Håkan Thonberg
Anknuten till Forskning | Docent
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
- Article: ALZHEIMER'S AND DEMENTIA: DIAGNOSIS, ASSESSMENT AND DISEASE MONITORING. 2024;16(2):e12571
- Article: ALZHEIMER'S RESEARCH AND THERAPY. 2024;16(1):10
- Article: OPHTHALMIC GENETICS. 2024;45(1):95-102
- Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2023;120(36):e2302720120
- Article: BRAIN. 2023;146(5):2120-2131
- Article: ALZHEIMER'S AND DEMENTIA. 2023;19(5):1947-1962
- Article: PLOS ONE. 2023;18(7):e0289346
- Article: FRONTIERS IN NEUROLOGY. 2023;14:1170005
- Article: JOURNAL OF NEUROLOGY. 2022;269(8):4322-4332
- Article: ALZHEIMER'S AND DEMENTIA. 2022;18(7):1408-1423
- Article: NEUROBIOLOGY OF AGING. 2022;114:94-104
- Article: CORTEX. 2022;150:12-28
- Article: HUMAN BRAIN MAPPING. 2022;43(6):1821-1835
- Article: NATURE GENETICS. 2022;54(4):412-436
- Article: JOURNAL OF ALZHEIMER'S DISEASE. 2022;86(1):205-218
- Article: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY. 2022;93(2):158-168
- Article: ALZHEIMER'S RESEARCH AND THERAPY. 2022;14(1):10
- Article: APPLIED NEUROPSYCHOLOGY. ADULT. 2022;29(1):112-119
- Article: ANNALS OF NEUROLOGY. 2022;91(1):33-47
- Article: MOLECULAR NEURODEGENERATION. 2021;16(1):79
- Article: HEREDITARY CANCER IN CLINICAL PRACTICE. 2021;19(1):46
- Article: NEUROLOGY. 2021;97(9):e941-e952
- Article: ALZHEIMER'S RESEARCH AND THERAPY. 2021;13(1):127
- Article: NATURE COMMUNICATIONS. 2021;12(1):3417
- Article: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY. 2021;92(5):494-501
- Article: GENOME MEDICINE. 2021;13(1):40
- Article: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY. 2021;92(6):jnnp-2020-324106-616
- Article: ALZHEIMER'S AND DEMENTIA. 2021;17(3):500-514
- Article: JAMA NETWORK OPEN. 2021;4(1):e2030194
- Article: ALZHEIMER'S AND DEMENTIA: DIAGNOSIS, ASSESSMENT AND DISEASE MONITORING. 2021;13(1):e12185
- Article: NEUROIMAGE: CLINICAL. 2021;30:102646
- Article: NEUROIMAGE: CLINICAL. 2021;29:102540
- Article: CORTEX. 2020;133:384-398
- Article: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY. 2020;91(12):1325-1328
- Article: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY. 2020;91(9):975-984
- Article: BRAIN COMMUNICATIONS. 2020;2(2):fcaa122
- Article: ANNALS OF NEUROLOGY. 2020;88(1):113-122
- Article: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY. 2020;91(6):612-621
- Article: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY. 2020;91(3):263-270
- Article: LANCET NEUROLOGY. 2020;19(2):145-156
- Article: LANCET NEUROLOGY. 2019;18(12):1103-1111
- Article: NEUROBIOLOGY OF AGING. 2019;84:241.e21-241.e25
- Article: NEUROLOGY. 2019;93(18):e1699-e1706
- Article: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY. 2019;90(10):1124-1130
- Article: NEUROBIOLOGY OF AGING. 2019;77:169-177
- Article: BRAIN. 2019;142(4):1108-1120
- Article: NEUROIMAGE. 2019;189:645-654
- Article: NATURE GENETICS. 2019;51(3):414-430
- Article: NEUROIMAGE. 2019;188:282-290
- Article: NEUROIMAGE: CLINICAL. 2019;24:102077
- Article: NATURE COMMUNICATIONS. 2018;9(1):4273
- Article: ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY. 2018;5(9):1025-1036
- Article: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY. 2018;89(8):851-858
- Article: JOURNAL OF ALZHEIMER'S DISEASE. 2018;65(1):147-163
- Article: ALZHEIMER'S RESEARCH AND THERAPY. 2018;10(1):46
- Article: ALZHEIMER'S RESEARCH AND THERAPY. 2018;10(1):45
- Article: NEUROBIOLOGY OF AGING. 2018;62:245.e9-245.e12
- Article: NEUROBIOLOGY OF AGING. 2018;62:191-196
- Article: NEUROBIOLOGY OF AGING. 2018;62:245.e1-245.e7
- Article: ALZHEIMER'S AND DEMENTIA: DIAGNOSIS, ASSESSMENT AND DISEASE MONITORING. 2018;10:595-598
- Article: JOURNAL OF MAGNETIC RESONANCE IMAGING. 2018;47(1):131-140
- Article: PLOS ONE. 2018;13(12):e0208383
- Article: NATURE GENETICS. 2017;49(9):1373-1384
- Article: ACTA NEUROPATHOLOGICA. 2017;134(3):475-487
- Article: ACTA NEUROPATHOLOGICA COMMUNICATIONS. 2017;5(1):43
- Article: BRAIN. 2017;140(6):1784-1791
- Article: HUMAN MUTATION. 2017;38(3):297-309
- Article: ALZHEIMER'S RESEARCH AND THERAPY. 2017;9(1):9
- Article: JOURNAL OF HUMAN GENETICS. 2017;62(2):321-324
- Article: NEUROIMAGE: CLINICAL. 2017;15:171-180
- Article: ACTA NEUROPATHOLOGICA. 2016;132(2):213-224
- Article: HUMAN MUTATION. 2015;36(12):1226-1235
- Article: NEUROBIOLOGY OF AGING. 2015;36(5):2005.e15-2005.e22
- Article: LANCET NEUROLOGY. 2015;14(3):253-262
- Article: ACTA NEUROPATHOLOGICA. 2014;128(3):397-410
- Article: NATURE GENETICS. 2013;45(12):1452-U206
- Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2013;21(11):1260-1265
- Journal article: ALZHEIMER'S AND DEMENTIA. 2013;9(4S_Part_14):p557-p558
- Article: HUMAN MUTATION. 2013;34(2):363-373
- Article: BMC RESEARCH NOTES. 2011;4:476
- Article: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 2006;341(4):1211-1217
- Article: GENOMICS. 2006;87(1):165-172
- Article: REGULATORY PEPTIDES. 2005;127(1-3):45-53
- Article: NUCLEIC ACIDS RESEARCH (NAR). 2005;33(5):1671-1677
- Article: NUCLEIC ACIDS RESEARCH (NAR). 2005;33(1):439-447
- Article: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 2004;325(1):243-249
- Article: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 2004;318(4):927-934
- Article: ANTISENSE AND NUCLEIC ACID DRUG DEVELOPMENT. 2004;14(3):221-226
- Article: NUCLEIC ACIDS RESEARCH (NAR). 2003;31(14):e72
- Article: BIOCHEMICAL JOURNAL. 2002;364(Pt 1):73-79
- Article: BIOCHIMICA ET BIOPHYSICA ACTA: INTERNATIONAL JOURNAL OF BIOCHEMISTRY AND BIOPHYSICS. 2001;1538(2-3):206-217
- Article: BIOCHEMICAL JOURNAL. 2001;354(Pt 1):169-177
- Journal article: JOURNAL OF BIOLOGICAL CHEMISTRY. 1994;269(52):33179-33186
- Visa fler
Alla övriga publikationer
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:643
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:629
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:523-524
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:469
- Letter: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY. 2022;93(3):336-339
- Editorial comment: NEUROLOGY: GENETICS. 2021;7(6):e636
- Corrigendum: HEREDITARY CANCER IN CLINICAL PRACTICE. 2021;19(1):47
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):52-53
- Corrigendum: NATURE GENETICS. 2019;51(9):1423-1424
- Conference publication: NEUROLOGY. 2017;88
- Conference publication: JOURNAL OF NEUROCHEMISTRY. 2016;138:321
- Conference publication: JOURNAL OF NEUROCHEMISTRY. 2016;138:321
- Conference publication: JOURNAL OF NEUROCHEMISTRY. 2016;138:321-322
- Conference publication: JOURNAL OF NEUROCHEMISTRY. 2016;138:304-305
- Conference publication: EUROPEAN JOURNAL OF NEUROLOGY. 2016;23:917
- Corrigendum: NUCLEIC ACIDS RESEARCH (NAR). 2005;33(11):3698
Anställningar
- Anknuten till Forskning, Molekylär medicin och kirurgi, Karolinska Institutet, 2022-2025
Examina och utbildning
- Docent, Medicinsk genetik, Karolinska Institutet, 2024
Handledare
- Esmee ten Berk de Boer, 2023