| 1 |
Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation.
24
|
Jones HF...Mohammad SS
|
31034681 |
2019 |
| 2 |
Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation.
24
|
Marce-Grau A...Perez-Duenas B
|
30642807 |
2019 |
| 3 |
A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder.
24
|
Graziola F...Capuano A
|
30579817 |
2019 |
| 4 |
Thalamus Stimulation for Myoclonus Dystonia Syndrome: Five Cases and Long-Term Follow-up.
24
|
Zhang YQ...Li JP
|
30419400 |
2019 |
| 5 |
Long-term GPi-DBS improves motor features in myoclonus-dystonia and enhances social adjustment.
24
|
Kosutzka Z...Vidailhet M
|
30302819 |
2019 |
| 6 |
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
24
|
Hemati P...Anyane-Yeboa K
|
30194818 |
2018 |
| 7 |
Treatment of Myoclonus-dystonia with carbamazepine.
24
|
Sanjari Moghaddam H...Aghamollaii V
|
29853296 |
2018 |
| 8 |
Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations.
24
|
Levy A...Lang AE
|
29436738 |
2018 |
| 9 |
Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment.
24
|
Roze E...Vidailhet M
|
29952836 |
2018 |
| 10 |
TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia.
24
|
Geiger JT...Scholz SW
|
28966590 |
2017 |
| 11 |
ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.
24
|
Douglas AG...Foulds NC
|
28229249 |
2017 |
| 12 |
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
24
|
Lohmann K...Martemyanov KA
|
28087732 |
2017 |
| 13 |
Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome.
24
|
Xiao J...LeDoux MS
|
27890709 |
2017 |
| 14 |
Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.
24
|
Steinrucke S...Munchau A
|
27668284 |
2016 |
| 15 |
A randomized, controlled, double-blind, crossover trial of zonisamide in myoclonus-dystonia.
24
|
Hainque E...Roze E
|
27053715 |
2016 |
| 16 |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
24
|
Petrovski S...Goldstein DB
|
27108799 |
2016 |
| 17 |
Timing, rates and spectra of human germline mutation.
24
|
Rahbari R...Hurles ME
|
26656846 |
2016 |
| 18 |
Psychiatric disorders, myoclonus dystonia and SGCE: an international study.
24
|
Peall KJ...Tijssen MA
|
26783545 |
2016 |
| 19 |
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.
24
|
Chen DH...Raskind WH
|
26537056 |
2015 |
| 20 |
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
24
|
Mencacci NE...Wood NW
|
25983243 |
2015 |
| 21 |
Pallidal stimulation for myoclonus-dystonia: Ten years' outcome in two patients.
24
|
Roze E...Grabli D
|
25787304 |
2015 |
| 22 |
RELN rare variants in myoclonus-dystonia.
24
|
Groen JL...Tijssen MA
|
25648840 |
2015 |
| 23 |
SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.
24
|
Peall KJ...Morris HR
|
25209853 |
2014 |
| 24 |
Treatment of myoclonus-dystonia syndrome with tetrabenazine.
24
|
Luciano AY...LeDoux MS
|
25406829 |
2014 |
| 25 |
The neurophysiological features of myoclonus-dystonia and differentiation from other dystonias.
24
|
Popa T...Roze E
|
24638021 |
2014 |
| 26 |
Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.
24
|
Haugarvoll K...Bindoff LA
|
24297365 |
2014 |
| 27 |
Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.
24
|
Sheridan MB...Batista DA
|
23237735 |
2013 |
| 28 |
Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.
24
|
Carecchio M...Valente EM
|
23677909 |
2013 |
| 29 |
Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.
24
|
Saunders-Pullman R...Bressman SB
|
22345219 |
2012 |
| 30 |
Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis.
24
|
Dale RC...Peters GB
|
21425342 |
2011 |
| 31 |
SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?
24
|
Ritz K...Baas F
|
21157498 |
2011 |
| 32 |
Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7.
24
|
Stark Z...Savarirayan R
|
20684011 |
2010 |
| 33 |
Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia.
24
|
Foncke EM...Tijssen MA
|
19913450 |
2010 |
| 34 |
Excellent response to oral zolpidem in a sporadic case of the myoclonus dystonia syndrome.
24
|
Park IS...Lee KS
|
19735067 |
2009 |
| 35 |
Myoclonus-dystonia: clinical and genetic evaluation of a large cohort.
24
|
Ritz K...Tijssen MA
|
19066193 |
2009 |
| 36 |
Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history.
24
|
Gerrits MC...Tijssen MA
|
18571946 |
2009 |
| 37 |
Responsiveness to levodopa in epsilon-sarcoglycan deletions.
24
|
Luciano MS...Saunders-Pullman R
|
19133653 |
2009 |
| 38 |
Myoclonus-dystonia due to maternal uniparental disomy.
24
|
Guettard E...Roze E
|
18852357 |
2008 |
| 39 |
Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations.
24
|
Roze E...Vidailhet M
|
18362280 |
2008 |
| 40 |
Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.
24
|
Raymond D...Bressman S
|
18175340 |
2008 |
| 41 |
Myoclonus-dystonia: significance of large SGCE deletions.
24
|
Grunewald A...Klein C
|
18205193 |
2008 |
| 42 |
Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene.
24
|
Bonnet C...Jonveaux P
|
18651096 |
2008 |
| 43 |
Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype.
24
|
Asmus F...Gasser T
|
17898012 |
2007 |
| 44 |
Novel and de novo mutations of the SGCE gene in Brazilian patients with myoclonus-dystonia.
24
|
Borges V...Ozelius LJ
|
17394244 |
2007 |
| 45 |
Refinement of the DYT15 locus in myoclonus dystonia.
24
|
Han F...Grimes DA
|
17274032 |
2007 |
| 46 |
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.
24
|
Tezenas du Montcel S...French Dystonia Network
|
16227522 |
2006 |
| 47 |
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.
24
|
Asmus F...Gasser T
|
16240355 |
2005 |
| 48 |
A pilot tolerability and efficacy trial of sodium oxybate in ethanol-responsive movement disorders.
24
|
Frucht SJ...Reardan D
|
15986420 |
2005 |
| 49 |
The epsilon-sarcoglycan gene in myoclonic syndromes.
24
|
Valente EM...Bhatia KP
|
15728306 |
2005 |
| 50 |
Inherited myoclonus-dystonia and epilepsy: further evidence of an association?
24
|
O'Riordan S...Lynch T
|
15389977 |
2004 |
