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Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease Cannata Serio, Magda; Graham, Laurie A.; Ashikov, Angel; Larsen, Lars Elmann; Raymond, Kimiyo; Timal, Sharita; Le Meur, Gwenn; Ryan, Margret; Czarnowska, Elzbieta; Jansen, Jos C.; He, Miao; Ficicioglu, Can; Pichurin, Pavel; Hasadsri, Linda; Minassian, Berge; Rugierri, Alessandra; Kalimo, Hannu; Rios-Ocampo, W. Alfredo; Gilissen, Christian; Rodenburg, Richard; Jonker, Johan W.; Holleboom, Adriaan G.; Morava, Eva; Veltman, Joris A.; Socha, Piotr; Stevens, Tom H.; Simons, Matias; Lefeber, Dirk J. 分享 收藏
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Multi-infarct dementia of Swedish type is caused by a 3′UTR mutation of COL4A1 Siitonen, Maija; Borjesson-Hanson, Anne; Poyhonen, Minna; Ora, Ari; Pasanen, Petra; Bras, Jose; Kern, Silke; Kern, Jurgen; Andersen, Oluf; Stanescu, Horia; Kleta, Robert; Baumann, Marc; Kalaria, Rajesh; Kalimo, Hannu; Singleton, Andy; Hardy, John; Viitanen, Matti; Myllykangas, Liisa; Guerreiro, Rita 分享 收藏
Clusterin/Apolipoprotein J immunoreactivity is associated with white matter damage in cerebral small vessel diseases Craggs, L. J. L.; Taylor, J. L.; Slade, J. Y.; Chen, A.; Hagel, C.; Kuhlenbaeumer, G.; Borjesson-Hanson, A.; Viitanen, M.; Kalimo, H.; Deramecourt, V.; Oakley, A. E.; Kalaria, R. N. 分享 收藏
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CADASIL and CARASIL Tikka, Saara; Baumann, Marc; Siitonen, Maija; Pasanen, Petra; Poyhonen, Minna; Myllykangas, Liisa; Viitanen, Matti; Fukutake, Toshio; Cognat, Emmanuel; Joutel, Anne; Kalimo, Hannu 分享 收藏
White Matter Degeneration with Unverricht-Lundborg Progressive Myoclonus Epilepsy: A Translational Diffusion-Tensor Imaging Study in Patients and Cystatin B-Deficient Mice Manninen, Otto; Koskenkorva, Paivi; Lehtimaki, Kimmo K.; Hypponen, Jelena; Kononen, Mervi; Laitinen, Teemu; Kalimo, Hannu; Kopra, Outi; Kalviainen, Reetta; Grohn, Olli; Lehesjoki, Anna-Elina; Vanninen, Ritva 分享 收藏
The Arctic AβPP mutation leads to Alzheimer's disease pathology with highly variable topographic deposition of differentially truncated Aβ Kalimo, Hannu; Lalowski, Maciej; Bogdanovic, Nenad; Philipson, Ola; Bird, Thomas D.; Nochlin, David; Schellenberg, Gerard D.; Brundin, RoseMarie; Olofsson, Tommie; Soliymani, Rabah; Baumann, Marc; Wirths, Oliver; Bayer, Thomas A.; Nilsson, Lars N. G.; Basun, Hans; Lannfelt, Lars; Ingelsson, Martin 分享 收藏
Quantitative Vascular Pathology and Phenotyping Familial and Sporadic Cerebral Small Vessel Diseases Craggs, Lucinda J. L.; Hagel, Christian; Kuhlenbaeumer, Gregor; Borjesson-Hanson, Anne; Andersen, Oluf; Viitanen, Matti; Kalimo, Hannu; McLean, Catriona A.; Slade, Janet Y.; Hall, Roslyn A.; Oakley, Arthur E.; Yamamoto, Yumi; Deramecourt, Vincent; Kalaria, Rajesh N. 分享 收藏
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VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy Ramachandran, Nivetha; Munteanu, Iulia; Wang, Peixiang; Ruggieri, Alessandra; Rilstone, Jennifer J.; Israelian, Nyrie; Naranian, Taline; Paroutis, Paul; Guo, Ray; Ren, Zhi-Ping; Nishino, Ichizo; Chabrol, Brigitte; Pellissier, Jean-Francois; Minetti, Carlo; Udd, Bjarne; Fardeau, Michel; Tailor, Chetankumar S.; Mahuran, Don J.; Kissel, John T.; Kalimo, Hannu; Levy, Nicolas; Manolson, Morris F.; Ackerley, Cameron A.; Minassian, Berge A. 分享 收藏
CADASIL mutations and shRNA silencing of NOTCH3 affect actin organization in cultured vascular smooth muscle cells Tikka, Saara; Ng, Yan Peng; Di Maio, Giuseppe; Mykkanen, Kati; Siitonen, Maija; Lepikhova, Tatiana; Poyhonen, Minna; Viitanen, Matti; Virtanen, Ismo; Kalimo, Hannu; Baumann, Marc 分享 收藏
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene Kousi, Maria; Anttila, Verneri; Schulz, Angela; Calafato, Stella; Jakkula, Eveliina; Riesch, Erik; Myllykangas, Liisa; Kalimo, Hannu; Topcu, Meral; Gokben, Sarenur; Alehan, Fusun; Lemke, Johannes R.; Alber, Michael; Palotie, Aarno; Kopra, Outi; Lehesjoki, Anna-Elina 分享 收藏
Prolonged Myalgia in Sindbis Virus Infection: Case Description and In Vitro Infection of Myotubes and Myoblasts Sane, Jussi; Kurkela, Satu; Desdouits, Marion; Kalimo, Hannu; Mazalrey, Simon; Lokki, Marja-Liisa; Vaheri, Antti; Helve, Tapani; Tornwall, Jyrki; Huerre, Michel; Butler-Browne, Gillian; Ceccaldi, Pierre-Emmanuel; Gessain, Antoine; Vapalahti, Olli 分享 收藏
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The Arctic amyloid-β precursor protein (AβPP) mutation results in distinct plaques and accumulation of N- and C-truncated Aβ Philipson, Ola; Lord, Anna; Lalowski, Maciej; Soliymani, Rabah; Baumann, Marc; Thyberg, Johan; Bogdanovic, Nenad; Olofsson, Tommie; Tjernberg, Lars O.; Ingelsson, Martin; Lannfelt, Lars; Kalimo, Hannu; Nilsson, Lars N. G. 分享 收藏
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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD Renton, Alan E.; Majounie, Elisa; Waite, Adrian; Simon-Sanchez, Javier; Rollinson, Sara; Gibbs, J. Raphael; Schymick, Jennifer C.; Laaksovirta, Hannu; van Swieten, John C.; Myllykangas, Liisa; Kalimo, Hannu; Paetau, Anders; Abramzon, Yevgeniya; Remes, Anne M.; Kaganovich, Alice; Scholz, Sonja W.; Duckworth, Jamie; Ding, Jinhui; Harmer, Daniel W.; Hernandez, Dena G.; Johnson, Janel O.; Mok, Kin; Ryten, Mina; Trabzuni, Danyah; Guerreiro, Rita J.; Orrell, Richard W.; Neal, James; Murray, Alex; Pearson, Justin; Jansen, Iris E.; Sondervan, David; Seelaar, Harro; Blake, Derek; Young, Kate; Halliwell, Nicola; Callister, Janis Bennion; Toulson, Greg; Richardson, Anna; Gerhard, Alex; Snowden, Julie; Mann, David; Neary, David; Nalls, Michael A.; Peuralinna, Terhi; Jansson, Lilja; Isoviita, Veli-Matti; Kaivorinne, Anna-Lotta; Holtta-Vuori, Maarit; Ikonen, Elina; Sulkava, Raimo; Benatar, Michael; Wuu, Joanne; Chio, Adriano; Restagno, Gabriella; Borghero, Giuseppe; Sabatelli, Mario; Heckerman, David; Rogaeva, Ekaterina; Zinman, Lorne; Rothstein, Jeffrey D.; Sendtner, Michael; Drepper, Carsten; Eichler, Evan E.; Alkan, Can; Abdullaev, Ziedulla; Pack, Svetlana D.; Dutra, Amalia; Pak, Evgenia; Hardy, John; Singleton, Andrew; Williams, Nigel M.; Heutink, Peter; Pickering-Brown, Stuart; Morris, Huw R.; Tienari, Pentti J.; Traynor, Bryan J. 分享 收藏
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