Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications

Authors: Macken, William L., Falabella, Micol, Pizzamiglio, Chiara, Woodward, Cathy E., Scotchman, Elizabeth, Chitty, Lyn S., Polke, James M., Bugiardini, Enrico, Hanna, Michael G., Vandrovcova, Jana, Chandler, Natalie, Labrum, Robyn, Pitceathly, Robert D.S.

Source: Expert review of molecular diagnostics. 23(9):797-814

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100192953498.0x000001&indx=1&recIds=ETOCvdc_100192953498.0x000001

Elevated 4R‐tau in astrocytes from asymptomatic carriers of the MAPT 10+16 intronic mutation

Authors: Setó‐Salvia, Núria, Esteras, Noemi, Silva, Rohan, Pablo‐Fernandez, Eduardo, Arber, Charles, Toomey, Christina E., Polke, James M., Morris, Huw R., Rohrer, Jonathan D., Abramov, Andrey Y., Patani, Rickie, Wray, Selina, Warner, Thomas T.

Source: Journal of cellular and molecular medicine. 26(4):1327-1331

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100140522435.0x000001&indx=1&recIds=ETOCvdc_100140522435.0x000001

Clinical outcomes of COVID-19 in long-term care facilities for people with epilepsy

Authors: Aitken, Jim, Allen, Zoe, Ambler, Rachel, Ambrose, Karen, Ashton, Emma, Avola, Alida, Balakrishnan, Samutheswari, Barns-Jenkins, Caitlin, Barr, Genevieve, Barrell, Sam, Basu, Souradeep, Beale, Rupert, Beesley, Clare, Bhardwaj, Nisha, Bibi, Shahnaz, Bineva-Todd, Ganka, Biswas, Dhruva, Blackman, Michael J., Bonnet, Dominique, Bowker, Faye, Broncel, Malgorzata, Brooks, Claire, Buck, Michael D., Buckton, Andrew, Budd, Timothy, Burrell, Alana, Busby, Louise, Bussi, Claudio, Butterworth, Simon, Byott, Matthew, Byrne, Fiona, Byrne, Richard, Caidan, Simon, Campbell, Joanna, Canton, Johnathan, Cardoso, Ana, Carter, Nick, Carvalho, Luiz, Carzaniga, Raffaella, Chandler, Natalie, Chen, Qu, Cherepanov, Peter, Churchward, Laura, Clark, Graham, Clayton, Bobbi, Cobolli Gigli, Clementina, Collins, Zena, Cottrell, Sally, Crawford, Margaret, Cubitt, Laura, Cullup, Tom, Davies, Heledd, Davis, Patrick, Davison, Dara, Dearing, Vicky, Debaisieux, Solene, Diaz-Romero, Monica, Dibbs, Alison, Diring, Jessica, Driscoll, Paul C., D'Avola, Annalisa, Earl, Christopher, Edwards, Amelia, Ekin, Chris, Evangelopoulos, Dimitrios, Faraway, Rupert, Fearns, Antony, Ferron, Aaron, Fidanis, Efthymios, Fitz, Dan, Fleming, James, Frampton, Daniel, Frederico, Bruno, Gaiba, Alessandra, Gait, Anthony, Gamblin, Steve, Gärtner, Kathleen, Gaul, Liam, Golding, Helen M., Goldman, Jacki, Goldstone, Robert, Gomez Dominguez, Belen, Gong, Hui, Grant, Paul R., Greco, Maria, Grobler, Mariana, Guedan, Anabel, Gutierrez, Maximiliano G., Hackett, Fiona, Hall, Ross, Halldorsson, Steinar, Harris, Suzanne, Hashim, Sugera, Hatipoglu, Emine, Healy, Lyn, Heaney, Judith, Herbst, Susanne, Hewitt, Graeme, Higgins, Theresa, Hindmarsh, Steve, Hirani, Rajnika, Hope, Joshua, Horton, Elizabeth, Hoskins, Beth, Howell, Michael, Howitt, Louise, Hoyle, Jacqueline, Htun, Mint R., Hubank, Michael, Huerga Encabo, Hector, Hughes, Deborah, Hughes, Jane, Huseynova, Almaz, Hwang, Ming-Shih, Instrell, Rachael, Jackson, Deborah, Jamal-Hanjani, Mariam, Jenkins, Lucy, Jiang, Ming, Johnson, Mark, Jones, Leigh, Kanu, Nnennaya, Kassiotis, George, Kelly, Gavin, Kiely, Louise, Teixeira, Anastacio King Spert, Kirk, Stuart, Kjaer, Svend, Knuepfer, Ellen, Komarov, Nikita, Kotzampaltiris, Paul, Kousis, Konstantinos, Krylova, Tammy, Kucharska, Ania, Labrum, Robyn, Lambe, Catherine, Lappin, Michelle, Lee, Stacey-Ann, Levett, Andrew, Levett, Lisa, Levi, Marcel, Liu, Hon Wing, Loughlin, Sam, Lu, Wei-Ting, MacRae, James I., Madoo, Akshay, Marczak, Julie A., Martensson, Mimmi, Martinez, Thomas, Marzook, Bishara, Matthews, John, Matz, Joachim M., McCall, Samuel, McCoy, Laura E., McKay, Fiona, McNamara, Edel C., Minutti, Carlos M., Mistry, Gita, Molina-Arcas, Miriam, Montaner, Beatriz, Montgomery, Kylie, Moore, Catherine, Moore, David, Moraiti, Anastasia, Moreira-Teixeira, Lucia, Mukherjee, Joyita, Naceur-Lombardelli, Cristina, Nelson, Aileen, Nicod, Jerome, Nightingale, Luke, Nofal, Stephanie, Nurse, Paul, Nutan, Savita, Oedekoven, Caroline, O'Garra, Anne, O'Leary, Jean D., Olsen, Jessica, O'Neill, Olga, O'Reilly, Nicola, Suarez, Paula Ordonez, Osborne, Neil, Pabari, Amar, Pajak, Aleksandra, Papayannopoulos, Venizelos, Paraskevopoulou, Stavroula M, Patel, Namita, Patel, Yogen, Paun, Oana, Peat, Nigel, Peces-Barba Castano, Laura, Caballero, Ana Perez, Perez-Lloret, Jimena, Perrault, Magali S., Perrin, Abigail, Poh, Roy, Poirier, Enzo Z., Polke, James M., Pollitt, Marc, Prieto-Godino, Lucia, Proust, Alize, Puvirajasinghe, Clinda, Queval, Christophe, Ramachandran, Vijaya, Ramaprasad, Abhinay, Ratcliffe, Peter, Reed, Laura, Reis e Sousa, Caetano, Richardson, Kayleigh, Ridewood, Sophie, Roberts, Fiona, Roberts, Rowenna, Rodgers, Angela, Romero Clavijo, Pablo, Rosa, Annachiara, Rossi, Alice, Roustan, Chloe, Rowan, Andrew, Sahai, Erik, Sait, Aaron, Sala, Katarzyna, Sanchez, Emilie, Sanderson, Theo, Santucci, Pierre, Sardar, Fatima, Sateriale, Adam, Saunders, Jill A., Sawyer, Chelsea, Schlott, Anja, Schweighoffer, Edina, Segura-Bayona, Sandra, Shah Punatar, Rajvee, Shahmanesh, Maryam, Shaw, Joe, Silva Dos Santos, Mariana, Silvestre, Margaux, Singer, Matthew, Snell, Daniel M., Song, Ok-Ryul, Spyer, Moira J., Steel, Louisa, Strange, Amy, Sullivan, Adrienne E., Tan, Michele S.Y., Tautz-Davis, Zoe H., Taylor, Effie, Taylor, Gunes, Taylor, Harriet B., Taylor-Beadling, Alison, Teixeira Subtil, Fernanda, Terré Torras, Berta, Toolan-Kerr, Patrick, Torelli, Francesca, Toteva, Tea, Treeck, Moritz, Trojer, Hadija, Tsai, Ming-Han C., Turner, James M.A., Turner, Melanie, Ule, Jernej, Ulferts, Rachel, Vanloo, Sharon P., Veeriah, Selvaraju, Venkatesan, Subramanian, Vousden, Karen, Wack, Andreas, Walder, Claire, Walker, Philip A., Wang, Yiran, Ward, Sophia, Wenman, Catharina, Williams, Luke, Williams, Matthew J., Keong Wong, Wai, Wright, Joshua, Wu, Mary, Wynne, Lauren, Xiang, Zheng, Yap, Melvyn, Zagalak, Julian A., Zecchin, Davide, Zillwood, Rachel, Carthiyaniamma, Santhakumari, DeTisi, Jane, Dick, Julie, Hill, Andrea, Kipper, Karin, Kullar, Birinder, Norris, Sarah, Rugg-Gunn, Fergus, Salvatierra, Rebecca, Shaya, Gabriel, Sloan, Astrid, Singh, Priyanka, Varley, James, Whatley, Ben, Balestrini, Simona, Koepp, Matthias J., Gandhi, Sonia, Rickman, Hannah M., Shin, Gee Yen, Houlihan, Catherine F., Anders-Cannon, Jonny, Silvennoinen, Katri, Xiao, Fenglai, Zagaglia, Sara, Hudgell, Kirsty, Ziomek, Mariusz, Haimes, Paul, Sampson, Adam, Parker, Annie, Helen Cross, J., Pardington, Rosemarie, Nastouli, Eleni, Swanton, Charles, Sander, Josemir W., Sisodiya, Sanjay M.

Source: In Epilepsy & Behavior February 2021 115

A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early‐onset Charcot‐Marie‐Tooth disease with predominant severe sensory ataxia

Authors: Zambon, Alberto A., Pitt, Matthew, Laurà, Matilde, Polke, James M., Reilly, Mary M., Muntoni, Francesco

Source: Journal of the peripheral nervous system. 25(3):303-307

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100108130107.0x000001&indx=1&recIds=ETOCvdc_100108130107.0x000001

Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.

Authors: Record, Christopher J¹, Pipis, Menelaos¹, Skorupinska, Mariola¹, Blake, Julian^1,2, Poh, Roy³, Polke, James M³, Eggleton, Kelly³, Nanji, Tina³, Zuchner, Stephan^4,5, Cortese, Andrea¹, Houlden, Henry¹, Rossor, Alexander M¹, Laura, Matilde¹, Reilly, Mary M¹, m.reilly@ucl.ac.uk

Source: Brain: A Journal of Neurology; Sep2024, Vol. 147 Issue 9, p3144-3156, 13p

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

Authors: Horga, Alejandro, Woodward, Catherine E., Mills, Alberto, Pareés, Isabel, Hargreaves, Iain P., Brown, Ruth M., Bugiardini, Enrico, Brooks, Tony, Manole, Andreea, Remzova, Elena, Rahman, Shamima, Reilly, Mary M., Houlden, Henry, Sweeney, Mary G., Brown, Garry K., Polke, James M., Gago, Federico, Parton, Matthew J., Pitceathly, Robert D. S., Hanna, Michael G.

Source: Human genetics. 138(11-12):1313-1322

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125868588.0x000001&indx=1&recIds=ETOCvdc_100125868588.0x000001

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Intermediate conduction velocity in two cases of Charcot−Marie−Tooth disease type 1A.

Authors: Tomaselli, Pedro José, Blake, Julian, Polke, James M., do Nascimento, Osvaldo José Moreira, Reilly, Mary M., Marques Júnior, Wilson, Laurá, Matilde

Source: European Journal of Neurology; May2024, Vol. 31 Issue 5, p1-4, 4p

Subject Terms: CHARCOT-Marie-Tooth disease, MEDIAN nerve, ULNAR nerve, VELOCITY, NEURAL conduction, CARPAL tunnel syndrome, HEART block

A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene

Authors: Olszewska, Diana A., Fearon, Conor, McGuigan, Christopher, McVeigh, Terri P, Houlden, Henry, Polke, James M, Lawlor, Brian, Coen, Robert, Hutchinson, Michael, Hutton, Michael, Beausang, Alan, Delon, Isabelle, Brett, Francesca, Sevastou, Ioanna, Seto-Salvia, Nuria, de Silva, Rohan, Lynch, Tim

Source: In Neurobiology of Aging October 2021 106:343-343

Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene

Authors: Rossor, Alexander M. ^*, Morrow, Jasper M., Polke, James M., Murphy, Sinead M., Houlden, Henry, Laura, Matilde, Manji, Hadi, Blake, Julian, Reilly, Mary M.

Source: In Neuromuscular Disorders January 2017 27(1):50-56

Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.

Authors: Efthymiou, Stephanie, Lemmers, Richard J. L. F., Vishnu, Venugopalan Y., Dominik, Natalia, Perrone, Benedetta, Facchini, Stefano, Vegezzi, Elisa, Ravaglia, Sabrina, Wilson, Lindsay, van der Vliet, Patrick J., Mishra, Rinkle, Reyaz, Alisha, Ahmad, Tanveer, Bhatia, Rohit, Polke, James M., Srivastava, Mv Padma, Cortese, Andrea, Houlden, Henry, van der Maarel, Silvère M., Hanna, Michael G.

Source: Biomolecules (2218-273X); Nov2023, Vol. 13 Issue 11, p1567, 14p

Subject Terms: FACIOSCAPULOHUMERAL muscular dystrophy, GENE mapping, MOLECULAR diagnosis, PULSED-field gel electrophoresis, SOUTHERN blot, MUSCULAR dystrophy

Geographic Terms: INDIA, UNITED Kingdom

Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.

Authors: Pipis, Menelaos¹, Won, Seongsik², Poh, Roy¹, Efthymiou, Stephanie¹, Polke, James M¹, Skorupinska, Mariola¹, Blake, Julian^1,3, Rossor, Alexander M¹, Moran, John J², Munot, Pinki⁴, Muntoni, Francesco⁴, Laura, Matilde¹, Svaren, John², Reilly, Mary M¹, m.reilly@ucl.ac.uk

Source: Brain: A Journal of Neurology; Oct2023, Vol. 146 Issue 10, p4025-4032, 8p

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

Authors: Beck, Jon, Poulter, Mark, Hensman, Davina, Rohrer, Jonathan D., Mahoney, Colin J., Adamson, Gary, Campbell, Tracy, Uphill, James, Borg, Aaron, Fratta, Pietro, Orrell, Richard W., Malaspina, Andrea, Rowe, James, Brown, Jeremy, Hodges, John, Sidle, Katie, Polke, James M., Houlden, Henry, Schott, Jonathan M., Fox, Nick C., Rossor, Martin N., Tabrizi, Sarah J., Isaacs, Adrian M., Hardy, John, Warren, Jason D., Collinge, John, Mead, Simon

Source: In The American Journal of Human Genetics 7 March 2013 92(3):345-353

Plasma GFAP in presymptomatic and symptomatic familial Alzheimer's disease: a longitudinal cohort study.

Authors: O'Connor, Antoinette, Abel, Emily, Benedet, Andrea Lessa, Poole, Teresa, Ashton, Nicholas, John Weston, Philip Simon, Heslegrave, Amanda J., Ryan, Natalie, Barker, Suzie, Polke, James M., Blennow, Kaj, Zetterberg, Henrik, Fox, Nick C.

Source: Journal of Neurology, Neurosurgery & Psychiatry; Jan2023, Vol. 94 Issue 1, p90-92, 6p

Subject Terms: ALZHEIMER'S disease, CENTRAL nervous system injuries, LONGITUDINAL method, LEWY body dementia, GLIAL fibrillary acidic protein, COHORT analysis, DELIRIUM, PROSPECTIVE memory

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

Authors: Fratta, Pietro, Polke, James M. ^∗∗, Newcombe, Jia, Mizielinska, Sarah, Lashley, Tammaryn, Poulter, Mark, Beck, Jon, Preza, Elisavet, Devoy, Anny, Sidle, Katie, Howard, Robin, Malaspina, Andrea, Orrell, Richard W., Clarke, Jan, Lu, Ching-Hua, Mok, Kin, Collins, Toby, Shoaii, Maryam, Nanji, Tina, Wray, Selina, Adamson, Gary, Pittman, Alan, Renton, Alan E., Traynor, Bryan J., Sweeney, Mary G., Revesz, Tamas, Houlden, Henry, Mead, Simon, Isaacs, Adrian M., Fisher, Elizabeth M.C. ^∗∗∗

Source: In Neurobiology of Aging January 2015 36(1):546-546

Charcot-Marie-Tooth disease type 2CC due to variants causes a progressive, non-length-dependent, motor-predominant phenotype.

Authors: Pipis, Menelaos, Cortese, Andrea, Polke, James M., Poh, Roy, Vandrovcova, Jana, Laura, Matilde, Skorupinska, Mariola, Jacquier, Arnaud, Juntas-Morales, Raul, Latour, Philippe, Petiot, Philippe, Sole, Guilhem, Fromes, Yves, Shah, Sachit, Blake, Julian, Byung-Ok Choi, Ki Wha Chung, Stojkovic, Tanya, Rossor, Alexander M., Reilly, Mary M.

Source: Journal of Neurology, Neurosurgery & Psychiatry; Jan2022, Vol. 93 Issue 1, p48-56, 9p

Subject Terms: RESEARCH, NEURONS, GENETIC mutation, NERVE tissue proteins, TIBIAL nerve, RESEARCH methodology, MAGNETIC resonance imaging, MEDICAL cooperation, EVALUATION research, GENETIC carriers, COMPARATIVE studies, CHARCOT-Marie-Tooth disease, GENOTYPES, GENES, RESEARCH funding, GENETIC techniques, CYTOPLASM, GENEALOGY, PHENOTYPES

Severe cognitive impairment in a patient with CMT2A

Authors: Tomaselli, Pedro J., Kapoor, Mahima, Cortese, Andrea, Polke, James M., Rossor, Alexander M., Reilly, Mary M.

Source: Journal of the peripheral nervous system. 23(2):147-148

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100108681452.0x000001&indx=1&recIds=ETOCvdc_100108681452.0x000001

MFN2 deletion of exons 7 and 8: founder mutation in the UK population.

Authors: Carr, Aisling S.¹, Polke, James M.², Wilson, Jacob², Pelayo‐Negro, Ana L.^1,3, Laura, Matilde¹, Nanji, Tina², Holt, James⁴, Vaughan, Jennifer⁵, Rankin, Julia⁶, Sweeney, Mary G.², Blake, Julian^1,7, Houlden, Henry², Reilly, Mary M.¹

Source: Journal of the Peripheral Nervous System. Jun2015, Vol. 20 Issue 2, p67-71. 5p.

Subject Terms: *CHARCOT-Marie-Tooth disease, *DNA, *GENETIC mutation, *OPTIC nerve diseases, *WASTING syndrome, *HAPLOTYPES, *MUSCLE weakness, *SEQUENCE analysis, *GENETICS

Plasma amyloid-β ratios in autosomal dominant Alzheimer's disease: the influence of genotype.

Authors: O'Connor, Antoinette^1,2, n.fox@ucl.ac.uk, Pannee, Josef^3,4, Poole, Teresa^1,5, Arber, Charles⁶, Portelius, Erik^3,4, Swift, Imogen J², Heslegrave, Amanda J², Abel, Emily², Willumsen, Nanet⁶, Rice, Helen^1,2, Weston, Philip S J¹, Ryan, Natalie S^1,2, Polke, James M⁷, Nicholas, Jennifer M^1,5, Mead, Simon^8,9, Wray, Selina⁶, Chávez-Gutiérrez, Lucía^10,11, Frost, Chris⁵, Blennow, Kaj^3,4, Zetterberg, Henrik^2,3,4

Source: Brain: A Journal of Neurology; Oct2021, Vol. 144 Issue 10, p2964-2970, 7p

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