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332 results on '"Jokinen A"'

9. In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration

Author

Hytönen, Marjo K., Sarviaho, Riika, Jackson, Christopher B., Syrjä, Pernilla, Jokinen, Tarja, Matiasek, Kaspar, Rosati, Marco, Dallabona, Cristina, Baruffini, Enrico, Quintero, Ileana, Arumilli, Meharji, Monteuuis, Geoffray, Donner, Jonas, Anttila, Marjukka, Suomalainen, Anu, Bindoff, Laurence A., and Lohi, Hannes

Published
2021
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22. Designing Gesture-Based Control for Factory Automation

Author

Heimonen, Tomi, Hakulinen, Jaakko, Turunen, Markku, Jokinen, Jussi P. P., Keskinen, Tuuli, Raisamo, Roope, Hutchison, David, editor, Kanade, Takeo, editor, Kittler, Josef, editor, Kleinberg, Jon M., editor, Mattern, Friedemann, editor, Mitchell, John C., editor, Naor, Moni, editor, Nierstrasz, Oscar, editor, Pandu Rangan, C., editor, Steffen, Bernhard, editor, Sudan, Madhu, editor, Terzopoulos, Demetri, editor, Tygar, Doug, editor, Vardi, Moshe Y., editor, Weikum, Gerhard, editor, Kotzé, Paula, editor, Marsden, Gary, editor, Lindgaard, Gitte, editor, Wesson, Janet, editor, and Winckler, Marco, editor

Published
2013
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23. Multimodal Feedback in First Encounter Interactions

Author

Jokinen, Kristiina, Hutchison, David, editor, Kanade, Takeo, editor, Kittler, Josef, editor, Kleinberg, Jon M., editor, Mattern, Friedemann, editor, Mitchell, John C., editor, Naor, Moni, editor, Nierstrasz, Oscar, editor, Pandu Rangan, C., editor, Steffen, Bernhard, editor, Sudan, Madhu, editor, Terzopoulos, Demetri, editor, Tygar, Doug, editor, Vardi, Moshe Y., editor, Weikum, Gerhard, editor, and Kurosu, Masaaki, editor

Published
2013
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24. Evaluation of WikiTalk – User Studies of Human-Robot Interaction

Author

Anastasiou, Dimitra, Jokinen, Kristiina, Wilcock, Graham, Hutchison, David, editor, Kanade, Takeo, editor, Kittler, Josef, editor, Kleinberg, Jon M., editor, Mattern, Friedemann, editor, Mitchell, John C., editor, Naor, Moni, editor, Nierstrasz, Oscar, editor, Pandu Rangan, C., editor, Steffen, Bernhard, editor, Sudan, Madhu, editor, Terzopoulos, Demetri, editor, Tygar, Doug, editor, Vardi, Moshe Y., editor, Weikum, Gerhard, editor, and Kurosu, Masaaki, editor

Published
2013
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26. Hesitation in Intercultural Communication: Some Observations and Analyses on Interpreting Shoulder Shrugging

Author

Jokinen, Kristiina, Allwood, Jens, Hutchison, David, Series editor, Kanade, Takeo, Series editor, Kittler, Josef, Series editor, Kleinberg, Jon M., Series editor, Mattern, Friedemann, Series editor, Mitchell, John C., Series editor, Naor, Moni, Series editor, Nierstrasz, Oscar, Series editor, Pandu Rangan, C., Series editor, Steffen, Bernhard, Series editor, Sudan, Madhu, Series editor, Terzopoulos, Demetri, Series editor, Tygar, Doug, Series editor, Vardi, Moshe Y., Series editor, Weikum, Gerhard, Series editor, and Ishida, Toru, editor

Published
2010
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27. Rational Communication and Affordable Natural Language Interaction for Ambient Environments

Author

Jokinen, Kristiina, Hutchison, David, Series editor, Kanade, Takeo, Series editor, Kittler, Josef, Series editor, Kleinberg, Jon M., Series editor, Mattern, Friedemann, Series editor, Mitchell, John C., Series editor, Naor, Moni, Series editor, Nierstrasz, Oscar, Series editor, Pandu Rangan, C., Series editor, Steffen, Bernhard, Series editor, Sudan, Madhu, Series editor, Terzopoulos, Demetri, Series editor, Tygar, Doug, Series editor, Vardi, Moshe Y., Series editor, Weikum, Gerhard, Series editor, Goebel, Randy, editor, Siekmann, Jörg, editor, Wahlster, Wolfgang, editor, Lee, Gary Geunbae, editor, Mariani, Joseph, editor, Minker, Wolfgang, editor, and Nakamura, Satoshi, editor

Published
2010
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28. Pointing Gestures and Synchronous Communication Management

Author

Jokinen, Kristiina, Hutchison, David, Series editor, Kanade, Takeo, Series editor, Kittler, Josef, Series editor, Kleinberg, Jon M., Series editor, Mattern, Friedemann, Series editor, Mitchell, John C., Series editor, Naor, Moni, Series editor, Nierstrasz, Oscar, Series editor, Pandu Rangan, C., Series editor, Steffen, Bernhard, Series editor, Sudan, Madhu, Series editor, Terzopoulos, Demetri, Series editor, Tygar, Doug, Series editor, Vardi, Moshe Y., Series editor, Weikum, Gerhard, Series editor, Esposito, Anna, editor, Campbell, Nick, editor, Vogel, Carl, editor, Hussain, Amir, editor, and Nijholt, Anton, editor

Published
2010
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29. Gaze and Gesture Activity in Communication

Author

Jokinen, Kristiina, Hutchison, David, Series editor, Kanade, Takeo, Series editor, Kittler, Josef, Series editor, Kleinberg, Jon M., Series editor, Mattern, Friedemann, Series editor, Mitchell, John C., Series editor, Naor, Moni, Series editor, Nierstrasz, Oscar, Series editor, Pandu Rangan, C., Series editor, Steffen, Bernhard, Series editor, Sudan, Madhu, Series editor, Terzopoulos, Demetri, Series editor, Tygar, Doug, Series editor, Vardi, Moshe Y., Series editor, Weikum, Gerhard, Series editor, and Stephanidis, Constantine, editor

Published
2009
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31. Distinguishing the Communicative Functions of Gestures : An Experiment with Annotated Gesture Data

Author

Jokinen, Kristiina, Navarretta, Costanza, Paggio, Patrizia, Hutchison, David, editor, Kanade, Takeo, editor, Kittler, Josef, editor, Kleinberg, Jon M., editor, Mattern, Friedemann, editor, Mitchell, John C., editor, Naor, Moni, editor, Nierstrasz, Oscar, editor, Pandu Rangan, C., editor, Steffen, Bernhard, editor, Sudan, Madhu, editor, Terzopoulos, Demetri, editor, Tygar, Doug, editor, Vardi, Moshe Y., editor, Weikum, Gerhard, editor, Popescu-Belis, Andrei, editor, and Stiefelhagen, Rainer, editor

Published
2008
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32. Usability in Location-Based Services: Context and Mobile Map Navigation

Author

Jokinen, Kristiina, Hutchison, David, editor, Kanade, Takeo, editor, Kittler, Josef, editor, Kleinberg, Jon M., editor, Mattern, Friedemann, editor, Mitchell, John C., editor, Naor, Moni, editor, Nierstrasz, Oscar, editor, Pandu Rangan, C., editor, Steffen, Bernhard, editor, Sudan, Madhu, editor, Terzopoulos, Demetri, editor, Tygar, Doug, editor, Vardi, Moshe Y., editor, Weikum, Gerhard, editor, and Stephanidis, Constantine, editor

Published
2007
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34. Laser spectroscopy of stable Os isotopes

Author

Avgoulea, M., Mahgoub, M., Billowes, J., Campbell, P., Ezwam, A., Forest, D. H., Gardner, M., Huikari, J., Jokinen, A., Nieminen, A., Tungate, G., Äystö, J., Błaszczak, Z., editor, Markov, B., editor, and Marinova, K., editor

Published
2007
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37. Laser Ion Source Project at IGISOL

Author

Nieminen, A., Moore, I. D., Billowes, J., Campbell, P., Flanagan, K. T., Geppert, Ch., Huikari, J., Jokinen, A., Kessler, T., Marsh, B., Penttilä, H., Rinta-Antila, S., Tordoff, B., Wendt, K. D. A., Äystö, J., Błaszczak, Z., editor, Markov, B., editor, and Marinova, K., editor

Published
2006
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42. New structure information on 30Mg, 31Mg and 32Mg

Author

ISOLDE Collaboration, Mach, H., Fraile, L. M., Tengblad, O., Boutami, R., Jollet, C., Płóciennik, W. A., Yordanov, D. T., Stanoiu, M., Borge, M. J. G., Butler, P. A., Cederkäll, J., Dessagne, Ph., Fogelberg, B., Fynbo, H., Hoff, P., Jokinen, A., Korgul, A., Köster, U., Kurcewicz, W., Marechal, F., Motobayashi, T., Mrazek, J., Neyens, G., Nilsson, T., Pedersen, S., Poves, A., Rubio, B., Ruchowska, E., Gross, Carl J., editor, Nazarewicz, Witold, editor, and Rykaczewski, Krzysztof P., editor

Published
2005
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44. In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration

Author

Hannes Lohi, Anu Suomalainen, Marjo K. Hytönen, Kaspar Matiasek, Meharji Arumilli, Ileana B. Quintero, Enrico Baruffini, Tarja S. Jokinen, Jonas Donner, Geoffray Monteuuis, Marjukka Anttila, Cristina Dallabona, Laurence A. Bindoff, Christopher B. Jackson, Marco Rosati, Pernilla Syrjä, Riika Sarviaho, Medicum, Department of Medical and Clinical Genetics, Veterinary Biosciences, STEMM - Stem Cells and Metabolism Research Program, Veterinary Genetics, Department of Biochemistry and Developmental Biology, Veterinary Pathology and Parasitology, Antti Sukura / Principal Investigator, Helsinki One Health (HOH), Departments of Faculty of Veterinary Medicine, Equine and Small Animal Medicine, Institute for Molecular Medicine Finland, Hannes Tapani Lohi / Principal Investigator, Department of Neurosciences, Anu Wartiovaara / Principal Investigator, HUSLAB, Haartman Institute (-2014), and Biosciences

Subjects
Male, medicine.medical_specialty, Respiratory chain, Status epilepticus, Saccharomyces cerevisiae, Grey matter, Biology, medicine.disease_cause, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Dogs, Oxygen Consumption, Internal medicine, Genetics, medicine, Animals, Dog Diseases, Genetics (clinical), 030304 developmental biology, Original Investigation, 0303 health sciences, Mutation, Amyloid beta-Peptides, Neurodegeneration, 1184 Genetics, developmental biology, physiology, Brain, Metalloendopeptidases, Neurodegenerative Diseases, medicine.disease, Disease gene identification, 3. Good health, Mitochondria, Pedigree, medicine.anatomical_structure, Endocrinology, Spinocerebellar ataxia, Female, medicine.symptom, 030217 neurology & neurosurgery
Abstract

We investigated the clinical, genetic, and pathological characteristics of a previously unknown severe juvenile brain disorder in several litters of Parson Russel Terriers. The disease started with epileptic seizures at 6 to 12 weeks of age and progressed rapidly to status epilepticus and death or euthanasia. Histopathological changes at autopsy were restricted to the brain. There was severe acute neuronal degeneration and necrosis diffusely affecting the grey matter throughout the brain with extensive intraneuronal mitochondrial crowding and accumulation of amyloid-β (Aβ). Combined homozygosity mapping and genome sequencing revealed an in-frame 6-bp deletion in the nuclear-encoded pitrilysin metallopeptidase 1 (PITRM1) encoding for a mitochondrial protease involved in mitochondrial targeting sequence processing and degradation. The 6-bp deletion results in the loss of two amino acid residues in the N-terminal part of PITRM1, potentially affecting protein folding and function. Assessment of the mitochondrial function in the affected brain tissue showed a significant deficiency in respiratory chain function. The functional consequences of the mutation were modeled in yeast and showed impaired growth in permissive conditions and an impaired respiration capacity. Loss-of-function variants in human PITRM1 result in a childhood-onset progressive amyloidotic neurological syndrome characterized by spinocerebellar ataxia with behavioral, psychiatric and cognitive abnormalities. Homozygous Pitrm1-knockout mice are embryonic lethal, while heterozygotes show a progressive, neurodegenerative phenotype characterized by impairment in motor coordination and Aβ deposits. Our study describes a novel early-onset PITRM1-related neurodegenerative canine brain disorder with mitochondrial dysfunction, Aβ accumulation, and lethal epilepsy. The findings highlight the essential role of PITRM1 in neuronal survival and strengthen the connection between mitochondrial dysfunction and neurodegeneration.

Published
2021

45. Adaptive User Modelling in AthosMail

Author

Jokinen, Kristiina, Kanto, Kari, Rissanen, Jyrki, Hutchison, David, editor, Kanade, Takeo, editor, Kittler, Josef, editor, Kleinberg, Jon M., editor, Mattern, Friedemann, editor, Mitchell, John C., editor, Naor, Moni, editor, Nierstrasz, Oscar, editor, Pandu Rangan, C., editor, Steffen, Bernhard, editor, Sudan, Madhu, editor, Terzopoulos, Demetri, editor, Tygar, Dough, editor, Vardi, Moshe Y., editor, Weikum, Gerhard, editor, Stary, Christian, editor, and Stephanidis, Constantine, editor

Published
2004
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49. Performance of IGISOL 3

Author

Penttilä, H., Billowes, J., Campbell, P., Dendooven, P., Elomaa, V. -V., Eronen, T., Hager, U., Hakala, J., Huikari, J., Jokinen, A., Kankainen, A., Karvonen, P., Kopecky, S., Marsh, B., Moore, I., Nieminen, A., Popov, A., Rinta-Antila, S., Wang, Y., Äystö, J., Gross, Carl J., editor, Nazarewicz, Witold, editor, and Rykaczewski, Krzysztof P., editor

Published
2005
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50. Mass measurement on the rp-process waiting point 72Kr

Author

Rodríguez, D., Kolhinen, V. S., Audi, G., Äystö, J., Beck, D., Blaum, K., Bollen, G., Herfurth, F., Jokinen, A., Kellerbauer, A., Kluge, H. -J., Oinonen, M., Schatz, H., Sauvan, E., Schwarz, S., Gross, Carl J., editor, Nazarewicz, Witold, editor, and Rykaczewski, Krzysztof P., editor

Published
2005
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