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

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Exome sequencing in undiagnosed inherited and sporadic ataxias by Pyle, Angela, Smertenko, Tania, Bargiela, David, Griffin, Helen, Duff, Jennifer, Appleton, Marie, Douroudis, Konstantinos, Pfeffer, Gerald, Santibanez-Koref, Mauro, Eglon, Gail, Yu-Wai-Man, Patrick, Ramesh, Venkateswaran, Horvath, Rita, Chinnery, Patrick F.

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TUBA1A Mutation-Associated Lissencephaly: Case Report and Review of the Literature by Sohal, Aman P.S., MBBS, Montgomery, Tara, MBBS, Mitra, Dipayan, MD, Ramesh, Venkateswaran, MBBS DCh

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Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis by RAMESH, VENKATESWARAN, BERNARDI, BRUNO, STAFA, ALTIN, GARONE, CATERINA, FRANZONI, EMILIO, ABINUN, MARIO, MITCHELL, PATRICK, MITRA, DIPAYAN, FRISWELL, MARK, NELSON, JOHN, SHALEV, STAVIT A, RICE, GILLIAN I, GORNALL, HANNAH, SZYNKIEWICZ, MARCIN, AYMARD, FRANÇOIS, GANESAN, VIJEYA, PRENDIVILLE, JULIE, LIVINGSTON, JOHN H, CROW, YANICK J

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The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG -related mitocho... by Ng, Yi Shiau, van Ruiten, Henriette, Lai, H Ming, Scott, Rebecca, Ramesh, Venkateswaran, Horridge, Karen, Taylor, Robert W, Turnbull, Doug M, Gorman, Gráinne S, McFarland, Robert, Baker, Mark R

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Functional neurological disorders in children and young people by Ramesh, Venkateswaran

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Diagnostic lumbar puncture in suspected acute bacterial meningitis: avoiding catastrophe by Ramesh, Venkateswaran

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Mortality in Dravet syndrome by Cooper, Monica S, Mcintosh, Anne, Crompton, Douglas E, McMahon, Jacinta M, Schneider, Amy, Farrell, Kevin, Ganesan, Vijeya, Gill, Deepak, Kivity, Sara, Lerman-Sagie, Tally, McLellan, Ailsa, Pelekanos, James, Ramesh, Venkateswaran, Sadleir, Lynette, Wirrell, Elaine, Scheffer, Ingrid E

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Severe cortical damage associated with COVID-19 case report by Zombori, Luca, Bacon, Melody, Wood, Hannah, Chatterjee, Fiona, Venkateswaran, Ramesh, Lampariello, Simona, Yoong, Michael

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Exome sequencing in undiagnosed inherited and sporadic ataxias by Pyle, Angela, Smertenko, Tania, Bargiela, David, Griffin, Helen, Duff, Jennifer, Appleton, Marie, Douroudis, Konstantinos, Pfeffer, Gerald, Santibanez-Koref, Mauro, Eglon, Gail, Yu-Wai-Man, Patrick, Ramesh, Venkateswaran, Horvath, Rita, Chinnery, Patrick F

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Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration by Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia K., Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj P., Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Pochiero, Francesca, Ramesh, Venkateswaran, Capra, Valeria, Mancardi, Margherita, Keren, Boris, Mignot, Cyiril, Lulli, Matteo, Parks, Kendall, Griffin, Helen, Nigro, Vincenzo, Hirata, Yuko, Koichihara, Reiko, Peterlin, Borut, Maki, Ryuto, Nitta, Yohei, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boustred, Christopher R., Brittain, Helen, Brown, Matthew A., Caulfield, Mark J., Chan, Georgia C., Giess, Adam, Griffin, John N., Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lakey, Anna, Lopez, Javier F., Maleady-Crowe, Fiona, Minneci, Federico, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Rahim, Tahrima, Rendon, Augusto, Sawant, Kushmita, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Torella, Annalaura, Tohyama, Jun, Hamada, Keisuke, Ogata, Kazuhiro, Sugie, Atsushi, van der Smagt, Jasper J., van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Ratto, Gian Michele, Guerrini, Renzo

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The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy by Bansagi, Boglarka, Griffin, Helen, Ramesh, Venkateswaran, Duff, Jennifer, Pyle, Angela, Chinnery, Patrick F, Horvath, Rita

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Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood by Lewis-Smith, David, Kamer, Kimberli J, Griffin, Helen, Childs, Anne-Marie, Pysden, Karen, Titov, Denis, Duff, Jennifer, Pyle, Angela, Taylor, Robert W, Yu-Wai-Man, Patrick, Ramesh, Venkateswaran, Horvath, Rita, Mootha, Vamsi K, Chinnery, Patrick F

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Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome by Cross, J Helen, Arora, Ruchi, Heckemann, Rolf A, Gunny, Roxana, Chong, Kling, Carr, Lucinda, Baldeweg, Torsten, Differ, Ann‐Marie, Lench, Nicholas, Varadkar, Sophie, Sirimanna, Tony, Wassmer, Evangeline, Hulton, Sally A, Ognjanovic, Milos, Ramesh, Venkateswaran, Feather, Sally, Kleta, Robert, Hammers, Alexander, Bockenhauer, Detlef

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Treatment of primary angiitis of the central nervous system in childhood with mycophenolate mofetil by Sen, Ethan S., Leone, Valentina, Abinun, Mario, Forsyth, Robert, Ramesh, Venkateswaran, Friswell, Mark, O’Callaghan, Finbar, Ramanan, Athimalaipet V.

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FHF1 (FGF12) epileptic encephalopathy by Al-Mehmadi, Sameer, Splitt, Miranda, Ramesh, Venkateswaran, DeBrosse, Suzanne, Dessoffy, Kimberly, Xia, Fan, Yang, Yaping, Rosenfeld, Jill A, Cossette, Patrick, Michaud, Jacques L, Hamdan, Fadi F, Campeau, Philippe M, Minassian, Berge A

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Use of whole exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiency 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.

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Coma Blisters in 2 Children on Anticonvulsant Medication by Basu, Anna, Brown, Sara, Kirkham, Nigel, Ramesh, Venkateswaran, Leech, Suzy, Devlin, Anita

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Heterogeneity of juvenile dermatomyositis by Abinun, Mario, Foster, Helen E, Ramesh, Venkateswaran, Craft, Alan W

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Comparing carbide and PCD with HSS tool for surface roughness in drilling of Al6061/SiC/Al2O3 novel composite by Venkateswaran, D., Muniappan, A.

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