Håkan Thonberg
Anknuten till Forskning
E-postadress: hakan.thonberg@ki.se
Besöksadress: Karolinska Institutet, BioClinicum J10:20, Visionsgatan 4, 17164 Solna
Postadress: K1 Molekylär medicin och kirurgi, K1 MMK Sällsynta diagnoser, 171 76 Stockholm
Om mig
- Molekylär Genetiker vid Geriatriska Enheten, Karolinska
Univeristetssjukhuset, Huddinge
NEWS 17 Nov-2014: Co-applicant for granted project on human whole genome
sequencing of 100 AD/FTD patients, SciLifeLab National Projects
Forskningsbeskrivning
- My scientific focus are on early-onset familial dementias and genetics. We do
mutational screening for identifying possible monogenetic causes in known
causative genes for AD and FTD-ALS. The analysis includes looking for
single-nucleotide changes, copy-number variations and repeat-expansions by
using different techniquies such as next-generation sequeincg, Sanger
sequencing, quantitative real-time PCR, repeat-primed PCR and MLPA. For
identifying new causative genes in families with inherited dementia, we use
whole-exome sequencing, WES, and variant-analysis/predictions pipelines.
Artiklar
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Article: ALZHEIMER'S AND DEMENTIA: DIAGNOSIS, ASSESSMENT AND DISEASE MONITORING. 2024;16(2):e12571
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Article: ALZHEIMERS RESEARCH & THERAPY. 2024;16(1):10
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Article: OPHTHALMIC GENETICS. 2024;45(1):95-102
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Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2023;120(36):e2302720120
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Article: BRAIN. 2023;146(5):2120-2131
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Article: ALZHEIMERS & DEMENTIA. 2023;19(5):1947-1962
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Article: PLOS ONE. 2023;18(7):e0289346
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Article: FRONTIERS IN NEUROLOGY. 2023;14:1170005
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Article: JOURNAL OF NEUROLOGY. 2022;269(8):4322-4332
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Article: ALZHEIMERS & DEMENTIA. 2022;18(7):1408-1423
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Article: NEUROBIOLOGY OF AGING. 2022;114:94-104
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Article: CORTEX. 2022;150:12-28
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Article: HUMAN BRAIN MAPPING. 2022;43(6):1821-1835
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Article: NATURE GENETICS. 2022;54(4):412-436
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Article: JOURNAL OF ALZHEIMERS DISEASE. 2022;86(1):205-218
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Article: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2022;93(2):158-168
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Article: ALZHEIMERS RESEARCH & THERAPY. 2022;14(1):10
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Article: APPLIED NEUROPSYCHOLOGY-ADULT. 2022;29(1):112-119
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Article: ANNALS OF NEUROLOGY. 2022;91(1):33-47
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Article: MOLECULAR NEURODEGENERATION. 2021;16(1):79
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Article: HEREDITARY CANCER IN CLINICAL PRACTICE. 2021;19(1):46
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Article: NEUROLOGY. 2021;97(9):e941-e952
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Article: ALZHEIMERS RESEARCH & THERAPY. 2021;13(1):127
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Article: NATURE COMMUNICATIONS. 2021;12(1):3417
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Article: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2021;92(5):494-501
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Article: GENOME MEDICINE. 2021;13(1):40
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Article: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2021;92(6):jnnp-2020-324106-616
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Article: ALZHEIMERS & DEMENTIA. 2021;17(3):500-514
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Article: JAMA NETWORK OPEN. 2021;4(1):e2030194
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Article: NEUROIMAGE-CLINICAL. 2021;30:102646
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Article: NEUROIMAGE-CLINICAL. 2021;29:102540
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Article: ALZHEIMER'S AND DEMENTIA: DIAGNOSIS, ASSESSMENT AND DISEASE MONITORING. 2021;13(1):e12185
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Article: CORTEX. 2020;133:384-398
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Article: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2020;91(12):1325-1328
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Article: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2020;91(9):975-984
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Article: BRAIN COMMUNICATIONS. 2020;2(2):fcaa122
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Article: ANNALS OF NEUROLOGY. 2020;88(1):113-122
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Article: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2020;91(6):612-621
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Article: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2020;91(3):263-270
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Article: LANCET NEUROLOGY. 2020;19(2):145-156
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Article: LANCET NEUROLOGY. 2019;18(12):1103-1111
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Article: NEUROBIOLOGY OF AGING. 2019;84:241.e21-241.e25
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Article: NEUROLOGY. 2019;93(18):e1699-e1706
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Article: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2019;90(10):1124-1130
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Article: NEUROBIOLOGY OF AGING. 2019;77:169-177
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Article: BRAIN. 2019;142(4):1108-1120
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Article: NEUROIMAGE. 2019;189:645-654
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Article: NATURE GENETICS. 2019;51(3):414-430
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Article: NEUROIMAGE. 2019;188:282-290
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Article: NEUROIMAGE-CLINICAL. 2019;24:102077
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Article: NATURE COMMUNICATIONS. 2018;9(1):4273
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Article: ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY. 2018;5(9):1025-1036
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Article: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2018;89(8):851-858
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Article: JOURNAL OF ALZHEIMERS DISEASE. 2018;65(1):147-163
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Article: ALZHEIMERS RESEARCH & THERAPY. 2018;10(1):46
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Article: ALZHEIMERS RESEARCH & THERAPY. 2018;10(1):45
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Article: NEUROBIOLOGY OF AGING. 2018;62:245.e9-245.e12
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Article: NEUROBIOLOGY OF AGING. 2018;62:245.e1-245.e7
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Article: NEUROBIOLOGY OF AGING. 2018;62:191-196
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Article: ALZHEIMER'S AND DEMENTIA: DIAGNOSIS, ASSESSMENT AND DISEASE MONITORING. 2018;10:595-598
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Article: JOURNAL OF MAGNETIC RESONANCE IMAGING. 2018;47(1):131-140
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Article: PLOS ONE. 2018;13(12):e0208383
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Article: NATURE GENETICS. 2017;49(9):1373-1384
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Article: ACTA NEUROPATHOLOGICA. 2017;134(3):475-487
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Article: ACTA NEUROPATHOLOGICA COMMUNICATIONS. 2017;5(1):43
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Article: BRAIN. 2017;140(6):1784-1791
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Article: HUMAN MUTATION. 2017;38(3):297-309
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Article: ALZHEIMERS RESEARCH & THERAPY. 2017;9(1):9
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Article: JOURNAL OF HUMAN GENETICS. 2017;62(2):321-324
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Article: NEUROIMAGE-CLINICAL. 2017;15:171-180
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Article: ACTA NEUROPATHOLOGICA. 2016;132(2):213-224
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Article: HUMAN MUTATION. 2015;36(12):1226-1235
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Article: NEUROBIOLOGY OF AGING. 2015;36(5):2005.e15-2005.e22
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Article: LANCET NEUROLOGY. 2015;14(3):253-262
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Article: ACTA NEUROPATHOLOGICA. 2014;128(3):397-410
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Article: NATURE GENETICS. 2013;45(12):1452-U206
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Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2013;21(11):1260-1265
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Journal article: ALZHEIMERS & DEMENTIA. 2013;9(4S_Part_14):p557-p558
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Article: HUMAN MUTATION. 2013;34(2):363-373
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Article: BMC RESEARCH NOTES. 2011;4:476
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Article: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 2006;341(4):1211-1217
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Article: GENOMICS. 2006;87(1):165-172
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Article: REGULATORY PEPTIDES. 2005;127(1-3):45-53
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Article: NUCLEIC ACIDS RESEARCH. 2005;33(5):1671-1677
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Article: NUCLEIC ACIDS RESEARCH. 2005;33(1):439-447
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Article: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 2004;325(1):243-249
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Article: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 2004;318(4):927-934
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Article: ANTISENSE AND NUCLEIC ACID DRUG DEVELOPMENT. 2004;14(3):221-226
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Article: NUCLEIC ACIDS RESEARCH. 2003;31(14):e72
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Article: BIOCHEMICAL JOURNAL. 2002;364(Pt 1):73-79
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Article: BIOCHIMICA ET BIOPHYSICA ACTA: INTERNATIONAL JOURNAL OF BIOCHEMISTRY AND BIOPHYSICS. 2001;1538(2-3):206-217
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Article: BIOCHEMICAL JOURNAL. 2001;354(Pt 1):169-177
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Journal article: JOURNAL OF BIOLOGICAL CHEMISTRY. 1994;269(52):33179-33186
- Visa fler
Alla övriga publikationer
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:643
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:629
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:523-524
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:469
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Letter: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2022;93(3):336-339
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Editorial comment: NEUROLOGY-GENETICS. 2021;7(6):e636
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Corrigendum: HEREDITARY CANCER IN CLINICAL PRACTICE. 2021;19(1):47
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):52-53
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Corrigendum: NATURE GENETICS. 2019;51(9):1423-1424
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Conference publication: NEUROLOGY. 2017;88
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Conference publication: JOURNAL OF NEUROCHEMISTRY. 2016;138:321
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Conference publication: JOURNAL OF NEUROCHEMISTRY. 2016;138:321
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Conference publication: JOURNAL OF NEUROCHEMISTRY. 2016;138:321-322
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Conference publication: JOURNAL OF NEUROCHEMISTRY. 2016;138:304-305
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Conference publication: EUROPEAN JOURNAL OF NEUROLOGY. 2016;23:917
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Corrigendum: NUCLEIC ACIDS RESEARCH. 2005;33(11):3698