Search Results - "Vassallo, Grace"

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies by Taylor, Robert W, Pyle, Angela, Griffin, Helen, Blakely, Emma L, Duff, Jennifer, He, Langping, Smertenko, Tania, Alston, Charlotte L, Neeve, Vivienne C, Best, Andrew, Yarham, John W, Kirschner, Janbernd, Schara, Ulrike, Talim, Beril, Topaloglu, Haluk, Baric, Ivo, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Kleinle, Stephanie, Morris, Andrew A. M, Vassallo, Grace, Gorman, Grainne S, Ramesh, Venkateswaran, Turnbull, Douglass M, Santibanez-Koref, Mauro, McFarland, Robert, Horvath, Rita, Chinnery, Patrick F

“…IMPORTANCE: Mitochondrial disorders have emerged as a common cause of inherited disease, but their diagnosis remains challenging. Multiple respiratory chain…”
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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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Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency by Banka, Siddharth, Blom, Henk J., Walter, John, Aziz, Majid, Urquhart, Jill, Clouthier, Christopher M., Rice, Gillian I., de Brouwer, Arjan P.M., Hilton, Emma, Vassallo, Grace, Will, Andrew, Smith, Desirée E.C., Smulders, Yvo M., Wevers, Ron A., Steinfeld, Robert, Heales, Simon, Crow, Yanick J., Pelletier, Joelle N., Jones, Simon, Newman, William G.

“…Dihydrofolate reductase (DHFR) is a critical enzyme in folate metabolism and an important target of antineoplastic, antimicrobial, and antiinflammatory drugs…”
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Craniofacial linear scleroderma associated with retinal telangiectasia and exudative retinal detachment by Lenassi, Eva, MD, PhD, Vassallo, Grace, MD, Kehdi, Elias, MD, Chieng, Alice S., MD, MSc, Ashworth, Jane L., MD, PhD

“…Linear scleroderma is a characteristic form of scleroderma that typically affects children. Ocular manifestations may be present, especially when the…”
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The skeletal muscle phenotype of children with Neurofibromatosis Type 1 - A clinical perspective by Chinoy, Amish, Vassallo, Grace R, Burkitt Wright, Emma, Eelloo, Judith, West, Siobhan, Hupton, Eileen, Galloway, Paula, Pilkington, Amy, Padidela, Raja, Mughal, M Zulf

“…Neurofibromatosis type 1 (NF1) can affect multiple systems in the body. An under recognised phenotype is one of muscle weakness. Clinical studies using…”
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T2-highlighted U-fibres and rapid parenchymal volume loss in AESD: An under-recognised subtype of paediatric acute encephalopathy syndromes by Ramji, Saipriya, McCullagh, Gary, Ram, Dipak, Vassallo, Grace, Pavaine, Julija

“…Acute Encephalopathy with Reduced Subcortical Diffusion or AED is a unique subtype of acute paediatric encephalopathy which presents with altered mental…”
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Predictors of cognitive, behavioural and academic difficulties in NF1 by Geoffray, Marie-Maude, Robinson, Louise, Ramamurthy, Kavitha, Manderson, Lauren, O'Flaherty, Julieta, Lehtonen, Annukka, Tordjman, Sylvie, Green, Jonathan, Vassallo, Grace, Garg, Shruti

“…The impact of the Neurofibromatosis type 1 (NF1) on cognition have been subject to much clinical investigation, but environmental modifiers of disease…”
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Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1 by Pobric, Gorana, Taylor, Jason R., Ramalingam, Hemavathy M., Pye, Emily, Robinson, Louise, Vassallo, Grace, Jung, JeYoung, Bhandary, Misty, Szumanska-Ryt, Karolina, Theodosiou, Louise, Evans, D. Gareth, Eelloo, Judith, Burkitt-Wright, Emma, Hulleman, Johan, Green, Jonathan, Garg, Shruti

“…Neurofibromatosis 1 (NF1) is a single gene disorder associated with working Memory (WM) impairments. The aim of this study was to investigate P300…”
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NF2 -related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study by Forde, Claire, Smith, Miriam J, Burghel, George J, Bowers, Naomi, Roberts, Nicola, Lavin, Tim, Halliday, Jane, King, Andrew Thomas, Rutherford, Scott, Pathmanaban, Omar N, Lloyd, Simon, Freeman, Simon, Halliday, Dorothy, Parry, Allyson, Axon, Patrick, Buttimore, Juliette, Afridi, Shazia, Obholzer, Rupert, Laitt, Roger, Thomas, Owen, Stivaros, Stavros Michael, Vassallo, Grace, Evans, D Gareth

“…New diagnostic criteria for NF2-related schwannomatosis (NF2) were published in 2022. An updated UK prevalence was generated in accordance with these, with an…”
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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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Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy by Sitaram, Spatikha, Banka, Hetalika C., Vassallo, Grace, Pavaine, Julija, Fairclough, Adele, Wright, Ronnie, Fairbanks, Lynette, Bierau, Jörgen, Bowden, Lydia, Schwahn, Bernd, Horman, Alistair, Banka, Siddharth

“…Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe…”
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Clinical features, course, and outcomes of a UK cohort of pediatric moyamoya by Tho-Calvi, Sara C, Thompson, Dominic, Saunders, Dawn, Agrawal, Shakti, Basu, Anna, Chitre, Manali, Chow, Gabriel, Gibbon, Frances, Hart, Anthony, Tallur, Krishnaraya Kamath, Kirkham, Fenella, Kneen, Rachel, McCullagh, Helen, Mewasingh, Leena, Vassallo, Grace, Vijayakumar, Kayal, Wraige, Elizabeth, Yeo, Tong Hong, Ganesan, Vijeya

“…OBJECTIVETo describe characteristics and course of a large UK cohort of children with moyamoya from multiple centers and examine prognostic predictors…”
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Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures by Tang, Shan, Addis, Laura, Smith, Anna, Topp, Simon D., Pendziwiat, Manuela, Mei, Davide, Parker, Alasdair, Agrawal, Shakti, Hughes, Elaine, Lascelles, Karine, Williams, Ruth E., Fallon, Penny, Robinson, Robert, Cross, Helen J., Hedderly, Tammy, Eltze, Christin, Kerr, Tim, Desurkar, Archana, Hussain, Nahin, Kinali, Maria, Bagnasco, Irene, Vassallo, Grace, Whitehouse, William, Goyal, Sushma, Absoud, Michael, Møller, Rikke S., Helbig, Ingo, Weber, Yvonne G., Marini, Carla, Guerrini, Renzo, Simpson, Michael A., Pal, Deb K., Craiu, Dana, Davila, Carol, Obregia, Alexandru, De Jonghe, Peter, Lehesjoki, Anna‐Elina, Muhle, Hiltrud, Neubauer, Bernd, Selmer, Kaja, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Talvik, Tiina, von Spiczak, Sarah, Weckhuysen, Sarah, Caglayan, Hande, Hoffman‐Zacharska, Dorota

“…Objective We aimed to describe the extent of neurodevelopmental impairments and identify the genetic etiologies in a large cohort of patients with epilepsy…”
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Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing by Evans, D. Gareth, King, Andrew T., Bowers, Naomi L., Tobi, Simon, Wallace, Andrew J., Perry, Mary, Anup, Raji, Lloyd, Simon K.L., 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, Ferner, Rosalie E., Harkness, Elaine F., Smith, Miriam J.

“…We have evaluated deficiencies in existing diagnostic criteria for neurofibromatosis 2 (NF2). Two large databases of individuals fulfilling NF2 criteria…”
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Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018–2019 by Collins‐Sawaragi, Yoshua Colyn, Ferner, Rosalie, Vassallo, Grace, De Agrò, Germana, Eccles, Simon, Cadwgan, Jill, Hargrave, Darren, Hupton, Eileen, Eelloo, Judith, Lunt, Lauren, Tang, Vivian, Burkitt Wright, Emma, Lascelles, Karine

“…We report on the location, symptoms, and management of plexiform neurofibroma (PN) in children with Neurofibromatosis Type 1 (NF1) attending the 2 National…”
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Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients by Hexter, Adam, Jones, Adrian, Joe, Harry, Heap, Laura, Smith, Miriam J, Wallace, Andrew J, Halliday, Dorothy, Parry, Allyson, Taylor, Amy, Raymond, Lucy, Shaw, Adam, Afridi, Shazia, Obholzer, Rupert, Axon, Patrick, King, Andrew T, Friedman, Jan M, Evans, D Gareth R

“…Neurofibromatosis 2 (NF2) is an autosomal-dominant tumour predisposition syndrome characterised by bilateral vestibular schwannomas, considerable morbidity and…”
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Cerebral palsy: An overview and the role of a paediatric neurologist in the evaluation of children with complex needs for cochlear implant by Aziz, Majid, Vassallo, Grace

“…Cerebral palsy (CP) is primarily a non-progressive disorder of movement and posture affecting the developing brain, but many children with CP have other…”
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Trends in phenotype in the English paediatric neurofibromatosis type 2 cohort stratified by genetic severity by Halliday, Dorothy, Emmanouil, Beatrice, Vassallo, Grace, Lascelles, Karine, Nicholson, James, Chandratre, Saleel, Anand, Geetha, Wasik, Martin, Pretorius, Pieter, Evans, D. Gareth, Parry, Allyson, Axon, Patrick, Gair, Juliette, Smyth, Carolyn, Afridi, Shazia K, Obholzer, Rupert, Everett, Vanessa, Jarvis, Nicola, Henshaw, Kirsty, Hanemann, C Oliver, Howard, Wendy, May, Anne, Redman, Carolyn, Rattihalli, Rohini, Tomkins, Helen

“…Childhood onset neurofibromatosis type 2 can be severe and genotype dependent. We present a retrospective phenotypic analysis of all ascertained children in…”
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