Search Results - "HENSIEK, Anke"

Correlation Between the SARA and A-T NEST Clinical Severity Scores in Adults with Ataxia-Telangiectasia by Major, Toby, Tiet, May Yung, Horvath, Rita, Hensiek, Anke E.

“…Ataxia-Telangiectasia (A-T) is an autosomal recessive neurodegenerative disease associated with cerebellar ataxia and extrapyramidal features. A-T has a…”
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Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia by Schon, Katherine, van Os, Nienke J.H., Oscroft, Nicholas, Baxendale, Helen, Scoffings, Daniel, Ray, Julian, Suri, Mohnish, Whitehouse, William P., Mehta, Puja R., Everett, Natasha, Bottolo, Leonardo, Warrenburg, Bart P., Byrd, Philip J., Weemaes, Corry, Willemsen, Michel A., Tischkowitz, Marc, Taylor, A. Malcolm, Hensiek, Anke E.

“…Objective Variant ataxia‐telangiectasia is caused by mutations that allow some retained ataxia telangiectasia‐mutated (ATM) kinase activity. Here, we describe…”
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Ophthalmoplegia and slurred speech in an intravenous drug user by Vera, Jaime, Hensiek, Anke, Woodrow, Charles, Crawley, Francesca, Krishna, Sanjeev

“…A 35-year-old heroin user presented with acute, progressive diplopia and slurred speech. Krishna and colleagues discuss the diagnosis and management of this…”
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Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing by Hensiek, Anke, Kirker, Stephen, Reid, Evan

“…The hereditary spastic paraplegias (HSPs) are a group of genetic conditions in which spastic paralysis of the legs is the principal clinical feature. This is…”
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Novel observation for adult ataxia-telangiectasia: evaluating the lack of hypointensity of the dentate nuclei by Tiet, May Yung, Scoffings, Daniel, Blanchard, Caroline, Dineen, Robert A, Horvath, Rita, Hensiek, Anke

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038 Cerebellar cognitive affective syndrome in ataxia-telangiectasia patients by Tiet, May Yung, Rittman, Timothy, Horvath, Rita, Hensiek, Anke

“…BackgroundCognitive function in Ataxia telangiectasia (AT) has been reported in few studies. The cer- ebellum is increasingly recognised as a pivotal structure…”
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White matter hyperintensities and brain microbleeds in ataxia-telangiectasia: the Cambridge cohort by Tiet, May Yung, Nannoni, Stefania, Horvath, Rita, Markus, Hugh S, Hensiek, Anke

“…BackgroundIsolated reports indicate the presence of MRI T2 white matter hyperintensities (WMH) and brain microbleeds (BMB) in ataxia telangiectasia (AT), but…”
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Clinician and patient experience of neurology telephone consultations during the COVID-19 pandemic by Nakornchai, Tagore, Conci, Elena, Hensiek, Anke, Brown, J William L

“…BackgroundTelephone consultations are already employed in specific neurological settings. At Cambridge University Hospitals, the COVID-19 pandemic initially…”
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Case report and discussion of pregnancy in a woman with Labrune syndrome and neurofibromatosis type 1 by Wilson, Alison, Hensiek, Anke, Jones, Megan

“…Labrune syndrome is a rare neurological autosomal recessive condition characterised by leukoencephalopathy, cerebral calcification and parenchymal cysts…”
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103 A novel MRI biomarker for ataxia-telangiectasia: evaluating the lack of hypoin- tensity of the dentate nuclei by Tiet, May Yung, Scoffings, Daniel, Blanchard, Caroline, Dineen, Robert, Rita, Horvath, Hensiek, Anke

“…BackgroundAtaxia-Telangiectasia (AT) is a rare autosomal recessive multisystemic disorder. Classic AT has a characteristic neurological phenotype but variant…”
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Searching for needles in haystacks—the genetics of multiple sclerosis and other common neurological diseases by Hensiek, Anke E., Sawcer, S.J., Compston, D.A.S.

“…Recent years have witnessed considerable advances in our understanding of monogenic neurodegenerative diseases, such as hereditary motor sensory neuropathy and…”
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Status epilepticus by Hensiek, Anke E, Absalom, Anthony R

“…Status epilepticus is defined as epileptic activity that continues for more than 30 minutes as a single seizure or as recurrent seizures without inter-ictal…”
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Clinician and patient experience of neurology telephone consultations during the COVID-19 pandemic by Nakornchai, Tagore, Conci, Elena, Hensiek, Anke, Brown, J William L

“…Telephone consultations are already employed in specific neurological settings. At Cambridge University Hospitals, the COVID-19 pandemic initially prompted…”
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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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Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes by West, Hannah, Carss, Keren, Shakeel, Hassan, Adlard, Julian, Cole, Trevor, Kwong, Ava, Paterson, Joan, Searle, Claire, Skytte, Anne-Bine, Aitman, Timothy, Ambegaonkar, Gautum, Antrobus, Richard, Arno, Gavin, Astle, William, Attwood, Antony, Austin, Steve, Bakchoul, Tamam, Bennett, David, Bitner-Glindzicz, Maria, Bleda, Marta, Bolton-Maggs, Paula, Booth, Claire, Clements-Brod, Naomi, Clowes, Virginia, Collins, Peter, Cookson, Victoria, Creaser-Myers, Amanda, DaCosta, Rosa, Davies, Sophie, Deegan, Patrick, Dewhurst, Eleanor, Doffinger, Rainer, Drewe, Elizabeth, Favier, Remi, Firth, Helen, Furie, Bruce, Furnell, Abigail, Gardham, Alice, Gissen, Paul, Gomez, Keith, Graf, Stefan, Gräf, Stefan, Greenhalgh, Alan, Hackett, Scott, Haimel, Matthias, Herwadkar, Archana, Holder, Muriel, Huissoon, Aarnoud, James, Roger, Kennedy, Fiona, Kingston, Nathalie, Kuijpers, Taco, Lawrie, Allan, Lentaigne, Claire, Machado, Rajiv, Maher, Eamonn, Mangles, Sarah, Manson, Ania, Matser, Vera, McDermott, Elizabeth, Megy, Karyn, Millar, Carolyn M., Morrell, Nicholas, Ouwehand, Willem H., Papadia, Sofia, Payne, Jeanette, Peacock, Andrew, Pollock, Val, Quinti, Isabella, Rayner-Matthews, Paula, Rehnstrom, Karola, Rhodes, Christopher J., Richardson, Sylvia, Richter, Alex, Rondina, Matthew, Rosser, Elisabeth, Rue-Albrecht, Kevin, Sargur, Ravishankar, Savic, Sinisa, Schotte, Gwen, Schulze, Harald, Seneviratne, Suranjith, Shamardina, Olga, Simeoni, Ilenia, Staines, Simon, Stark, Hannah, Stock, Sophie, Thaventhiran, James, Thompson, Dorothy, Toh, Cheng-Hock, Turek, Wojciech, Wassmer, Evangeline, Watt, Christopher, Wharton, John, Williamson, Catherine, Woods, Geoff, Wort, John, Yeatman, Nigel, Tischkowitz, Marc D., Maher, Eamonn R.

“…Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result from various causes, including inherited predisposition…”
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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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The response of spinal cord ependymomas to bevacizumab in patients with neurofibromatosis Type 2 by Morris, Katrina A., Afridi, Shazia K., Evans, D. Gareth, Hensiek, Anke E., McCabe, Martin G., Kellett, Mark, Halliday, Dorothy, Pretorius, Pieter M., Parry, Allyson

“…OBJECTIVE People with neurofibromatosis Type 2 (NF2) have a genetic predisposition to nervous system tumors. NF2-associated schwannomas stabilize or decrease…”
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White Matter Hyperintensities and Cerebral Microbleeds in Ataxia-Telangiectasia by Tiet, May Yung, Nannoni, Stefania, Scoffings, Daniel, Schon, Katherine, Horvath, Rita, Markus, Hugh Stephen, Hensiek, Anke Erma

“…To systematically assess the occurrence of cerebral microbleeds (CMBs) and white matter hyperintensities (WMHs) in the largest published cohort of adults with…”
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Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia by van Os, Nienke J.H, Hensiek, Anke, van Gaalen, Judith, Taylor, Alexander M.R, van Deuren, Marcel, Weemaes, Corry M.R, Willemsen, Michèl A.A.P, van de Warrenburg, Bart P.C

“…OBJECTIVETo describe and classify the neurologic trajectories in patients with mild neurologic forms of ataxia telangiectasia (A-T) from the Dutch A-T cohort,…”
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Radiation treatment of benign tumors in NF2-related-schwannomatosis: A national study of 266 irradiated patients showing a significant increase in malignancy/malignant progression by Evans, D Gareth, Halliday, Dorothy, Obholzer, Rupert, Afridi, Shazia, Forde, Claire, Rutherford, Scott A, Hammerbeck-Ward, Charlotte, Lloyd, Simon K, Freeman, Simon M, Pathmanaban, Omar N, Thomas, Owen M, Laitt, Roger D, Stivaros, Stavros, Kilday, John-Paul, Vassallo, Grace, McBain, Catherine, Lavin, Timothy, Paterson, Chay, Whitfield, Gillian, McCabe, Martin G, Axon, Patrick R, Halliday, Jane, Mackeith, Samuel, Parry, Allyson, Harkness, Elaine F, Buttimore, Juliette, King, Andrew T

“…Abstract Background Radiation treatment of benign tumors in tumor predisposition syndromes is controversial, but short-term studies from treatment centers…”
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