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2. Early administration of umbilical cord blood cells following brief high tidal volume ventilation in preterm sheep: a cautionary tale

Author

Tran, Nhi T., Penny, Tayla R., Chan, Kyra YY., Tang, Tanya, Papagianis, Paris C., Sepehrizadeh, Tara, Nekkanti, Lakshmi, Zahra, Valerie A., Pham, Yen, Yawno, Tamara, Nitsos, Ilias, Kelly, Sharmony B., Thiel, Alison M., de Veer, Michael, Alahmari, Dhafer M., Fahey, Michael C., Jenkin, Graham, Miller, Suzanne L., Galinsky, Robert, Polglase, Graeme R., and McDonald, Courtney A.

Published
2024
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6. Clinical Trial Protocol for PRIMARY2: A Multicentre, Phase 3, Randomised Controlled Trial Investigating the Additive Diagnostic Value of [68Ga]Ga-PSMA-11 Positron Emission Tomography/Computed Tomography in Men with Negative or Equivocal Multiparametric Magnetic Resonance Imaging for the Diagnosis of Clinically Significant Prostate Cancer

Author

Buteau, James P., Moon, Daniel, Fahey, Michael T., Roberts, Matthew J., Thompson, James, Murphy, Declan G., Papa, Nathan, Mitchell, Catherine, De Abreu Lourenco, Richard, Dhillon, Haryana M., Kasivisvanathan, Veeru, Francis, Roslyn J., Stricker, Phillip, Agrawal, Shihka, O'Brien, Jonathan, McVey, Aoife, Sharma, Gaurav, Levy, Sidney, Ayati, Narjess, Nguyen, Andrew, Lee, Su-Faye, Pattison, David A., Sivaratnam, Dinesh, Frydenberg, Mark, Du, Yang, Titus, Jehan, Lee, Sze-Ting, Ischia, Joseph, Jack, Greg, Hofman, Michael S., and Emmett, Louise

Published
2024
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7. The Knowledge Translation of Early Cerebral Palsy (KiTE CP) Study: Implementing Screening Among a High-Risk Prospective Cohort of Australian Infants

Author

Kwong, Amanda K.L., Eeles, Abbey L., Anderson, Peter J., Badawi, Nadia, Boyd, Roslyn N., Cameron, Kate L., Cheong, Jeanie L.Y., Colditz, Paul, Koorts, Pieter, Crowle, Cathryn, Dale, Russell C., Doyle, Lex W., Fahey, Michael, George, Joanne, Hunt, Rod W., McNamara, Lynda, Morgan, Catherine, Novak, Iona, Olsen, Joy E., Reid, Nadia, Rieger, Ingrid, Whittingham, Koa, and Spittle, Alicia J.

Published
2024
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11. A prospective, longitudinal, case–control study to evaluate the neurodevelopment of children from birth to adolescence exposed to COVID-19 in utero

Author

Hill, Rachel A., Malhotra, Atul, Sackett, Vathana, Williams, Katrina, Fahey, Michael, Palmer, Kirsten R., Hunt, Rod W., Darke, Hayley, Lim, Izaak, Newman-Morris, Vesna, Cheong, Jeanie L. Y., Whitehead, Clare, Said, Joanne, Bignardi, Paulo, Muraguchi, Evelin, Fernandes, Jr, Luiz Carlos C., Oliveira, Carlos, and Sundram, Suresh

Published
2023
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17. Reasons for Discontinuing Active Surveillance: Assessment of 21 Centres in 12 Countries in the Movember GAP3 Consortium

Author

Van Hemelrijck, Mieke, Ji, Xi, Helleman, Jozien, Roobol, Monique J, van der Linden, Wim, Nieboer, Daan, Bangma, Chris H, Frydenberg, Mark, Rannikko, Antti, Lee, Lui S, Gnanapragasam, Vincent J, Kattan, Mike W, Trock, Bruce, Ehdaie, Behfar, Carroll, Peter, Filson, Christopher, Kim, Jeri, Logothetis, Christopher, Morgan, Todd, Klotz, Laurence, Pickles, Tom, Hyndman, Eric, Moore, Caroline M, Gnanapragasam, Vincent, Dasgupta, Prokar, Bangma, Chris, Roobol, Monique, Villers, Arnauld, Valdagni, Riccardo, Perry, Antoinette, Hugosson, Jonas, Rubio-Briones, Jose, Bjartell, Anders, Hefermehl, Lukas, Shiong, Lee Lui, Kakehi, Yoshiyuki, Chung, Byung Ha, van der Kwast, Theo, Obbink, Henk, Hulsen, Tim, de Jonge, Cees, Kattan, Mike, Xinge, Ji, Muir, Kenneth, Lophatananon, Artitaya, Fahey, Michael, Steyerberg, Ewout, Zhang, Liying, Santa Olalla, Aida, Beckmann, Kerri, Denton, Brian, Hayen, Andrew, Boutros, Paul, Guo, Wei, Benfante, Nicole, Cowan, Janet, Patil, Dattatraya, Tolosa, Emily, Kim, Tae-Kyung, Mamedov, Alexandre, La Pointe, Vincent, Crump, Trafford, Kimberly-Duffell, Jenna, Santaolalla, Aida, Olivier, Jonathan, Rancati, Tiziana, Ahlgren, Helén, Mascarós, Juanma, Löfgren, Annica, Lehmann, Kurt, Lin, Catherine Han, Hirama, Hiromi, Lee, Kwang Suk, Jenster, Guido, Auvinen, Anssi, Haider, Masoom, van Bochove, Kees, Carter, Ballentine, Gledhill, Sam, Buzza, Mark, and Bruinsma, Sophie

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Oncology and Carcinogenesis, Prostate Cancer, Aging, Prevention, Urologic Diseases, Cancer, Good Health and Well Being, Aged, Asia, Australia, Biopsy, Cause of Death, Clinical Decision-Making, Databases, Factual, Disease Progression, Early Detection of Cancer, Europe, Humans, Kallikreins, Male, Middle Aged, North America, Patient Dropouts, Predictive Value of Tests, Prostate-Specific Antigen, Prostatic Neoplasms, Risk Assessment, Risk Factors, Time Factors, Watchful Waiting, Prostate cancer, Active surveillance, Discontinuation, Worldwide, Members of the Movember Foundation's Global Action Plan Prostate Cancer Active Surveillance GAP3 consortium, Urology & Nephrology, Clinical sciences
Abstract

BackgroundCareful assessment of the reasons for discontinuation of active surveillance (AS) is required for men with prostate cancer (PCa).ObjectiveUsing Movember's Global Action Plan Prostate Cancer Active Surveillance initiative (GAP3) database, we report on reasons for AS discontinuation.Design, setting, and participantsWe compared data from 10296 men on AS from 21 centres across 12 countries.Outcome measurements and statistical analysisCumulative incidence methods were used to estimate the cumulative incidence rates of AS discontinuation.Results and limitationsDuring 5-yr follow-up, 27.5% (95% confidence interval [CI]: 26.4-28.6%) men showed signs of disease progression, 12.8% (95% CI: 12.0-13.6%) converted to active treatment without evidence of progression, 1.7% (95% CI: 1.5-2.0%) continued to watchful waiting, and 1.7% (95% CI: 1.4-2.1%) died from other causes. Of the 7049 men who remained on AS, 2339 had follow-up for >5yr, 4561 had follow-up for

Published
2019

18. Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial

Author

Belousova, Elena, Belyaev, Oleg, Ben-Zeev, Bruria, Brunklaus, Andreas, Ciliberto, Michael A., Darra, Francesca, Davis, Ronald, De Giorgis, Valentina, Doronina, Olga, Fahey, Michael, Guerrini, Renzo, Heydemann, Peter, Khaletskaya, Olga, Lisewski, Pawel, Marsh, Eric D., Moosa, Ahsan N., Perry, Scott, Philip, Sunny, Rajaraman, Rajsekar R., Renfroe, Ben, Saneto, Russell P., Scheffer, Ingrid E., Sogawa, Yoshimi, Suter, Bernhardt, Sweney, Matthew T., Tarquinio, Daniel, Veggiotti, Pierangelo, Wallace, Geoff, Weisenberg, Judy, Wilfong, Angus, Wirrell, Elaine C., Zafar, Muhammad, Zolnowska, Marta, Knight, Elia M Pestana, Amin, Sam, Bahi-Buisson, Nadia, Benke, Tim A, Cross, J Helen, Demarest, Scott T, Olson, Heather E, Specchio, Nicola, Fleming, Thomas R, Aimetti, Alex A, Gasior, Maciej, and Devinsky, Orrin

Published
2022
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20. Normative cortical activation patterns in children distinguishing one or two tactile sensory inputs points: An functional MRI study.

Author

Donne, Jack H., Beare, Richard, Powell, Jennifer A., Fahey, Michael C., and Williams, Cylie M.

Subjects
FUNCTIONAL magnetic resonance imaging, PREFRONTAL cortex, PARIETAL lobe, CHILD patients, CHILD development, STIMULUS & response (Psychology)
Abstract

This study aims to determine if children follow the same cortical activation patterns as adults when responding to two‐point discrimination sensory stimuli during functional magnetic resonance imaging (fMRI). We recruited 15 children with typical development, aged between 8 and 16 years. These participants were asked to complete a two‐point discrimination test (task block) while undergoing an fMRI scan. In the two‐point stimulus test, strong activation compared to baseline was observed in the left and right frontal orbital cortex. The inferior parietal lobe also exhibited activity, particularly on the right side, with activation in both the supramarginal and angular gyri. Further activity was evident in the left supramarginal gyrus and the left paracingulate gyrus. This novel study on fMRI two‐point discrimination testing in children shows the activation patterns in key brain regions involved in somatosensory discrimination and decision making. Practical Applications: This study provides crucial normative data on cortical activation patterns during two‐point discrimination testing in typically developing children. Such data serve as a valuable reference point for future research investigating sensory processing and cognitive function in pediatric populations. Researchers can use these findings to establish benchmarks and compare cortical activation patterns in children with neurodevelopmental conditions. This information is essential for exploring pathology, which may affect tactile sensation techniques and developing targeted interventions tailored to individual needs in pediatric treatment. Additionally, it lays the groundwork for further exploration into the neural mechanisms underpinning somatosensory discrimination, potentially leading to advancements in understanding and treating sensory‐related disorders in children. [ABSTRACT FROM AUTHOR]

Published
2024
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21. Diagnostic findings and yield of investigations for children with developmental regression.

Author

Furley, Kirsten, Hunter, Matthew F., Fahey, Michael, and Williams, Katrina

Abstract

Childhood conditions that feature developmental regression are poorly understood. Phenotype–genotype characterization and diagnostic yield data are needed to inform clinical decision‐making. The aim of this study was to report the conditions featuring developmental regression and assess diagnostic yields of investigations. A retrospective chart review of children presenting with developmental regression to a tertiary pediatric genetic clinic between 2018 and 2021 was performed. Of 99 children, 30% (n = 30) had intellectual disability (ID), 21% (n = 21) were autistic, 39% (n = 39) were autistic with ID, and 9% (n = 9) did not have ID or autism. Thirty‐two percent (n = 32) of children received a new diagnosis, including eight molecular findings not previously reported to feature developmental regression. Of the children investigated, exome sequencing (ES) provided the highest diagnostic yield (51.1%, n = 24/47), highest (63.6%, n = 14/22) for children with ID, 50% for autistic children with ID (n = 6/12) and children without autism or ID (n = 3/6), and 14.3% (n = 1/7) for autistic children without ID. We highlight the conditions that feature developmental regression and report on novel phenotypic expansions. The high diagnostic yield of ES, regardless of autism or ID diagnosis, indicates the presence of developmental regression as an opportunity to identify the cause, including for genetic differences not previously reported to include regression. [ABSTRACT FROM AUTHOR]

Published
2024
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22. The Temporal Relationship between Blood–Brain Barrier Integrity and Microglial Response following Neonatal Hypoxia Ischemia

Author

Jithoo, Arya, primary, Penny, Tayla R., additional, Pham, Yen, additional, Sutherland, Amy E., additional, Smith, Madeleine J., additional, Petraki, Maria, additional, Fahey, Michael C., additional, Jenkin, Graham, additional, Malhotra, Atul, additional, Miller, Suzanne L., additional, and McDonald, Courtney A., additional

Published
2024
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23. Hypotonic cerebral palsy

Author

Cooper, Monica S., primary, Antolovich, Giuliana C., additional, Fahey, Michael C., additional, and Amor, David J., additional

Published
2024
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24. Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations

Author

Kooshavar, Daniz, primary, Amor, David J, additional, Boggs, Kirsten, additional, Baker, Naomi, additional, Barnett, Christopher, additional, de Silva, Michelle G, additional, Edwards, Samantha, additional, Fahey, Michael C, additional, Marum, Justine E, additional, Snell, Penny, additional, Bozaoglu, Kiymet, additional, Pope, Kate, additional, Mohammad, Shekeeb S, additional, Riney, Kate, additional, Sachdev, Rani, additional, Scheffer, Ingrid E, additional, Schenscher, Sarah, additional, Silberstein, John, additional, Smith, Nicholas, additional, Tom, Melanie, additional, Ware, Tyson L, additional, Lockhart, Paul J, additional, and Leventer, Richard J, additional

Published
2024
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26. Early, Accurate Diagnosis and Early Intervention in Cerebral Palsy: Advances in Diagnosis and Treatment

Author

Novak, Iona, Morgan, Cathy, Adde, Lars, Blackman, James, Boyd, Roslyn N, Brunstrom-Hernandez, Janice, Cioni, Giovanni, Damiano, Diane, Darrah, Johanna, Eliasson, Ann-Christin, de Vries, Linda S, Einspieler, Christa, Fahey, Michael, Fehlings, Darcy, Ferriero, Donna M, Fetters, Linda, Fiori, Simona, Forssberg, Hans, Gordon, Andrew M, Greaves, Susan, Guzzetta, Andrea, Hadders-Algra, Mijna, Harbourne, Regina, Kakooza-Mwesige, Angelina, Karlsson, Petra, Krumlinde-Sundholm, Lena, Latal, Beatrice, Loughran-Fowlds, Alison, Maitre, Nathalie, McIntyre, Sarah, Noritz, Garey, Pennington, Lindsay, Romeo, Domenico M, Shepherd, Roberta, Spittle, Alicia J, Thornton, Marelle, Valentine, Jane, Walker, Karen, White, Robert, and Badawi, Nadia

Subjects
Clinical Research, Perinatal Period - Conditions Originating in Perinatal Period, Biomedical Imaging, Cerebral Palsy, Brain Disorders, Prevention, Pediatric, Neurosciences, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Neurological, Child, Early Diagnosis, Early Intervention, Educational, Humans, Infant, Infant, Newborn, Paediatrics and Reproductive Medicine, Pediatrics
Abstract

ImportanceCerebral palsy describes the most common physical disability in childhood and occurs in 1 in 500 live births. Historically, the diagnosis has been made between age 12 and 24 months but now can be made before 6 months' corrected age.ObjectivesTo systematically review best available evidence for early, accurate diagnosis of cerebral palsy and to summarize best available evidence about cerebral palsy-specific early intervention that should follow early diagnosis to optimize neuroplasticity and function.Evidence reviewThis study systematically searched the literature about early diagnosis of cerebral palsy in MEDLINE (1956-2016), EMBASE (1980-2016), CINAHL (1983-2016), and the Cochrane Library (1988-2016) and by hand searching. Search terms included cerebral palsy, diagnosis, detection, prediction, identification, predictive validity, accuracy, sensitivity, and specificity. The study included systematic reviews with or without meta-analyses, criteria of diagnostic accuracy, and evidence-based clinical guidelines. Findings are reported according to the PRISMA statement, and recommendations are reported according to the Appraisal of Guidelines, Research and Evaluation (AGREE) II instrument.FindingsSix systematic reviews and 2 evidence-based clinical guidelines met inclusion criteria. All included articles had high methodological Quality Assessment of Diagnostic Accuracy Studies (QUADAS) ratings. In infants, clinical signs and symptoms of cerebral palsy emerge and evolve before age 2 years; therefore, a combination of standardized tools should be used to predict risk in conjunction with clinical history. Before 5 months' corrected age, the most predictive tools for detecting risk are term-age magnetic resonance imaging (86%-89% sensitivity), the Prechtl Qualitative Assessment of General Movements (98% sensitivity), and the Hammersmith Infant Neurological Examination (90% sensitivity). After 5 months' corrected age, the most predictive tools for detecting risk are magnetic resonance imaging (86%-89% sensitivity) (where safe and feasible), the Hammersmith Infant Neurological Examination (90% sensitivity), and the Developmental Assessment of Young Children (83% C index). Topography and severity of cerebral palsy are more difficult to ascertain in infancy, and magnetic resonance imaging and the Hammersmith Infant Neurological Examination may be helpful in assisting clinical decisions. In high-income countries, 2 in 3 individuals with cerebral palsy will walk, 3 in 4 will talk, and 1 in 2 will have normal intelligence.Conclusions and relevanceEarly diagnosis begins with a medical history and involves using neuroimaging, standardized neurological, and standardized motor assessments that indicate congruent abnormal findings indicative of cerebral palsy. Clinicians should understand the importance of prompt referral to diagnostic-specific early intervention to optimize infant motor and cognitive plasticity, prevent secondary complications, and enhance caregiver well-being.

Published
2017

27. The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective

Author

Eratne, Dhamidhu, Schneider, Amy, Lynch, Ella, Martyn, Melissa, Velakoulis, Dennis, Fahey, Michael, Kwan, Patrick, Leventer, Richard, Rafehi, Haloom, Chong, Belinda, Stark, Zornitza, Lunke, Sebastian, Phelan, Dean G., O'Keefe, Melanie, Siemering, Kirby, West, Kirsty, Sexton, Adrienne, Jarmolowicz, Anna, Taylor, Jessica A., Schultz, Joshua, Purvis, Rebecca, Uebergang, Eloise, Chalinor, Heather, Creighton, Belinda, Gelfand, Nikki, Saks, Tamar, Prawer, Yael, Smagarinsky, Yana, Pan, Tianxin, Goranitis, Ilias, Ademi, Zanfina, Gaff, Clara, Huq, Aamira, Walsh, Maie, James, Paul A., Krzesinski, Emma I., Wallis, Mathew, Stutterd, Chloe A., Bahlo, Melanie, Delatycki, Martin B., and Berkovic, Samuel F.

Published
2021
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28. Adherence to Active Surveillance Protocols for Low-risk Prostate Cancer: Results of the Movember Foundation’s Global Action Plan Prostate Cancer Active Surveillance Initiative

Author

Trock, Bruce, Ehdaie, Behfar, Carroll, Peter, Filson, Christopher, Kim, Jeri, Logothetis, Christopher, Morgan, Todd, Klotz, Laurence, Pickles, Tom, Hyndman, Eric, Moore, Caroline M., Gnanapragasam, Vincent, Van Hemelrijck, Mieke, Dasgupta, Prokar, Bangma, Chris, Roobol, Monique, Villers, Arnauld, Rannikko, Antti, Valdagni, Riccardo, Perry, Antoinette, Hugosson, Jonas, Rubio-Briones, Jose, Bjartell, Anders, Hefermehl, Lukas, Shiong, Lee Lui, Frydenberg, Mark, Kakehi, Yoshiyuki, Chung, Byung Ha, van der Kwast, Theo, Obbink, Henk, van der Linden, Wim, Hulsen, Tim, Jonge, Cees de, Kattan, Mike, Xinge, Ji, Muir, Kenneth, Lophatananon, Artitaya, Fahey, Michael, Steyerberg, Ewout, Nieboer, Daan, Zhang, Liying, Beckmann, Kerri, Denton, Brian, Hayen, Andrew, Boutros, Paul, Guo, Wei, Benfante, Nicole, Cowan, Janet, Patil, Dattatraya, Tolosa, Emily, Kim, Tae-Kyung, Mamedov, Alexandre, LaPointe, Vincent, Crump, Trafford, Kimberly-Duffell, Jenna, Santaolalla, Aida, Olivier, Jonathan, Rancati, Tiziana, Ahlgren, Helén, Mascarós, Juanma, Löfgren, Annica, Lehmann, Kurt, Lin, Catherine Han, Hirama, Hiromi, Lee, Kwang Suk, Jenster, Guido, Auvinen, Anssi, Haider, Masoom, van Bochove, Kees, Carter, Ballentine, Gledhill, Sam, Buzza, Mark, Bruinsma, Sophie, Helleman, Jozien, Kalapara, Arveen A., Verbeek, Jan F.M., Lee, Lui Shiong, Bangma, Chris H., Steyerberg, Ewout W., Harkin, Tim, and Roobol, Monique J.

Published
2020
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29. CP Global Clinical Trials Network, an International Trials Network for Cerebral Palsy: Global Prioritisation Process Using the Modified Delphi Method

Author

Novak, Iona, primary, Fahey, Michael, additional, Dan, Bernard, additional, Craig, Simon, additional, Griffin, Alexandra, additional, Gross, Paul, additional, Damgaard Justiniano, Mikkel, additional, Webb, Annabel, additional, Mc Namara, Maria, additional, Bo Nielsen, Jens, additional, Snelling, Thomas, additional, Ritterband-Rosenbaum, Anina, additional, Shrader, M. Wade, additional, and Global Clinical Trials Network, Cerebral Palsy, additional

Published
2024
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32. Clinical Trial Protocol for PRIMARY2: A Multicentre, Phase 3, Randomised Controlled Trial Investigating the Additive Diagnostic Value of [68Ga]Ga-PSMA-11 Positron Emission Tomography/Computed Tomography in Men with Negative or Equivocal Multiparametric Magnetic Resonance Imaging for the Diagnosis of Clinically Significant Prostate Cancer

Author

Buteau, James P., primary, Moon, Daniel, additional, Fahey, Michael T., additional, Roberts, Matthew J., additional, Thompson, James, additional, Murphy, Declan G., additional, Papa, Nathan, additional, Mitchell, Catherine, additional, De Abreu Lourenco, Richard, additional, Dhillon, Haryana M., additional, Kasivisvanathan, Veeru, additional, Francis, Roslyn J., additional, Stricker, Phillip, additional, Agrawal, Shihka, additional, O'Brien, Jonathan, additional, McVey, Aoife, additional, Sharma, Gaurav, additional, Levy, Sidney, additional, Ayati, Narjess, additional, Nguyen, Andrew, additional, Lee, Su-Faye, additional, Pattison, David A., additional, Sivaratnam, Dinesh, additional, Frydenberg, Mark, additional, Du, Yang, additional, Titus, Jehan, additional, Lee, Sze-Ting, additional, Ischia, Joseph, additional, Jack, Greg, additional, Hofman, Michael S., additional, and Emmett, Louise, additional

Published
2023
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35. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Author

Jin, Sheng Chih, Lewis, Sara A., Bakhtiari, Somayeh, Zeng, Xue, Sierant, Michael C., Shetty, Sheetal, Nordlie, Sandra M., Elie, Aureliane, Corbett, Mark A., Norton, Bethany Y., van Eyk, Clare L., Haider, Shozeb, Guida, Brandon S., Magee, Helen, Liu, James, Pastore, Stephen, Vincent, John B., Brunstrom-Hernandez, Janice, Papavasileiou, Antigone, Fahey, Michael C., Berry, Jesia G., Harper, Kelly, Zhou, Chongchen, Zhang, Junhui, Li, Boyang, Zhao, Hongyu, Heim, Jennifer, Webber, Dani L., Frank, Mahalia S. B., Xia, Lei, Xu, Yiran, Zhu, Dengna, Zhang, Bohao, Sheth, Amar H., Knight, James R., Castaldi, Christopher, Tikhonova, Irina R., López-Giráldez, Francesc, Keren, Boris, Whalen, Sandra, Buratti, Julien, Doummar, Diane, Cho, Megan, Retterer, Kyle, Millan, Francisca, Wang, Yangong, Waugh, Jeff L., Rodan, Lance, Cohen, Julie S., Fatemi, Ali, Lin, Angela E., Phillips, John P., Feyma, Timothy, MacLennan, Suzanna C., Vaughan, Spencer, Crompton, Kylie E., Reid, Susan M., Reddihough, Dinah S., Shang, Qing, Gao, Chao, Novak, Iona, Badawi, Nadia, Wilson, Yana A., McIntyre, Sarah J., Mane, Shrikant M., Wang, Xiaoyang, Amor, David J., Zarnescu, Daniela C., Lu, Qiongshi, Xing, Qinghe, Zhu, Changlian, Bilguvar, Kaya, Padilla-Lopez, Sergio, Lifton, Richard P., Gecz, Jozef, MacLennan, Alastair H., and Kruer, Michael C.

Published
2020
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36. Answering the call: co-designing a global trials network for cerebral palsy

Author

Adde, Lars, Arnaud, Catherine, Brandao, Marina, Brochard, Sylvain, Buizer, Annemieke, Craig, Simon, Dan, Bernard, Fahey, Michael, Fairhurst, Charlie, Fehlings, Darcy, Friel, Kathleen, Gross, Paul, Guzzetta, Andrea, Eliasson, Ann-Christin, Høi-Hansen, Christina, Jahnsen, Reidun Birgitta, Johansen, Mette, Mwesige, Angelina Kakooza, Ketelaar, Marjolijn, Lind, Karin, Longo, Egmar, Maimann, Bente, Namara, Maria Mc, Mesterman, Ronit, Mitchell, Jenna, Monbaliu, Elegast, Morgan, Catherine, Newman, Christopher J., Nielsen, Jens Bo, Novak, Iona, Ortibus, Els, Rackauskaite, Gija, Ritterband-Rosenbaum, Anina, Sigurdardottir, Solveig, Snelling, Tom, Shrader, M. Wade, Griffin, Alexandra, Justiniano, Mikkel Damgaard, Webb, Annabel, and Snelling, Thomas

Published
2024
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37. De novo variants in KCNA3 cause developmental and epileptic encephalopathy.

Author

Soldovieri, Maria Virginia, Ambrosino, Paolo, Mosca, Ilaria, Servettini, Ilenio, Pietrunti, Francesca, Belperio, Giorgio, Bast, Thomas, Benke, Paul J, Dietel, Tobias, Ellard, Sian, Fahey, Michael C, Hay, Eleanor, Starling, Susan, Jain, Vani, Kamsteeg, Erik‐Jan, Lichty, Angie W, Louie, Raymond J, Mehta, Sarju G, Morsy, Heba, and Moore, Sandra

Subjects
GAIN-of-function mutations, GENETIC variation, MISSENSE mutation, BRAIN diseases, AUTISM spectrum disorders, PEOPLE with epilepsy
Abstract

Objective: Variants in several potassium channel genes, including KCNA1 and KCNA2, cause Developmental and Epileptic Encephalopathies (DEEs). We investigated whether variants in KCNA3, another mammalian homologue of the Drosophila shaker family and encoding for Kv1.3 subunits, can cause DEE. Methods: Genetic analysis of study individuals was performed by routine exome or genome sequencing, usually of parent‐offspring trios. Phenotyping was performed via a standard clinical questionnaire. Currents from wild‐type and/or mutant Kv1.3 subunits were investigated by whole‐cell patch‐clamp upon their heterologous expression. Results: Fourteen individuals, each carrying a de novo heterozygous missense variant in KCNA3, were identified. Most (12/14; 86%) had DEE with marked speech delay with or without motor delay, intellectual disability, epilepsy, and autism spectrum disorder. Functional analysis of Kv1.3 channels carrying each variant revealed heterogeneous functional changes, ranging from "pure" loss‐of‐function (LoF) effects due to faster inactivation kinetics, depolarized voltage‐dependence of activation, slower activation kinetics, increased current inactivation, reduced or absent currents with or without dominant‐negative effects, to "mixed" loss‐ and gain‐of‐function (GoF) effects. Compared to controls, Kv1.3 currents in lymphoblasts from 1 of the proband displayed functional changes similar to those observed upon heterologous expression of channels carrying the same variant. The antidepressant drug fluoxetine inhibited with similar potency the currents from wild‐type and 1 of the Kv1.3 GoF variant. Interpretation: We describe a novel association of de novo missense variants in KCNA3 with a human DEE, and provide evidence that fluoxetine might represent a potential targeted treatment for individuals carrying variants with significant GoF effects. ANN NEUROL 2024;95:365–376 [ABSTRACT FROM AUTHOR]

Published
2024
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38. Clinical actionability of genetic findings in cerebral palsy

Author

Lewis, Sara A, primary, Chopra, Maya, additional, Cohen, Julie S., additional, Bain, Jennifer, additional, Aravamuthan, Bhooma, additional, Carmel, Jason B, additional, Fahey, Michael C, additional, Segel, Reeval, additional, Wintle, Richard F, additional, Zech, Michael, additional, May, Halie, additional, Haque, Nahla, additional, Fehlings, Darcy, additional, Srivastava, Siddharth, additional, and Kruer, Michael C, additional

Published
2023
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45. Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease

Author

Amarasekera, Sumudu S C, primary, Hock, Daniella H, additional, Lake, Nicole J, additional, Calvo, Sarah E, additional, Grønborg, Sabine W, additional, Krzesinski, Emma I, additional, Amor, David J, additional, Fahey, Michael C, additional, Simons, Cas, additional, Wibrand, Flemming, additional, Mootha, Vamsi K, additional, Lek, Monkol, additional, Lunke, Sebastian, additional, Stark, Zornitza, additional, Østergaard, Elsebet, additional, Christodoulou, John, additional, Thorburn, David R, additional, Stroud, David A, additional, and Compton, Alison G, additional

Published
2023
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46. 160. Maternal and Infant Outcomes Following Maternal Exposure to SARS-CoV-2 During Pregnancy in an Australian Cohort

Author

Hill, Rachel, primary, Gibbons, Andrew, additional, Han, Uni, additional, Suwakulsiri, Wittaya, additional, Taeska, Angela, additional, Hammet, Fleur, additional, Southey, Melissa, additional, Malhotra, Atul, additional, Fahey, Michael, additional, Palmer, Kirsten, additional, Hunt, Rod, additional, Lim, Izaak, additional, Newman-Morris, Vesna, additional, and Sundram, Suresh, additional

Published
2023
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48. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Author

Lunke, Sebastian, Eggers, Stefanie, Wilson, Meredith, Patel, Chirag, Barnett, Christopher P., Pinner, Jason, Sandaradura, Sarah A., Buckley, Michael F., Krzesinski, Emma I., de Silva, Michelle G., Brett, Gemma R., Boggs, Kirsten, Mowat, David, Kirk, Edwin P., Adès, Lesley C., Akesson, Lauren S., Amor, David J., Ayres, Samantha, Baxendale, Anne, Borrie, Sarah, Bray, Alessandra, Brown, Natasha J., Chan, Cheng Yee, Chong, Belinda, Cliffe, Corrina, Delatycki, Martin B., Edwards, Matthew, Elakis, George, Fahey, Michael C., Fennell, Andrew, Fowles, Lindsay, Gallacher, Lyndon, Higgins, Megan, Howell, Katherine B., Hunt, Lauren, Hunter, Matthew F., Jones, Kristi J., King, Sarah, Kumble, Smitha, Lang, Sarah, Le Moing, Maelle, Ma, Alan, Phelan, Dean, Quinn, Michael C. J., Richards, Anna, Richmond, Christopher M., Riseley, Jessica, Rodgers, Jonathan, Sachdev, Rani, Sadedin, Simon, Schlapbach, Luregn J., Smith, Janine, Springer, Amanda, Tan, Natalie B., Tan, Tiong Y., Temple, Suzanna L., Theda, Christiane, Vasudevan, Anand, White, Susan M., Yeung, Alison, Zhu, Ying, Martyn, Melissa, Best, Stephanie, Roscioli, Tony, Christodoulou, John, and Stark, Zornitza

Published
2020
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