-
1دورية أكاديمية
المؤلفون: Petracca, Martina, Di Tella, Sonia, Solito, Marcella, Lo Monaco, Maria Rita, Calabresi, Paolo, Silveri, Maria Caterina, Bentivoglio, Anna Rita
المساهمون: Petracca, Martina, Di Tella, Sonia, Solito, Marcella, Zinzi, Paola, Lo Monaco, Maria Rita, Di Lazzaro, Giulia, Calabresi, Paolo, Silveri, Maria Caterina, Bentivoglio, Anna Rita
مصطلحات موضوعية: 41 CAG triplets, Enroll-HD, age of onset, allele expansion, late-onset Huntington's disease, Cohort Studies, Genotype, Humans, Trinucleotide Repeat Expansion, Cognition Disorders, Huntington Disease, Settore M-PSI/02 - PSICOBIOLOGIA E PSICOLOGIA FISIOLOGICA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35357736; info:eu-repo/semantics/altIdentifier/wos/WOS:000783024100001; volume:29; issue:7; firstpage:1940; lastpage:1951; numberofpages:12; issueyear:2022; journal:EUROPEAN JOURNAL OF NEUROLOGY; https://hdl.handle.net/10807/216545Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128202960
-
2دورية أكاديمية
المؤلفون: Vogel, Adam P., Graf, Lisa, Magee, Michelle, Schöls, Ludger, Rommel, Natalie, Synofzik, Matthis
المصدر: Annals of Clinical and Translational Neurology 9(8), 1310-1315 (2022). doi:10.1002/acn3.51613
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Biofeedback, Psychology, Dysarthria: etiology, Dysarthria: therapy, Humans, Speech, Spinocerebellar Ataxias: genetics, Trinucleotide Repeat Expansion
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:35726838; info:eu-repo/semantics/altIdentifier/issn/2328-9503; https://pub.dzne.de/record/164853Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-01297%22Test
-
3
المؤلفون: Xun Zhou, Hongyan Huang, Runcheng He, Sheng Zeng, Zhenhua Liu, Qian Xu, Jifeng Guo, Xinxiang Yan, Ranhui Duan, Jinchen Li, Beisha Tang, Yanming Xu, Qiying Sun
المصدر: European Journal of Neurology. 29:3600-3610
مصطلحات موضوعية: Neurology, Essential Tremor, Intranuclear Inclusion Bodies, Humans, Neurodegenerative Diseases, Neurology (clinical), Trinucleotide Repeat Expansion, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86da77487ed20f780a11ce48b8221850Test
https://doi.org/10.1111/ene.15552Test -
4
المؤلفون: Zhiping Wang, Peng Liu, Haotian Wang, Zhidong Cen, Biao Jiang, Bo Wang, Junfeng Ji, Dehao Yang, Wei Luo, Houmin Yin, Lebo Wang, You Chen, Fan Zhang, Xinhui Chen, Fei Xie, Sheng Wu, Zhiyuan Ouyang
المصدر: European Journal of Neurology. 29:450-458
مصطلحات موضوعية: Proband, Pathology, medicine.medical_specialty, medicine.diagnostic_test, Essential tremor, business.industry, Essential Tremor, Intranuclear Inclusion Bodies, Neurodegenerative Diseases, Magnetic resonance imaging, medicine.disease, Hyperintensity, Neurology, Tremor, Skin biopsy, medicine, Humans, Neurology (clinical), Differential diagnosis, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, business, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9831628cbd6c0329e05498e6b588bf82Test
https://doi.org/10.1111/ene.15169Test -
5
المؤلفون: Sergio Pérez‐Oliveira, Ignacio Álvarez, Irene Rosas, Manuel Menendez‐González, Marta Blázquez‐Estrada, Miquel Aguilar, Daniela Corte, Mariateresa Buongiorno, Laura Molina‐Porcel, Iban Aldecoa, María J. Martí, Pascual Sánchez‐Juan, Jon Infante, Isabel González‐Aramburu, Pablo García‐González, Maitée Rosende‐Roca, Mercè Boada, Agustín Ruiz, María Teresa Periñán, Daniel Macías‐García, Laura Muñoz‐Delgado, Pilar Gómez‐Garre, Pablo Mir, Jordi Clarimón, Alberto Lleo, Daniel Alcolea, Beatriz De la Casa‐Fages, Israel Duarte, Victoria Álvarez, Pau Pastor
المساهمون: Instituto de Salud Carlos III, European Commission, Asociación Parkinson Asturias, Obra Social Cajastur, Ministerio de Educación, Cultura y Deporte (España), Junta de Andalucía, Fundació Víctor Grifols i Lucas, Fundación 'la Caixa', Ace Alzheimer Center Barcelona, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), Menéndez-González, Manuel, Infante, Jon, Mir, Pablo, Casa-Fages, Beatriz de la, Álvarez, Victoria
المصدر: Movement Disorders. 37:1841-1849
مصطلحات موضوعية: Male, Huntingtin Protein, Synucleinopathies, Parkinson's disease, Dementia with Lewy bodies, Multisystem atrophy, α-Synucleinopathies, Parkinson Disease, Multiple System Atrophy, HTT gene, Huntington Disease, Neurology, Humans, Neurology (clinical), Trinucleotide Repeat Expansion, Alleles
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba42cab5c41e186e5b431ffd50fdb592Test
https://doi.org/10.1002/mds.29153Test -
6
المؤلفون: Yi‐Heng Zeng, Kang Yang, Gan‐Qin Du, Yi‐Kun Chen, Chun‐Yan Cao, Yu‐Sen Qiu, Jin He, Hai‐Dong Lv, Qian‐Qian Qu, Jian‐Nan Chen, Guo‐Rong Xu, Long Chen, Fu‐Ze Zheng, Miao Zhao, Min‐Ting Lin, Wan‐Jin Chen, Jing Hu, Zhi‐Qiang Wang, Ning Wang
المصدر: Annals of Neurology. 92:512-526
مصطلحات موضوعية: Adult, Neurology, Intranuclear Inclusion Bodies, Humans, RNA, Neurology (clinical), Trinucleotide Repeat Expansion, In Situ Hybridization, Fluorescence, Muscular Dystrophies, Pedigree
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd83a57931a3880691cc67a60eed3ee9Test
https://doi.org/10.1002/ana.26436Test -
7
المؤلفون: Berit Byström, Andreas Viberg, Ida Maria Westin, Irina Golovleva
المصدر: Acta Ophthalmologica. 100:541-548
مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Gastroenterology, Transcription Factor 4, cornea, Internal medicine, Genotype, Humans, Medicine, Genetic Predisposition to Disease, Allele, TCF4, Sweden, Fuchs’ endothelial corneal dystrophy, business.industry, Genetic heterogeneity, Fuchs' Endothelial Dystrophy, General Medicine, Clinical disease, genetic aetiology, Ophthalmology, Oftalmologi, Microsatellite, trinucleotide repeat disorders, Trinucleotide Repeat Expansion, business, Trinucleotide repeat expansion, Fuchs Endothelial Corneal Dystrophy
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::411c490ed1083de2e0e45fbc425319ffTest
https://doi.org/10.1111/aos.15032Test -
8
المؤلفون: Yu Fan, Si Shen, Jing Yang, Dabao Yao, Mengjie Li, Chengyuan Mao, Yunchao Wang, Xiaoyan Hao, Dongrui Ma, Jiadi Li, Jingjing Shi, Mengnan Guo, Shuangjie Li, Yanpeng Yuan, Fen Liu, Zhihua Yang, Shuo Zhang, Zhengwei Hu, Liyuan Fan, Han Liu, Chan Zhang, Yanlin Wang, Qingzhi Wang, Hong Zheng, Ying He, Bo Song, Yuming Xu, Changhe Shi
المصدر: Annals of Neurology. 91:704-715
مصطلحات موضوعية: Cohort Studies, Fragile X Mental Retardation Protein, Movement Disorders, Neurology, Intranuclear Inclusion Bodies, Humans, Neurology (clinical), Trinucleotide Repeat Expansion, Muscular Dystrophies, Adaptor Proteins, Signal Transducing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::666f8db0b0a5a32ff165087894165265Test
https://doi.org/10.1002/ana.26325Test -
9
المصدر: American Journal of Medical Genetics Part A. 188:1476-1481
مصطلحات موضوعية: Fragile X Mental Retardation Protein, Trinucleotide Repeats, Fragile X Syndrome, Genetics, Humans, Female, Child, Trinucleotide Repeat Expansion, Alleles, Genetics (clinical), Retrospective Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6372ff3e18c8ffb8ef1d50dc85eb9ba9Test
https://doi.org/10.1002/ajmg.a.62666Test -
10دورية أكاديمية
المؤلفون: Pellerin, David, Iruzubieta, Pablo, Renaud, Mathilde, Synofzik, Matthis, Zuchner, Stephan, Brais, Bernard, Başak, Nazlı A, Houlden, Henry, Tekgül, Şeyma, Danzi, Matt C, Ashton, Catherine, Dicaire, Marie-Josée, Wandzel, Marion, Roth, Virginie, Lamont, Phillipa J, Bonnet, Céline
المصدر: Movement disorders 38(8), 1575 - 1577 (2023). doi:10.1002/mds.29552
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Humans, Chile, Ataxia: genetics, Cerebellar Ataxia, Friedreich Ataxia: genetics, Trinucleotide Repeat Expansion
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:37565404; info:eu-repo/semantics/altIdentifier/issn/1531-8257; info:eu-repo/semantics/altIdentifier/issn/0885-3185; https://pub.dzne.de/record/259749Test; https://pub.dzne.de/search?p=id:%22DZNE-2023-00789%22Test
