Detalhe da pesquisa
1.
The natural history of progressive myoclonus Ataxia.
Neurobiol Dis
; : 106555, 2024 Jun 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38844245
2.
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.
Clin Genet
; 100(6): 692-702, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34463354
3.
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
Am J Med Genet A
; 182(10): 2272-2283, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32776697
4.
Paediatric motor phenotypes in early-onset ataxia, developmental coordination disorder, and central hypotonia.
Dev Med Child Neurol
; 62(1): 75-82, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31529709
5.
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
Brain
; 140(11): 2860-2878, 2017 Nov 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29053796
6.
Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.
Am J Med Genet B Neuropsychiatr Genet
; 177(1): 35-39, 2018 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-29095566
7.
Dystonia-deafness syndrome caused by a ß-actin gene mutation and response to deep brain stimulation.
Mov Disord
; 32(1): 162-165, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27862284
8.
A post hoc study on gene panel analysis for the diagnosis of dystonia.
Mov Disord
; 32(4): 569-575, 2017 04.
Artigo
Inglês
| MEDLINE | ID: mdl-28186668
9.
Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm.
J Neurol Neurosurg Psychiatry
; 86(7): 774-81, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25395479
10.
De novo SPAST mutations may cause a complex SPG4 phenotype.
Brain
; 142(7): e31, 2019 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31157359
11.
Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.
Mov Disord
; 29(1): 139-43, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24458321
12.
Central 22q11.2 deletions.
Am J Med Genet A
; 164A(11): 2707-23, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25123976
13.
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
Brain
; 135(Pt 10): 2994-3004, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-22964162
14.
Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia.
Neurol Genet
; 9(1): e200050, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38058854
15.
Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.
J Neurol
; 269(11): 6086-6093, 2022 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-35864213
16.
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.
Front Genet
; 13: 782685, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35401678
17.
Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.
Neurogenetics
; 12(4): 263-71, 2011 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-21993715
18.
In children with Friedreich ataxia, muscle and ataxia parameters are associated.
Dev Med Child Neurol
; 53(6): 529-34, 2011 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-21574990
19.
Predictive genetic testing in Huntington's disease: should a neurologist be involved?
Eur J Hum Genet
; 28(9): 1205-1209, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32404886
20.
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
J Neuromuscul Dis
; 6(2): 241-258, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31127727