المؤلفون: 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

المساهمون: Clinical Genetics

المصدر: Annals of Neurology
Annals of Neurology, 89(3), 485-497. John Wiley & Sons Inc.

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Mutation, Missense, Biology, White People, 03 medical and health sciences, symbols.namesake, Young Adult, eIF-2 Kinase, 0302 clinical medicine, Asian People, Genetic linkage, Exome Sequencing, medicine, Missense mutation, Humans, Age of Onset, Protein kinase A, Child, Exome, Research Articles, Dystonia, Sanger sequencing, Genetics, Kinase, Brain, Infant, Fibroblasts, Middle Aged, medicine.disease, Protein kinase R, Magnetic Resonance Imaging, Pedigree, 030104 developmental biology, Neurology, Dystonic Disorders, Child, Preschool, symbols, Female, Neurology (clinical), 030217 neurology & neurosurgery, Genome-Wide Association Study, Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ad9001fedfb5482325a6cdaee2b2cb6Test
http://www.scopus.com/inward/record.url?scp=85097551907&partnerID=8YFLogxKTest

المؤلفون: Pankaj A. Agarwal, Demy J.S. Kuipers, Christina Fevga, Shruti Agrawal, Sangeeta H. Ravat, Guido J. Breedveld, Kapil Sethi, Vincenzo Bonifati

المساهمون: Clinical Genetics

المصدر: Movement Disorders, 37(10), 2166-2167. John Wiley & Sons Inc.

مصطلحات موضوعية: Dystonia, Asian People, Neurology, Homozygote, Humans, Nerve Tissue Proteins, Neurology (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::374d7fe430928d13df8d55d92fcf9d64Test
https://pure.eur.nl/en/publications/f907bc72-c645-4f74-9c46-58625b935bd7Test

المؤلفون: 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

المساهمون: Neurology, Clinical Genetics, Netherlands Institute for Neuroscience (NIN), Amsterdam Neuroscience - Neurodegeneration, Anatomy and neurosciences, Pathology, Human genetics

المصدر: 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-200318Test, https://doi.org/10.3233/JAD-200318Test
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

مصطلحات موضوعية: Lewy Body Disease, Male, 0301 basic medicine, Heterozygote, LRP10, phenotype, genotype, Genetic predisposition to disease, Disease, Neuropathology, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Alzheimer Disease, mental disorders, medicine, Humans, Dementia, Family history, Pathological, LDL-Receptor Related Proteins, Aged, Aged, 80 and over, neuropathology, business.industry, Dementia with Lewy bodies, General Neuroscience, Parkinsonism, Brain, Parkinson Disease, General Medicine, medicine.disease, Psychiatry and Mental health, Clinical Psychology, 030104 developmental biology, Etiology, Female, Geriatrics and Gerontology, business, 030217 neurology & neurosurgery, Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d730f760a5a5ad8a373a14be6988144bTest
https://doi.org/10.3233/jad-200318Test

المؤلفون: 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

المساهمون: Clinical Genetics, Movement Disorder (MD)

المصدر: Parkinsonism and Related Disorders, 94, 54-61. Elsevier
Parkinsonism & Related Disorders, 94, 54-61. Elsevier

مصطلحات موضوعية: Myoclonus, DYSTONIA, Whole exome sequencing, WARS2, TRANSFER-RNA SYNTHETASE, Tryptophan-tRNA Ligase, VARIANTS, Dihydroxyphenylalanine, nervous system diseases, Phenotype, Neurology, Parkinsonian Disorders, Early onset parkinsonism, Mutation, Tremor, Progressive myoclonus ataxia, Humans, Ataxia, Neurology (clinical), Geriatrics and Gerontology, Spinocerebellar Degenerations

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74bec6141274e44c857e824204614322Test
https://pure.eur.nl/en/publications/f112d057-d2a9-4cfc-9355-98b5f603ffa9Test

المؤلفون: 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

المصدر: Movement Disorders. 33:1814-1819

مصطلحات موضوعية: 0301 basic medicine, Genetics, Sanger sequencing, Parkinsonism, Disease, Biology, medicine.disease, Disease gene identification, Frameshift mutation, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, 0302 clinical medicine, Neurology, Genetic linkage, Intellectual disability, medicine, symbols, Missense mutation, Neurology (clinical), 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4ae36b29dcd39a46a3fb58015425d9c7Test
https://doi.org/10.1002/mds.27501Test

المؤلفون: 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

المساهمون: Neurology, Clinical Genetics

المصدر: Neurobiol Aging
Neurobiology of Aging, 94. Elsevier Inc.

مصطلحات موضوعية: 0301 basic medicine, Male, Aging, medicine.medical_specialty, Disease, Article, Progressive supranuclear palsy, Cohort Studies, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Internal medicine, Exome Sequencing, medicine, Humans, LDL-Receptor Related Proteins, Aged, Sanger sequencing, business.industry, Dementia with Lewy bodies, General Neuroscience, Genetic Variation, Exons, Middle Aged, medicine.disease, eye diseases, 030104 developmental biology, Cohort, symbols, Female, Neurology (clinical), Supranuclear Palsy, Progressive, Geriatrics and Gerontology, business, Validation cohort, 030217 neurology & neurosurgery, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::126b5755ee761ed3c28c290fb5e8a465Test
https://europepmc.org/articles/PMC8281359Test/

المؤلفون: 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

المساهمون: Clinical Genetics

المصدر: Parkinsonism & Related Disorders, 39, 64-70. Elsevier

مصطلحات موضوعية: 0301 basic medicine, Proband, Pathology, medicine.medical_specialty, Neurodegeneration with brain iron accumulation, Parkinsonism, Neurodegeneration, Haplotype, Locus (genetics), Biology, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Globus pallidus, Neurology, medicine, Neurology (clinical), Geriatrics and Gerontology, Cognitive decline, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47cb9ca655c047ddfcb03a9cb771076bTest
https://pure.eur.nl/en/publications/160d06b6-8763-4e25-8ffc-535af126b55aTest

المؤلفون: Ilaria Taglia, Maria Teresa Dotti, Andrea Mignarri, Guido J. Breedveld, Antonio Federico, Demy J.S. Kuipers, Vincenzo Bonifati

المساهمون: Clinical Genetics

المصدر: Parkinsonism & Related Disorders, 67, 24-26. Elsevier

مصطلحات موضوعية: Male, Glycoside Hydrolases, Bioinformatics, Text mining, Basal Ganglia Diseases, Parkinsonian Disorders, Cerebellar Diseases, Medicine, Humans, Gait Disorders, Neurologic, Aged, Primary (chemistry), business.industry, Dysarthria, Siblings, Calcinosis, medicine.disease, Pedigree, Neurology, Italy, Mutation, Heredodegenerative Disorders, Nervous System, Female, Neurology (clinical), Geriatrics and Gerontology, business, Calcification, Brain Stem

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b141997034606cde0c055dc0b10d26d5Test
https://pubmed.ncbi.nlm.nih.gov/31621601Test

المؤلفون: 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

المساهمون: Clinical Genetics, Radiology & Nuclear Medicine, Cell biology

المصدر: Parkinsonism & Related Disorders, 66, 228-231. Elsevier

مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Ataxia, Turkey, Mutation, Missense, Biology, Connexins, 03 medical and health sciences, symbols.namesake, GJC2, 0302 clinical medicine, Parkinsonian Disorders, medicine, Missense mutation, Humans, Age of Onset, Exome sequencing, Aged, Sanger sequencing, Genetics, Parkinsonism, Siblings, Middle Aged, Disease gene identification, medicine.disease, Magnetic Resonance Imaging, White Matter, Pedigree, 030104 developmental biology, Phenotype, Neurology, symbols, Female, Neurology (clinical), Geriatrics and Gerontology, medicine.symptom, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf33d1f1858168830437a928106ca96bTest
https://pubmed.ncbi.nlm.nih.gov/31431325Test

المؤلفون: Vincenzo Bonifati, Guido J. Breedveld, Wim Mandemakers, Marialuisa Quadri, Demy J.S. Kuipers

المصدر: The Lancet Neurology. 17:1035-1036

مصطلحات موضوعية: Synucleinopathies, medicine.medical_specialty, Dementia with Lewy bodies, Sequencing data, Disease, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, medicine, 030212 general & internal medicine, Neurology (clinical), Psychiatry, Psychology, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::146ce838c9555efe56e3007c8cb7a108Test
https://doi.org/10.1016/s1474-4422Test(18)30408-3