Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Hannah S. Bakels"'
Autor:
Antonella Tramutola, Hannah S. Bakels, Federica Perrone, Michela Di Nottia, Tommaso Mazza, Maria Pia Abruzzese, Martina Zoccola, Sara Pagnotta, Rosalba Carrozzo, Susanne T. de Bot, Marzia Perluigi, Willeke M.C. van Roon-Mom, Ferdinando Squitieri
Publikováno v:
EBioMedicine, Vol 97, Iss , Pp 104849- (2023)
Summary: Background: Paediatric Huntington disease with highly expanded mutations (HE-PHD; >80 CAG repeats) presents atypically, compared to adult-onset Huntington disease (AOHD), with neurodevelopmental delay, epilepsy, abnormal brain glucose metabo
Externí odkaz:
https://doaj.org/article/bf53d834ee3e4863abcbe577f9dd1d74
Publikováno v:
Movement Disorders, 37(1), 16-24. WILEY
Huntington disease is an autosomal dominant inherited brain disorder that typically becomes manifest in adulthood. Juvenile-onset Huntington disease refers to approximately 5% of patients with symptom onset before the age of 21 years. The causal fact
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::feb3d3b9553748c09ee788064d2ee993
https://doi.org/10.1002/mds.28823
https://doi.org/10.1002/mds.28823
Publikováno v:
Acta neuropathologica.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::34fe2c76919875e12ed449cc256d8551
https://pubmed.ncbi.nlm.nih.gov/36335527
https://pubmed.ncbi.nlm.nih.gov/36335527
The cavernous sinus in cluster headache - a quantitative structural magnetic resonance imaging study
Autor:
Guus G. Schoonman, Jorine A van Vliet, Joost Haan, Enrico B Arkink, Mark C. Kruit, Michel D. Ferrari, Hannah S. Bakels, Marjolein Am Sneeboer, Mark A. van Buchem
Publikováno v:
Cephalalgia, 37(3), 208-213
Background It has been hypothesized that a constitutionally narrow cavernous sinus might predispose individuals to cluster headache. Cavernous sinus dimensions, however, have never been assessed. Methods In this case–control study, we measured the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a29aeff9ad378fce57f787285d84ea50
https://hdl.handle.net/1887/114342
https://hdl.handle.net/1887/114342
Publikováno v:
Journal of Neuro-Oncology, 120(2), 267-272. Kluwer Academic
Hot spot mutations in the promoter region of telomerase reverse transcriptase (TERT promoter mutations) occur frequently in tumors of neuroectodermal origin such as melanoma and glioma. Many of these tumors are of neuroectodermal or ectomesenchymal o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a22e463e0532602236f68e6f7c35c0b3
https://doi.org/10.1007/s11060-014-1553-8
https://doi.org/10.1007/s11060-014-1553-8
Autor:
Chantal Ceuterick-de Groote, Hans W.M. Niessen, Marianna Bugiani, Hannah S. Bakels, Saskia A J Lesnik Oberstein, Marjo S. van der Knaap, Sietske H. Kevelam, Quinten Waisfisz, Truus E.M. Abbink
Publikováno v:
Neurology, 87(17), 1777-1786. Lippincott Williams and Wilkins
Neurology
Bugiani, M, Kevelam, S H, Bakels, H S, Waisfisz, Q, Ceuterick-de Groote, C, Niessen, H W M, Abbink, T E M, Oberstein, S A M J L & van der Knaap, M S 2016, ' Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL) ', Neurology, vol. 87, no. 17, pp. 1777-1786 . https://doi.org/10.1212/WNL.0000000000003251
Neurology
Bugiani, M, Kevelam, S H, Bakels, H S, Waisfisz, Q, Ceuterick-de Groote, C, Niessen, H W M, Abbink, T E M, Oberstein, S A M J L & van der Knaap, M S 2016, ' Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL) ', Neurology, vol. 87, no. 17, pp. 1777-1786 . https://doi.org/10.1212/WNL.0000000000003251
OBJECTIVE: To characterize the clinical and MRI features of 2 families with adult-onset dominant leukoencephalopathy and strokes and identify the underlying genetic cause.METHODS: We applied MRI pattern recognition, whole-exome sequencing, and neurop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f287f88cd971fdbb1ca01fff9bdc01d3
https://research.vumc.nl/en/publications/343f8486-aae1-47cc-86c7-d0c5d67ac15c
https://research.vumc.nl/en/publications/343f8486-aae1-47cc-86c7-d0c5d67ac15c
Autor:
Marjo S. van der Knaap, Melanie D. Klok, Rosalina M. L. van Spaendonk, Nienke L. Postma, Hannah S. Bakels, Marianna Bugiani
Publikováno v:
Annals of Clinical and Translational Neurology, 2(7), 774-779. John Wiley and Sons Ltd
Annals of Clinical and Translational Neurology
Klok, M D, Bakels, H S, Postma, N L, van Spaendonk, R M L, van der Knaap, M S & Bugiani, M 2015, ' Interferon-alpha and the calcifying microangiopathy in Aicardi-Goutieres syndrome ', Annals of Clinical and Translational Neurology, vol. 2, no. 7, pp. 774-779 . https://doi.org/10.1002/acn3.213
Annals of clinical and translational neurology, 2(7), 774-779. John Wiley and Sons Ltd
Annals of Clinical and Translational Neurology
Klok, M D, Bakels, H S, Postma, N L, van Spaendonk, R M L, van der Knaap, M S & Bugiani, M 2015, ' Interferon-alpha and the calcifying microangiopathy in Aicardi-Goutieres syndrome ', Annals of Clinical and Translational Neurology, vol. 2, no. 7, pp. 774-779 . https://doi.org/10.1002/acn3.213
Annals of clinical and translational neurology, 2(7), 774-779. John Wiley and Sons Ltd
Aicardi-Goutieres syndrome is a leukoencephalopathy with calcifications and increased cerebrospinal fluid interferon-alpha. The relation between interferon-alpha and brain pathology is poorly understood. We report a patient with mutations in the dise
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d9569015780c361413154cc2c67240e
https://research.vumc.nl/en/publications/04bd4347-8fb8-4859-a76e-2be0f1ef8180
https://research.vumc.nl/en/publications/04bd4347-8fb8-4859-a76e-2be0f1ef8180