Gregor Kuhlenbäumer

Summary

Country: Germany

Publications

  1. ncbi request reprint Association between single nucleotide polymorphisms in the lysyl oxidase-like 1 gene and spontaneous cervical artery dissection
    G Kuhlenbaumer
    Leibniz Institute of Atherosclerosis Research, University of Munster, Munster, Germany
    Cerebrovasc Dis 24:343-8. 2007
  2. ncbi request reprint [Spontaneous dissection of brain providing neck artery]
    G Kuhlenbaumer
    Klinik und Poliklinik fur Neurologie, Westfalische Wilhelms Universitat Munster
    Fortschr Neurol Psychiatr 72:282-91; quiz 292-3. 2004
  3. ncbi request reprint Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14
    G Kuhlenbaumer
    Department of Neurology, University of Munster, Germany
    Neurology 62:2203-8. 2004
  4. ncbi request reprint Clinical features and molecular genetics of hereditary peripheral neuropathies
    Gregor Kuhlenbäumer
    Department of Neurology, University of Munster, Albert Schweitzer Str 33, 48129 Munster, Germany
    J Neurol 249:1629-50. 2002
  5. ncbi request reprint Mutations in SEPT9 cause hereditary neuralgic amyotrophy
    Gregor Kuhlenbäumer
    Department of Neurology, University of Munster, Domagkstr 3, D 48149 Munster, Germany
    Nat Genet 37:1044-6. 2005
  6. ncbi request reprint Thirty-seven CAG repeats in the androgen receptor gene in two healthy individuals
    G Kuhlenbaumer
    Klinik und Poliklinik für Neurologie Westfälische Wilhelms Universität Münster, Germany
    J Neurol 248:23-6. 2001
  7. pmc Evaluation of single nucleotide polymorphisms in the phosphodiesterase 4D gene (PDE4D) and their association with ischaemic stroke in a large German cohort
    G Kuhlenbaumer
    Department of Neurology and Leibniz Institute for Atherosclerosis Research, University of Munster, Albert Schweitzer Str 33, 48129, Munster, Germany
    J Neurol Neurosurg Psychiatry 77:521-4. 2006
  8. doi request reprint LINGO1 is not associated with Parkinson's disease in German patients
    Stephan Klebe
    Department of Neurology, University Hospital Schleswig Holstein, Campus Kiel, Arnold Heller Strasse 3, Kiel, Germany
    Am J Med Genet B Neuropsychiatr Genet 153:1173-8. 2010
  9. ncbi request reprint Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy
    Gert Hünermund
    Department of Neurology, University of Munster, Albert Schweitzer Strasse 33, 48129 Munster, Germany
    Muscle Nerve 29:601-4. 2004
  10. ncbi request reprint Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN)
    Olga Koop
    Department of Neurology, University of Munster, Albert Schweitzer Strasse 33, D 48129 Munster, Germany
    Neuromuscul Disord 17:624-30. 2007

Detail Information

Publications42

  1. ncbi request reprint Association between single nucleotide polymorphisms in the lysyl oxidase-like 1 gene and spontaneous cervical artery dissection
    G Kuhlenbaumer
    Leibniz Institute of Atherosclerosis Research, University of Munster, Munster, Germany
    Cerebrovasc Dis 24:343-8. 2007
    ..LOXL1 an excellent candidate susceptibility gene for non-familial sCAD was investigated by mutation analysis and a genetic association study...
  2. ncbi request reprint [Spontaneous dissection of brain providing neck artery]
    G Kuhlenbaumer
    Klinik und Poliklinik fur Neurologie, Westfalische Wilhelms Universitat Munster
    Fortschr Neurol Psychiatr 72:282-91; quiz 292-3. 2004
  3. ncbi request reprint Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14
    G Kuhlenbaumer
    Department of Neurology, University of Munster, Germany
    Neurology 62:2203-8. 2004
    ..To describe the clinical and neuroradiologic features and chromosomal mapping of a novel autosomal dominant disease affecting the basal ganglia...
  4. ncbi request reprint Clinical features and molecular genetics of hereditary peripheral neuropathies
    Gregor Kuhlenbäumer
    Department of Neurology, University of Munster, Albert Schweitzer Str 33, 48129 Munster, Germany
    J Neurol 249:1629-50. 2002
    ..It is aimed primarily at clinicians and geneticists. Therefore less emphasis is placed on the pathology and the (often unknown) underlying biological disease mechanisms...
  5. ncbi request reprint Mutations in SEPT9 cause hereditary neuralgic amyotrophy
    Gregor Kuhlenbäumer
    Department of Neurology, University of Munster, Domagkstr 3, D 48149 Munster, Germany
    Nat Genet 37:1044-6. 2005
    ..HNA is the first monogenetic disease caused by mutations in a gene of the septin family. Septins are implicated in formation of the cytoskeleton, cell division and tumorigenesis...
  6. ncbi request reprint Thirty-seven CAG repeats in the androgen receptor gene in two healthy individuals
    G Kuhlenbaumer
    Klinik und Poliklinik für Neurologie Westfälische Wilhelms Universität Münster, Germany
    J Neurol 248:23-6. 2001
    ..Interestingly, his 85-year-old mother who has the genotype 37/51 CAG repeats is clinically unaffected as well. These results suggest an exactly defined border between normal and disease alleles...
  7. pmc Evaluation of single nucleotide polymorphisms in the phosphodiesterase 4D gene (PDE4D) and their association with ischaemic stroke in a large German cohort
    G Kuhlenbaumer
    Department of Neurology and Leibniz Institute for Atherosclerosis Research, University of Munster, Albert Schweitzer Str 33, 48129, Munster, Germany
    J Neurol Neurosurg Psychiatry 77:521-4. 2006
    ..In conclusion, this study was unable to demonstrate an association between the six SNPs which had showed significant single marker association with stroke in the Icelandic stroke cohort and ischaemic stroke in a large German cohort...
  8. doi request reprint LINGO1 is not associated with Parkinson's disease in German patients
    Stephan Klebe
    Department of Neurology, University Hospital Schleswig Holstein, Campus Kiel, Arnold Heller Strasse 3, Kiel, Germany
    Am J Med Genet B Neuropsychiatr Genet 153:1173-8. 2010
    ..SNPs in the LINGO1 gene associated with ET could not be shown to be associated with PD in our study population, despite a postulated overlap between both diseases...
  9. ncbi request reprint Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy
    Gert Hünermund
    Department of Neurology, University of Munster, Albert Schweitzer Strasse 33, 48129 Munster, Germany
    Muscle Nerve 29:601-4. 2004
    ..However, we identified several sequencing errors in the cDNA of SPHK1 as well as seven novel single-nucleotide polymorphisms...
  10. ncbi request reprint Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN)
    Olga Koop
    Department of Neurology, University of Munster, Albert Schweitzer Strasse 33, D 48129 Munster, Germany
    Neuromuscul Disord 17:624-30. 2007
    ..It was shown for a number of gigaxonin mutations that they impede this process leading to accumulation of microtubule associated proteins and there by impairing cellular functions...
  11. ncbi request reprint Norepinephrine transporter (NET) promoter and 5'-UTR polymorphisms: association analysis in panic disorder
    Yoo J Lee
    Department of Psychiatry, University of Munster, Albert Schweitzer Str 11, D 48149 Munster, Germany
    Neurosci Lett 377:40-3. 2005
    ..05; T/C (rs2242446): p < 0.01). While our data do not support a major function of the NET gene in the development of panic disorder, it may play a role in the subgroup of panic disorder without agoraphobia...
  12. doi request reprint Functional gene variants of the serotonin-synthesizing enzyme tryptophan hydroxylase 2 in migraine
    Martin Marziniak
    Department of Neurology, University of Munster, Munster, Germany
    J Neural Transm 116:815-9. 2009
    ..Our data argue against a major influence of the TPH2 gene promoter region in migraine...
  13. doi request reprint Genetic TPH2 variants and the susceptibility for migraine: association of a TPH2 haplotype with migraine without aura
    Alexander Jung
    Department of Neurology, University Hospital of Muenster, University of Muenster, Albert Schweitzer Strasse 33, 48149 Munster, Germany
    J Neural Transm 117:1253-60. 2010
    ..Stratification by aura and triptan response did not reveal a positive association with the investigated polymorphisms. These results suggest a possible influence of genetic variation in TPH2 in the pathogenesis of migraine...
  14. ncbi request reprint Plasma homocysteine, MTHFR C677T, CBS 844ins68bp, and MTHFD1 G1958A polymorphisms in spontaneous cervical artery dissections
    Carsten Konrad
    Department of Neurology, University of Munster, Albert Schweitzer Str 11, 48149 Munster, Germany
    J Neurol 251:1242-8. 2004
    ..These data suggest that elevated homocysteine is associated with the occurrence of sCAD. The MTHFR C677T polymorphism is associated with the homocysteine level...
  15. pmc Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor
    Sandra Thier
    Department of Neurology, University Hospital Schleswig Holstein, Kiel, Germany
    Neurology 79:243-8. 2012
    ..Despite high heritability, the genetic determinants of ET are largely unknown. We performed the second genome-wide association study (GWAS) for ET to elucidate genetic risk factors of ET...
  16. ncbi request reprint Absence of mutations in the prion-protein gene in a large cohort of HMSN patients
    Olga Koop
    Department of Neurology, University of Munster, Munster, Germany
    Neuromuscul Disord 15:549-51. 2005
    ..Mutations in the coding region of the prion-protein gene were not found. We conclude that mutations in the protein coding region of the prion-protein gene are not a common cause of HMSN (95% CI 0-0.034)...
  17. ncbi request reprint Mild mechanical traumas are possible risk factors for cervical artery dissection
    R Dittrich
    Department of Neurology, University of Muenster, Muenster, Germany
    Cerebrovasc Dis 23:275-81. 2007
    ..In a case-control study, we assessed a questionnaire with 7 mild mechanical traumas as potential trigger factors for CAD, including CMT and recent infections...
  18. doi request reprint LINGO1 polymorphisms are associated with essential tremor in Europeans
    Sandra Thier
    Department of Neurology, University Hospital Schleswig Holstein, Campus Kiel, Kiel, Germany
    Mov Disord 25:717-23. 2010
    ..Our study gives further evidence that LINGO1 acts as a susceptibility gene for ET...
  19. ncbi request reprint Human nuclear transcription factor gene CREM: genomic organization, mutation screening, and association analysis in panic disorder
    K Domschke
    Department of Psychiatry, University of Munster, Munster, Germany
    Am J Med Genet B Neuropsychiatr Genet 117:70-8. 2003
    ..Functional analysis of the observed CREM P 2 promoter polymorphism as well as studies in independent panic disorder samples are necessary...
  20. doi request reprint Hereditary amyloidosis of the Finnish type in a German family: clinical and electrophysiological presentation
    Rainer J Lüttmann
    Department of Neurology, University of Munster, Munster, Germany
    Muscle Nerve 41:679-84. 2010
    ..The lips of all older patients appeared thickened. The causative G654A mutation in the gelsolin gene was found in all affected family members...
  21. ncbi request reprint Spontaneous acute dissection of the internal carotid artery: high-resolution magnetic resonance imaging at 3.0 tesla with a dedicated surface coil
    Rainald Bachmann
    Department of Clinical Radiology, University of Muenster, Muenster, Germany
    Invest Radiol 41:105-11. 2006
    ..5 T MRI. In this preliminary study, we implemented a multicontrast high-resolution noninvasive vessel wall imaging approach at 3.0 T in patients with spontaneous CAD...
  22. ncbi request reprint Painless legs and moving toes in a mother and her daughter
    Rainer Dziewas
    Department of Neurology, University Hospital Munster, Munster, Germany
    Mov Disord 18:718-22. 2003
    ..quot; The occurrence in a mother and her daughter may point to a hereditary component of this disorder...
  23. ncbi request reprint [Incidence of cerebral ischemia in patients with suspected cervical artery dissection: first results of a prospective study]
    I Nassenstein
    Leibniz Institut für Arteriosklerose Forschung, Westfalische Wilhelms Universitat Munster
    Rofo 177:1532-9. 2005
    ..Aim of this prospective study was to investigate the incidence of spontaneous cervical artery dissection (sCAD) and cerebral ischemia in patients with suspected sCAD by using a combined head-neck MR-imaging protocol...
  24. ncbi request reprint Genetic variants of the NOTCH3 gene in migraine--a mutation analysis and association study
    S Schwaag
    Department of Neurology, University of Munster, Munster, Germany
    Cephalalgia 26:158-61. 2006
    ..No mutations in exons 3 and 4 of the NOTCH3 gene were found in 97 patients with migraine. However, association analysis revealed significant association of the single nucleotide polymorphism (SNP) rs1043994 with migraine...
  25. pmc Autosomal dominant burning feet syndrome
    F Stogbauer
    Department of Neurology, University of Munster, Germany
    J Neurol Neurosurg Psychiatry 67:78-81. 1999
    ..The autosomal dominant burning feet syndrome is neither allelic to HSAN I nor to CMT 2B and thus represents a distinct genetic entity...
  26. ncbi request reprint Hereditary recurrent focal neuropathies: clinical and molecular features
    F Stogbauer
    Klinik and Poliklinik für Neurologie, Westfalische Wilhelms Universitat, Munster, Germany
    Neurology 54:546-51. 2000
    ....
  27. ncbi request reprint Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome
    F Stogbauer
    Klinik und Poliklinik fur Neurologie, Westfalische Wilhelms Universitat Munster, Germany
    Neurosci Lett 240:1-4. 1998
    ..We conclude that DSS also exists as a distinct genetic entity with autosomal recessive inheritance as originally defined by Dejerine and Sottas in 1893...
  28. ncbi request reprint Protease inhibitors in spontaneous cervical artery dissections
    Carsten Konrad
    Department of Neurology, University of Munster, Munster, Germany
    Stroke 36:9-13. 2005
    ..Here we present the first large investigation of the protease inhibitor hypothesis in patients with sCAD...
  29. doi request reprint Hereditary and non-hereditary microangiopathies in the young. An up-date
    E Bernd Ringelstein
    Department of Neurology, University of Munster, Albert Schweitzer Str 33, D 48149 Munster, Germany
    J Neurol Sci 299:81-5. 2010
    ..Some entities are well established and not unusual, whereas others have only been described in a few cases in total...
  30. ncbi request reprint Association of the functional V158M catechol-O-methyl-transferase polymorphism with panic disorder in women
    Katharina Domschke
    Department of Psychiatry, University of Munster, Germany
    Int J Neuropsychopharmacol 7:183-8. 2004
    ..Our data support a role of the 472G/A (V158M) COMT polymorphism or a nearby locus in the pathogenesis of panic disorder in women...
  31. ncbi request reprint Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene
    G Kuhlenbaumer
    Department of Neurology, University of Munster, Germany
    Neurology 58:1273-6. 2002
    ..The authors report two novel mutations confirming that GAN is caused by mutations in the gigaxonin gene and raise the question whether some mutations may cause a mild subclinical neuropathy...
  32. doi request reprint Aberrations of dermal connective tissue in patients with cervical artery dissection (sCAD)
    Phillip Uhlig
    Institut für Physiologische Chemie und Pathobiochemie, Universitatsklinikum Munster, 48129, Munster, Germany
    J Neurol 255:340-6. 2008
    ..We conclude that approximately 20% of sCAD patients show collagen fibril alterations, establishing a promising basis for further investigation of connective tissue aberrations in skin biopsies of sCAD patients...
  33. doi request reprint Arterial elongation ("redundancy") is not a feature of spontaneous cervical artery dissection
    Ralf Dittrich
    Department of Neurology, University Hospital of Muenster, Albert Schweitzer Strasse 33, 48149, Muenster, Germany
    J Neurol 258:250-4. 2011
    ..The macroscopic appearance of the cervical arteries on MR-angiograms does not suggest an underlying elongative or dilatative arteriopathy...
  34. ncbi request reprint Cervical artery dissection--clinical features, risk factors, therapy and outcome in 126 patients
    Rainer Dziewas
    Dept of Neurology, University Hospital of Munster, Albert Schweitzer Strasse 33, 48129 Munster, Germany
    J Neurol 250:1179-84. 2003
    ..Patients with dissection-related cervical artery occlusion had a significantly increased risk of suffering a disabling stroke...
  35. ncbi request reprint Polyarterial clustered recurrence of cervical artery dissection seems to be the rule
    R Dittrich
    Department of Neurology, University Hospital of Muenster, Muenster, Germany
    Neurology 69:180-6. 2007
    ..Its incidence ranges from 10 to 28%. The recurrence rate of sCAD in general over up to 8.6 years has been recorded to be 0 to 8%...
  36. ncbi request reprint Connective tissue and vascular phenotype in patients with cervical artery dissection
    R Dittrich
    Department of Neurology, University Hospital of Muenster, Muenster, Germany
    Neurology 68:2120-4. 2007
    ....
  37. ncbi request reprint Hereditary Neuralgic Amyotrophy (HNA) is genetically heterogeneous
    G Kuhlenbaumer
    Department of Neurology, Westfalische Wilhelms University, Munster, Germany
    J Neurol 248:861-5. 2001
    ..These results demonstrate that clinically homogeneous classical HNA is genetically heterogeneous...
  38. ncbi request reprint Generalized arteriopathy in patients with cervical artery dissection
    W Volker
    Institute of Atherosclerosis Research, University of Munster, Munster, Germany
    Neurology 64:1508-13. 2005
    ..To make an ultrastructural comparison of superficial temporal artery (STA) biopsy specimens from patients with spontaneous cervical artery dissection (sCAD) and controls...
  39. doi request reprint Two sets of identical twins with cervical artery dissection concordant for temporal artery pathology
    W Volker
    Leibniz Institute of Atherosclerosis Research, Munster, Germany
    Neurology 71:1035-7. 2008
  40. doi request reprint Sensitivity of neurovascular ultrasound for the detection of spontaneous cervical artery dissection
    J Nebelsieck
    Department of Neurology, University Hospital of Muenster, Albert Schweitzer Strasse 33, 48149 Muenster, Germany
    J Clin Neurosci 16:79-82. 2009
    ..However, intramural hematomas may be missed either when they are located outside the arterial segments directly visible by nUS or if they are too small to cause hemodynamically significant stenosis...
  41. ncbi request reprint Negative ultrasound findings in patients with cervical artery dissection. Negative ultrasound in CAD
    R Dittrich
    Department of Neurology, University Hospital of Munster, Albert Schweitzer Strasse 33, 48129, Munster, Germany
    J Neurol 253:424-33. 2006
    ..The aim of this retrospective study was (1) to characterize the angiological features in CAD and (2) to determine the frequency of initially normal ultrasonography (US) findings...
  42. doi request reprint Assessment of skin extensibility and joint hypermobility in patients with spontaneous cervical artery dissection and Ehlers-Danlos syndrome
    A E Heidbreder
    Leibniz Institute for Atherosclerosis Research, University of Munster, Munster, Germany
    J Clin Neurosci 15:650-3. 2008
    ..Our method is able to measure the increased skin extensibility in classical type EDS. Increased skin extensibility is not present in sCAD patients...