this was thought to
Publikováno v:
Journal of Clinical Neuroscience. 6:309-312
Patients with motor neuron disease (MND) (n=33) free of infection were assessed for symptoms of autoimmunity and evidence of peripheral immune activation. Clinical features of autoimmune disease and antinuclear antibodies Were notably absent in all p
Publikováno v:
Movement Disorders. 23:1789-1791
Autor:
Catharina Larsson, Richard S. Boyle, Peter A. Silburn, Garth A. Nicholson, Bin Tean Teh, Ian P. Blair, John D. Pollard, P. J. Nolan
Publikováno v:
Neurology. 50:1067-1073
We report a family with Noonan syndrome (NS), giant proximal nerve hypertrophy, and hereditary motor sensory neuropathy type 1A (HMSN1A). Five members of a family were found to have clinical features of NS. In all cases, NS was associated with giant
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 28(12)
Autor:
Paul Kubler, Richard S. Boyle, Richard C. W. Wong, Helen Brown, Nicole Limberg, Pamela A. McCombe, Christopher I Staples, Cecilie M. Lander, David Heyworth-Smith, Kerri Prain, Robert D. Henderson, P. Hogan, David Gillis, Stefan Blum, Michael Walsh, Peter I. Pillans
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry. 82(6)
Background Myasthenia gravis is an autoimmune disorder of the neuromuscular junction. Rituximab (RTX), a monoclonal antibody to CD20, leads to B lymphocyte depletion and has been used in some autoimmune disorders, including small case series of myast
Autor:
Glenda M. Halliday, George D. Mellick, Steven D. Wilton, John D. O'Sullivan, Frank L. Mastaglia, Peter A. Silburn, Dominic B. Rowe, Richard S. Boyle, Greg T. Sutherland, Tina Ly
Recent whole genome association studies provided little evidence that polymorphisms at the familial Parkinsonism loci influence the risk for Parkinson's disease (PD). However, these studies are not designed to detect the types of subtle effects that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5b167f36087e6fd919188df7ae2fc51
https://hdl.handle.net/2123/19675
https://hdl.handle.net/2123/19675