Genomes and Genes
J E Nielsen
Affiliation: University of Copenhagen
- Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic studyJ E Nielsen
Institute of Medical Biochemistry and Genetics, Laboratory of Medical Genetics, University of Copenhagen, Denmark
J Neurol Neurosurg Psychiatry 64:61-6. 1998..In this study the clinical, genetic, neurophysiological, and MRI characteristics of ADPSP were investigated...
- Psychiatric and cognitive symptoms in Huntington's disease are modified by polymorphisms in catecholamine regulating enzyme genesT Vinther-Jensen
Neurogenetics Clinic, Danish Dementia Research Centre, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Clin Genet 89:320-7. 2016..3 B haplotype. These results support the theory of dopamine imbalance in HD, and point toward more personalized treatment modalities of HD in the future. ..
- Dentatorubral-pallidoluysian atrophy. Clinical features of a five-generation Danish familyJ E Nielsen
Laboratory of Medical Genetics, University of Copenhagen, Denmark
Mov Disord 11:533-41. 1996....
- Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutationJ E Nielsen
Department of Medical Genetics, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark
Eur J Neurol 11:817-24. 2004..We conclude that this kindred demonstrates a considerable overlap between cerebellar ataxia and spastic paraplegia, emphasizing the marked clinical heterogeneity of HSP associated with spastin mutations...
- Increased intracortical facilitation in patients with autosomal dominant pure spastic paraplegia linked to chromosome 2pJ E Nielsen
Department of Medical Genetics, Institute of Medical Biochemistry and Genetics, Section of Neurogenetics, University of Copenhagen, The Panum Institute, DK 2200 Copenhagen N, Denmark
Eur J Neurol 8:335-9. 2001....
- 4p16.3 haplotype modifying age at onset of Huntington diseaseA Nørremølle
Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark
Clin Genet 75:244-50. 2009....
- Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)H Eiberg
Department of Cellular and Molecular Medicine, Faculty of Health, University of Copenhagen, Copenhagen, Denmark
Clin Genet 82:256-63. 2012....
- NIPA1 mutation in complex hereditary spastic paraplegia with epilepsyK Svenstrup
Section of Neurogenetics, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark
Eur J Neurol 18:1197-9. 2011..2 including NIPA1 have been identified in patients with IGE. The purpose was to identify NIPA1 mutations in patients with pure and complex HSP...
- Ubiquitin: a potential cerebrospinal fluid progression marker in Huntington's diseaseT Vinther-Jensen
Department of Neurology, Danish Dementia Research Centre, Neurogenetics Clinic, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Eur J Neurol 22:1378-84. 2015..This would benefit the future evaluation of potential neuroprotective and disease-modifying therapies, as well as aid in identifying an optimal time point for initiating a potential therapeutic intervention...
- Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohortT T Nielsen
1 Danish Dementia Research Centre, Neurogenetics Clinic, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark 2 Department of Cellular and Molecular Medicine, Section of Neurogenetics, The Panum Institute, University of Copenhagen, Copenhagen, Denmark
Spinal Cord 52:77-9. 2014....
- Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutationS G Lindquist
Memory Disorders Research Group, The Neuroscience Centre, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
Eur J Neurol 15:377-85. 2008..The clinical and genetic heterogeneity of autosomal dominant inherited dementia must be taken into account in the genetic counselling and genetic testing of families with autosomal dominantly inherited dementia in general...
- No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutationsL E Hjermind
Department of Medical Genetics, University of Copenhagen, Copenhagen, Denmark
Eur J Neurol 15:525-9. 2008..This suggests a different role of the sarcoglycan complex epsilonbetagammadelta versus alphabetagammadelta complex in humans, as earlier suggested in rodents...
- Frontotemporal dementia linked to chromosome 3 (FTD-3)--current concepts and the detection of a previously unknown branch of the Danish FTD-3 familyS G Lindquist
Memory Disorders Research Group, Department of Neurology, Copenhagen University Hospital, Rigshospitalet, Denmark
Eur J Neurol 15:667-70. 2008..Recent advances in understanding the heterogeneous genetic background for different clinical and neuropathological entities of FTD have involved identification of several new causative genes...
- Identification of genes differentially expressed in testes containing carcinoma in situC E Hoei-Hansen
University Department of Growth and Reproduction, Rigshospitalet, Section GR 5064, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
Mol Hum Reprod 10:423-31. 2004..g. DCN, IGFBP6, SFRP1, SALL1), supporting our hypothesis that the origin of CIS is probably associated with disturbances of the fetal development of the testis...
- Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesiaM K Bruno
Department of Neurology, University of California, San Francisco, CA 94158, USA
Neurology 68:1782-9. 2007..Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare disorder characterized by episodic hyperkinetic movement attacks. We have recently identified mutations in the MR-1 gene causing familial PNKD...
- Stem cell pluripotency factor NANOG is expressed in human fetal gonocytes, testicular carcinoma in situ and germ cell tumoursC E Hoei-Hansen
University Department of Growth and Reproduction and Department of Pathology, Rigshospitalet, Copenhagen, Denmark
Histopathology 47:48-56. 2005..In the present study we analysed the protein expression of NANOG during normal development of human testis and in a large series of neoplastic/dysgenetic specimens...
- MEP recruitment curves in multiple sclerosis and hereditary spastic paraplegiaL M Jørgensen
Department of Neurophysiology, Rigshospitalet, Denmark
J Neurol Sci 237:25-9. 2005..Multiple sclerosis (MS) represents both demyelination and axonal degeneration. Hereditary Spastic Paraplegia (HSP) was included as a model of pure axonal loss...
- Genome-wide gene expression profiling of testicular carcinoma in situ progression into overt tumoursK Almstrup
University Department of Growth and Reproduction, Rigshospitalet, Section GR 5064, Blegdamsvej 9, Copenhagen DK 2100, Denmark
Br J Cancer 92:1934-41. 2005....
- Reciprocal inhibition and corticospinal transmission in the arm and leg in patients with autosomal dominant pure spastic paraparesis (ADPSP)C Crone
Department of Clinical Neurophysiology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
Brain 127:2693-702. 2004....
- Double-blind crossover trial of gabapentin in SPG4-linked hereditary spastic paraplegiaK H Scheuer
Department of Neurology, Hillerød Hospital, Denmark
Eur J Neurol 14:663-6. 2007..There was no difference between periods with gabapentin and placebo treatment in clinical assessment, self-reported parameters or paired transcranial magnetic stimulation evaluation of motor cortical excitability...