1 |
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.
6
25
|
Asmus F...Gasser T
|
16240355 |
2005 |
2 |
The epsilon-sarcoglycan gene in myoclonic syndromes.
6
25
|
Valente EM...Bhatia KP
|
15728306 |
2005 |
3 |
Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families.
6
25
|
Han F...Grimes DA
|
12874409 |
2003 |
4 |
Hereditary myoclonus-dystonia associated with epilepsy.
6
25
|
Foncke EM...Tijssen MA
|
12821748 |
2003 |
5 |
A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome.
6
25
|
Hjermind LE...Sorensen SA
|
12743249 |
2003 |
6 |
Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.
6
25
|
Klein C...Ozelius LJ
|
12402271 |
2002 |
7 |
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.
6
25
|
Zimprich A...Gasser T
|
11528394 |
2001 |
8 |
Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia.
6
|
Foncke EM...Tijssen MA
|
17101905 |
2006 |
9 |
Inherited myoclonus-dystonia: how many causative genes and clinical phenotypes?
6
|
Furukawa Y...Rajput AH
|
12391338 |
2002 |
10 |
Clinical findings of a myoclonus-dystonia family with two distinct mutations.
6
|
Doheny D...Silverman JM
|
12391355 |
2002 |
11 |
Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.
6
|
Leung JC...Breakefield XO
|
11523564 |
2001 |
12 |
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.
6
|
Klein C...Ozelius LJ
|
10220438 |
1999 |
13 |
Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation.
25
|
Jones HF...Mohammad SS
|
31034681 |
2019 |
14 |
A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder.
25
|
Graziola F...Capuano A
|
30579817 |
2019 |
15 |
Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation.
25
|
Marce-Grau A...Perez-Duenas B
|
30642807 |
2019 |
16 |
Thalamus Stimulation for Myoclonus Dystonia Syndrome: Five Cases and Long-Term Follow-up.
25
|
Zhang YQ...Li JP
|
30419400 |
2019 |
17 |
Long-term GPi-DBS improves motor features in myoclonus-dystonia and enhances social adjustment.
25
|
Kosutzka Z...Vidailhet M
|
30302819 |
2019 |
18 |
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
25
|
Hemati P...Anyane-Yeboa K
|
30194818 |
2018 |
19 |
Treatment of Myoclonus-dystonia with carbamazepine.
25
|
Sanjari Moghaddam H...Aghamollaii V
|
29853296 |
2018 |
20 |
Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment.
25
|
Roze E...Vidailhet M
|
29952836 |
2018 |
21 |
Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations.
25
|
Levy A...Lang AE
|
29436738 |
2018 |
22 |
TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia.
25
|
Geiger JT...Scholz SW
|
28966590 |
2017 |
23 |
ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.
25
|
Douglas AG...Foulds NC
|
28229249 |
2017 |
24 |
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
25
|
Lohmann K...Martemyanov KA
|
28087732 |
2017 |
25 |
Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome.
25
|
Xiao J...LeDoux MS
|
27890709 |
2017 |
26 |
Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.
25
|
Steinrucke S...Munchau A
|
27668284 |
2016 |
27 |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
25
|
Petrovski S...Goldstein DB
|
27108799 |
2016 |
28 |
A randomized, controlled, double-blind, crossover trial of zonisamide in myoclonus-dystonia.
25
|
Hainque E...Roze E
|
27053715 |
2016 |
29 |
Timing, rates and spectra of human germline mutation.
25
|
Rahbari R...Hurles ME
|
26656846 |
2016 |
30 |
Psychiatric disorders, myoclonus dystonia and SGCE: an international study.
25
|
Peall KJ...Tijssen MA
|
26783545 |
2016 |
31 |
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.
25
|
Chen DH...Raskind WH
|
26537056 |
2015 |
32 |
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
25
|
Mencacci NE...Wood NW
|
25983243 |
2015 |
33 |
Pallidal stimulation for myoclonus-dystonia: Ten years' outcome in two patients.
25
|
Roze E...Grabli D
|
25787304 |
2015 |
34 |
RELN rare variants in myoclonus-dystonia.
25
|
Groen JL...Tijssen MA
|
25648840 |
2015 |
35 |
Treatment of myoclonus-dystonia syndrome with tetrabenazine.
25
|
Luciano AY...LeDoux MS
|
25406829 |
2014 |
36 |
SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.
25
|
Peall KJ...Morris HR
|
25209853 |
2014 |
37 |
The neurophysiological features of myoclonus-dystonia and differentiation from other dystonias.
25
|
Popa T...Roze E
|
24638021 |
2014 |
38 |
Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.
25
|
Haugarvoll K...Bindoff LA
|
24297365 |
2014 |
39 |
Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.
25
|
Sheridan MB...Batista DA
|
23237735 |
2013 |
40 |
Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.
25
|
Carecchio M...Valente EM
|
23677909 |
2013 |
41 |
Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.
25
|
Saunders-Pullman R...Bressman SB
|
22345219 |
2012 |
42 |
Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis.
25
|
Dale RC...Peters GB
|
21425342 |
2011 |
43 |
SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?
25
|
Ritz K...Baas F
|
21157498 |
2011 |
44 |
Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7.
25
|
Stark Z...Savarirayan R
|
20684011 |
2010 |
45 |
Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia.
25
|
Foncke EM...Tijssen MA
|
19913450 |
2010 |
46 |
Excellent response to oral zolpidem in a sporadic case of the myoclonus dystonia syndrome.
25
|
Park IS...Lee KS
|
19735067 |
2009 |
47 |
Myoclonus-dystonia: clinical and genetic evaluation of a large cohort.
25
|
Ritz K...Tijssen MA
|
19066193 |
2009 |
48 |
Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history.
25
|
Gerrits MC...Tijssen MA
|
18571946 |
2009 |
49 |
Responsiveness to levodopa in epsilon-sarcoglycan deletions.
25
|
Luciano MS...Saunders-Pullman R
|
19133653 |
2009 |
50 |
Myoclonus-dystonia due to maternal uniparental disomy.
25
|
Guettard E...Roze E
|
18852357 |
2008 |