Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Demy J.S. Kuipers"'
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:
Pankaj A. Agarwal, Demy J.S. Kuipers, Christina Fevga, Shruti Agrawal, Sangeeta H. Ravat, Guido J. Breedveld, Kapil Sethi, Vincenzo Bonifati
Publikováno v:
Movement Disorders, 37(10), 2166-2167. John Wiley & Sons Inc.
Autor:
Matej Skorvanek, Irena Rektorova, Wim Mandemakers, Matias Wagner, Robert Steinfeld, Laura Orec, Vladimir Han, Petra Pavelekova, Alexandra Lackova, Kristina Kulcsarova, Miriam Ostrozovicova, Zuzana Gdovinova, Barbara Plecko, Theresa Brunet, Riccardo Berutti, Demy J.S. Kuipers, Valerie Boumeester, Petra Havrankova, M.A.J. Tijssen, Rauan Kaiyrzhanov, Mie Rizig, Henry Houlden, Juliane Winkelmann, Vincenzo Bonifati, Michael Zech, Robert Jech
Publikováno v:
Parkinsonism and Related Disorders, 94, 54-61. Elsevier
Parkinsonism & Related Disorders, 94, 54-61. Elsevier
Parkinsonism & Related Disorders, 94, 54-61. Elsevier
Introduction: Sixteen subjects with biallelic WARS2 variants encoding the tryptophanyl mitochondrial aminoacyl-tRNA synthetase, presenting with a neonatal- or infantile-onset mitochondrial disease, have been reported to date. Here we present six nove
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74bec6141274e44c857e824204614322
https://pure.eur.nl/en/publications/f112d057-d2a9-4cfc-9355-98b5f603ffa9
https://pure.eur.nl/en/publications/f112d057-d2a9-4cfc-9355-98b5f603ffa9
Autor:
Hanneke Geut, John C. van Swieten, Vincenzo Bonifati, Annemieke J.M. Rozemuller, Guido J. Breedveld, Frank Jan de Jong, Leonie J.M. Vergouw, Wilma D.J. van de Berg, Netherlands Brain Bank, Demy J.S. Kuipers, Marialuisa Quadri
Publikováno v:
Netherlands Brain Bank 2020, ' Clinical and Pathological Phenotypes of LRP10 Variant Carriers with Dementia ', Journal of Alzheimer's disease : JAD, vol. 76, no. 3, pp. 1161-1170 . https://doi.org/10.3233/JAD-200318, https://doi.org/10.3233/JAD-200318
Journal of Alzheimer's Disease, 76(3), 1161-1170. IOS Press BV
Journal of Alzheimer's Disease
Journal of Alzheimer's Disease, 76, 1161-1170. IOS Press
Journal of Alzheimer's disease : JAD, 76(3), 1161-1170. IOS Press
Journal of Alzheimer's Disease, 76(3), 1161-1170. IOS Press BV
Journal of Alzheimer's Disease
Journal of Alzheimer's Disease, 76, 1161-1170. IOS Press
Journal of Alzheimer's disease : JAD, 76(3), 1161-1170. IOS Press
Background: Rare variants in the low-density lipoprotein receptor related protein 10 gene (LRP10) have recently been implicated in the etiology of Parkinson’s disease (PD) and dementia with Lewy bodies (DLB). Objective: We searched for LRP10 varian
Autor:
Vincenzo Bonifati, Jonathan Carr, Rick van Minkelen, Wilfred F. J. van IJcken, Guido J. Breedveld, Demy J.S. Kuipers, Rutger W W Brouwer, Boiketlo Sebate, Marialuisa Quadri, Pearl Thomas, Marjon van Slegtenhorst, Soraya Bardien
Publikováno v:
Movement Disorders. 33:1814-1819
Background The genetic bases of PD in sub-Saharan African (SSA) populations remain poorly characterized, and analysis of SSA families with PD might lead to the discovery of novel disease-related genes. Objectives To investigate the clinical features
Autor:
Leonie J.M. Vergouw, Li-San Wang, Guido J. Breedveld, Vincenzo Bonifati, Marialuisa Quadri, Gerard D. Schellenberg, Wang Z. Chiu, John C. van Swieten, Frank Jan de Jong, Adam C. Naj, Agnita J.W. Boon, Dennis W. Dickson, Shamiram Melhem, Owen A. Ross, Demy J.S. Kuipers, Elizabeth Mlynarksi, Laura Donker Kaat, Laura B. Cantwell
Publikováno v:
Neurobiol Aging
Neurobiology of Aging, 94. Elsevier Inc.
Neurobiology of Aging, 94. Elsevier Inc.
The aim of this study was to explore whether variants in LRP10, recently associated with Parkinson's disease and dementia with Lewy bodies, are observed in 2 large cohorts (discovery and validation cohort) of patients with progressive supranuclear pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::126b5755ee761ed3c28c290fb5e8a465
https://europepmc.org/articles/PMC8281359/
https://europepmc.org/articles/PMC8281359/
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:
Ilaria Taglia, Maria Teresa Dotti, Andrea Mignarri, Guido J. Breedveld, Antonio Federico, Demy J.S. Kuipers, Vincenzo Bonifati
Publikováno v:
Parkinsonism & Related Disorders, 67, 24-26. Elsevier
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
Publikováno v:
The Lancet Neurology. 17:1035-1036
We thank Kia and colleagues, Guerreiro and colleagues, Pihlstrom and colleagues, Tesson and colleagues, and Shi and colleagues for their interest in our work. Kia and colleagues, Guerreiro and colleagues, and Pihlstrom and colleagues seek replication