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Author Russell C Dale

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Maternal immune-related conditions during pregnancy may be a risk factor for neuropsychiatric problems in offspring throughout childhood and adolescence.

Shrujna Patel, Matthew N Cooper, Hannah Jones, Andrew J O Whitehouse, Russell C Dale, Adam J Guastella,

BACKGROUND:Emerging research suggests that maternal immune activation (MIA) may be associated with an increased risk of adverse neurodevelopmental and mental health outcomes in offspring. Using data from the Raine Study, we investigated whether MIA during pregnancy was associated with increased behavioral and emotional problems in offspring longitudinally across development. METHODS:Mothers ... Read more >>

Psychol Med (Psychological medicine)
[2020, :1-11]

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Autoimmune pediatric neuropsychiatric symptoms with pain and hypertension: CASPR2 antibody.

Russell C Dale, Kevin Rostásy,

Neurology (Neurology)
[2020, :]

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Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.

Hannah Lewis, Debopam Samanta, Jenny-Li Örsell, Katherine A Bosanko, Amy Rowell, Melissa Jones, Russell C Dale, Sasidharan Taravath, Cecil D Hahn, Deepa Krishnakumar, Sarah Chagnon, Stephanie Keller, Eveline Hagebeuk, Sheel Pathak, E Martina Bebin, Daniel H Arndt, John J Alexander, Gayatra Mainali, Giangennaro Coppola, Jane Maclean, Steven Sparagana, Nancy McNamara, Douglas M Smith, Víctor Raggio, Marcos Cruz, Alberto Fernández-Jaén, Maina P Kava, Lisa Emrick, Jennifer L Fish, Adeline Vanderver, Guy Helman, Tyler M Pierson, Yuri A Zarate,

BACKGROUND:Seizures are an under-reported feature of the SATB2-associated syndrome phenotype. We describe the electroencephalographic findings and seizure semiology and treatment in a population of individuals with SATB2-associated syndrome. METHODS:We performed a retrospective review of 101 individuals with SATB2-associated syndrome who were reported to have had a previous electroencephalographic study to ... Read more >>

Pediatr. Neurol. (Pediatric neurology)
[2020, :]

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Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence.

Hugo Morales-Briceño, Shekeeb S Mohammad, Bart Post, Alessandro F Fois, Russell C Dale, Michel Tchan, Victor S C Fung,

Genetic early-onset parkinsonism presenting from infancy to adolescence (≤21 years old) is a clinically diverse syndrome often combined with other hyperkinetic movement disorders, neurological and imaging abnormalities. The syndrome is genetically heterogeneous, with many causative genes already known. With the increased use of next-generation sequencing in clinical practice, there have ... Read more >>

Brain (Brain : a journal of neurology)
[2020, 143(3):751-770]

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Effects of the Positive Threshold and Data Analysis on Human MOG Antibody Detection by Live Flow Cytometry.

Fiona Tea, Deepti Pilli, Sudarshini Ramanathan, Joseph A Lopez, Vera Merheb, Fiona X Z Lee, Alicia Zou, Ganesha Liyanage, Chelsea B Bassett, Selina Thomsen, Stephen W Reddel, Michael H Barnett, David A Brown, Russell C Dale, Fabienne Brilot, ,

Human autoantibodies targeting myelin oligodendrocyte glycoprotein (MOG Ab) have become a useful clinical biomarker for the diagnosis of a spectrum of inflammatory demyelinating disorders. Live cell-based assays that detect MOG Ab against conformational MOG are currently the gold standard. Flow cytometry, in which serum binding to MOG-expressing cells and control ... Read more >>

Front Immunol (Frontiers in immunology)
[2020, 11:119]

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International multicenter examination of MOG antibody assays.

Markus Reindl, Kathrin Schanda, Mark Woodhall, Fiona Tea, Sudarshini Ramanathan, Jessica Sagen, James P Fryer, John Mills, Bianca Teegen, Swantje Mindorf, Nora Ritter, Ulrike Krummrei, Winfried Stöcker, Juliane Eggert, Eoin P Flanagan, Melanie Ramberger, Harald Hegen, Kevin Rostasy, Thomas Berger, Maria Isabel Leite, Jacqueline Palace, Sarosh R Irani, Russell C Dale, Christian Probst, Monika Probst, Fabienne Brilot, Sean J Pittock, Patrick Waters,

OBJECTIVE:To compare the reproducibility of 11 antibody assays for immunoglobulin (Ig) G and IgM myelin oligodendrocyte glycoprotein antibodies (MOG-IgG and MOG-IgM) from 5 international centers. METHODS:The following samples were analyzed: MOG-IgG clearly positive sera (n = 39), MOG-IgG low positive sera (n = 39), borderline negative sera (n = 13), ... Read more >>

Neurol Neuroimmunol Neuroinflamm (Neurology(R) neuroimmunology & neuroinflammation)
[2020, 7(2):]

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Clinical approach to the diagnosis of autoimmune encephalitis in the pediatric patient.

Tania Cellucci, Heather Van Mater, Francesc Graus, Eyal Muscal, William Gallentine, Marisa S Klein-Gitelman, Susanne M Benseler, Jennifer Frankovich, Mark P Gorman, Keith Van Haren, Josep Dalmau, Russell C Dale,

OBJECTIVE:Autoimmune encephalitis (AE) is an important and treatable cause of acute encephalitis. Diagnosis of AE in a developing child is challenging because of overlap in clinical presentations with other diseases and complexity of normal behavior changes. Existing diagnostic criteria for adult AE require modification to be applied to children, who ... Read more >>

Neurol Neuroimmunol Neuroinflamm (Neurology(R) neuroimmunology & neuroinflammation)
[2020, 7(2):]

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The clinical profile of NMOSD in Australia and New Zealand.

Wajih Bukhari, Laura Clarke, Cullen O'Gorman, Elham Khalilidehkordi, Simon Arnett, Kerri M Prain, Mark Woodhall, Roger Silvestrini, Christine S Bundell, Sudarshini Ramanathan, David Abernethy, Sandeep Bhuta, Stefan Blum, Mike Boggild, Karyn Boundy, Bruce J Brew, Wallace Brownlee, Helmut Butzkueven, William M Carroll, Celia Chen, Alan Coulthard, Russell C Dale, Chandi Das, Keith Dear, Marzena J Fabis-Pedrini, David Fulcher, David Gillis, Simon Hawke, Robert Heard, Andrew P D Henderson, Saman Heshmat, Suzanne Hodgkinson, Sofia Jimenez-Sanchez, Trevor J Kilpatrick, John King, Chris Kneebone, Andrew J Kornberg, Jeannette Lechner-Scott, Ming-Wei Lin, Christopher Lynch, Richard A L Macdonnell, Deborah F Mason, Pamela A McCombe, Jennifer Pereira, John D Pollard, Stephen W Reddel, Cameron Shaw, Judith Spies, James Stankovich, Ian Sutton, Steve Vucic, Michael Walsh, Richard C Wong, Eppie M Yiu, Michael H Barnett, Allan G Kermode, Mark P Marriott, John Parratt, Mark Slee, Bruce V Taylor, Ernest Willoughby, Robert J Wilson, Fabienne Brilot, Angela Vincent, Patrick Waters, Simon A Broadley,

Neuromyelitis optica spectrum disorders (NMOSD) are an inflammation of the central nervous system associated with autoantibodies to aquaporin-4. We have undertaken a clinic-based survey of NMOSD in the Australia and New Zealand populations with the aim of characterising the clinical features and establishing the value of recently revised diagnostic criteria. ... Read more >>

J. Neurol. (Journal of neurology)
[2020, 267(5):1431-1443]

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Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy.

Lynette G Sadleir, Kristy L Kolc, Chontelle King, Heather C Mefford, Russell C Dale, Jozef Gecz, Ingrid E Scheffer,

BACKGROUND:PCDH19 Girls clustering epilepsy (GCE) has a phenotypic spectrum that includes developmental and epileptic encephalopathy. PCDH19-GCE presents with clusters of seizures in the first years of life. Although patients typically outgrow their seizures, many are left with intellectual disability. Here we retrospectively assess the effect of levetiracetam in two independent ... Read more >>

Eur. J. Paediatr. Neurol. (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society)
[2020, 24:142-147]

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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.

Gillian I Rice, Sehoon Park, Francesco Gavazzi, Laura A Adang, Loveline A Ayuk, Lien Van Eyck, Luis Seabra, Christophe Barrea, Roberta Battini, Alexandre Belot, Stefan Berg, Thierry Billette de Villemeur, Annette E Bley, Lubov Blumkin, Odile Boespflug-Tanguy, Tracy A Briggs, Elise Brimble, Russell C Dale, Niklas Darin, François-Guillaume Debray, Valentina De Giorgis, Jonas Denecke, Diane Doummar, Gunilla Drake Af Hagelsrum, Despina Eleftheriou, Margherita Estienne, Elisa Fazzi, François Feillet, Jessica Galli, Nicholas Hartog, Julie Harvengt, Bénédicte Heron, Delphine Heron, Diedre A Kelly, Dorit Lev, Virginie Levrat, John H Livingston, Itxaso Marti, Cyril Mignot, Fanny Mochel, Marie-Christine Nougues, Ilena Oppermann, Belén Pérez-Dueñas, Bernt Popp, Mathieu P Rodero, Diana Rodriguez, Veronica Saletti, Cia Sharpe, Davide Tonduti, Gayatri Vadlamani, Keith Van Haren, Miguel Tomas Vila, Julie Vogt, Evangeline Wassmer, Arnaud Wiedemann, Callum J Wilson, Ayelet Zerem, Christiane Zweier, Sameer M Zuberi, Simona Orcesi, Adeline L Vanderver, Sun Hur, Yanick J Crow,

IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi-Goutières syndrome and Singleton Merten syndrome. Ascertaining patients through a European and North American collaboration, we set out to describe the molecular, clinical and interferon status of a cohort of ... Read more >>

Hum. Mutat. (Human mutation)
[2020, 41(4):837-849]

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Neuromyelitis Optica Spectrum Disorder and Anti-Aquaporin 4 Channel Immunoglobulin in an Australian Pediatric Demyelination Cohort.

Ariel Dahan, Fabienne Brilot, Richard Leventer, Andrew J Kornberg, Russell C Dale, Eppie M Yiu,

Neuromyelitis optica spectrum disorder is uncommon in children, and often seronegative for aquaporin-4 immunoglobulin G (AQP4-IgG). We conducted a retrospective study of 67 children presenting to a single Australian center with acquired demyelinating syndromes over a 7-year period. All patients were tested for AQP4-IgG. Five children (7.5%) had neuromyelitis optica ... Read more >>

J. Child Neurol. (Journal of child neurology)
[2020, 35(4):291-296]

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Yield of comparative genomic hybridization microarray in pediatric neurology practice.

Shibalik Misra, Greg Peters, Elizabeth Barnes, Simone Ardern-Holmes, Richard Webster, Christopher Troedson, Shekeeb S Mohammad, Deepak Gill, Manoj Menezes, Sachin Gupta, Peter Procopis, Jayne Antony, Manju A Kurian, Russell C Dale,

Objective:The present study investigated the diagnostic yield of array comparative genomic hybridization (aCGH) in a large cohort of children with diverse neurologic disorders as seen in child neurology practice to test whether pathogenic copy number variants (CNVs) were more likely to be detected in specific neurologic phenotypes. Methods:A retrospective cross-sectional ... Read more >>

Neurol Genet (Neurology. Genetics)
[2019, 5(6):e367]

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Characterization of the human myelin oligodendrocyte glycoprotein antibody response in demyelination.

Fiona Tea, Joseph A Lopez, Sudarshini Ramanathan, Vera Merheb, Fiona X Z Lee, Alicia Zou, Deepti Pilli, Ellis Patrick, Anneke van der Walt, Mastura Monif, Esther M Tantsis, Eppie M Yiu, Steve Vucic, Andrew P D Henderson, Anthony Fok, Clare L Fraser, Jeanette Lechner-Scott, Stephen W Reddel, Simon Broadley, Michael H Barnett, David A Brown, Jan D Lunemann, Russell C Dale, Fabienne Brilot, ,

Over recent years, human autoantibodies targeting myelin oligodendrocyte glycoprotein (MOG Ab) have been associated with monophasic and relapsing central nervous system demyelination involving the optic nerves, spinal cord, and brain. While the clinical relevance of MOG Ab detection is becoming increasingly clear as therapeutic and prognostic differences from multiple sclerosis ... Read more >>

Acta Neuropathol Commun (Acta neuropathologica communications)
[2019, 7(1):145]

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Letter to the editor.

Russell C Dale,

J Paediatr Child Health (Journal of paediatrics and child health)
[2019, 55(10):1289]

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Causes and Clinical Features of Childhood Encephalitis: A Multicenter, Prospective Cohort Study.

Philip N Britton, Russell C Dale, Christopher C Blyth, Julia E Clark, Nigel Crawford, Helen Marshall, Elizabeth J Elliott, Kristine Macartney, Robert Booy, Cheryl A Jones,

BACKGROUND:We aimed to determine the contemporary causes, clinical features, and short-term outcome of encephalitis in Australian children. METHODS:We prospectively identified children (≤14 years of age) admitted with suspected encephalitis at 5 major pediatric hospitals nationally between May 2013 and December 2016 using the Paediatric Active Enhanced Disease Surveillance (PAEDS) Network. ... Read more >>

Clin. Infect. Dis. (Clinical infectious diseases : an official publication of the Infectious Diseases Society of America)
[2019, :]

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Sensory dysregulation in tic disorders is associated with executive dysfunction and comorbidities.

Nicolette Soler, Chris Hardwick, Iain E Perkes, Shekeeb S Mohammad, David Dossetor, Kenneth Nunn, Paula Bray, Russell C Dale,

BACKGROUND:Tics are conceptualized as a sensorimotor phenomenon with a premonitory urge typically described by patients. As observed in other neurodevelopmental disorders, we have observed sensory dysregulation symptoms, such as tactile hypersensitivity to clothing, in children with tic disorders; however, formal clinical research in this area is limited. OBJECTIVE:To define the ... Read more >>

Mov. Disord. (Movement disorders : official journal of the Movement Disorder Society)
[2019, 34(12):1901-1909]

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Neuropsychological outcomes of childhood acute necrotizing encephalopathy.

Tracey A Williams, Ruth K Brunsdon, Karen L O Burton, Suzi Drevensek, Candice Brady, Russell C Dale, Shekeeb S Mohammad,

Acute necrotizing encephalopathy (ANE) is a rare form of acute encephalopathy, predominantly occurring in childhood, which has a typical radiological phenotype including bilateral, symmetrical, diffusion-restricted lesions of the thalami; posterior putamen; cerebellum; and brainstem. To date, no study has systematically examined the long-term cognitive and psychological impact of ANE. The ... Read more >>

Brain Dev. (Brain & development)
[2019, 41(10):894-900]

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Etiology is the key determinant of neuroinflammation in epilepsy: Elevation of cerebrospinal fluid cytokines and chemokines in febrile infection-related epilepsy syndrome and febrile status epilepticus.

Kavitha Kothur, Sushil Bandodkar, Louise Wienholt, Stephanie Chu, Alun Pope, Deepak Gill, Russell C Dale,

OBJECTIVE:To investigate intrathecal inflammation using cerebrospinal fluid (CSF) cytokines and chemokines in a subgroup of pediatric epilepsy patients with frequent daily seizures. METHODS:We measured 32 cytokines/chemokines using multiplex immunoassay in CSF collected from pediatric patients with febrile infection-related epilepsy syndrome (FIRES)/FIRES-related disorders (FRD; n = 6), febrile status epilepticus (FSE; n = 8), afebrile ... Read more >>

Epilepsia (Epilepsia)
[2019, 60(8):1678-1688]

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Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS.

Matthieu Gratia, Mathieu P Rodero, Cécile Conrad, Elias Bou Samra, Mathieu Maurin, Gillian I Rice, Darragh Duffy, Patrick Revy, Florence Petit, Russell C Dale, Yanick J Crow, Mounira Amor-Gueret, Nicolas Manel,

Cellular innate immune sensors of DNA are essential for host defense against invading pathogens. However, the presence of self-DNA inside cells poses a risk of triggering unchecked immune responses. The mechanisms limiting induction of inflammation by self-DNA are poorly understood. BLM RecQ-like helicase is essential for genome integrity and is ... Read more >>

J. Exp. Med. (The Journal of experimental medicine)
[2019, 216(5):1199-1213]

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Current therapies and therapeutic decision making for childhood-onset movement disorders.

Shekeeb S Mohammad, Simon P Paget, Russell C Dale,

Movement disorders differ in children to adults. First, neurodevelopmental movement disorders such as tics and stereotypies are more prevalent than parkinsonism, and second, there is a genomic revolution which is now explaining many early-onset dystonic syndromes. We outline an approach to children with movement disorders starting with defining the movement ... Read more >>

Mov. Disord. (Movement disorders : official journal of the Movement Disorder Society)
[2019, 34(5):637-656]

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Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation.

Hannah F Jones, Hugo Morales-Briceño, Katy Barwick, Jennifer Lewis, Alba Sanchis-Juan, F Lucy Raymond, Kirsty Stewart, Mary-Clare Waugh, Neil Mahant, Manju A Kurian, Russell C Dale, Shekeeb S Mohammad,

Mov. Disord. (Movement disorders : official journal of the Movement Disorder Society)
[2019, 34(7):1079-1080]

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Maternal thyroid autoimmunity associated with acute-onset neuropsychiatric disorders and global regression in offspring.

Hannah F Jones, Alvin C C Ho, Suvasini Sharma, Shekeeb S Mohammad, Kavitha Kothur, Shrujna Patel, Fabienne Brilot, Adam J Guastella, Russell C Dale, ,

Epidemiological studies, animal models, and case-control studies indicate maternal immune activation may be an important factor involved in disease expression of autism spectrum disorder (ASD), Tourette syndrome, and obsessive-compulsive disorder (OCD). We report eight children (mean age 6y 6mo [range 4-15y]; six males and two females) referred over a 2-year ... Read more >>

Dev Med Child Neurol (Developmental medicine and child neurology)
[2019, 61(8):984-988]

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Therapeutic plasma exchange in paediatric neuroimmunology: some evidence but more is needed.

Margherita Nosadini, Russell C Dale,

Dev Med Child Neurol (Developmental medicine and child neurology)
[2019, 61(5):504-505]

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Magnetic resonance imaging in enterovirus-71, myelin oligodendrocyte glycoprotein antibody, aquaporin-4 antibody, and multiple sclerosis-associated myelitis in children.

Esther M Tantsis, Kristina Prelog, Gulay Alper, Leslie Benson, Mark Gorman, Ming Lim, Shekeeb S Mohammad, Sudarshini Ramanathan, Fabienne Brilot, Russell C Dale, ,

AIM:We used magnetic resonance imaging (MRI) to compare the neuroimaging of children with their first episode of clinical enterovirus 71-associated transverse myelitis (EV71-TM), myelin oligodendrocyte glycoprotein antibody positive transverse myelitis (MOG-TM), aquaporin-4 antibody positive transverse myelitis (AQP4-TM), transverse myelitis in multiple sclerosis (MS-TM), and unclassified transverse myelitis (UNC-TM). METHOD:We performed ... Read more >>

Dev Med Child Neurol (Developmental medicine and child neurology)
[2019, 61(9):1108-1116]

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An exploratory study into an adapted use of the Alert Program for tic disorder in children.

Nicolette Soler, Chris Hardwick, Iain E Perkes, David Dossetor, Paula Bray, Russell C Dale,

OBJECTIVES:This preliminary study explored whether an adapted approach to the Alert Program, that uses sensorimotor strategies, might assist with management of tic disorders in children. The Alert Program, a program that uses sensorimotor strategies for self-regulation in children with neurodevelopmental disorders, had not been trialled with children with tic disorders. ... Read more >>

Australas Psychiatry (Australasian psychiatry : bulletin of Royal Australian and New Zealand College of Psychiatrists)
[2019, 27(2):144-151]

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