Results
author = "Orrell, R"
Outcome of ventilatory support for acute respiratory failure in motor neurone disease
Author(s) :
Bradley, M
,
Orrell, R
,
Clarke, J
,
Davidson, A
,
Williams, A
,
Kullmann, D
,
Hirsch, N
,
Howard, R
Description :
Objectives: To review the outcome of acute ventilatory support in patients presenting acutely with respiratory failure, either with an established diagnosis of motor neurone disease (MND) or with a clinical event where the diagnosis of MND has not yet been established.
Repository :
Europe PubMed Central
Language(s) :
English
Diffusion tensor imaging detects corticospinal tract involvement at multiple levels in amyotrophic lateral sclerosis
Author(s) :
Toosy, A
,
Werring, D
,
Orrell, R
,
Howard, R
,
King, M
,
Barker, G
,
Miller, D
,
Thompson, A
Description :
Background: Histopathological studies of amyotrophic lateral sclerosis (ALS) are of end stage disease. Diffusion tensor imaging (DTI) provides the opportunity to investigate indirectly corticospinal tract pathology of ALS in vivo.
Repository :
Europe PubMed Central
Language(s) :
English
Familial amyotrophic lateral sclerosis with a point mutation of SOD-1: intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles.
Description :
Mutations of SOD-1 have recently been associated with autosomal dominant familial amyotrophic lateral sclerosis (ALS). A patient is described with a 20 year duration of motor neuron disease, with clinical features of ALS, who was heterozygous for a point mutation ATT to ACT leading to substitution o...
Repository :
Europe PubMed Central
Language(s) :
English
Three new SOD-1 mutations in familial ALS.
Author(s) :
Enayat, ZE
,
Claus, A
,
Orrell, R
,
King, A
,
de, BJ
,
Ludolph, A
,
Bachus, R
,
Brockmuller, J
,
Chaudhuri, R
,
Radunovic, A
,
Shaw, C
Description :
Repository :
UCL Eprints
Language(s) :
Undetermined
A novel RAB7 mutation associated with ulcero-mutilating neuropathy
Author(s) :
Houlden, H.
,
King, R.H.M.
,
Muddle, J.R.
,
Warner, T.T.
,
Reilly, M.M.
,
Orrell, R.W.
,
Ginsberg, L.
Description :
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 neuropathy, developing in the teens and character...
Repository :
UCL Eprints
Language(s) :
English
The use of nerve and muscle biopsy in the diagnosis of vasculitis: a 5 year retrospective study
Author(s) :
Bennett, D L H
,
Groves, M
,
Blake, J
,
Holton, J L
,
King, R H M
,
Orrell, R W
,
Ginsberg, L
,
Reilly, M M
Description :
Repository :
Europe PubMed Central
Language(s) :
English
The Role of Common Copy Number Variation in Amyotrophic Lateral Sclerosis (ALS)
Author(s) :
Wain, LV
,
Shrine, NRG
,
Shaw, C
,
Powell, JF
,
Hardy, J
,
Shaw, P
,
Morrison, KE
,
Brown, RH
,
Orrell, R
,
Mok, B
,
Palmer, LJ
,
Hui, J
Description :
Repository :
UCL Eprints
Language(s) :
Undetermined
The association between ALS and population density: A population based study.
Author(s) :
Scott, KM
,
Abhinav, K
,
Wijesekera, L
,
Ganesalingam, J
,
Goldstein, LH
,
Janssen, A
,
Dougherty, A
,
Willey, E
,
Stanton, BR
Description :
We aimed to assess whether rural residence is associated with amyotrophic lateral sclerosis in the south-east of England using a population based register. Previous studies in different populations have produced contradictory findings. Residence defined by London borough or non-metropolitan district...
Repository :
UCL Eprints
Language(s) :
English
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis
Author(s) :
Chio, A.
,
Schymick, J. C.
,
Restagno, G.
,
Scholz, S. W.
,
Lombardo, F.
,
Lai, S.-L.
,
Mora, G.
,
Fung, H.-C.
,
Britton, A.
Description :
The cause of sporadic amyotrophic lateral sclerosis (ALS) is largely unknown, but genetic factors are thought to play a significant role in determining susceptibility to motor neuron degeneration. To identify genetic variants altering risk of ALS, we undertook a two-stage genome-wide association stu...
Repository :
UCL Eprints
Language(s) :
English
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Author(s) :
Renton, A.E.
,
Majounie, E.
,
Waite, A.
,
Simon-Sanchez, J.
,
Rollinson, S.
,
Gibbs, J.R.
,
Schymick, J.C.
,
Laaksovirta, H.
Description :
Repository :
DSpace at Vrije Universiteit Amsterdam
Language(s) :
Undetermined