Results 281 to 290 of about 59,798 (297)

Twenty years on: Myoclonus‐dystonia and ε‐sarcoglycan — neurodevelopment, channel, and signaling dysfunction

Movement Disorders, 2019
Myoclonus‐dystonia is a clinical syndrome characterized by a typical childhood onset of myoclonic jerks and dystonia involving the neck, trunk, and upper limbs.
E. Menozzi, B. Balint, A. Latorre, E. Valente, J. Rothwell, K. Bhatia   +5 more
semanticscholar   +1 more source

Myoclonus‐dystonia caused by GNB1 mutation responsive to deep brain stimulation

Movement Disorders, 2019
Myoclonus-dystonia is commonly caused by mutations in SGCE, but other genotypes including ADCY5 and KCTD17 mutations have been recently described. We report the first patient with myoclonus-dystonia caused by a Guanine nucleotide-binding protein, beta-1 (
H. Jones, Hugo Morales-Briceño, Katy Barwick, Jennifer S Lewis, Alba Sanchis-Juan, F. Raymond, Kirsty Stewart, M. Waugh, N. Mahant, M. Kurian, R. Dale, S. Mohammad   +11 more
semanticscholar   +1 more source

Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment

Current Opinion in Neurology, 2018
Purpose of review The present study will highlight recent advances in the field of myoclonus-dystonia with a focus on clinical aspects, pathogenesis, and treatment. We will also discuss genetics, classification issues, and diagnostic criteria.
E. Roze, A. Lang, M. Vidailhet
semanticscholar   +1 more source

Long‐term GPi‐DBS improves motor features in myoclonus‐dystonia and enhances social adjustment

Movement Disorders, 2018
Good short‐term results of pallidal deep brain stimulation have been reported in myoclonus‐dystonia. Efficacy and safety in the long term remain to be established. In addition, the actual impact of DBS treatment on social inclusion is unknown.
Zuzana Kosutzka, S. Tisch, C. Bonnet, Marta Ruiz, E. Hainque, M. Welter, F. Viallet, C. Karachi, S. Navarro, M. Jahanshahi, S. Rivaud-Pechoux, D. Grabli, E. Roze, M. Vidailhet   +13 more
semanticscholar   +1 more source

Opsoclonus–myoclonus–ataxia syndrome in children

Journal of Neurology, 2021
P. Bhatia, Jennifer Heim, P. Cornejo, L. Kane, J. Santiago, M. Kruer   +5 more
semanticscholar   +1 more source

Deep brain stimulation for myoclonus dystonia syndrome: a meta-analysis with individual patient data

Neurosurgical review, 2020
Xin Wang, Xinguang Yu
semanticscholar   +1 more source

Update on opsoclonus–myoclonus syndrome in adults

Journal of Neurology, 2018
Sun-Young Oh, Ji-Soo Kim, M. Dieterich
semanticscholar   +1 more source

Alcohol improves cerebellar learning deficit in myoclonus–dystonia: A clinical and electrophysiological investigation

Annals of Neurology, 2017
A. Weissbach, E. Werner, Julien F. Bally, S. Tunc, Sebastian Löns, D. Timmann, K. Zeuner, V. Tadić, N. Brüggemann, A. Lang, C. Klein, A. Münchau, T. Bäumer   +12 more
semanticscholar   +1 more source

Reappraisal of cortical myoclonus: A retrospective study of clinical neurophysiology

Movement Disorders, 2018
A. Latorre, L. Rocchi, A. Berardelli, J. Rothwell, K. Bhatia, C. Cordivari   +5 more
semanticscholar   +1 more source