Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Simone Olgiati"'
Autor:
Emil Lagumdzic, Clara Pernold, Marta Viano, Simone Olgiati, Michael W. Schmitt, Kerstin H. Mair, Armin Saalmüller
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
The pig has the potential to become a leading research model for human diseases, pharmacological and transplantation studies. Since there are many similarities between humans and pigs, especially concerning anatomy, physiology and metabolism, there i
Externí odkaz:
https://doaj.org/article/e75b6c4b25154afc9ded9346bd776870
Autor:
Lena Sagi-Dain, Martje G. Pauly, Chiung C. Chen, Niccolo E. Mencacci, Shey Lin Wu, Inge A. Meijer, Aida M. Bertoli-Avella, Krishna Kumar Kandaswamy, Steven J. Lubbe, Celeste Panteghini, Wim Mandemakers, Christine Klein, Nicolas Marotta, Katja Lohmann, Peter Bauer, Andrea A. Kühn, Baiba Lace, Vincenzo Bonifati, Tu Hsueh Yeh, Chin Song Lu, Miryam Carecchio, Antonio E. Elia, Christina Fevga, Yah Huei Wu-Chou, Yi Hsin Weng, Vera Tadic, Bradley Osterman, Marialuisa Quadri, Barbara Garavaglia, Simone Olgiati, Guido J. Breedveld, Jens Volkmann, Hsiu Chen Chang, Demy J.S. Kuipers
Publikováno v:
Annals of Neurology
Annals of Neurology, 89(3), 485-497. John Wiley & Sons Inc.
Annals of Neurology, 89(3), 485-497. John Wiley & Sons Inc.
Objective: The study was undertaken to identify a monogenic cause of early onset, generalized dystonia. Methods: Methods consisted of genome-wide linkage analysis, exome and Sanger sequencing, clinical neurological examination, brain magnetic resonan
Autor:
Marialuisa Quadri, Wim Mandemakers, Martyna M Grochowska, Roy Masius, Hanneke Geut, Edito Fabrizio, Guido J Breedveld, Demy Kuipers, Michelle Minneboo, Leonie J M Vergouw, Ana Carreras Mascaro, Ekaterina Yonova-Doing, Erik Simons, Tianna Zhao, Alessio B Di Fonzo, Hsiu-Chen Chang, Piero Parchi, Marta Melis, Leonor Correia Guedes, Chiara Criscuolo, Astrid Thomas, Rutger W W Brouwer, Daphne Heijsman, Angela M T Ingrassia, Giovanna Calandra Buonaura, Janneke P Rood, Sabina Capellari, Annemieke J Rozemuller, Marianna Sarchioto, Hsin Fen Chien, Nicola Vanacore, Simone Olgiati, Yah-Huei Wu-Chou, Tu-Hsueh Yeh, Agnita J W Boon, Susanne E Hoogers, Mehrnaz Ghazvini, Arne S IJpma, Wilfred F J van IJcken, Marco Onofrj, Paolo Barone, David J Nicholl, Andreas Puschmann, Michele De Mari, Anneke J Kievit, Egberto Barbosa, Giuseppe De Michele, Danielle Majoor-Krakauer, John C van Swieten, Frank J de Jong, Joaquim J Ferreira, Giovanni Cossu, Chin-Song Lu, Giuseppe Meco, Pietro Cortelli, Wilma D J van de Berg, Vincenzo Bonifati, Anneke J.A. Kievit, Agnita J.W. Boon, Janneke P.A Rood, Leonie J.M. Vergouw, Frank J. de Jong, John C. van Swieten, Francesco U.S. Mattace-Raso, Klaus L. Leenders, Joaquim J. Ferreira, Emil Ygland, Christer Nilsson, Hsin F. Chien, Laura Bannach Jardim, Carlos R.M. Rieder, Leonardo Lopiano, Cristina Tassorelli, Claudio Pacchetti, Giulio Riboldazzi, Giorgio Bono, Cristoforo Comi, Alessandro Padovani, Barbara Borroni, Francesco Raudino, Emiliana Fincati, Michele Tinazzi, Alberto Bonizzato, Carlo Ferracci, Alessio Dalla Libera, Giovanni Abbruzzese, Roberto Marconi, Marco Guidi, Giovanni Fabbrini, Alfredo Berardelli, Fabrizio Stocchi, Laura Vacca, Marina Picillo, Claudia Dell'Aquila, Gianni Iliceto, Vincenzo Toni, Giorgio Trianni, Monica Gagliardi, Grazia Annesi, Aldo Quattrone, Valeria Saddi, Gianni Cossu, Maurizio Melis
Publikováno v:
The Lancet Neurology, 17, 597-608. Lancet Publishing Group
The Lancet Neurology, 17(7), 597-608. Lancet Publishing Group
Lancet Neurology, 17(7), 597-608. Lancet Publishing Group
International Parkinsonism Genetics Network 2018, ' LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies : a genome-wide linkage and sequencing study ', The Lancet Neurology, vol. 17, no. 7, pp. 597-608 . https://doi.org/10.1016/S1474-4422(18)30179-0
The Lancet Neurology, 17(7), 597-608. Lancet Publishing Group
Lancet Neurology, 17(7), 597-608. Lancet Publishing Group
International Parkinsonism Genetics Network 2018, ' LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies : a genome-wide linkage and sequencing study ', The Lancet Neurology, vol. 17, no. 7, pp. 597-608 . https://doi.org/10.1016/S1474-4422(18)30179-0
Summary Background Most patients with Parkinson's disease, Parkinson's disease dementia, and dementia with Lewy bodies do not carry mutations in known disease-causing genes. The aim of this study was to identify a novel gene implicated in the develop
Autor:
Simone Olgiati, Anneke J.A. Kievit, Michiel Coesmans, Vincenzo Bonifati, Steven A. Kushner, Christian G. Bouwkamp, Guido J. Breedveld
Publikováno v:
American Journal of Medical Genetics Part B-Neuropsychiatric Genetics, 174(3), 214-219. Wiley-Liss Inc.
American Journal of Medical Genetics
American Journal of Medical Genetics
Affective psychoses are a group of severe psychiatric disorders, including schizoaffective disorder and bipolar I disorder, together affecting ∼1% of the population. Despite their high heritability, the molecular genetics and neurobiology of affect
Autor:
Josja Graafland, Gulin Sunter, Yunus Diler, Murat Gultekin, Zeynep Tufekcioglu, Esen Saka, Ayse Destina Yalcin, Tuğrul Doğan, Demy J.S. Kuipers, Vincenzo Bonifati, Murat Emre, Bulent Elibol, Marialuisa Quadri, Simone Olgiati, Başar Bilgiç, Reyhan Surmeli, Hakan Kaleagasi, Guido J. Breedveld, Okan Dogu, Hasmet Hanagasi
Publikováno v:
Parkinsonism & Related Disorders, 39, 64-70. Elsevier
Introduction Mutations in the C19orf12 gene cause mitochondrial membrane protein associated neurodegeneration (MPAN), an autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA). A limited number of patients with C19orf12 mut
Autor:
Grazia M.S. Mancini, Guido J. Breedveld, Murat Emre, Simone Olgiati, Wilfred F. J. van IJcken, Başar Bilgiç, Hasmet Hanagasi, Zeynep Tufekcioglu, Demy J.S. Kuipers, Marjolein H G Dremmen, Vincenzo Bonifati
Publikováno v:
Parkinsonism & Related Disorders, 66, 228-231. Elsevier
Objective Recessive mutations in the Gap Junction Protein Gamma 2 (GJC2) gene cause Pelizaeus-Merzbacher-like disease type 1, a severe infantile-onset hypomyelinating leukodystrophy. Milder, late-onset phenotypes including complicated spastic paraple
Autor:
Robert M.W. Hofstra, Matej Skorvanek, Zeliha Ozgur, Vincenzo Bonifati, Kees Schoonderwoerd, Simone Olgiati, Robert Jech, Frans W. Verheijen, Mirjam C G N van den Hout, Michelle Minneboo, Josja Graafland, Wim Mandemakers, Zuzana Gdovinova, Szu Chia Lai, Vladimir Han, Hsiu Chen Chang, Hsin Fen Chien, Ramon Bonte, Guido J. Breedveld, Tu Hsueh Yeh, Wilfred F. J. van IJcken, Marialuisa Quadri, Anneke J.A. Kievit, Egberto Reis Barbosa, Yah Huei Wu-Chou, George J. G. Ruijter, Chin Song Lu
Publikováno v:
Movement Disorders. 31:1041-1048
Background ECHS1 encodes a mitochondrial enzyme involved in the degradation of essential amino acids and fatty acids. Recently, ECHS1 mutations were shown to cause a new severe metabolic disorder presenting as Leigh or Leigh-like syndromes. The objec
Publikováno v:
Movement Disorders. 31:458-470
Several innovative and extremely powerful methods for sequencing nucleic acids (DNA and RNA), collectively known as next-generation sequencing technologies, have become available in the past few years. The application of these technologies is rapidly
Autor:
Guido J. Breedveld, Josja Graafland, Janneke P.M.A. Rood, Laura Bannach Jardim, Vincenzo Bonifati, Jianguo Zhang, Frans W. Verheijen, Wim Mandemakers, Egberto Reis Barbosa, Anneke J.A. Kievit, Jonas Alex Morales Saute, Christian G. Bouwkamp, Carlos Roberto de Mello Rieder, Klaus L. Leenders, Hsin Fen Chien, Agnita J.W. Boon, Marialuisa Quadri, Michelle Minneboo, Jun Wang, Mingyan Fang, Simone Olgiati
Publikováno v:
Annals of Neurology. 79:244-256
Objective DNAJC6 mutations were recently described in two families with autosomal recessive juvenile parkinsonism (onset age
Autor:
Michiel Coesmans, Najaf Amin, Christian G. Bouwkamp, Aviva Nijburg, Timothy Wu, Maarouf Baghdadi, H. Berna Beverloo, Nilhan Gunhanlar, Guido J. Breedveld, Bas Lendemeijer, Veerle Bergink, P. Roberto Bakker, Carolyn D. Langen, Edwin Mientjes, Witte J.G. Hoogendijk, Ype Elgersma, Frans W. Verheijen, A.T. Spijker, André G. Uitterlinden, Simone Olgiati, Femke M.S. de Vrij, M. Arfan Ikram, Ton de Wit, Vincenzo Bonifati, Henning Tiemeier, Loes M. Olde Loohuis, Dan Cohen, Cornelia M. van Duijn, Rob M. Kok, Guy Shpak, Mehrnaz Ghazvini, Tonya White, P. M. Judith Haffmans, Meike W. Vernooij, Tracy Li, Erik Hoencamp, Marialuisa Quadri, Albert Hofman, Ben Distel, Joost Gribnau, Shreekara Gopalakrishna, Steven A. Kushner, Jacob A. S. Vorstman
Publikováno v:
Molecular Psychiatry, 24(5), 757-771. Nature Publishing Group
Molecular psychiatry, 24, 757-771. Nature Publishing Group
Molecular Psychiatry
Molecular psychiatry, 24, 757-771. Nature Publishing Group
Molecular Psychiatry
Schizophrenia is highly heritable, yet its underlying pathophysiology remains largely unknown. Among the most well-replicated findings in neurobiological studies of schizophrenia are deficits in myelination and white matter integrity; however, direct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e47c11de95e90cc589d840a6752d3ce2
https://pure.eur.nl/en/publications/995aa584-ec6f-4e06-81d1-54836f7e439e
https://pure.eur.nl/en/publications/995aa584-ec6f-4e06-81d1-54836f7e439e