PubRank

Bart P C van de Warrenburg

Author PubWeight™ 43.75‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat 2013 2.07
2 Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet 2010 1.40
3 Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. Hum Mutat 2012 1.19
4 ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. Neurogenetics 2008 1.17
5 Depression comorbidity in spinocerebellar ataxia. Mov Disord 2011 1.15
6 Reliability and validity of the International Cooperative Ataxia Rating Scale: a study in 156 spinocerebellar ataxia patients. Mov Disord 2006 1.10
7 Cortical excitability is abnormal in patients with the "fixed dystonia" syndrome. Mov Disord 2008 1.06
8 StartReact restores reaction time in HSP: evidence for subcortical release of a motor program. J Neurosci 2014 1.02
9 Hereditary spastic paraplegia caused by a mutation in the VCP gene. Brain 2012 1.02
10 Reviewing the genetic causes of spastic-ataxias. Neurology 2012 0.99
11 Falls in spinocerebellar ataxias: Results of the EuroSCA Fall Study. Cerebellum 2010 0.98
12 Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene. J Neurol 2013 0.94
13 Task-free functional MRI in cervical dystonia reveals multi-network changes that partially normalize with botulinum toxin. PLoS One 2013 0.94
14 Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findings. Cerebellum 2012 0.93
15 Paramedical treatment in primary dystonia: a systematic review. Mov Disord 2009 0.93
16 The clinical approach to movement disorders. Nat Rev Neurol 2010 0.92
17 Compensatory activity in the extrastriate body area of Parkinson's disease patients. J Neurosci 2012 0.90
18 Mechanisms of postural instability in hereditary spastic paraplegia. J Neurol 2013 0.90
19 Cerebral pathological and compensatory mechanisms in the premotor phase of leucine-rich repeat kinase 2 parkinsonism. Brain 2012 0.89
20 Improving the diagnostic accuracy in parkinsonism: a three-pronged approach. Pract Neurol 2012 0.88
21 Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype. Mov Disord 2006 0.87
22 Kleefstra syndrome in three adult patients: further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course. Am J Med Genet A 2011 0.87
23 Nonmotor symptoms in Parkin gene-related parkinsonism. Mov Disord 2010 0.87
24 Reduced parietal connectivity with a premotor writing area in writer's cramp. Mov Disord 2012 0.84
25 Genetics of the dominant ataxias. Semin Neurol 2012 0.83
26 Self-rated health status in spinocerebellar ataxia--results from a European multicenter study. Mov Disord 2010 0.83
27 Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations. Neurogenetics 2011 0.82
28 A practical approach to late-onset cerebellar ataxia: putting the disorder with lack of order into order. Pract Neurol 2012 0.82
29 Paraneoplastic cerebellar ataxia due to burnt-out testicular germ cell tumour? Eur Neurol 2007 0.82
30 Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs. Psychopathology 2012 0.82
31 A novel KCNA1 mutation causing episodic ataxia type I. Muscle Nerve 2014 0.82
32 Altered striatal and pallidal connectivity in cervical dystonia. Brain Struct Funct 2013 0.81
33 Clinical, psychological, and genetic characteristics of spinocerebellar ataxia type 19 (SCA19). Cerebellum 2005 0.81
34 Phenotypes and genetic architecture of focal primary torsion dystonia. J Neurol Neurosurg Psychiatry 2012 0.81
35 Atypical dystonic shoulder movements following neuralgic amyotrophy. Mov Disord 2009 0.81
36 The syndrome of (predominantly cervical) dystonia and cerebellar ataxia: new cases indicate a distinct but heterogeneous entity. J Neurol Neurosurg Psychiatry 2006 0.80
37 Current and future medical treatment in primary dystonia. Ther Adv Neurol Disord 2012 0.79
38 The effectiveness of allied health care in patients with ataxia: a systematic review. J Neurol 2013 0.79
39 Ataxia telangiectasia: the consequences of a delayed diagnosis. Radiother Oncol 2011 0.79
40 PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype. Mov Disord 2007 0.78
41 Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes. J Neurol 2009 0.77
42 Physiotherapy in degenerative cerebellar ataxias: utilisation, patient satisfaction, and professional expertise. Cerebellum 2013 0.77
43 A distinctive pattern of cortical excitability in patients with the syndrome of dystonia and cerebellar ataxia. Clin Neurophysiol 2011 0.77
44 Alexander disease causing hereditary late-onset ataxia with only minimal white matter changes: A report of two sibs. Mov Disord 2008 0.76
45 A de novo SCA14 mutation in an isolated case of late-onset cerebellar ataxia. Mov Disord 2013 0.76
46 Pisa syndrome after unilateral pallidotomy in Parkinson's disease: an unrecognised, delayed adverse event? J Neurol Neurosurg Psychiatry 2007 0.76
47 Spinocerebellar ataxia type 14: opening a new door in dominant ataxia research? Neurology 2005 0.75
48 Language impairment in cerebellar ataxia. Mov Disord 2014 0.75
49 There might be more to SPG4! J Neurol Neurosurg Psychiatry 2009 0.75
50 Republished: A practical approach to late-onset cerebellar ataxia: putting the disorder with lack of order into order. Postgrad Med J 2012 0.75
51 [Severe, subacute axonal polyneuropathy due to hypophosphatemia]. Ned Tijdschr Geneeskd 2010 0.75
52 Neurophysiologic studies in early-onset cerebellar ataxia. J Clin Neurophysiol 2006 0.75
53 Cognitive impairment in SCA-19. Acta Neurol Belg 2003 0.75
54 Cervical dystonia after ear surgery. Parkinsonism Relat Disord 2011 0.75
55 Does calf muscle spasticity contribute to postural imbalance? A study in persons with pure hereditary spastic paraparesis. Gait Posture 2013 0.75
56 Phenotypic variability in a dystonia family with mutations in the manganese transporter gene. Mov Disord 2013 0.75
57 Functional effects of botulinum toxin type-A treatment and subsequent stretching of spastic calf muscles: a study in patients with hereditary spastic paraplegia. J Rehabil Med 2015 0.75