Correlation Between the SARA and A-T NEST Clinical Severity Scores in Adults with Ataxia-Telangiectasia
Major, Toby, Tiet, May Yung, Horvath, Rita, Hensiek, Anke E.
Published in Cerebellum (London, England) (01.04.2024)
Published in Cerebellum (London, England) (01.04.2024)
Get full text
Journal Article
Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia
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.
Published in Annals of neurology (01.02.2019)
Published in Annals of neurology (01.02.2019)
Get full text
Journal Article
Ophthalmoplegia and slurred speech in an intravenous drug user
Vera, Jaime, Hensiek, Anke, Woodrow, Charles, Crawley, Francesca, Krishna, Sanjeev
Published in PLoS medicine (01.12.2006)
Published in PLoS medicine (01.12.2006)
Get full text
Journal Article
038 Cerebellar cognitive affective syndrome in ataxia-telangiectasia patients
Tiet, May Yung, Rittman, Timothy, Horvath, Rita, Hensiek, Anke
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2022)
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2022)
Get full text
Journal Article
Clinician and patient experience of neurology telephone consultations during the COVID-19 pandemic
Nakornchai, Tagore, Conci, Elena, Hensiek, Anke, Brown, J William L
Published in Postgraduate medical journal (01.07.2022)
Published in Postgraduate medical journal (01.07.2022)
Get full text
Journal Article
103 A novel MRI biomarker for ataxia-telangiectasia: evaluating the lack of hypoin- tensity of the dentate nuclei
Tiet, May Yung, Scoffings, Daniel, Blanchard, Caroline, Dineen, Robert, Rita, Horvath, Hensiek, Anke
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2022)
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2022)
Get full text
Journal Article
Searching for needles in haystacks—the genetics of multiple sclerosis and other common neurological diseases
Get full text
Journal Article
Conference Proceeding
Status epilepticus
Hensiek, Anke E, Absalom, Anthony R
Published in Anaesthesia and intensive care medicine (01.04.2006)
Published in Anaesthesia and intensive care medicine (01.04.2006)
Get full text
Journal Article
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
Hadinnapola, Charaka, Bleda, Marta, Haimel, Matthias, Screaton, Nicholas, Swift, Andrew, Dorfmüller, Peter, Preston, Stephen D, Southwood, Mark, Hernandez-Sanchez, Jules, Martin, Jennifer, Treacy, Carmen, Yates, Katherine, Bogaard, Harm, Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A, Gibbs, Simon, Girerd, Barbara, Holden, Simon, Humbert, Marc, Kiely, David G, Lawrie, Allan, Machado, Rajiv, MacKenzie Ross, Robert, Moledina, Shahin, Montani, David, Newnham, Michael, Peacock, Andrew, Pepke-Zaba, Joanna, Rayner-Matthews, Paula, Shamardina, Olga, Soubrier, Florent, Southgate, Laura, Suntharalingam, Jay, Toshner, Mark, Trembath, Richard, Vonk Noordegraaf, Anton, Wilkins, Martin R, Wort, Stephen J, Wharton, John, Gräf, Stefan, Morrell, Nicholas W
Published in Circulation (New York, N.Y.) (21.11.2017)
Published in Circulation (New York, N.Y.) (21.11.2017)
Get full text
Journal Article
Clinician and patient experience of neurology telephone consultations during the COVID-19 pandemic
Nakornchai, Tagore, Conci, Elena, Hensiek, Anke, Brown, J William L
Published in Postgraduate medical journal (01.07.2022)
Get full text
Published in Postgraduate medical journal (01.07.2022)
Journal Article
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing
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
Published in Genetics in medicine (01.01.2020)
Published in Genetics in medicine (01.01.2020)
Get full text
Journal Article
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
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.
Published in American journal of human genetics (05.07.2018)
Published in American journal of human genetics (05.07.2018)
Get full text
Journal Article
Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing
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.
Published in Genetics in medicine (01.07.2019)
Published in Genetics in medicine (01.07.2019)
Get full text
Journal Article
The response of spinal cord ependymomas to bevacizumab in patients with neurofibromatosis Type 2
Published in Journal of neurosurgery. Spine
(01.04.2017)
Get more information
Journal Article
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy
Khan, Kamron N, El-Asrag, Mohammed E, Ku, Cristy A, Holder, Graham E, McKibbin, Martin, Arno, Gavin, Poulter, James A, Carss, Keren, Bommireddy, Tejaswi, Bagheri, Saghar, Bakall, Benjamin, Scholl, Hendrik P, Raymond, F Lucy, Toomes, Carmel, Inglehearn, Chris F, Pennesi, Mark E, Moore, Anthony T, Michaelides, Michel, Webster, Andrew R, Ali, Manir
Published in Investigative ophthalmology & visual science (01.06.2017)
Published in Investigative ophthalmology & visual science (01.06.2017)
Get full text
Journal Article