Search Results - "Stivaros, Stavros"

Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes by Livingston, John H, Stivaros, Stavros, Warren, Dan, Crow, Yanick J

“…Intracranial calcification (ICC) is a common finding on neuroimaging in paediatric neurology practice. In approximately half of all cases the calcification…”
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Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing by Evans, D. Gareth, Hartley, Claire L., Smith, Philip T., King, Andrew T., Bowers, Naomi L., Tobi, Simon, Wallace, Andrew J., Perry, Mary, Anup, Raji, Lloyd, Simon K. W., Rutherford, Scott A., Hammerbeck-Ward, Charlotte, Pathmanaban, Omar N., Stapleton, Emma, Freeman, Simon R., Kellett, Mark, Halliday, Dorothy, Parry, Allyson, Gair, Juliette J., Axon, Patrick, Laitt, Roger, Thomas, Owen, Afridi, Shazia K., Obholzer, Rupert, Duff, Chris, Stivaros, Stavros M., Vassallo, Grace, Harkness, Elaine F., Smith, Miriam J.

“…Purpose To evaluate the incidence of mosaicism in de novo neurofibromatosis 2 (NF2). Methods Patients fulfilling NF2 criteria, but with no known affected…”
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Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures by Stödberg, Tommy, McTague, Amy, Ruiz, Arnaud J., Hirata, Hiromi, Zhen, Juan, Long, Philip, Farabella, Irene, Meyer, Esther, Kawahara, Atsuo, Vassallo, Grace, Stivaros, Stavros M., Bjursell, Magnus K., Stranneheim, Henrik, Tigerschiöld, Stephanie, Persson, Bengt, Bangash, Iftikhar, Das, Krishna, Hughes, Deborah, Lesko, Nicole, Lundeberg, Joakim, Scott, Rod C., Poduri, Annapurna, Scheffer, Ingrid E., Smith, Holly, Gissen, Paul, Schorge, Stephanie, Reith, Maarten E. A., Topf, Maya, Kullmann, Dimitri M., Harvey, Robert J., Wedell, Anna, Kurian, Manju A.

“…The potassium-chloride co-transporter KCC2, encoded by SLC12A5 , plays a fundamental role in fast synaptic inhibition by maintaining a hyperpolarizing gradient…”
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Enlarged Vestibular Aqueduct: Disease Characterization and Exploration of Potential Prognostic Factors for Cochlear Implantation by Saeed, Haroon S., Rajai, Azita, Nash, Robert, Saeed, Shakeel R., Stivaros, Stavros M., Black, Graeme, Bruce, Iain A.

“…There is an unmet need to match the anticipated natural history of hearing loss (HL) in enlarged vestibular aqueduct (EVA) with clinical management strategies…”
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Non-invasive brain stimulation modulates GABAergic activity in neurofibromatosis 1 by Garg, Shruti, Williams, Steve, Jung, JeYoung, Pobric, Gorana, Nandi, Tulika, Lim, Ben, Vassallo, Grace, Green, Jonathan, Evans, D. Gareth, Stagg, Charlotte J., Parkes, Laura M., Stivaros, Stavros

“…Neurofibromatosis 1 (NF1) is a single-gene disorder associated with cognitive phenotypes common to neurodevelopmental conditions such as autism. GABAergic…”
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Disease course of neurofibromatosis type 2: a 30-year follow-up study of 353 patients seen at a single institution by Forde, Claire, King, Andrew T, Rutherford, Scott A, Hammerbeck-Ward, Charlotte, Lloyd, Simon K, Freeman, Simon R, Pathmanaban, Omar N, Stapleton, Emma, Thomas, Owen M, Laitt, Roger D, Stivaros, Stavros, Kilday, John-Paul, Vassallo, Grace, McBain, Catherine, Kerrigan, Simon, Smith, Miriam J, McCabe, Martin G, Harkness, Elaine F, Evans, D Gareth

“…Abstract Background Limited data exist on the disease course of neurofibromatosis type 2 (NF2) to guide clinical trial design. Methods A prospective database…”
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Perceived fatigue in children and young adults with neurofibromatosis type 1 by Vassallo, Grace, Mughal, Zulf, Robinson, Louise, Weisberg, Daniel, Roberts, Stephen A, Hupton, Eileen, Eelloo, Judith, Burkitt Wright, Emma MM, Garg, Shruti, Lewis, Lauren, Evans, D Gareth, Stivaros, Stavros M

“…Aim This study describes the prevalence and severity of perceived fatigue in a young neurofibromatosis type 1 (NF1) population. Methods Ethical approval was…”
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The importance of genetic counseling and screening for people with pathogenic SMARCE1 variants: A family study by Shoakazemi, Alireza, Hewitt, Alan, Smith, Miriam J., Plessis, Daniel, Thomas, Owen, Stivaros, Stavros M., Deniz, Kenan, Hammerbeck‐ward, Charlotte, Rutherford, Scott A., King, Andrew Thomas, Evans, D. Gareth

“…Clear cell meningioma (CCM) is a rare variant of meningioma. In recent years, an association between cranial and spinal CCMs and germline loss of function…”
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Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA) by Stivaros, Stavros, Garg, Shruti, Tziraki, Maria, Cai, Ying, Thomas, Owen, Mellor, Joseph, Morris, Andrew A, Jim, Carly, Szumanska-Ryt, Karolina, Parkes, Laura M, Haroon, Hamied A, Montaldi, Daniela, Webb, Nicholas, Keane, John, Castellanos, Francisco X, Silva, Alcino J, Huson, Sue, Williams, Stephen, Gareth Evans, D, Emsley, Richard, Green, Jonathan

“…Neurofibromatosis 1 (NF1) is a monogenic model for syndromic autism. Statins rescue the social and cognitive phenotype in animal knockout models, but…”
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Enlarged Vestibular Aqueduct and Associated Inner Ear Malformations: Hearing Loss Prognostic Factors and Data Modeling from an International Cohort by Saeed, Haroon S, Fergie, Martin, Mey, Kristianna, West, Niels, Caye-Thomasen, Per, Nash, Robert, Saeed, Shakeel R, Stivaros, Starvos M, Black, Graeme, Bruce, Iain A

“…There is a need to operationalize existing clinical data to support precision medicine in progressive hearing loss (HL). By utilizing enlarged vestibular…”
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Pollicization of the index finger in Fanconi anaemia: appearances and functionality 40 years after the intervention by Stivaros, Stavros M., Punekar, Maqsood, Chandler, Kate, Rost, Isabell, Schindler, Detlev, Meyer, Stefan

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Multiple synchronous sites of origin of vestibular schwannomas in neurofibromatosis Type 2 by Stivaros, Stavros M, Stemmer-Rachamimov, Anat O, Alston, Robert, Plotkin, Scott R, Nadol, Joseph B, Quesnel, Alicia, O'Malley, Jennifer, Whitfield, Gillian A, McCabe, Martin G, Freeman, Simon R, Lloyd, Simon K, Wright, Neville B, Kilday, John-Paul, Kamaly-Asl, Ian D, Mills, Samantha J, Rutherford, Scott A, King, Andrew T, Evans, D Gareth

“…Neurofibromatosis Type 2 (NF2) is a dominantly inherited tumour syndrome with a phenotype which includes bilateral vestibular (eighth cranial nerve)…”
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Multifocality in neurofibromatosis type 2 by Evans, D Gareth R, Stivaros, Stavros M

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Central nervous system abnormalities in Fanconi anaemia: patterns and frequency on magnetic resonance imaging by Stivaros, Stavros M, Alston, Robert, Wright, Neville B, Chandler, Kate, Bonney, Denise, Wynn, Robert F, Will, Andrew M, Punekar, Maqsood, Loughran, Sean, Kilday, John-Paul, Schindler, Detlev, Patel, Leena, Meyer, Stefan

“…Fanconi anaemia (FA) is an inherited disease associated with congenital and developmental abnormalities resulting from the disruption of a multigenic DNA…”
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Endoscopic Third Ventriculostomy: Predicting Outcome with Phase-Contrast MR Imaging by STIVAROS, Stavros M, SINCLAIR, Deborah, BROMILEY, Paul A, KIM, Jieun, THORNE, John, JACKSON, Alan

“…To determine whether phase-contrast magnetic resonance (MR) imaging measurements of preoperative cerebral blood and cerebrospinal fluid (CSF) hydrodynamics can…”
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Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF by Popp, Isabell, Punekar, Maqsood, Telford, Nick, Stivaros, Stavros, Chandler, Kate, Minnis, Meenakshi, Castleton, Anna, Higham, Claire, Hopewell, Louise, Gareth Evans, D, Raams, Anja, Theil, Arjan F, Meyer, Stefan, Schindler, Detlev

“…Fanconi anemia (FA) is an inherited genomic instability disorder with congenital and developmental abnormalities, bone marrow failure and predisposition to…”
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Quantification of structural changes in the corpus callosumin children with profound hypoxic–ischaemic brain injury by Stivaros, Stavros M., Radon, Mark R., Mileva, Reneta, Connolly, Daniel J. A., Cowell, Patricia E., Hoggard, Nigel, Wright, Neville B., Tang, Vivian, Gledson, Ann, Batty, Ruth, Keane, John A., Griffiths, Paul D.

“…Background Birth-related acute profound hypoxic–ischaemic brain injury has specific patterns of damage including the paracentral lobules. Objective To test the…”
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Does black blood MRA have a role in the assessment of intracerebral aneurysms? by Stivaros, Stavros M., Harris, Jonathan N., Adams, William, Jackson, Alan

“…The aim of this study was to assess whether the addition of a black blood (BB) sequence to standard three-dimensional time-of-flight (3D-TOF) imaging yields…”
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Imaging of Brain Tumors: Perfusion/Permeability by Thompson, Gerard, MB ChB, MRCS, Mills, Samantha Jane, MB ChB, MRCP, FRCR, Stivaros, Stavros Michael, MB ChB, FRCR, Jackson, Alan, PhD, FRCP, FRCR, FBIR

“…The use of biomarkers of microvascular structure and function from perfusion and permeability imaging is now well established in neuro-oncological research…”
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Glandular function in Sjögren syndrome: assessment with dynamic contrast-enhanced MR imaging and tracer kinetic modeling--initial experience by Roberts, Caleb, Parker, Geoff J M, Rose, Chris J, Watson, Yvonne, O'Connor, James P, Stivaros, Stavros M, Jackson, Alan, Rushton, Vivian E

“…To prospectively use dynamic contrast material-enhanced magnetic resonance (MR) imaging and a tracer kinetic model to compare parotid gland microvascular…”
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