1. A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations. (26th March 2019) Authors: Sri, Anita; Daubeney, Piers; Prasad, Sanjay; Baksi, John; Kinali, Maria; Voges, Inga Other Names: Cogulu Ozgur Academic Editor. Journal: Case reports in pediatrics Issue: Volume 2019(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A microRNA‐328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy. Issue 7 (2nd June 2016) Authors: Panjwani, Naim; Wilson, Michael D.; Addis, Laura; Crosbie, Jennifer; Wirrell, Elaine; Auvin, Stéphane; Caraballo, Roberto H.; Kinali, Maria; McCormick, David; Oren, Caroline; Taylor, Jacqueline; Trounce, John; Clarke, Tara; Akman, Cigdem I.; Kugler, Steven L.; Mandelbaum, David E.; McGoldrick, Pa... Journal: Annals of clinical and translational neurology Issue: Volume 3:Issue 7(2016) Page Start: 512 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Delineation of the movement disorders associated with FOXG1 mutations. (10th May 2016) Authors: Papandreou, Apostolos; Schneider, Ruth B.; Augustine, Erika F.; Ng, Joanne; Mankad, Kshitij; Meyer, Esther; McTague, Amy; Ngoh, Adeline; Hemingway, Cheryl; Robinson, Robert; Varadkar, Sophia M.; Kinali, Maria; Salpietro, Vincenzo; O'Driscoll, Margaret C.; Basheer, S. Nigel; Webster, Richard I.; M... Journal: Neurology Issue: Volume 86:Number 19(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses. Issue 9 (22nd May 2018) Authors: Addis, Laura; Sproviero, William; Thomas, Sanjeev V; Caraballo, Roberto H; Newhouse, Stephen J; Gomez, Kumudini; Hughes, Elaine; Kinali, Maria; McCormick, David; Hannan, Siobhan; Cossu, Silvia; Taylor, Jacqueline; Akman, Cigdem I; Wolf, Steven M; Mandelbaum, David E; Gupta, Rajesh; van der Spek, ... Journal: Journal of medical genetics Issue: Volume 55:Issue 9(2018) Page Start: 607 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Isolated bulbar palsy and dysphagia in children with respiratory symptoms. (2nd October 2021) Authors: Zimmels, Stacey; Balfour‐Lynn, Ian M; Christodoulou, Loucas; Pantazi, Mantha; Pavlidou, Efterpi; Pitt, Matthew; Kinali, Maria; Ismayilova, Naila Journal: Developmental medicine & child neurology Issue: Volume 64:Number 4(2022) Page Start: 518 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mitochondria DNA Depletion Syndrome in a Infant with Multiple Congenital Malformations, Severe Myopathy, and Prolonged Postoperative Paralysis. (April 2015) Authors: Thomas, Mark; Salpietro, Vincenzo; Canham, Natalie; Ruggieri, Martino; Phadke, Rahul; Kinali, Maria Journal: Journal of child neurology Issue: Volume 30:Number 5(2015:Apr.) Page Start: 654 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Neurological manifestations of SARS-CoV-2 infection in hospitalised children and adolescents in the UK: a prospective national cohort study. (September 2021) Authors: Ray, Stephen T J; Abdel-Mannan, Omar; Sa, Mario; Fuller, Charlotte; Wood, Greta K; Pysden, Karen; Yoong, Michael; McCullagh, Helen; Scott, David; McMahon, Martin; Thomas, Naomi; Taylor, Micheal; Illingworth, Marjorie; McCrea, Nadine; Davies, Victoria; Whitehouse, William; Zuberi, Sameer; Guthrie,... Journal: Lancet Issue: Volume 5:Number 9(2021) Page Start: 631 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution. (9th April 2022) Authors: Frasca, Angelisa; Pavlidou, Efterpi; Bizzotto, Matteo; Gao, Yunan; Balestra, Dario; Pinotti, Mirko; Dahl, Hans Atli; Mazarakis, Nicholas D.; Landsberger, Nicoletta; Kinali, Maria Journal: Neurology Issue: Volume 8:Number 2(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures. (29th May 2020) Authors: 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; Hussa... Other Names: Craiu Dana investigator.; Davila Carol investigator.; Obregia Alexandru investigator.; De Jonghe Peter investigator.; Lehesjoki Anna‐Elina investigator.; Muhle Hiltrud investigator.; Neubauer Bernd investigator.; Selmer Kaja investigator.; Stephani Ulrich investigator.; Sterbova Katalin investiga... Journal: Epilepsia Issue: Volume 61:issue 5(2020) Page Start: 995 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency. (May 2016) Authors: Pavlidou, Efterpi; Salpietro, Vincenzo; Phadke, Rahul; Hargreaves, Iain P.; Batten, Leigh; McElreavy, Kenneth; Pitt, Matthew; Mankad, Kshitij; Wilson, Clare; Cutrupi, Maria Concetta; Ruggieri, Martino; McCormick, David; Saggar, Anand; Kinali, Maria Journal: European journal of paediatric neurology Issue: Volume 20:Number 3(2016:May) Page Start: 483 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗