PubRank

Ludger Schöls

Author PubWeight™ 118.79‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Variant in the sequence of the LINGO1 gene confers risk of essential tremor. Nat Genet 2009 2.29
2 Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data. Lancet Neurol 2013 2.24
3 Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol 2009 2.09
4 REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain 2008 1.77
5 Kick and rush: paradoxical kinesia in Parkinson disease. Neurology 2008 1.59
6 Cholestenoic acids regulate motor neuron survival via liver X receptors. J Clin Invest 2014 1.55
7 Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients. Mov Disord 2005 1.54
8 A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. Hum Mutat 2013 1.53
9 PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain 2013 1.51
10 Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis. J Lipid Res 2009 1.50
11 Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor. Neurology 2012 1.41
12 Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. Am J Hum Genet 2013 1.41
13 Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7. Prog Neurobiol 2013 1.40
14 Genetics of hereditary spastic paraplegias. Semin Neurol 2012 1.36
15 Mitochondrial impairment in patients and asymptomatic mutation carriers of Huntington's disease. Mov Disord 2005 1.33
16 Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity. Hum Mol Genet 2008 1.33
17 Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. J Clin Invest 2012 1.32
18 SCA3: neurological features, pathogenesis and animal models. Cerebellum 2008 1.31
19 Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6. Neuroimage 2009 1.29
20 Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 2003 1.29
21 The impact of catechol-O-methyltransferase and dopamine D4 receptor genotypes on neurophysiological markers of performance monitoring. J Neurosci 2007 1.26
22 Dissecting the role of the mitochondrial chaperone mortalin in Parkinson's disease: functional impact of disease-related variants on mitochondrial homeostasis. Hum Mol Genet 2010 1.22
23 Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). Hum Mutat 2004 1.22
24 Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease. Hum Mol Genet 2003 1.22
25 Long-term effects of coordinative training in degenerative cerebellar disease. Mov Disord 2010 1.16
26 Depression comorbidity in spinocerebellar ataxia. Mov Disord 2011 1.15
27 The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain 2013 1.14
28 Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. Orphanet J Rare Dis 2013 1.13
29 Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54). Eur J Hum Genet 2013 1.09
30 Axonal transport deficit in a KIF5A( -/- ) mouse model. Neurogenetics 2012 1.06
31 The effects of COMT (Val108/158Met) and DRD4 (SNP -521) dopamine genotypes on brain activations related to valence and magnitude of rewards. Cereb Cortex 2009 1.05
32 Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model. PLoS Genet 2012 1.05
33 De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). Neurology 2013 1.05
34 Comparison of three clinical rating scales in Friedreich ataxia (FRDA). Mov Disord 2009 1.04
35 Protein surveillance machinery in brains with spinocerebellar ataxia type 3: redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusions. Ann Neurol 2002 1.04
36 Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. J Neurol Sci 2007 1.04
37 Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations. Neurology 2009 1.04
38 First appraisal of brain pathology owing to A30P mutant alpha-synuclein. Ann Neurol 2010 1.03
39 Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype. Neurobiol Aging 2012 1.02
40 Loss of nocturnal blood pressure fall in various extrapyramidal syndromes. Mov Disord 2009 1.02
41 Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6. Brain 2013 1.00
42 Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . Neurogenetics 2012 0.99
43 Cardiomyopathy in Friedreich's ataxia-assessment by cardiac MRI. Mov Disord 2007 0.99
44 Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias. Mov Disord 2004 0.99
45 Falls in spinocerebellar ataxias: Results of the EuroSCA Fall Study. Cerebellum 2010 0.98
46 Video game-based coordinative training improves ataxia in children with degenerative ataxia. Neurology 2012 0.98
47 Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation. J Med Genet 2011 0.97
48 PRRT2-related disorders: further PKD and ICCA cases and review of the literature. J Neurol 2013 0.97
49 Genetic variability in the dopamine system (dopamine receptor D4, catechol-O-methyltransferase) modulates neurophysiological responses to gains and losses. Biol Psychiatry 2009 0.97
50 Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. Clin Genet 2011 0.97
51 Characterizing POLG ataxia: clinics, electrophysiology and imaging. Cerebellum 2012 0.94
52 Chorein-sensitive polymerization of cortical actin and suicidal cell death in chorea-acanthocytosis. FASEB J 2012 0.93
53 Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findings. Cerebellum 2012 0.93
54 X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation. Orphanet J Rare Dis 2014 0.93
55 The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 2010 0.92
56 Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype. J Neurol Neurosurg Psychiatry 2013 0.92
57 Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy. Neurology 2013 0.91
58 Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots. J Neurol Sci 2008 0.91
59 Prevalence of THAP1 sequence variants in German patients with primary dystonia. Mov Disord 2010 0.91
60 Spinocerebellar ataxia type 3 (SCA3): thalamic neurodegeneration occurs independently from thalamic ataxin-3 immunopositive neuronal intranuclear inclusions. Brain Pathol 2006 0.91
61 Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. J Neurol Neurosurg Psychiatry 2010 0.90
62 Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia. Neurogenetics 2008 0.90
63 Spectrin mutations in spinocerebellar ataxia (SCA). Bioessays 2006 0.90
64 Sustained dopaminergic response of parkinsonism and depression in POLG-associated parkinsonism. Mov Disord 2010 0.89
65 Kick and rush: paradoxical kinesia in Parkinson disease. Neurology 2009 0.89
66 Polymorphisms in the interleukin-1 alpha and beta genes and the risk for Parkinson's disease. Neurosci Lett 2002 0.88
67 ADHD candidate gene (DRD4 exon III) affects inhibitory control in a healthy sample. BMC Neurosci 2009 0.88
68 Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts. Orphanet J Rare Dis 2014 0.88
69 Complex hyperkinetic movement disorders associated with POLG mutations. Mov Disord 2010 0.87
70 Side chain-oxidized oxysterols regulate the brain renin-angiotensin system through a liver X receptor-dependent mechanism. J Biol Chem 2011 0.87
71 Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). J Neurol 2014 0.87
72 Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause. Mov Disord 2006 0.87
73 Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2). Neurogenetics 2008 0.87
74 Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS. Hum Mol Genet 2012 0.87
75 Retinal nerve fiber layer loss in multiple system atrophy. Mov Disord 2011 0.87
76 Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features. J Med Genet 2011 0.86
77 Dissociation of grey and white matter reduction in spinocerebellar ataxia type 3 and 6: a voxel-based morphometry study. Neurosci Lett 2006 0.86
78 Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia. Arch Neurol 2003 0.86
79 Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP). Orphanet J Rare Dis 2013 0.84
80 Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults. Brain Dev 2009 0.84
81 Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. Acta Neuropathol 2014 0.84
82 New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. Ann Neurol 2005 0.84
83 Baroreflex sensitivity and power spectral analysis during autonomic testing in different extrapyramidal syndromes. Mov Disord 2010 0.84
84 Consistent affection of the central somatosensory system in spinocerebellar ataxia type 2 and type 3 and its significance for clinical symptoms and rehabilitative therapy. Brain Res Rev 2006 0.83
85 Atypical juvenile parkinsonism in a consanguineous SPG15 family. Mov Disord 2011 0.83
86 Self-rated health status in spinocerebellar ataxia--results from a European multicenter study. Mov Disord 2010 0.83
87 Neurophysiological markers of novelty processing are modulated by COMT and DRD4 genotypes. Neuroimage 2010 0.82
88 A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42). Eur J Hum Genet 2010 0.82
89 A Potential Role for a Genetic Variation of AKAP5 in Human Aggression and Anger Control. Front Hum Neurosci 2011 0.82
90 Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization. Neurogenetics 2008 0.81
91 Safety and tolerability of carbamylated erythropoietin in Friedreich's ataxia. Mov Disord 2014 0.81
92 Chorein sensitivity of cytoskeletal organization and degranulation of platelets. FASEB J 2013 0.81
93 Retinal nerve fibre layer loss in hereditary spastic paraplegias is restricted to complex phenotypes. BMC Neurol 2012 0.80
94 Mutation analysis of the neurofilament M gene in Parkinson's disease. Neurosci Lett 2003 0.80
95 A randomized, placebo-controlled trial of AFQ056 for the treatment of chorea in Huntington's disease. Mov Disord 2015 0.80
96 POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe. Mov Disord 2010 0.80
97 Motor cortex activation by transcranial magnetic stimulation in ataxia patients depends on the genetic defect. Brain 2002 0.80
98 Friedreich ataxia: dysarthria profile and clinical data. Cerebellum 2013 0.80
99 Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach. Eur J Hum Genet 2006 0.79
100 Increased [11C]PIB-PET levels in inclusion body myositis are indicative of amyloid beta deposition. J Neurol Neurosurg Psychiatry 2010 0.79
101 The effectiveness of allied health care in patients with ataxia: a systematic review. J Neurol 2013 0.79
102 PET and MRI reveal early evidence of neurodegeneration in spinocerebellar ataxia type 17. J Nucl Med 2012 0.79
103 Hepatic mitochondrial dysfunction in Friedreich ataxia. BMC Neurol 2011 0.78
104 Spinal cord atrophy in spinocerebellar ataxia type 3 and 6 : impact on clinical disability. J Neurol 2008 0.78
105 Severe orthostatic dysregulation associated with Wolfram syndrome. J Neurol 2010 0.78
106 Sulphatation does not appear to be a protective mechanism to prevent oxysterol accumulation in humans and mice. PLoS One 2013 0.77
107 Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations. J Neurol 2015 0.77
108 Videogame-based coordinative training can improve advanced, multisystemic early-onset ataxia. J Neurol 2013 0.77
109 Data protection in biomaterial banks for Parkinson's disease research: the model of GEPARD (Gene Bank Parkinson's Disease Germany). Mov Disord 2007 0.77
110 Decreased retinal sensitivity and loss of retinal nerve fibers in multiple system atrophy. Graefes Arch Clin Exp Ophthalmol 2012 0.77
111 PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. Hum Mol Genet 2013 0.77
112 Chorein Sensitive Arrangement of Cytoskeletal Architecture. Cell Physiol Biochem 2015 0.76
113 A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes. Neurogenetics 2012 0.76
114 Teaching NeuroImages: MRI guides genetics: leukoencephalopathy with brainstem and spinal cord involvement (LBSL). Neurology 2013 0.76
115 Restless legs and substantia nigra hypoechogenicity are common features in Friedreich's ataxia. Cerebellum 2011 0.76
116 Transcranial sonography reveals cerebellar, nigral, and forebrain abnormalities in Friedreich's ataxia. Neurodegener Dis 2011 0.76
117 Pupil diameter in darkness differentiates progressive supranuclear palsy (PSP) from other extrapyramidal syndromes. Mov Disord 2007 0.76
118 Autonomic dysfunction in different subtypes of multiple system atrophy. Mov Disord 2008 0.76
119 CAG repeats in Restless Legs syndrome. Am J Med Genet B Neuropsychiatr Genet 2006 0.75
120 Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion. Amyotroph Lateral Scler Frontotemporal Degener 2013 0.75
121 Comparing speech characteristics in spinocerebellar ataxias type 3 and type 6 with Friedreich ataxia. J Neurol 2014 0.75
122 D90A-SOD1 ALS mimicking monoclonal gammopathy-associated ALS. Amyotroph Lateral Scler 2012 0.75
123 Leukodystrophies in idiopathic adult-onset ataxia: frequency and phenotype in 105 patients. Mov Disord 2013 0.75
124 Charcot-Marie-Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation. Eur J Neurol 2012 0.75
125 Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report. J Med Case Rep 2014 0.75
126 Brain-computer interfacing in amyotrophic lateral sclerosis: Implications of a resting-state EEG analysis. Conf Proc IEEE Eng Med Biol Soc 2015 0.75
127 Neurofilament L gene is not a genetic factor of sporadic and familial Parkinson's disease. Brain Res 2002 0.75
128 POLG and PEO1 (Twinkle) mutations are infrequent in PSP-like atypical parkinsonism: a preliminary screening study. J Neurol 2012 0.75
129 Mutation at the SCA17 locus is not a common cause of primary dystonia. J Neurol 2004 0.75
130 Late onset vanishing white matter disease. J Neurol 2007 0.75