Jørgen Erik Nielsen
Clinical Professor
- 2024
- Published
Expanding the Spectrum of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS)
Lindskov, F. O., Karlsson, W. K., Skovbølling, S. L., Nielsen, E. N., Dunø, M., Stokholm, J., Henriksen, O. M., Langkilde, Annika Reynberg & Nielsen, Jørgen Erik, 2024, In: Cerebellum. 23, 2, p. 861-871Research output: Contribution to journal › Journal article › Research › peer-review
- E-pub ahead of print
Impairments of social cognition significantly predict the progression of functional decline in Huntington’s disease: A 6-year follow-up study
Hendel, Rebecca K., Hellem, M. N. N., Larsen, I. U., Vinther-Jensen, T., Hjermind, L. E., Nielsen, Jørgen Erik & Vogel, Asmus, 2024, (E-pub ahead of print) In: Applied Neuropsychology: Adult.Research output: Contribution to journal › Journal article › Research › peer-review
- 2023
- Published
A proteomics analysis of 5xFAD mouse brain regions reveals the lysosome-associated protein Arl8b as a candidate biomarker for Alzheimer’s disease
Boeddrich, A., Haenig, C., Neuendorf, N., Blanc, E., Ivanov, A., Kirchner, M., Schleumann, P., Bayraktaroğlu, I., Richter, M., Molenda, C. M., Sporbert, A., Zenkner, M., Schnoegl, S., Suenkel, C., Schneider, L. S., Rybak-Wolf, A., Kochnowsky, B., Byrne, L. M., Wild, E. J., Nielsen, J. E. & 4 others, , 2023, In: Genome Medicine. 15, 1, 32 p., 50.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia
GENetic Frontotemporal dementia Initiative (GENFI), G. F. D. I. (., 2023, In: Human Brain Mapping. 44, 7, p. 2684-2700 17 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients
Mou, Y., Nandi, G., Mukte, S., Chai, E., Chen, Z., Nielsen, Jørgen Erik, Nielsen, T. T., Criscuolo, C., Blackstone, C., Fraidakis, M. J. & Li, X. J., 2023, In: Orphanet Journal of Rare Diseases. 18, 1, 16 p., 72.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Endo-lysosomal protein concentrations in CSF from patients with frontotemporal dementia caused by CHMP2B mutation
Toft, A., Sjödin, S., Simonsen, A. H., Ejlerskov, P., Roos, P., Musaeus, C. S., Henriksen, E. E., Nielsen, T. T., Brinkmalm, A., Blennow, K., Zetterberg, H. & Nielsen, Jørgen Erik, 2023, In: Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. 15, 1, 9 p., e12402.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Golgi fragmentation: One of the earliest organelle phenotypes in Alzheimer's disease neurons
Haukedal, H., Corsi, G. I., Gadekar, V. P., Doncheva, N. T., Kedia, S., de Haan, N., Chandrasekaran, A., Jensen, P., Schiønning, P., Vallin, S., Marlet, F. R., Poon, A., Pires, C., Agha, F. K., Wandall, H. H., Cirera, S., Simonsen, A. H., Nielsen, T. T., Nielsen, J. E., Hyttel, P. & 7 others, , 2023, In: Frontiers in Neuroscience. 17, 17 p., 1120086.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
On the association between apathy and deficits of social cognition and executive functions in Huntington's disease
Hendel, Rebecca K., Hellem, M. N. N., Hjermind, L. E., Nielsen, Jørgen Erik & Vogel, Asmus, 2023, In: Journal of the International Neuropsychological Society. 29, 4, p. 369-376 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2022
- Published
An Exploratory Study Investigating Autonomy in Huntington's Disease Gene Expansion Carriers
Hendel, Rebecca K., Hellem, M. N. N., Hjermind, L. E., Nielsen, Jørgen Erik & Vogel, Asmus, 2022, In: Journal of Huntington's disease. 11, 4, p. 373-381 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
D13 Saliva biomarker discovery in Huntington’s disease
Qvist, Filippa Liliendahl, Hellem, M. N., Nielsen, Jørgen Erik, Mann, Matthias & Skotte, Niels Henning, 2022, In: Journal of Neurology, Neurosurgery and Psychiatry. 93, Suppl. 1, p. A24-A25Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
- Published
Decreased CSF oxytocin relates to measures of social cognitive impairment in Huntington's disease patients
Hellem, M. N. N., Cheong, R. Y., Tonetto, S., Vinther-Jensen, T., Hendel, Rebecca K., Larsen, I. U., Nielsen, T. T., Hjermind, L. E., Vogel, Asmus, Budtz-Joergensen, Esben, Petersén, Å. & Nielsen, Jørgen Erik, 2022, In: Parkinsonism and Related Disorders. 99, p. 23-29 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Demens og bevægeforstyrrelser
Hjermind, L. E. & Nielsen, Jørgen Erik, 2022, Forstå demens. 3 ed. Hans Reitzels Forlag, p. 75-81Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Communication
- Published
Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia
Nielsen, E. N., Ásbjörnsdóttir, B., Møller, L. B., Nielsen, Jørgen Erik & Lindquist, Suzanne Granhøj, 2022, In: Cold Spring Harbor molecular case studies. 8, 6, a006236.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Increased Intrathecal Activity of Follicular Helper T Cells in Patients With Relapsing-Remitting Multiple Sclerosis
Hansen, Rikke Holm, Talbot, J., Højsgaard Chow, H., Bredahl Hansen, M., Buhelt, S., Herich, S., Schwab, N., Hellem, M. N. N., Nielsen, Jørgen Erik, Sellebjerg, Finn Thorup & von Essen, Marina Rode, 2022, In: Neurology(R) neuroimmunology & neuroinflammation. 9, 5, 13 p., e200009.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia
Karlsson, W. K., Højgaard, J. L. S., Vilhelmsen, A., Crone, C., Andersen, B., Law, Ian, Møller, L. B., Nielsen, T. T., Nielsen, E. N., Krag, T., Svenstrup, K. & Nielsen, Jørgen Erik, 2022, In: Cerebellum. 21, 3, p. 514-519 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Peripheral helper T cells in the pathogenesis of multiple sclerosis
Hansen, R. H., Chow, H. H., Talbot, J., Buhelt, S., Hellem, M. N. N., Nielsen, Jørgen Erik, Sellebjerg, Finn Thorup & von Essen, M. R., 2022, In: Multiple Sclerosis Journal. 28, 9, p. 1340-1350 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Relationship between cerebrospinal fluid biomarkers of inflammation and tissue damage in primary progressive multiple sclerosis
Talbot, J., Højsgaard Chow, H., Mahler, M., Buhelt, S., Hansen, Rikke Holm, Lundell, H., Vinther-Jensen, T., Hellem, M. N. N., Nielsen, Jørgen Erik, Siebner, Hartwig Roman, von Essen, Marina Rode & Sellebjerg, Finn Thorup, 2022, In: Multiple Sclerosis and Related Disorders. 68, 104209.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival
Roos, P., Johannsen, P., Lindquist, Suzanne Granhøj, Brown, J. M., Waldemar, Gunhild, Duno, M., Nielsen, T. T., Budtz-Joergensen, Esben, Gydesen, S., Holm, I. E., Collinge, J., Isaacs, A. M. & Nielsen, Jørgen Erik, 2022, In: Acta Neurologica Scandinavica. 145, 5, p. 529-540 12 p.Research output: Contribution to journal › Review › Research › peer-review
- Published
Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10)
Ásbjörnsdóttir, B., Henriksen, O. M., Lindquist, Suzanne Granhøj, Møller, L. B., Sidaros, A. & Nielsen, Jørgen Erik, 2022, In: BMJ Case Reports. 15, 3, e248228.Research output: Contribution to journal › Journal article › Research › peer-review
- 2021
- Published
Endophenotypical drift in Huntington’s disease: a 5-year follow-up study
Hellem, M. N. N., Hendel, Rebecca K., Vinther-Jensen, T., Larsen, I. U., Nielsen, T. T., Hjermind, L. E., Budtz-Joergensen, Esben, Vogel, Asmus & Nielsen, Jørgen Erik, Dec 2021, In: Orphanet Journal of Rare Diseases. 16, 1, 5 p., 340.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Intellectual Curiosity and Action Initiation are Subtypes of Apathy Affected in Huntington Disease Gene Expansion Carriers
Hendel, Rebecca K., Hellem, M. N. N., Hjermind, L. E., Nielsen, Jørgen Erik & Vogel, Asmus, Dec 2021, In: Cognitive and Behavioral Neurology. 34, 4, p. 295-302Research output: Contribution to journal › Journal article › Research › peer-review
- Published
CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity
Perez, B. A., Shorrock, H. K., Banez-Coronel, M., Zu, T., Romano, L. E., Laboissonniere, L. A., Reid, T., Ikeda, Y., Reddy, K., Gomez, C. M., Bird, T., Ashizawa, T., Schut, L. J., Brusco, A., Berglund, J. A., Hasholt, Lis Frydenreich, Nielsen, Jørgen Erik, Subramony, S. H. & Ranum, L. P., 8 Nov 2021, In: EMBO Molecular Medicine. 13, 11, 15 p., e14095.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Allogenic hematopoietic stem cell transplantation in two siblings with adult metachromatic leukodystrophy and a systematic literature review
Videbæk, C., Stokholm, J., Sengeløv, Henrik, Fjeldborg, L. U., Larsen, V. A., Krarup, Christian, Nielsen, Jørgen Erik & Grønborg, S., 2021, In: JIMD Reports. 60, 1, p. 96-104 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Astrocytic reactivity triggered by defective autophagy and metabolic failure causes neurotoxicity in frontotemporal dementia type 3
Chandrasekaran, A., Dittlau, K. S., Corsi, G. I., Haukedal, H., Doncheva, N. T., Ramakrishna, S., Ambardar, S., Salcedo, C., Schmidt, S. I., Zhang, Y., Cirera, S., Pihl, M., Schmid, B., Nielsen, T. T., Nielsen, J. E., Kolko, M., Kobolák, J., Dinnyés, A., Hyttel, P., Palakodeti, D. & 5 others, , 2021, In: Stem Cell Reports. 16, 11, p. 2736-2751Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Cortical Frontoparietal Network Dysfunction in CHMP2B-Frontotemporal Dementia
Musaeus, C. S., Pedersen, J. S., Kjær, T. W., Johannsen, P., Waldemar, Gunhild, Haverberg, M. J. N., Bacher, T., Nielsen, Jørgen Erik, Roos, P. & The FReJA Consortium, T. F. C., 2021, In: Frontiers in Aging Neuroscience. 13, 714220.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes
Reus, L. M., Pasaniuc, B., Posthuma, D., Boltz, T., Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Brooks, W. S., Schofield, P. R., Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., Thompson, E., Hernández, I., Ruiz, A. & 139 others, , 2021, In: Biological Psychiatry. 89, 8, p. 825-835 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Hybrid 2-[18F] FDG PET/MRI in premanifest Huntington's disease gene-expansion carriers: The significance of partial volume correction
Hellem, M. N. N., Vinther-Jensen, T., Anderberg, L., Budtz-Joergensen, Esben, Hjermind, L. E., Larsen, V. A., Nielsen, Jørgen Erik & Law, Ian, 2021, In: PLoS ONE. 16, 6, 13 p., 0252683.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
Dewan, R., Chia, R., Ding, J., Hickman, R. A., Stein, T. D., Abramzon, Y., Ahmed, S., Sabir, M. S., Portley, M. K., Tucci, A., Ibáñez, K., Shankaracharya, F. N. U., Keagle, P., Rossi, G., Caroppo, P., Tagliavini, F., Waldo, M. L., Johansson, P. M., Nilsson, C. F., Adeleye, A. & 38 others, , 2021, In: Neuron. 109, 3, p. 448-460 13 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2020
- Published
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
Roux, T., Barbier, M., Papin, M., Davoine, C. S., Sayah, S., Coarelli, G., Charles, P., Marelli, C., Parodi, L., Tranchant, C., Goizet, C., Klebe, S., Lohmann, E., Van Maldergen, L., van Broeckhoven, C., Coutelier, M., Tesson, C., Stevanin, G., Duyckaerts, C., Brice, A. & 31 others, , 1 Nov 2020, In: Genetics in Medicine. 22, 11, p. 1851-1862 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Enhancement of Autophagy and Solubilization of Ataxin-2 Alleviate Apoptosis in Spinocerebellar Ataxia Type 2 Patient Cells
Wardman, Jonathan Henry, Henriksen, E. E., Marthaler, A. G., Nielsen, Jørgen Erik & Nielsen, T. T., Apr 2020, In: Cerebellum (London, England). 19, 2, p. 165-181 17 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Early Intrathecal T Helper 17.1 Cell Activity in Huntington Disease
Essen, M. R., Hellem, M. N. N., Vinther‐jensen, T., Ammitzbøll, C., Hansen, R. H., Hjermind, L. E., Nielsen, T. T., Nielsen, Jørgen Erik & Sellebjerg, Finn Thorup, 2020, In: Annals of Neurology. 87, 2, p. 246-255Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Glutamate-glutamine homeostasis is perturbed in neurons and astrocytes derived from patient iPSC models of frontotemporal dementia
Aldana, Blanca, Zhang, Y., Jensen, P., Chandrasekaran, Abinaya, Christensen, S. K., Nielsen, T. T., Nielsen, Jørgen Erik, Hyttel, P., Larsen, M. R., Waagepetersen, Helle S. & Freude, Kristine, 2020, In: Molecular Brain. 13, 1, 7 p., 125.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Mania triggered by levodopa treatment in a patient with frontotemporal dementia caused by A C9orf72 repeat expansion: A case report
Thorlacius-Ussing, G., Nielsen, Jørgen Erik, Law, Ian, Hansen, H. V. & Andersen, B. B., 2020, In: Clinical Neurology and Neurosurgery. 198, 3 p., 106147.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis
Gao, Y., Wang, T., Yu, X., Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Brooks, W. S., Schofield, P. R., Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., Thompson, E., Haan, E., Hernández, I., Ruiz, A. & 31 others, , 2020, In: Scientific Reports. 10, 1, 12 p., 12184.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene
Bech, S., Løkkegaard, Annemette, Nielsen, T. T., Nørremølle, Anne, Grønborg, S., Hasholt, Lis Frydenreich, Steffensen, G. K., Graehn, G., Olesen, J. H., Tommerup, Niels, Mang, Y., Bak, M., Nielsen, Jørgen Erik, Eiberg, Hans Rudolf Lytchoff & Hjermind, L. E., 2020, In: Movement Disorders. 35, 12, p. 2343-2347Research output: Contribution to journal › Journal article › Research › peer-review
- 2019
- Published
Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants
Toft, A., Birk, S., Ballegaard, Martin, Dunø, M., Hjermind, L. E., Nielsen, Jørgen Erik & Svenstrup, K., Mar 2019, In: Journal of Neurology. 266, 3, p. 735-744 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Dysregulation of FGFR signalling by a selective inhibitor reduces germ cell survival in human fetal gonads of both sexes and alters the somatic niche in fetal testes
Harpelunde Poulsen, K., Nielsen, Jørgen Erik, Frederiksen, H., Melau, C., Juul Hare, K., Langhoff Thuesen, L., Perlman, S., Lundvall, L., Mitchell, R. T., Juul, Anders, Rajpert-De Meyts, E. & Jørgensen, Anders, 2019, In: Human Reproduction. 34, 11, p. 2228-2243 16 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia
Nielsen, Jørgen Erik & International FTD-Genomics Consortium (IFGC), I. F. C. (., 2019, In: Scientific Reports. 9, 1, 10 p., 10854.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia
International Frontotemporal Dementia Genomics Consortium, I. F. D. G. C., Ferrari, R., Rohrer, J. D., Ramasamy, A., Nielsen, Jørgen Erik, Hjermind, L. E., Lebouvier, T., Ferrucci, L. & Kapogiannis, D., 2019, In: Nature Medicine. 25, p. 152-164Research output: Contribution to journal › Journal article › Research › peer-review
- 2018
- Published
Beneficial effect of intravenous immunoglobulin treatment in a patient with antiphospholipid syndrome associated chorea
Dombernowsky, N. W., Nielsen, E. N., Law, Ian & Nielsen, Jørgen Erik, 2018, In: Journal of the Neurological Sciences. 390, p. 52-53 2 p.Research output: Contribution to journal › Comment/debate › Research
- Published
CSF neurofilament light concentration is increased in presymptomatic CHMP2B mutation carriers
Rostgaard, N., Roos, P., Portelius, E., Blennow, K., Zetterberg, H., Simonsen, A. H. & Nielsen, Jørgen Erik, 2018, In: Neurology. 90, 2, p. e157-e163Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14
Chelban, V., Wiethoff, S., Fabian-Jessing, B. K., Haridy, N. A., Khan, A., Efthymiou, S., Becker, E. B. E., O'Connor, E., Hersheson, J., Newland, K., Hojland, A. T., Gregersen, P. A., Lindquist, Suzanne Granhøj, Petersen, M. B., Nielsen, Jørgen Erik, Nielsen, M., Wood, N. W., Giunti, P. & Houlden, H., 2018, In: Movement Disorders. 33, 7, p. 1119-1129 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies
Broce, I., Karch, C. M., Wen, N., Fan, C. C., Wang, Y., Hong Tan, C., Kouri, N., Ross, O. A., Höglinger, G. U., Muller, U., Hardy, J., Momeni, P., Hess, C. P., Dillon, W. P., Miller, Z. A., Bonham, L. W., Rabinovici, G. D., Rosen, H. J., Schellenberg, G. D., Franke, A. & 31 others, , 2018, In: PLoS Medicine. 15, 1, 20 p., e1002487.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Inflammatory markers of CHMP2B-mediated frontotemporal dementia
Roos, P., von Essen, Marina Rode, Nielsen, T. T., Johannsen, P., Stokholm, J., Bie, A. S., Waldemar, Gunhild, Simonsen, A. H., Heslegrave, A., Zetterberg, H., FReJA Consortium, F. C., Sellebjerg, Finn Thorup & Nielsen, Jørgen Erik, 2018, In: Journal of Neuroimmunology. 324, p. 136-142 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Positive association between cholesterol in human seminal plasma and sperm counts: results from a cross-sectional cohort study and immunohistochemical investigations
de Neergaard, R., Nielsen, Jørgen Erik, Jørgensen, Anders, Toft, B. G., Goetze, J. P. & Jørgensen, N., 2018, In: Andrology. 6, 6, p. 817-828Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study
Pottier, C., Zhou, X., Perkerson, R. B., Baker, M., Jenkins, G. D., Serie, D. J., Ghidoni, R., Benussi, L., Binetti, G., López De Munain, A., Zulaica, M., Moreno, F., Le Ber, I., Pasquier, F., Hannequin, D., Sánchez-Valle, R., Antonell, A., Lladó, A., Parsons, T. M., Finch, N. A. & 113 others, , 2018, In: The Lancet Neurology. 17, 6, p. 548-558Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Quality control for plasma and cerebrospinal fluid samples using mass spectrometry
Skotte, N. H., Geyer, P. E., Steger, M., Treit, P. V., Voytik, E., Hellem, M. N., Nielsen, Jørgen Erik & Mann, Matthias, 2018, In: Journal of Neurology, Neurosurgery and Psychiatry. 89, p. A31-A32Research output: Contribution to journal › Conference abstract in journal › Research
- Published
Quantitative Measurements of Motor Function in Alzheimer's Disease, Frontotemporal Dementia, and Dementia with Lewy Bodies: A Proof-of-Concept Study
Kragh, F. J., Bruun, M., Budtz-Joergensen, Esben, Hjermind, L. E., Schubert, R., Reilmann, R., Nielsen, Jørgen Erik & Hasselbalch, Steen, 2018, In: Dementia and Geriatric Cognitive Disorders. 46, 3-4, p. 168-179 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Sporadic Creutzfeldt-Jakob Disease in a Woman Married Into a Gerstmann-Sträussler-Scheinker Family: An Investigation of Prions Transmission via Microchimerism
Areškeviciute, A., Melchior, L. C., Broholm, H., Krarup, L., Lindquist, Suzanne Granhøj, Johansen, P., McKenzie, N., Green, A., Nielsen, Jørgen Erik, Laursen, H. & Lund, Eva Løbner, 2018, In: Journal of Neuropathology and Experimental Neurology. 77, 8, p. 673-684 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2017
- Published
Neurons derived from sporadic Alzheimer's disease iPSCs reveal elevated TAU hyperphosphorylation, increased amyloid levels, and GSK3B activation
Ochalek, A., Mihalik, B., Avci, H. X., Chandrasekaran, Abinaya, Téglási, A., Bock, I., Giudice, M. L., Táncos, Z., Molnár, K., László, L., Nielsen, Jørgen Erik, Holst, B., Freude, Kristine, Hyttel, P., Kobolák, J. & Dinnyés, A., Dec 2017, In: Alzheimer's Research and Therapy. 9, 1, 19 p., 90.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3)
Rostgaard, N., Roos, P., Budtz-Joergensen, Esben, Johannsen, P., Waldemar, Gunhild, Nørremølle, Anne, Lindquist, S. G., Gydesen, S., Brown, J. M., Collinge, J., Isaacs, A. M., Nielsen, T. T., Nielsen, Jørgen Erik & FReJA collaboration, F. C., Nov 2017, In: Neurobiology of Aging. 59, p. 221.e1-221.e7 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Evidence of oxidative stress and mitochondrial dysfunction in spinocerebellar ataxia type 2 (SCA2) patient fibroblasts: Effect of coenzyme Q10 supplementation on these parameters
Cornelius, N., Wardman, J. H., Hargreaves, I. P., Neergheen, V., Bie, A. S., Tümer, Asuman Zeynep, Nielsen, Jørgen Erik & Nielsen, T. T., May 2017, In: Mitochondrion. 34, p. 103-114 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Hereditary cerebral small vessel disease and stroke
Søndergaard, C. B., Nielsen, Jørgen Erik, Hansen, C. K. & Christensen, Hanne Krarup, Apr 2017, In: Clinical Neurology and Neurosurgery. 155, p. 45-57 13 p.Research output: Contribution to journal › Review › Research › peer-review
- Published
A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia
Lindquist, S. G., Møller, L. B., Dali, C. I., Marner, L., Kamsteeg, E. J., Nielsen, Jørgen Erik & Hjermind, L. E., Feb 2017, In: Cerebellum. 16, 1, p. 268-271 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy
Svenstrup, K., Nielsen, T. T., Aidt, F., Rostgaard, N., Duno, M., Wibrand, F., Vinther-Jensen, T., Law, Ian, Vissing, John, Roos, P., Hjermind, L. E. & Nielsen, Jørgen Erik, Feb 2017, In: The Cerebellum. 16, 1, p. 62-67 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Characterization of energy and neurotransmitter metabolism in cortical glutamatergic neurons derived from human induced pluripotent stem cells: A novel approach to study metabolism in human neurons
Aldana, Blanca, Zhang, Y., Lihme, M. F., Bak, Lasse Kristoffer, Nielsen, Jørgen Erik, Holst, B., Hyttel, P., Freude, Kristine & Waagepetersen, Helle S., 2017, In: Neurochemistry International. 106, p. 48-61Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Defining active progressive multiple sclerosis
Sellebjerg, Finn Thorup, Börnsen, L., Ammitzbøll, C., Nielsen, Jørgen Erik, Vinther-Jensen, T., Hjermind, L. E., von Essen, M., Ratzer, R. L., Sørensen, Per Soelberg & Romme Christensen, J., 2017, In: Multiple Sclerosis. 23, 13, p. 1727-1735Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation
Clayton, E. L., Mancuso, R., Nielsen, T. T., Mizielinska, S., Holmes, H., Powell, N., Norona, F., Larsen, J. O., Milioto, C., Wilson, K. M., Lythgoe, M. F., Ourselin, S., Nielsen, Jørgen Erik, Johannsen, P., Holm, I., Collinge, J., Oliver, P. L., Gomez-Nicola, D. & Isaacs, A. M., 2017, In: Human Molecular Genetics. 26, 5, p. 873-887 15 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Patient iPSC-derived neurons for disease modeling of frontotemporal dementia with mutation in CHMP2B
Zhang, Y., Schmid, B., Qas Younan, N. K., Rasmussen, M. A., Garcia, B. I. A., Agger, M., Callø, K., Stummann, T. C., Larsen, H. M., Nielsen, T. T., Huang, J., Xu, F., Liu, X., Bolund, L., Meyer, M., Bak, L. K., Waagepetersen, H. S., Luo, Y., Nielsen, J. E., Consortium, T. FRA. & 4 others, , 2017, In: Stem Cell Reports. 8, 3, p. 648-658Research output: Contribution to journal › Journal article › Research › peer-review
- 2016
- Published
Social Cognition, Executive Functions and Self-Report of Psychological Distress in Huntington's Disease
Larsen, I. U., Vinther-Jensen, T., Nielsen, Jørgen Erik, Gade, A. & Vogel, Asmus, 28 Dec 2016, In: PLoS Currents. 8, p. 1-20Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Personality Traits in Huntington's Disease: An Exploratory Study of Gene Expansion Carriers and Non-Carriers
Larsen, I. U., Mortensen, Erik Lykke, Vinther-Jensen, T., Nielsen, Jørgen Erik, Knudsen, Gitte Moos & Vogel, Asmus, Dec 2016, In: American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics. 171, 8, p. 1153-1160 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Selected CSF biomarkers indicate no evidence of early neuroinflammation in Huntington disease
Vinther-Jensen, T., Börnsen, L. S., Budtz-Joergensen, Esben, Ammitzboll, C., Larsen, I. U., Hjermind, L. E., Sellebjerg, Finn Thorup & Nielsen, Jørgen Erik, Dec 2016, In: Neurology: Neuroimmunology & Neuroinflammation. 3, 6, e287.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Derivation of induced pluripotent stem cells from a familial Alzheimer's disease patient carrying the L282F mutation in presenilin 1
Poon, A. F., Li, T., Pires, C., Nielsen, T. T., Nielsen, Jørgen Erik, Holst, B., Dinnyes, A., Hyttel, P. & Freude, Kristine, Nov 2016, In: Stem Cell Research. 17, 3, p. 470-473 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1
Poon, A. F., Schmid, B., Pires, C., Nielsen, T. T., Hjermind, L. E., Nielsen, Jørgen Erik, Holst, B., Hyttel, P. & Freude, Kristine, Nov 2016, In: Stem Cell Research. 17, 3, p. 466-469 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Generation of an isogenic, gene-corrected iPSC line from a pre-symptomatic 28-year-old woman with an R406W mutation in the microtubule associated protein tau (MAPT) gene
Nimsanor, N., Poulsen, U., Rasmussen, M. A., Clausen, C., Mau-Holzmann, U. A., Nielsen, Jørgen Erik, Nielsen, T. T., Hyttel, P., Holst, B. & Schmid, B., Nov 2016, In: Stem Cell Research. 17, 3, p. 600-602 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Generation of an isogenic, gene-corrected iPSC line from a symptomatic 57-year-old female patient with frontotemporal dementia caused by a P301L mutation in the microtubule associated protein tau (MAPT) gene
Nimsanor, N., Kitiyanant, N., Poulsen, U., Rasmussen, M. A., Clausen, C., Mau-Holzmann, U. A., Nielsen, Jørgen Erik, Nielsen, T. T., Hyttel, P., Holst, B. & Schmid, B., Nov 2016, In: Stem Cell Research. 17, 3, p. 556-559 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Generation of an isogenic, gene-corrected iPSC line from a symptomatic 59-year-old female patient with frontotemporal dementia caused by an R406W mutation in the microtubule associated protein tau (MAPT) gene
Nimsanor, N., Poulsen, U., Rasmussen, M. A., Clausen, C., Mau-Holzmann, U. A., Nielsen, Jørgen Erik, Nielsen, T. T., Hyttel, P., Holst, B. & Schmid, B., Nov 2016, In: Stem Cell Research. 17, 3, p. 576-579 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Induced pluripotent stem cells (iPSCs) derived from a symptomatic carrier of a S305I mutation in the microtubule-associated protein tau (MAPT)-gene causing frontotemporal dementia
Nimsanor, N., Jørring, I., Rasmussen, M. A., Clausen, C., Mau-Holzmann, U. A., Kitiyanant, N., Nielsen, Jørgen Erik, Nielsen, T. T., Hyttel, P., Holst, B. & Schmid, B., Nov 2016, In: Stem Cell Research. 17, 3, p. 564-567 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Generation of a gene-corrected isogenic control cell line from an Alzheimer's disease patient iPSC line carrying a A79V mutation in PSEN1
Pires, C., Schmid, B., Petræus, C., Poon, A. F., Nimsanor, N., Nielsen, T. T., Waldemar, Gunhild, Hjermind, L. E., Nielsen, Jørgen Erik, Hyttel, P. & Freude, Kristine, Sep 2016, In: Stem Cell Research. 17, 2, p. 285-288 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Induced pluripotent stem cell - derived neurons for the study of spinocerebellar ataxia type 3
Hansen, S. K., Stummann, T. C., Madsen, Helena Borland, Hasholt, Lis Frydenreich, Tümer, Asuman Zeynep, Nielsen, Jørgen Erik, Rasmussen, M. A., Nielsen, T. T., Daechsel, J. C. A., Fog, K. & Hyttel, P., Sep 2016, In: Stem Cell Research. 17, 2, p. 306-317 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Evolution of cerebral PET glucose metabolism from presymptomatic to symtomatic frontotemporal dementia linked to chromosome 3 (FTD-3) - a voxel based SPM analysis
Johannsen, P., Law, Ian, Hansen, C., Roos, P., Stokholm, Jakob, Isaacs, A. M., Brown, J. & Nielsen, Jørgen Erik, Aug 2016, In: Journal of Neurochemistry. 138, S1, p. 375-375Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
- Published
TMEM106B and APOE as genetic modifiers of FTD-3 in the Danish CHMP2B family
Roos, P., Rostgaard, N., Johannsen, P., Brown, J. M., Isaacs, A. M., Waldemar, G., Nielsen, T. T. & Nielsen, Jørgen Erik, Aug 2016, In: Journal of Neurochemistry. 138, S1, p. 319-320Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
- Published
Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific heterozygous mutation in CHMP2B
Zhang, Y., Schmid, B., Nielsen, T. T., Nielsen, Jørgen Erik, Clausen, C., Hyttel, P., Holst, B. & Freude, Kristine, Jul 2016, In: Stem Cell Research. 17, 1, p. 148-150 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11
Hansen, S. K., Madsen, Helena Borland, Hasholt, Lis Frydenreich, Tümer, Asuman Zeynep, Nielsen, Jørgen Erik, Rasmussen, M. A., Nielsen, T. T., Stummann, T. C., Fog, K. & Hyttel, P., May 2016, In: Stem Cell Research. 16, 3, p. 553-556 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11
Hansen, S. K., Madsen, Helena Borland, Hasholt, Lis Frydenreich, Tümer, Asuman Zeynep, Nielsen, Jørgen Erik, Rasmussen, M. A., Nielsen, T. T., Stummann, T. C., Fog, K. & Hyttel, P., May 2016, In: Stem Cell Research. 16, 3, p. 589-592 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Liver function in Huntington's disease assessed by blood biochemical analyses in a clinical setting
Nielsen, S. M. B., Vinther-Jensen, T., Nielsen, Jørgen Erik, Nørremølle, Anne, Hasholt, Lis Frydenreich, Hjermind, L. E. & Josefsen, K., 15 Mar 2016, In: Journal of the Neurological Sciences. 362, p. 326-332 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a M146I mutation in PSEN1
Li, T., Pires, C., Nielsen, T. T., Waldemar, Gunhild, Hjermind, L. E., Nielsen, Jørgen Erik, Dinnyes, A., Holst, B., Hyttel, P. & Freude, Kristine, Mar 2016, In: Stem Cell Research. 16, 2, p. 334-337 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying an A79V mutation in PSEN1
Li, T., Pires, C., Nielsen, T. T., Waldemar, Gunhild, Hjermind, L. E., Nielsen, Jørgen Erik, Dinnyes, A., Hyttel, P. & Freude, Kristine, Mar 2016, In: Stem Cell Research. 16, 2, p. 229-332 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H196
Marthaler, A. G., Schmid, B., Tubsuwan, A., Poulsen, U. B., Engelbrecht, A. F., Mau-Holzmann, U. A., Hyttel, P., Nielsen, Jørgen Erik, Nielsen, T. T. & Holst, B., Jan 2016, In: Stem Cell Research. 16, 1, p. 162-165 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H266
Marthaler, A. G., Tubsuwan, A., Schmid, B., Poulsen, U. B., Engelbrecht, A. F., Mau-Holzmann, U. A., Hyttel, P., Nielsen, T. T., Nielsen, Jørgen Erik & Holst, B., Jan 2016, In: Stem Cell Research. 16, 1, p. 202-205 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H271
Marthaler, A. G., Schmid, B., Tubsuwan, A., Poulsen, U. B., Engelbrecht, A. F., Mau-Holzmann, U. A., Hyttel, P., Nielsen, Jørgen Erik, Nielsen, T. T. & Holst, B., Jan 2016, In: Stem Cell Research. 16, 1, p. 180-183 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a L150P mutation in PSEN-1
Tubsuwan, A., Pires, C., Rasmussen, M. A., Schmid, B., Nielsen, Jørgen Erik, Hjermind, L. E., Hall, Vanessa Jane, Nielsen, T. T., Waldemar, Gunhild, Hyttel, P., Clausen, C., Kitiyanant, N., Freude, Kristine & Holst, B., Jan 2016, In: Stem Cell Research. 16, 1, p. 110-112 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H196
Marthaler, A. G., Schmid, B., Tubsuwan, A., Poulsen, U. B., Hyttel, P., Nielsen, T. T., Nielsen, Jørgen Erik & Holst, B., Jan 2016, In: Stem Cell Research. 16, 1, p. 199-201 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H266
Marthaler, A. G., Schmid, B., Tubsuwan, A., Poulsen, U. B., Hyttel, P., Nielsen, T. T., Nielsen, Jørgen Erik & Holst, B., Jan 2016, In: Stem Cell Research. 16, 1, p. 166-169 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H271
Marthaler, A. G., Tubsuwan, A., Schmid, B., Poulsen, U. B., Hyttel, P., Nielsen, Jørgen Erik, Nielsen, T. T. & Holst, B., Jan 2016, In: Stem Cell Research. 16, 1, p. 159-161 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a R406W mutation in microtubule-associated protein tau (MAPT)
Rasmussen, M. A., Hjermind, L. E., Hasholt, Lis Frydenreich, Waldemar, Gunhild, Nielsen, Jørgen Erik, Clausen, C., Hyttel, P. & Holst, B., Jan 2016, In: Stem Cell Research. 16, 1, p. 75-78 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Do I misconstrue? Sarcasm detection, emotion recognition, and Theory of Mind in Huntington disease
Larsen, I. U., Vinther-Jensen, T., Gade, A., Nielsen, Jørgen Erik & Vogel, A. M., 2016, In: Neuropsychology. 30, 2, p. 181-189Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific homozygous mutation in CHMP2B
Zhang, Y., Schmid, B., Nielsen, T. T., Nielsen, Jørgen Erik, Clausen, C., Hyttel, P., Holst, B. & Freude, Kristine, 2016, In: Stem Cell Research. 17, 1, p. 151-153 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a P301L mutation in microtubule-associated protein tau (MAPT)
Rasmussen, M. A., Hjermind, L. E., Hasholt, Lis Frydenreich, Waldemar, Gunhild, Nielsen, Jørgen Erik, Clausen, C., Hyttel, P. & Holst, B., 2016, In: Stem Cell Research. 16, 1, p. 70-74 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Induced pluripotent stem cells (iPSCs) derived from af pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia
Rasmussen, M. A., Hjermind, L. E., Hasholt, Lis Frydenreich, Waldemar, Gunhild, Nielsen, Jørgen Erik, Clausen, C., Hyttel, P. & Holst, B., 2016, In: Stem Cell Research. 16, 1, p. 105-109 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2015
- Published
Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology
Clayton, E. L., Mizielinska, S., Edgar, J. R., Nielsen, T. T., Marshall, S., Norona, F. E., Robbins, M., Damirji, H., Holm, I. E., Johannsen, P., Nielsen, Jørgen Erik, Asante, E. A., Collinge, J. & Isaacs, A. M., Oct 2015, In: Acta Neuropathologica. 130, 4, p. 511-523 13 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Ubiquitin: a potential cerebrospinal fluid progression marker in Huntington's disease
Vinther-Jensen, T., Simonsen, A. H., Budtz-Joergensen, Esben, Hjermind, L. E. & Nielsen, Jørgen Erik, Oct 2015, In: European Journal of Neurology. 22, 10, p. 1378-1384 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Assessing Impairment of Executive Function and Psychomotor Speed in Premanifest and Manifest Huntington's Disease Gene-expansion Carriers
Unmack Larsen, I., Vinther-Jensen, T., Gade, A., Nielsen, Jørgen Erik & Vogel, Asmus, Mar 2015, In: Journal of the International Neuropsychological Society. 21, 3, p. 193-202 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Cerebrospinal Fluid Biomarkers in Familial Forms of Alzheimer's Disease and Frontotemporal Dementia
Rostgaard, N., Waldemar, Gunhild, Nielsen, Jørgen Erik & Simonsen, A. H., 2015, In: Dementia and Geriatric Cognitive Disorders. 40, 1-2, p. 54-62 9 p.Research output: Contribution to journal › Review › Research › peer-review
- 2014
- Published
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia
Minocherhomji, S., Hansen, C., Kim, H., Mang, Y., Bak, M., Guldberg, P., Papadopoulos, N., Eiberg, Hans Rudolf Lytchoff, Doh, G. D., Møllgård, Kjeld, Hertz, J. M., Nielsen, Jørgen Erik, Ropers, H., Tümer, Asuman Zeynep, Tommerup, Niels, Kalscheuer, V. M. & Silahtaroglu, Asli, 1 Dec 2014, In: Human Molecular Genetics. 23, 23, p. 6163-6176 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
YKL-40 in cerebrospinal fluid in Huntington's disease--a role in pathology or a nonspecific response to inflammation?
Vinther-Jensen, T., Budtz-Joergensen, Esben, Simonsen, A. H., Nielsen, Jørgen Erik & Hjermind, L. E., Nov 2014, In: Parkinsonism & Related Disorders. 20, 11, p. 1301-3 3 p.Research output: Contribution to journal › Letter › Research › peer-review
- Published
A clinical classification acknowledging neuropsychiatric and cognitive impairment in Huntingtons disease
Vinther-Jensen, T., Larsen, I. U., Hjermind, L. E., Budtz-Joergensen, Esben, Nielsen, T. T., Nørremølle, Anne, Nielsen, Jørgen Erik & Vogel, Asmus, 17 Jul 2014, In: Orphanet Journal of Rare Diseases. 9, 1, p. 1-9 9 p., 114.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Frontotemporal dementia and its subtypes: a genome-wide association study
Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Brooks, W. S., Schofield, P. R., Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., Thompson, E., Haan, E., Hernández, I., Ruiz, A., Boada, M., Borroni, B., Padovani, A. & 138 others, , Jul 2014, In: Lancet Neurology. 13, 7, p. 686-99 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Anlægsbærere for fragilt X-syndrom kan udvise et bredt spektrum af kliniske manifestationer
Jønch, A. E., Grønskov, K., Carlsen Lunding, J. M., Nielsen, Jørgen Erik & Brøndum-Nielsen, K., 23 Jun 2014, In: Ugeskrift for Laeger. 176, 26, p. 2-6 5 p., V02140099.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A
Roos, P., Svenstrup, K., Danielsen, E. R., Thomsen, C. & Nielsen, Jørgen Erik, May 2014, In: Acta Neurologica Scandinavica. 129, 5, p. 330-4 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 9689629
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Patient iPSC-derived neurons for disease modeling of frontotemporal dementia with mutation in CHMP2B
Research output: Contribution to journal › Journal article › Research › peer-review
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331
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Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11
Research output: Contribution to journal › Journal article › Research › peer-review
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299
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Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11
Research output: Contribution to journal › Journal article › Research › peer-review
Published