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1.  Mechanisms of deep brain stimulation for essential tremor 
Brain  2014;137(1):4-6.
PMCID: PMC3891452  PMID: 24424913
2.  The expanding spectrum of aetiologies causing retinal microcystic macular change 
Brain  2013;136(11):3212-3214.
PMCID: PMC3900871  PMID: 24131594
3.  Adrenoleukodystrophy and the mitochondrial connection: clues for supplementing Lorenzo’s oil 
Brain  2013;136(8):2339-2341.
PMCID: PMC3722355  PMID: 23842565
4.  One complex world of mitochondrial parkinsonism 
Brain  2013;136(8):2336-2341.
PMCID: PMC3722358  PMID: 23884808
5.  On the modelling of seizure dynamics 
Brain  2014;137(8):2110-2113.
This scientific commentary refers to ‘On the nature of seizure dynamics’, by V. Jirsa et al. (doi:10.1093/brain/awu133).
PMCID: PMC4107741  PMID: 25057129
7.  Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes 
Brain  2013;136(3):692-695.
PMCID: PMC3580274  PMID: 23436500
8.  Complication begets clarification in classification 
Brain  2013;136(2):368-373.
PMCID: PMC3572928  PMID: 23413256
9.  Sex, drugs and Parkinson’s disease 
Brain  2013;136(2):371-373.
PMCID: PMC3572930  PMID: 23413258
10.  What happens to your hearing if you are born blind? 
Brain  2014;137(1):6-8.
PMCID: PMC3891451  PMID: 24424914
11.  Functional neuroimaging of schizophrenia: from a genetic predisposition to the emergence of symptoms 
Brain : a journal of neurology  2004;127(0 3):10.1093/brain/awh113.
PMCID: PMC3838940  PMID: 14990535
13.  Titin mutation segregates with hereditary myopathy with early respiratory failure 
Brain  2012;135(6):1695-1713.
In 2001, we described an autosomal dominant myopathy characterized by neuromuscular ventilatory failure in ambulant patients. Here we describe the underlying genetic basis for the disorder, and we define the neuromuscular, respiratory and radiological phenotype in a study of 31 mutation carriers followed for up to 31 years. A combination of genome-wide linkage and whole exome sequencing revealed the likely causal genetic variant in the titin (TTN) gene (g.274375T>C; p.Cys30071Arg) within a shared haplotype of 2.93 Mbp on chromosome 2. This segregated with the phenotype in 21 individuals from the original family, nine subjects in a second family with the same highly selective pattern of muscle involvement on magnetic resonance imaging and a third familial case with a similar phenotype. Comparing the mutation carriers revealed novel features not apparent in our original report. The clinical presentation included predominant distal, proximal or respiratory muscle weakness. The age of onset was highly variable, from early adulthood, and including a mild phenotype in advanced age. Muscle weakness was earlier onset and more severe in the lower extremities in nearly all patients. Seven patients also had axial muscle weakness. Respiratory function studies demonstrated a gradual deterioration over time, reflecting the progressive nature of this condition. Cardiomyopathy was not present in any of our patients despite up to 31 years of follow-up. Magnetic resonance muscle imaging was performed in 21 affected patients and revealed characteristic abnormalities with semitendinosus involvement in 20 of 21 patients studied, including 3 patients who were presymptomatic. Diagnostic muscle histopathology most frequently revealed eosinophilic inclusions (inclusion bodies) and rimmed vacuoles, but was non-specific in a minority of patients. These findings have important clinical implications. This disease should be considered in patients with adult-onset proximal or distal myopathy and early respiratory failure, even in the presence of non-specific muscle pathology. Muscle magnetic resonance imaging findings are characteristic and should be considered as an initial investigation, and if positive should prompt screening for mutations in TTN. With 363 exons, screening TTN presented a major challenge until recently. However, whole exome sequencing provides a reliable cost-effective approach, providing the gene of interest is adequately captured.
PMCID: PMC3359754  PMID: 22577215
hereditary myopathy with early respiratory failure; cytoplasmic body; titin; exome sequencing; distal myopathy
14.  Harnessing neuroplasticity for clinical applications 
Brain  2012;135(4):e215.
PMCID: PMC3326250  PMID: 22374936
16.  Human prion diseases: progress in clinical trials 
Brain  2013;136(4):996-997.
PMCID: PMC3613718  PMID: 23550111
17.  Corrigendum 
Brain  2011;135(4):1335.
PMCID: PMC3871188
18.  Extending the clinical spectrum of pain channelopathies 
Brain  2012;135(2):313-316.
PMCID: PMC3281474  PMID: 22345085
19.  Reply: The impact of dementia prevalence on the utility of the AD8 
Brain  2011;135(1):e204.
PMCID: PMC3267977
21.  The Charcot-Marie-Tooth diseases: how can we identify and develop novel therapeutic targets? 
Brain  2012;135(12):3527-3528.
PMCID: PMC3525062  PMID: 23250878
23.  What's wrong with the amygdala in temporal lobe epilepsy? 
Brain  2011;134(10):2800-2801.
PMCID: PMC3187545  PMID: 21921018
24.  Treatment of Leber hereditary optic neuropathy 
Brain  2011;134(9):2447-2450.
PMCID: PMC3202309  PMID: 21859767
25.  Tight squeeze, slow burn: inflammation and the aetiology of cervical myelopathy 
Brain  2011;134(5):1259-1261.
PMCID: PMC3139947  PMID: 21596766

Results 1-25 (34)