نتائج البحث - "Robin Palvadeau"

1

Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family

المؤلفون: Robin Palvadeau, Atay Vural, Sibel Ertan, M S Aygün, Gülşah Şimşir, Gençer Genç, A. Nazli Basak, Z E Kaya-Güleç, Okan Falay, Ö Öztop-Çakmak

المصدر: neurogenetics. 21:51-58

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::adbccc68da0ae0c51ee38dcb25439b81Test
https://doi.org/10.1007/s10048-019-00595-0Test

2

The genetic structure of the Turkish population reveals high levels of variation and admixture

المؤلفون: Jean-Laurent Casanova, A. Nazli Basak, David Neil Cooper, Jungmin Choi, M Ece Kars, Peter D. Stenson, Hakan Buluş, Robin Palvadeau, Alper Yavuz, Caner Çağlar, O Emre Onat, Kaya Bilguvar, Tayfun Ozcelik, Yuval Itan, Murat Gunel, Jeffrey M. Friedman

المساهمون: Kars, Meltem Ece, Onat, Onur Emre, Özçelik, Tayfun, Acibadem University Dspace, ÇAĞLAR, CANER

المصدر: Proc Natl Acad Sci U S A
Proceedings of the National Academy of Sciences of the United States of America

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3bbe5d2fef38c4f1fbe81d7549f0bd5Test
https://pubmed.ncbi.nlm.nih.gov/34949644Test

3

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

المؤلفون: Faten Almutairi, Tarek Mustafa Owaidah, Najmeh Ahangari, Nada Al-Ahmadi, Leslie E. Sanderson, Henry Houlden, Romulo Mombach, Mazhor Al-Dosary, Anoud Abdulmalik Albader, Banan Al-Younes, Osama M. Mustafa, Tainá Regina Damaceno Silveira, Dilek Colak, Namik Kaya, Miriam Schmidts, Hazem Ghebeh, Herma C. van der Linde, Robin Palvadeau, Aida M. Bertoli-Avella, Raghda M Sabbagh, Rawan Almass, Hesham Aldhalaan, Maryam Najafi, Bashayer Alawam, Aljouhra AlHargan, Kristina Lanko, Aljohara Alharbi, Maysoon Alsagob, Bedri Karakas, Reza Maroofian, A. Nazli Basak, Khalid AlAhmadi, Ali Al-Odaib, Arndt Rolfs, Mohammad A. Al-Muhaizea, Elena Perenthaler, Najim Ameziane, Dinu Antony, Futwan Al-Mohanna, Albandary Al-Bakheet, Faisal S. BinHumaid, Anita Nikoncuk, Nikolas A Kühn, Dorota Monies, Ehsan Ghayoor Karimiani, Hamad Al-Zaidan, Tjakko J. van Ham, Ewa Goljan, Luana Gabriela Dalla Rosa Vieira, Jill A. Rosenfeld, Salmo Raskin, Dürdane Aksoy, Brian F. Meyer, Tahsin Stefan Barakat, Daniah Trabzuni, Stefan T. Arold

المساهمون: Clinical Genetics, Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), Palvadeau, Robin, Sanderson, L.E., Lanko, K., Alsagob, M., Almass, R., Al-Ahmadi, N., Najafi, M., Al-Muhaizea, M.A., Alzaidan, H., AlDhalaan, H., Perenthaler, E., van der Linde, H.C., Nikoncuk, A., Kühn, N. A., Antony, D., Owaidah, T.M., Raskin, S., Vieira, L. G. D. R., Mombach, R., Ahangari, N., Silveira, T. R. D., Ameziane, N., Rolfs, A., Alharbi, A., Sabbagh, R. M., AlAhmadi, K., Alawam, B., Ghebeh, H., AlHargan, A., Albader, A. A., Binhumaid, F. S., Goljan, E., Monies, D., Mustafa, O. M., Aldosary, M., AlBakheet, A., Alyounes, B., Almutairi, F., Al-Odaib, A, Aksoy, D. B., Trabzuni, D., Rosenfeld, J. A., Karimiani, E. G., Meyer, B. F., Karakaş, B., Al-Mohanna, F., Arold, S. T., Çolak, D., Maroofian, R., Houlden, H., Bertoli-Avella, A. M., Schmidts, M., Barakat, T. S., van Ham, T. J., Kaya, N., Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), School of Medicine

المصدر: Brain, 144(3), 769-780. Oxford University Press
Brain

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Ataxia, Adolescent, Cerebellar Ataxia, Protein subunit, VPS41, Cerebellar ataxia, Membrane trafficking, Neurodevelopmental disorder, Zebrafish disease modelling, Vesicular Transport Proteins, Biology, medicine.disease_cause, Young Adult, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Protein targeting, medicine, Animals, Humans, Genetic Predisposition to Disease, Child, Zebrafish, Vacuolar protein sorting, AcademicSubjects/SCI01870, membrane trafficking, zebrafish disease modelling, Genetic Variation, biology.organism_classification, neurodevelopmental disorder, Clinical neurology, Neurosciences, Pedigree, Transport protein, Cell biology, Protein Transport, 030104 developmental biology, Neurodevelopmental Disorders, Child, Preschool, AcademicSubjects/MED00310, Female, Cerebellar atrophy, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery, Reports

وصف الملف: application/pdf; text/academic publication

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3829cf3b4e450f526ad567f2a5f9dda5Test
https://pure.eur.nl/en/publications/e4916caa-5909-4a69-8c0c-11eb8621c0a0Test

4

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice

المؤلفون: Mefkure Eraksoy, Onder Us, Sibel Ertan, Hacer Durmus, Filiz Koç, Nazan Saner, Şeyma Tekgül, Pinar Tekturk, Cemile Kocoglu, Gençer Genç, Robin Palvadeau, Feza Deymeer, Güneş Kızıltan, Ece Kartal, Hulya Apaydin, Sevda Erer Özbek, Cenk Akbostanci, Suna Lahut, Yesim Parman, Erdi Şahin, Dilcan Kotan, Hülya Tireli, Murat Gultekin, Zeynep Özözen Ayas, Ersin Tan, Sibel Özekmekçi, Irmak Şahbaz, Hamit Acer, Zeynep Tufekcioglu, Dilek Ince Gunal, Hasmet Hanagasi, İhsan Şükrü Şengün, Arman Çakar, Esen Saka Topcuoglu, Gülşah Şimşir, Gülden Akdal, Elif Bayraktar, Fulya Akçimen, Ayşe Bora Tokçaer, Aysegul Gunduz, Uluç Yiş, Gul Serdaroglu, Atay Vural, Ayse Altintas, Hüseyin A. Şahin, Özgür Ömür, Tuğçe Gül, Gül Demet Kaya Özçora, Müge Kovancılar Koç, Vildan Yayla, Aksel Siva, Semra Hiz, Meral Topçu, Piraye Oflazer, Başar Bilgiç, M. Osman Çorbalı, Semiha Kurt, Elçin Bora, Nesli E. Şen, Kadriye Agan, A. Nazli Basak, Halil Güllüoğlu, Ceren Tunca, Sefer Kumandaş, Muhsin Elmas, Özgür Öztop Çakmak, Bulent Elibol, Aysun Soysal, Zeynep E. Kaya Gulec, Caroline Pirkevi Çetinkaya, Dürdane Aksoy, Aslı Gündoğdu Eken

المساهمون: Ege Üniversitesi, Elmas, Muhsin

مصطلحات موضوعية: 0301 basic medicine, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Turkey, Consanguinity, 03 medical and health sciences, symbols.namesake, Wholeexome sequencing, 0302 clinical medicine, medicine, Genetics, Humans, Spinocerebellar Ataxias, genetics, Exome sequencing, Spinocerebellar Degenerations, Sanger sequencing, biology, ataxia, medicine.disease, Optic Atrophy, 030104 developmental biology, Neurology, Muscle Spasticity, whole‐, Spinocerebellar ataxia, symbols, Frataxin, biology.protein, Neurology (clinical), medicine.symptom, Heterogeneity, heterogeneity, Trinucleotide repeat expansion, exome sequencing, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bd268a54a7c084aa9507fb520b75a7dTest
https://avesis.gazi.edu.tr/publication/details/dc537293-2ef2-4fdc-932d-c75876075839/oaiTest

5

Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database

المساهمون: BABACAN YILDIZ, GÜLSEN, Tunca, Ceren, Seker, Tuncay, Akcimen, Fulya, Coskun, Cemre, Bayraktar, Elif, Palvadeau, Robin, Zor, Seyit, Kocoglu, Cemile, Kartal, Ece, Sen, Nesli Ece, Hamzeiy, Hamid, Erimis, Aslihan Ozoguz, Norman, Utku, Karakahya, Oguzhan, Olgun, Gulden, Akgun, Tahsin, Durmus, Hacer, Sahin, Erdi, Cakar, Arman, Gursoy, Esra Baar, Yildiz, Gulsen Babacan, Isak, Baris, Uluc, Kayihan, Hanagasi, Hasmet, Bilgic, Basar, Turgut, Nilda, Aysal, Fikret, Ertas, Mustafa, Boz, Cavit, Kotan, Dilcan, Idrisoglu, Halil, Soysal, Aysun, Adatepe, Nurten Uzun, Akalin, Mehmet Ali, Koc, Filiz, Tan, Ersin, Oflazer, Piraye, Deymeer, Feza, Tastan, Oznur, Cicek, A. Ercument, Kavak, Ersen, Parman, Yesim, Basak, A. Nazli, Karakahya, Oğuzhan, Olgun, Gülden, Çiçek, A. Ercüment, İÜC, Cerrahpaşa Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü

المصدر: Human Mutation

مصطلحات موضوعية: Turkey, Genome-wide association study, Gene mutation, AMYOTROPHIC-LATERAL-SCLEROSIS, ALS variant database, Cell-Cycle Regulators, Databases, Genetic, MOTOR-NEURON DISEASE, Coexpression Network, genetics, Genetics (clinical), Exome sequencing, Genetics, next generation sequencing, RISK, 0303 health sciences, education.field_of_study, Project MinE, 030305 genetics & heredity, SPINAL MUSCULAR-ATROPHY, Amyotrophic-Lateral-Sclerosis, clinical exome sequencing, Penetrance, 3. Good health, Phenotype, Spinal Muscular-Atrophy, Turkish peninsula, motor neuron disease, COEXPRESSION NETWORK, GENE-MUTATIONS, FORM, Risk, Genotype, Population, Locus (genetics), Biology, 03 medical and health sciences, Gene-Mutations, Sequence Variation, Analyses Identify, coexpression network analysis, SEQUENCE VARIATION, Humans, Expanding genotypes, shared phenotypes, molecular networks, and a public variant database-, HUMAN MUTATION, cilt.41, 2020 [Tunca C., Seker T., Akcimen F., Coskun C., Bayraktar E., Palvadeau R., Zor S., Kocoglu C., Kartal E., Sen N. E. , et al., -Revisiting the complex architecture of ALS in Turkey], education, Form, 030304 developmental biology, Genetic association, Internet, genome-wide association study, Whole Genome Sequencing, ANALYSES IDENTIFY, Amyotrophic Lateral Sclerosis, Motor-Neuron Disease, CELL-CYCLE REGULATORS, ALS