نتائج البحث - "Marialuisa Quadri"

1

EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia

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

2

Clinical and Pathological Phenotypes of LRP10 Variant Carriers with Dementia

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

3

PTRHD1 Loss-of-function mutation in an african family with juvenile-onset Parkinsonism and intellectual disability

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

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

4

LRP10 variants in progressive supranuclear palsy

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.

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

5

LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study

المؤلفون: 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

المساهمون: Quadri, Marialuisa, Mandemakers, Wim, Grochowska, Martyna M, Masius, Roy, Geut, Hanneke, Fabrizio, Edito, Breedveld, Guido J, Kuipers, Demy, Minneboo, Michelle, Vergouw, Leonie J M, Carreras Mascaro, Ana, Yonova-Doing, Ekaterina, Simons, Erik, Zhao, Tianna, Di Fonzo, Alessio B, Chang, Hsiu-Chen, Parchi, Piero, Melis, Marta, Correia Guedes, Leonor, Criscuolo, Chiara, Thomas, Astrid, Brouwer, Rutger W W, Heijsman, Daphne, Ingrassia, Angela M T, Calandra Buonaura, Giovanna, Rood, Janneke P, Capellari, Sabina, Rozemuller, Annemieke J, Sarchioto, Marianna, Fen Chien, Hsin, Vanacore, Nicola, Olgiati, Simone, Wu-Chou, Yah-Huei, Yeh, Tu-Hsueh, Boon, Agnita J W, Hoogers, Susanne E, Ghazvini, Mehrnaz, IJpma, Arne S, van IJcken, Wilfred F J, Onofrj, Marco, Barone, Paolo, Nicholl, David J, Puschmann, Andrea, De Mari, Michele, Kievit, Anneke J, Barbosa, Egberto, De Michele, Giuseppe, Majoor-Krakauer, Danielle, van Swieten, John C, de Jong, Frank J, Ferreira, Joaquim J, Cossu, Giovanni, Lu, Chin-Song, Meco, Giuseppe, Cortelli, Pietro, van de Berg, Wilma D J, Bonifati, Vincenzo, Netherlands Institute for Neuroscience (NIN), Amsterdam Neuroscience - Neurodegeneration, Neurology, Anatomy and neurosciences, Pathology, Clinical Genetics, Erasmus MC other, Cell biology, Developmental Biology, Ijpma, Arne S

المصدر: 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/S1474-4422Test(18)30179-0

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0e6386fbddbbc669fd451323d5f8502Test
https://pure.eur.nl/en/publications/3a0201b7-ab58-4167-8432-f3c6b73b8801Test

6

دورية أكاديمية

ORIGINAL ARTICLE Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia

المؤلفون: Marialuisa Quadri, Giovanni Cossu, Valeria Saddi, Erik J. Simons, Daniela Murgia, Maurizio Melis, Anna Ticca, Ben A. Oostra, Vincenzo Bonifati, V. Saddi, A. Ticca

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/02/bb/Neurogenetics_2011_Aug_11_12(3)_203-209.tar.gz

وصف الملف: application/zip

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.289.3347Test

7

TMEM230 : How does it fit in the etiology and pathogenesis of Parkinson's disease?

المؤلفون: Vincenzo Bonifati, Maria Stamelou, Wim Mandemakers, Marialuisa Quadri

المصدر: Movement Disorders. 32:1159-1162

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a05d94f8471fc22a263c76b2c87b1511Test
https://doi.org/10.1002/mds.27061Test

8

The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN

المساهمون: Clinical Genetics

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

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

9

Neuropathological and genetic characteristics of a post-mortem series of cases with dementia with Lewy bodies clinically suspected of Creutzfeldt-Jakob's disease

المؤلفون: F.J. de Jong, Yvon Galis, Marialuisa Quadri, Afina W. Lemstra, Leonie J.M. Vergouw, A. Ingrassia, Hanneke Geut, Vincenzo Bonifati, W. D. J. van de Berg, A.J.M. Rozemuller

المساهمون: Neurology, Clinical Genetics, Amsterdam Neuroscience - Neurodegeneration, Pathology, Anatomy and neurosciences

المصدر: Parkinsonism and Related Disorders, 63, 162. Elsevier BV
Geut, H, Vergouw, L J M, Galis, Y, Ingrassia, A, de Jong, F J, Quadri, M, Bonifati, V, Lemstra, A W, Rozemuller, A J M & van de Berg, W D J 2019, ' Neuropathological and genetic characteristics of a post-mortem series of cases with dementia with Lewy bodies clinically suspected of Creutzfeldt-Jakob's disease ', Parkinsonism and Related Disorders, vol. 63, pp. 162-168 . https://doi.org/10.1016/j.parkreldis.2019.02.011Test, https://doi.org/10.1016/j.parkreldis.2019.02.011Test
Parkinsonism & Related Disorders, 63, 162-168. Elsevier
Parkinsonism and Related Disorders, 63, 162-168. Elsevier BV

مصطلحات موضوعية: 0301 basic medicine, Lewy Body Disease, Male, Pathology, medicine.medical_specialty, Neurology, SORL1, Clinical Neurology, Neocortex, Disease, Neuropathology, Rapidly progressive dementia, Creutzfeldt-Jakob Syndrome, 03 medical and health sciences, 0302 clinical medicine, C9orf72, Diagnosis, Exome Sequencing, mental disorders, medicine, Journal Article, Humans, Exome sequencing, LDL-Receptor Related Proteins, Aged, Aged, 80 and over, business.industry, Dementia with Lewy bodies, Membrane Transport Proteins, medicine.disease, nervous system diseases, Alpha-synuclein pathology, 030104 developmental biology, Disease Progression, alpha-Synuclein, Glucosylceramidase, Female, GBA, Neurology (clinical), Autopsy, Geriatrics and Gerontology, business, 030217 neurology & neurosurgery, Progressive disease

وصف الملف: text/plain; image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6881a453c6772fc82a0fb3a36a46e473Test
https://dspace.library.uu.nl/handle/1874/391396Test

10

LRP10 variants in Parkinson's disease and dementia with Lewy bodies in the South-West of the Netherlands

المؤلفون: John C. van Swieten, Giuseppe De Michele, Vincenzo Bonifati, Frank Jan de Jong, Guido J. Breedveld, Shamiram Melhem, Leonie J.M. Vergouw, Tsz Hang Wong, Chiara Criscuolo, Annemieke Ruitenberg, Marialuisa Quadri

المساهمون: Neurology, Clinical Genetics, Vergouw, L. J. M., Ruitenberg, A., Wong, T. H., Melhem, S., Breedveld, G. J., Criscuolo, C., De Michele, G., de Jong, F. J., Bonifati, V., van Swieten, J. C., Quadri, M.

المصدر: Parkinsonism & Related Disorders, 65, 243-247. Elsevier

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::376a0d5078b4d13c43ffa524bea85ebbTest
https://pure.eur.nl/en/publications/013e3b03-f303-4015-9f80-24d5f55ed6ebTest

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