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1.  What is the function of auditory cortex without auditory input? 
Brain : a journal of neurology  2015;138(Pt 9):2468-2470.
doi:10.1093/brain/awv197
PMCID: PMC4920248  PMID: 26304150
2.  Sleep apnoea, heart failure, and atrial fibrillation—quo vadis? 
Nature reviews. Cardiology  2015;12(5):263-264.
Strong associations exist between sleep disordered breathing (SDB) and both heart failure (HF) and atrial fibrillation (AF). Burgeoning epidemics of obesity, SDB, HF, and AF make these conditions priorities for health-care policymakers. Two observational studies now suggest outcome benefits from screening and treating for SDB in AF and HF.
doi:10.1038/nrcardio.2015.31
PMCID: PMC4557808  PMID: 25781416
3.  Music, memory and mechanisms in Alzheimer’s disease 
Brain  2015;138(8):2122-2125.
This scientific commentary refers to ‘Why musical memory can be preserved in advanced Alzheimer’s disease’, by Jacobsen et al. (doi:10.1093/brain/awv135).
doi:10.1093/brain/awv148
PMCID: PMC4511859  PMID: 26205838
4.  Theta-burst transcranial magnetic stimulation in depression: when less may be more 
Brain  2014;137(7):1860-1862.
doi:10.1093/brain/awu123
PMCID: PMC4065025  PMID: 24833712
6.  Predictors of early-onset cognitive impairment 
Brain  2014;137(5):1280-1281.
doi:10.1093/brain/awu089
PMCID: PMC3999725  PMID: 24771400
7.  ‘That DAT’ gene that causes dystonia-parkinsonism: broadening the phenotype 
Brain  2014;137(4):976-977.
doi:10.1093/brain/awu056
PMCID: PMC3959562  PMID: 24648054
8.  Mechanisms of deep brain stimulation for essential tremor 
Brain  2014;137(1):4-6.
doi:10.1093/brain/awt347
PMCID: PMC3891452  PMID: 24424913
9.  The expanding spectrum of aetiologies causing retinal microcystic macular change 
Brain  2013;136(11):3212-3214.
doi:10.1093/brain/awt295
PMCID: PMC3900871  PMID: 24131594
10.  Adrenoleukodystrophy and the mitochondrial connection: clues for supplementing Lorenzo’s oil 
Brain  2013;136(8):2339-2341.
doi:10.1093/brain/awt189
PMCID: PMC3722355  PMID: 23842565
11.  One complex world of mitochondrial parkinsonism 
Brain  2013;136(8):2336-2341.
doi:10.1093/brain/awt199
PMCID: PMC3722358  PMID: 23884808
12.  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).
doi:10.1093/brain/awu147
PMCID: PMC4107741  PMID: 25057129
14.  Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes 
Brain  2013;136(3):692-695.
doi:10.1093/brain/awt042
PMCID: PMC3580274  PMID: 23436500
15.  Complication begets clarification in classification 
Brain  2013;136(2):368-373.
doi:10.1093/brain/awt001
PMCID: PMC3572928  PMID: 23413256
16.  Sex, drugs and Parkinson’s disease 
Brain  2013;136(2):371-373.
doi:10.1093/brain/awt022
PMCID: PMC3572930  PMID: 23413258
17.  What happens to your hearing if you are born blind? 
Brain  2014;137(1):6-8.
doi:10.1093/brain/awt346
PMCID: PMC3891451  PMID: 24424914
18.  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.
doi:10.1093/brain/awh113
PMCID: PMC3838940  PMID: 14990535
20.  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.
doi:10.1093/brain/aws102
PMCID: PMC3359754  PMID: 22577215
hereditary myopathy with early respiratory failure; cytoplasmic body; titin; exome sequencing; distal myopathy
21.  Harnessing neuroplasticity for clinical applications 
Brain  2012;135(4):e215.
doi:10.1093/brain/aws017
PMCID: PMC3326250  PMID: 22374936
23.  Human prion diseases: progress in clinical trials 
Brain  2013;136(4):996-997.
doi:10.1093/brain/awt075
PMCID: PMC3613718  PMID: 23550111
24.  Corrigendum 
Brain  2011;135(4):1335.
doi:10.1093/brain/awr029
PMCID: PMC3871188
25.  Extending the clinical spectrum of pain channelopathies 
Brain  2012;135(2):313-316.
doi:10.1093/brain/aws007
PMCID: PMC3281474  PMID: 22345085

Results 1-25 (42)