Zobrazeno 1 - 10
of 475
pro vyhledávání: '"Hannu, Kalimo"'
Autor:
Rikesh M. Rajani, Julien Ratelade, Valérie Domenga-Denier, Yoshiki Hase, Hannu Kalimo, Raj N. Kalaria, Anne Joutel
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-14 (2019)
Abstract Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic paradigm of small vessel disease (SVD) caused by NOTCH3 mutations that stereotypically lead to the vascular accumulation of NOT
Externí odkaz:
https://doaj.org/article/6ffdfc0c91ff45dfad7b2368eaf0bb03
Autor:
Elzbieta Czarnowska, Magda Cannata Serio, Pavel Pichurin, Sharita Timal, Jos C. Jansen, Hannu Kalimo, Adriaan G. Holleboom, Can Ficicioglu, Margret Ryan, Johan W. Jonker, Richard J. Rodenburg, Linda Hasadsri, Angel Ashikov, Christian Gilissen, Miao He, W. Alfredo Ríos-Ocampo, Matias Simons, Lars E. Larsen, Dirk Lefeber, Berge A. Minassian, Alessandra Rugierri, Joris A. Veltman, Tom H. Stevens, Gwenn Le Meur, Eva Morava, Piotr Socha, Kimiyo Raymond, Laurie A. Graham
Publikováno v:
Hepatology (Baltimore, Md.)
Hepatology (Baltimore, Md.), 72(6), 1968-1986. John Wiley and Sons Ltd
Hepatology, 72, 6, pp. 1968-1986
Hepatology, 72(6), 1968-1986. Wiley
Hepatology, 72, 1968-1986
Hepatology
Hepatology (Baltimore, Md.), 72(6), 1968-1986. John Wiley and Sons Ltd
Hepatology, 72, 6, pp. 1968-1986
Hepatology, 72(6), 1968-1986. Wiley
Hepatology, 72, 1968-1986
Hepatology
Background and Aims Vacuolar H+-ATP complex (V-ATPase) is a multisubunit protein complex required for acidification of intracellular compartments. At least five different factors are known to be essential for its assembly in the endoplasmic reticulum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db692db53432f9043d5a54c01ef20dcb
https://hdl.handle.net/2066/230139
https://hdl.handle.net/2066/230139
Publikováno v:
Amyloid. 27:81-88
AGel amyloidosis is a dominantly inherited systemic amyloidosis caused by mutations p.D214N or p.D214Y resulting in gelsolin amyloid (AGel) formation. AGel accumulates extracellularly in many tissues and alongside elastic fibres. AGel deposition asso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bee3a2e58d58672af1f800f26a01ea5b
https://doi.org/10.1080/13506129.2019.1699785
https://doi.org/10.1080/13506129.2019.1699785
Publikováno v:
Neurobiology of Disease, Vol 8, Iss 4, Pp 707-716 (2001)
Parkinson's disease (PD) is a brain degenerative disorder with unknown etiology, and specific degeneration of mesencephalic dopaminergic cells is a morphological manifestation of the disease. The central histaminergic system appears to be activated i
Externí odkaz:
https://doaj.org/article/f4a0360b783c485d8c89e7e9ad580b92
Autor:
John Hardy, Anne Börjesson-Hanson, Silke Kern, Rajesh N. Kalaria, Ari Ora, Minna Pöyhönen, Petra Pasanen, Liisa Myllykangas, Hannu Kalimo, Marc Baumann, AB Singleton, Maija Siitonen, Robert Kleta, Horia Stanescu, Jürgen Kern, Matti Viitanen, Oluf Andersen, Jose Bras, Rita Guerreiro
Publikováno v:
BRAIN. 140(5):1-4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c53a914f054c6068bc8baa93a41e9c9
https://doi.org/10.1093/brain/awx062
https://doi.org/10.1093/brain/awx062
Autor:
Marc Baumann, Tuula Salo, Juha Risteli, Susanna Koskelainen, Hannu Kalimo, Sari Kiuru-Enari, Sinikka Suominen, Tiia Pihlamaa, Fang Zhao
Publikováno v:
APMIS. 124:639-648
Hereditary gelsolin amyloidosis (HGA) is a dominantly inherited systemic disease reported worldwide. HGA is characterized by ophthalmological, neurological, and dermatological manifestations. AGel amyloid accumulates at basal lamina of epithelial and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de96b79e1b8cb190797bfc9bb563aa07
https://doi.org/10.1111/apm.12554
https://doi.org/10.1111/apm.12554
Publikováno v:
Neuromuscular Disorders. 27:185-187
X-linked myopathy with excessive autophagy (XMEA), caused by mutations of the VMA21 gene, is a strictly skeletal muscle disease. Extensive studies in yeast established VMA21 as the master assembly chaperone of V-ATPase, the complex multisubunit proto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d361dbb67a4dc0b4f113f6d0be8e5855
https://doi.org/10.1016/j.nmd.2016.10.007
https://doi.org/10.1016/j.nmd.2016.10.007
Autor:
Aiqing Chen, Julie L. Taylor, Raj N. Kalaria, Lucinda J. L. Craggs, Christian Hagel, Hannu Kalimo, Gregor Kuhlenbaeumer, Matti Viitanen, Vincent Deramecourt, Anne Börjesson-Hanson, Arthur E. Oakley, Janet Y. Slade
Publikováno v:
Neuropathology and Applied Neurobiology. 42:194-209
Aim Brain clusterin is known to be associated with the amyloid-β deposits in Alzheimer's disease (AD). We assessed the distribution of clusterin immunoreactivity in cerebrovascular disorders, particularly focusing on white matter changes in small ve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::97253622a403ebda0e51a5f504bdc2d3
https://doi.org/10.1111/nan.12248
https://doi.org/10.1111/nan.12248
Autor:
Bjarne Udd, Hannu Kalimo, Juhani Airaksinen, Nivetha Ramachandran, Berge A. Minassian, I. Munteanu, Antti Saraste, Juha Koskenvuo, Sanna Huovinen
Publikováno v:
Neuromuscular Disorders. 25:485-487
In X-linked myopathy with excessive autophagy (XMEA) progressive sarcoplasmic accumulation of autolysosomes filled with undegraded debris leads to atrophy and weakness of skeletal muscles. XMEA is caused by compromised acidification of lysosomes resu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac0d93df1e526b1ddd9a222bbb754024
https://doi.org/10.1016/j.nmd.2015.03.003
https://doi.org/10.1016/j.nmd.2015.03.003
Autor:
Otto Manninen, Ritva Vanninen, Jelena Hyppönen, Outi Kopra, Päivi Koskenkorva, Anna-Elina Lehesjoki, Kimmo K. Lehtimäki, Teemu Laitinen, Mervi Könönen, Olli Gröhn, Reetta Kälviäinen, Hannu Kalimo
Publikováno v:
Radiology. 269:232-239
To study white matter (WM) changes in patients with Unverricht-Lundborg progressive myoclonus epilepsy (EPM1) caused by mutations in the cystatin B gene and in the cystatin B-deficient (Cstb-/-) mouse model and to validate imaging findings with histo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a4b8331bddc5571eea760a1bf90ee12
https://doi.org/10.1148/radiol.13122458
https://doi.org/10.1148/radiol.13122458