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Parkinsonism & Related Disorders, ISSN 1353-8020, 11/2019, Volume 68, pp. 63 - 64
Journal Article
Nervenarzt, ISSN 0028-2804, 10/2017, Volume 88, Issue 10, pp. 1141 - 1146
Journal Article
Movement Disorders, ISSN 0885-3185, 11/2016, Volume 31, Issue 11, pp. 1759 - 1760
Journal Article
by Gorman, Kathleen M and Meyer, Esther and Grozeva, Detelina and Spinelli, Egidio and McTague, Amy and Sanchis-Juan, Alba and Carss, Keren and Carss, Keren J and Bryant, Emily and Reich, Adi and Schneider, Amy L and Pressler, Ronit M and Simpson, Michael A and Debelle, Geoff D and Wassmer, Evangeline and Morton, Jenny and Sieciechowicz, Diana and Jan-Kamsteeg, Eric and Paciorkowski, Alex R and King, Daniel and King, Mary D and Cross, J. Helen and Cross, Gareth and Poduri, Annapurna and Mefford, Heather C and Scheffer, Ingrid E and Haack, Tobias B and McCullagh, Gary and McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Barrett, Jeffrey C and Bayzetinova, Tanya and Jones, Philip and Jones, Elizabeth and Jones, Wendy D and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Bennett, David and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, John R and Bradley, Lisa and Brady, Angela and Brady, Angie and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Guy and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collins, Peter and Collinson, Morag N and Connell, Fiona and Cooper, Nichola and Cooper, Nicola and Cox, Tony and ... and NIHR BioResource and Deciphering Dev Disorders Study and UK10K Consortium and Deciphering Developmental Disorders Study
The American Journal of Human Genetics, ISSN 0002-9297, 05/2019, Volume 104, Issue 5, pp. 948 - 956
The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon.... 
epilepsy | CACNA1B | epilepsy-dyskinesia | developmental and epileptic encephalopathy (DEE) | ENCEPHALOPATHIES | CLASSIFICATION | DE-NOVO MUTATIONS | CALCIUM-CHANNELS | GENETICS & HEREDITY | MYOCLONUS-DYSTONIA
Journal Article
Neuroscience Letters, ISSN 0304-3940, 06/2019, Volume 703, pp. 1 - 4
Myoclonus-Dystonia (M-D) is a rare autosomal-dominant movement disorder characterized by myoclonic jerks in combination with dystonia and psychiatric features.... 
SGCE mutations | Sporadic cases | Myoclonus-Dystonia | Epsilon-sarcoglycan | Medical research | Myoclonus | Pharmacy | Medical genetics | Medicine, Experimental | Genetic aspects | Dystonia
Journal Article
JOURNAL OF CLINICAL NEUROSCIENCE, ISSN 0967-5868, 04/2018, Volume 50, pp. 131 - 132
We present a case of myoclonus-dystonia syndrome illustrated by three videos in which we found a novel SGCE mutation. As the patient described here was... 
Myoclonus dystonia | DYT11 | SGCE gene | Psychiatric symptoms | NEUROSCIENCES | CLINICAL NEUROLOGY | Novel mutation
Journal Article
Parkinsonism and Related Disorders, ISSN 1353-8020, 04/2019, Volume 61, pp. 161 - 165
Although focal motor seizures may resemble one or more movement disorders their phenomenology and prevalence remain uncertain. To examine the extent to which... 
Focal seizure | Dystonia | Myoclonus | Epilepsy | Movement disorders | ILAE | EPILEPTIC SEIZURES | CLASSIFICATION | CLINICAL NEUROLOGY | MYOCLONUS-DYSTONIA | Seizures (Medicine) | Pediatric neurology
Journal Article
Neuropediatrics, ISSN 0174-304X, 10/2019, Volume 50, Issue 5, pp. 327 - 331
Abstract The X-linked alpha thalassemia mental retardation (ATR-X) syndrome is a genetic disorder caused by X-linked recessive mutations in ATRX gene, related... 
Short Communication | MENTAL-RETARDATION | PEDIATRICS | premature pubarche | myoclonus-dystonia | ATR-X syndrome | epileptic encephalopathy | X SYNDROME | CLINICAL NEUROLOGY
Journal Article