PubRank

L Schöls

Author PubWeight™ 98.79‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. Nat Genet 1998 12.92
2 Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 2006 6.44
3 Intensive coordinative training improves motor performance in degenerative cerebellar disease. Neurology 2009 2.33
4 The natural history of degenerative ataxia: a retrospective study in 466 patients. Brain 1998 2.11
5 High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. Neurology 2006 2.09
6 The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study. Neurology 2011 2.06
7 Oxidative stress in patients with Friedreich ataxia. Neurology 2000 2.03
8 Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain 2009 1.91
9 Prevalence of antigliadin antibodies in ataxia patients. Neurology 2003 1.89
10 Increased susceptibility to sporadic Parkinson's disease by a certain combined alpha-synuclein/apolipoprotein E genotype. Ann Neurol 1999 1.74
11 Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. Neurology 2011 1.58
12 The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity. Neurology 2006 1.54
13 Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms. Neurology 2008 1.53
14 Double-blind crossover trial of trimethoprim-sulfamethoxazole in spinocerebellar ataxia type 3/Machado-Joseph disease. Arch Neurol 2001 1.42
15 Spinocerebellar ataxia type 6: evidence for a strong founder effect among German families. Neurology 1999 1.39
16 Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. Hum Mutat 2002 1.38
17 The aetiology of sporadic adult-onset ataxia. Brain 2002 1.34
18 Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry 2009 1.26
19 Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene. Hum Genet 1997 1.22
20 An isoform of ataxin-3 accumulates in the nucleus of neuronal cells in affected brain regions of SCA3 patients. Brain Pathol 1998 1.17
21 Responsiveness of different rating instruments in spinocerebellar ataxia patients. Neurology 2010 1.15
22 Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers. Neurology 2001 1.09
23 SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene. Hum Mol Genet 1997 1.04
24 Motor fibers in the sural nerve of humans. Neurology 1997 1.03
25 SPG10 is a rare cause of spastic paraplegia in European families. J Neurol Neurosurg Psychiatry 2008 1.02
26 Prospective analysis of falls in dominant ataxias. Eur Neurol 2012 1.00
27 SCA Functional Index: a useful compound performance measure for spinocerebellar ataxia. Neurology 2008 1.00
28 Mutation analysis and association studies of the UCHL1 gene in German Parkinson's disease patients. Neuroreport 2000 0.98
29 Mitochondrial impairment of human muscle in Friedreich ataxia in vivo. Neuromuscul Disord 2000 0.97
30 EFNS guidelines on the molecular diagnosis of mitochondrial disorders. Eur J Neurol 2009 0.97
31 Genetic analysis of immunomodulating factors in sporadic Parkinson's disease. J Neural Transm (Vienna) 2000 0.95
32 Consensus paper: management of degenerative cerebellar disorders. Cerebellum 2014 0.95
33 Quantitative assessment of brain stem and cerebellar atrophy in spinocerebellar ataxia types 3 and 6: impact on clinical status. AJNR Am J Neuroradiol 2011 0.93
34 EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders. Eur J Neurol 2011 0.93
35 Polymorphisms of the alpha-synuclein promoter: expression analyses and association studies in Parkinson's disease. J Neural Transm (Vienna) 2003 0.92
36 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. Eur J Neurol 2009 0.91
37 Baroreflex sensitivity and power spectral analysis in different extrapyramidal syndromes. J Neural Transm (Vienna) 2008 0.90
38 EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias. Eur J Neurol 2009 0.90
39 Neurophysiological findings in SPG4 patients differ from other types of spastic paraplegia. Neurology 2003 0.90
40 Prion mutation D178N with highly variable disease onset and phenotype. J Neurol Neurosurg Psychiatry 2009 0.89
41 Degeneration of ingestion-related brainstem nuclei in spinocerebellar ataxia type 2, 3, 6 and 7. Neuropathol Appl Neurobiol 2006 0.89
42 Spinocerebellar ataxia type 1 (SCA1): new pathoanatomical and clinico-pathological insights. Neuropathol Appl Neurobiol 2012 0.88
43 Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD). J Neurol Neurosurg Psychiatry 1999 0.88
44 Pathoanatomy of cerebellar degeneration in spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3). Cerebellum 2012 0.88
45 SCA2 trinucleotide expansion in German SCA patients. Neurogenetics 1997 0.87
46 Polymorphisms in the PMP-22 gene region (17p11.2-12) are crucial for simplified diagnosis of duplications/deletions. Hum Genet 1997 0.87
47 L-2 hydroxyglutaric aciduria as a rare cause of leukencephalopathy in adults. Clin Neurol Neurosurg 2012 0.86
48 Heterozygous expansion of the GAA tract of the X25/frataxin gene is associated with insulin resistance in humans. Diabetes 2000 0.86
49 The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia. J Mol Med (Berl) 2001 0.86
50 Transmission distortion of the mutant alleles in spinocerebellar ataxia. Hum Genet 1997 0.84
51 Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24. Neurology 2009 0.84
52 Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany. J Neurol Neurosurg Psychiatry 1995 0.84
53 Valsalva manoeuvre in patients with different Parkinsonian disorders. J Neural Transm (Vienna) 2009 0.83
54 Association of moderate polyglutamine tract expansions in the slow calcium-activated potassium channel type 3 with ataxia. Arch Neurol 2001 0.83
55 Involvement of the cranial nerves and their nuclei in spinocerebellar ataxia type 2 (SCA2). Acta Neuropathol 2005 0.82
56 Mutations in the PDYN gene (SCA23) are not a frequent cause of dominant ataxia in Central Europe. Clin Genet 2011 0.82
57 The dopamine D2 receptor (DRD2) gene-a genetic risk factor in heavy smoking? Addict Biol 2000 0.81
58 Mutation analysis and association studies of nuclear factor-kappaB1 in sporadic Parkinson's disease patients. J Neural Transm (Vienna) 2002 0.81
59 Spinocerebellar ataxia type 6 (SCA6): neurodegeneration goes beyond the known brain predilection sites. Neuropathol Appl Neurobiol 2009 0.81
60 Effective thalamic deep brain stimulation for neuropathic tremor in a patient with severe demyelinating neuropathy. J Neurol Neurosurg Psychiatry 2009 0.81
61 Disease severity affects quality of life of hereditary spastic paraplegia patients. Eur J Neurol 2011 0.81
62 Spinocerebellar ataxias types 2 and 3: degeneration of the pre-cerebellar nuclei isolates the three phylogenetically defined regions of the cerebellum. J Neural Transm (Vienna) 2005 0.81
63 Transcranial sonography in spinocerebellar ataxia type 3. J Neural Transm Suppl 2004 0.81
64 The cold hand sign in multiple system atrophy: skin perfusion revisited. J Neural Transm (Vienna) 2010 0.80
65 Damage to the reticulotegmental nucleus of the pons in spinocerebellar ataxia type 1, 2, and 3. Neurology 2004 0.80
66 Vertebral body infarction indicating midthoracic spinal stroke. Spinal Cord 2002 0.80
67 Involvement of the auditory brainstem system in spinocerebellar ataxia type 2 (SCA2), type 3 (SCA3) and type 7 (SCA7). Neuropathol Appl Neurobiol 2008 0.79
68 Spinocerebellar ataxia type 7 (SCA7): widespread brain damage in an adult-onset patient with progressive visual impairments in comparison with an adult-onset patient without visual impairments. Neuropathol Appl Neurobiol 2007 0.79
69 Is the sural nerve a pure sensory nerve? Muscle Nerve 2000 0.79
70 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. Eur J Neurol 2010 0.79
71 Evaluation of the gamma-synuclein gene in German Parkinson's disease patients. Neurosci Lett 2001 0.78
72 Spinocerebellar ataxia type 7 (SCA7): first report of a systematic neuropathological study of the brain of a patient with a very short expanded CAG-repeat. Brain Pathol 2005 0.78
73 Head tremor due to bilateral thalamic and midbrain infarction. J Neurol 1995 0.78
74 Primary central nervous system vasculitis in a child mimicking parasitosis. J Neurol 2008 0.78
75 Unaltered respiratory chain enzyme activity and mitochondrial DNA in skeletal muscle from patients with idiopathic Parkinson's syndrome. Eur Neurol 1994 0.77
76 Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients. Eur J Neurol 2014 0.77
77 Analysis of the parkin deletion in sporadic and familial Parkinson's disease. Short communication. J Neural Transm (Vienna) 1999 0.77
78 Inventory of Non-Ataxia Signs (INAS): validation of a new clinical assessment instrument. Cerebellum 2013 0.76
79 Fact and fallacy in clinical and electrophysiological studies of anomalous innervation of the intrinsic foot muscles. Muscle Nerve 1996 0.76
80 Extended pathoanatomical studies point to a consistent affection of the thalamus in spinocerebellar ataxia type 2. Neuropathol Appl Neurobiol 2005 0.76
81 Modulation of disease risk according to a cathepsin D / apolipoprotein E genotype in Parkinson's disease. J Neural Transm (Vienna) 2003 0.75
82 Reversible urinary retention as the main symptom in the first manifestation of a syringomyelia. J Neurol Neurosurg Psychiatry 1996 0.75
83 Apomorphine--test in dystonia. J Neural Transm Park Dis Dement Sect 1991 0.75
84 Collision technique in Martin-Gruber anastomosis. Muscle Nerve 1998 0.75
85 Regular insulin secretory oscillations despite impaired ATP synthesis in Friedreich Ataxia patients. Horm Metab Res 2006 0.75
86 [Drug-induced rhabdomyolysis and lesions of peripheral nerves. Sequelae of local ischemia within the scope of circulatory collapse?]. Nervenarzt 1996 0.75
87 Repeat length and disease progression in spinocerebellar ataxia type 3. Lancet 1996 0.75
88 [Rare differential diagnosis of primary adrenal insufficiency: case 6/2011]. Dtsch Med Wochenschr 2011 0.75
89 Genetic analysis of the alpha2-macroglobulin gene in early- and late-onset Parkinson's disease. Neuroreport 2000 0.75
90 Continuous subcutaneous lisuride infusion in OPCA. J Neural Transm Gen Sect 1992 0.75
91 [Cardiomyopathy in Friedreich's ataxia]. Dtsch Med Wochenschr 1992 0.75