Search

This book is an excellent resource for students in law, criminology, policing and social work as well as practitioners and policymakers; indeed, anyone seeking to understand the complexities of Australian Courts.

Contains fulltext : 231686.pdf (Publisher’s version ) (Open Access), Mutations in the sarcomeric protein titin, encoded by TTN, are emerging as a common cause of myopathies. The diagnosis of a TTN-related myopathy is, however, often not straightforward due to clinico-pathological overlap with other myopathies and the prevalence of TTN variants in control populations. Here, we present a combined clinico-pathological, genetic and biophysical approach to the diagnosis of TTN-related myopathies and the pathogenicity ascertainment of TTN missense variants. We identified 30 patients with a primary TTN-related congenital myopathy (CM) and two truncating variants, or one truncating and one missense TTN variant, or homozygous for one TTN missense variant. We found that TTN-related myopathies show considerable overlap with other myopathies but are strongly suggested by a combination of certain clinico-pathological features. Presentation was typically at birth with the clinical course characterized by variable progression of weakness, contractures, scoliosis and respiratory symptoms but sparing of extraocular muscles. Cardiac involvement depended on the variant position. Our biophysical analyses demonstrated that missense mutations associated with CMs are strongly destabilizing and exert their effect when expressed on a truncating background or in homozygosity. We hypothesise that destabilizing TTN missense mutations phenocopy truncating variants and are a key pathogenic feature of recessive titinopathies that might be amenable to therapeutic intervention.

Theorises the application of Habeas Corpus to release prisoners at risk of Covid-19

Reviewing the application of the civil penalty privilege to death in custody inquests

A submission to the NSW Parliament Law and Justice Committee Inquiry into the amendment of Double Jeopardy laws in New South Wales in relation to the Bowraville Murders and the decision of Attorney General v XX [2018] NSWCCA 198.

Analysis of the judgment of the Court of Appeal in Attorney General v XX [2018] NSWCCA 198 and its implications for practitioners briefed in attempts to retry accused under the double jeopardy provisions of the Crimes (Appeal and Review) Act 2006.

Supplementary Submission to the NSW Parliament Law and Justice Committee's Inquiry into the amendment of Double Jeopardy Law in New South Wales in response to the Bowraville Murders and Attorney General v XX [2018] NSWCCA 198.

There is a growing pool of research on court outcomes in sentencing Indigenous people but relatively little research on the information available to sentencing courts to consider Indigenous background. Although Australian courts mostly have discretion to consider Indigenous circumstances, such consideration depends on submissions and reports tendered in court. The High Court in Bugmy v The Queen (2013) stated “it is necessary to point to material tending to establish [the defendant’s deprived] background” if it is to be relevant in sentencing.1 The main repository of court information on defendant background is counsel submissions and, where the defendant is facing imprisonment, Community Corrections’ Presentence Reports. Based on 18 interviews with judicial officers, lawyers and court staff in New South Wales and Victoria, this article identifies the need for more information on relevant Indigenous background factors in sentencing. The introduction of discrete Indigenous community reports that present Indigenous perspectives on the person’s background and rehabilitation was regarded as important for addressing the Bugmy requirement. This article makes reference to the wide-scale experience in Canada of First Nations presentence reports, known as “Gladue Reports”, and the more small-scale Australian experiences of Indigenous cultural reports, to indicate how this material can enhance individualised justice in sentencing Indigenous peoples.

© The Author(s) 2017. Indigenous peoples in Australia, the United States and Canada are significantly overrepresented as defendants in criminal trials and yet vastly underrepresented on juries in criminal trials. This means that all-white juries mostly determine the guilt of Indigenous defendants or white defendants responsible for harming Indigenous victims. In this article, we explore cases in which Indigenous defendants have perceived that an all-white jury's prejudice against Indigenous people would prevent them receiving a fair trial. It focuses on Indigenous defendants (often facing charges in relation to protesting against white racism) challenging the array of all-white juries. Across these cases, Australian courts rely on formal notions of fairness in jury selection to dismiss the Indigenous defendant's perception of bias and foreclose an inquiry into the potential prejudices of white jurors. We compare the Australian judicial 'colour-blindness' towards all-white juries with that of the United States and Canada. We argue that the tendency for courts in the United States and Canada to question jurors on their biases provides useful lessons for Australian judiciaries, including in relation to the impending trials of Indigenous defendants in Kalgoorlie, Western Australia, accused of committing crimes in response to white racist violence. Nonetheless, across all jurisdictions where there is a challenge to the array based on racial composition, courts consistently uphold all-white juries. We suggest that the judicial view of the racial neutrality of white jury selection misapprehends the substantive biases in jury selection and the injustice perceived by defendants in having a white jury adjudicate an alleged crime that is committed in circumstances involving protest against white prejudice.

To assess the clinical course and genotype-phenotype correlations in patients with selenoprotein-related myopathy (SEPN1-RM) due to selenoprotein N1 gene (SEPN1) mutations for a retrospective cross-sectional study.

1 februari 2010, Contains fulltext : 88054_2.pdf (publisher's version ) (Closed access) Contains fulltext : 88054.pdf (author's version ) (Open Access), Spinal muscular atrophies (SMA, also known as hereditary motor neuropathies) and hereditary motor and sensory neuropathies (HMSN) are clinically and genetically heterogeneous disorders of the peripheral nervous system. Here we report that mutations in the TRPV4 gene cause congenital distal SMA, scapuloperoneal SMA, HMSN 2C. We identified three missense substitutions (R269H, R315W and R316C) affecting the intracellular N-terminal ankyrin domain of the TRPV4 ion channel in five families. Expression of mutant TRPV4 constructs in cells from the HeLa line revealed diminished surface localization of mutant proteins. In addition, TRPV4-regulated Ca(2+) influx was substantially reduced even after stimulation with 4alphaPDD, a TRPV4 channel-specific agonist, and with hypo-osmotic solution. In summary, we describe a new hereditary channelopathy caused by mutations in TRPV4 and present evidence that the resulting substitutions in the N-terminal ankyrin domain affect channel maturation, leading to reduced surface expression of functional TRPV4 channels.

Contains fulltext : 58690.pdf (publisher's version ) (Closed access)