Jorge Sequeiros - Publications, H-index & Citations

Jorge Sequeiros

i3s

50H指数

362论文数

9.7K被引数

收录论文 33

发表时间

Retrotransposition events shape the evolution of the ataxin-3 gene family in primates 反转录转座事件塑造了灵长类动物中ataxin-3基因家族的进化

Genome Biology and Evolution

IF2.8

2026-03-12

OAAI

Daniela Felício; Maria Inês Martins; Andreia Pinto; Jorge Sequeiros; António Amorim; Alexandra M Lopes; Susana Seixas; Sandra Martins; null

Deciphering Spastic Ataxia 解读痉挛性共济失调

NEUROLOGY-GENETICS

IF3.7

2025-12-01

PREAI

Damasio, Joana; Santos, Mariana; Costa, Sara; Moura, Joao; Sardoeira, Ana; Lemos, Carolina; Oliveira, Jorge; Barros, Jose; Sequeiros, Jorge

Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals 来自3972名个体全外显子组测序(WES)数据的具有临床可行性的次要发现

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

IF4.9

2025-04-09

OAAI

Melo, Mafalda; Ribeiro, Mariana; Silva, Paulo Filipe; Valente, Susana; Alves, Filipe; Venancio, Margarida; Sequeiros, Jorge; Freixo, Joao Parente; Antunes, Diana

Communicating Genetic Information in Families with Inherited Late-Onset Neurodegenerative Diseases: A Scoping Review 遗传性迟发性神经退行性疾病家庭中的遗传信息交流: 范围审查

HEALTH COMMUNICATION

IF2.7

2025-03-01

PREAI

Fontoura Dias, Sofia; Barbosa, Maria; Julio, Filipa; Clarke, Angus; Metcalfe, Alison; Sequeiros, Jorge; Paneque, Milena; Sousa, Liliana; Mendes, Alvaro

The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy

ACTA NEUROPATHOLOGICA

IF9.3

2024-08-01

OAAI

Weber, Jonasz J.; Czisch, Leah; Sena, Priscila Pereira; Fath, Florian; Huridou, Chrisovalantou; Schwarz, Natasa; Eltemur, Rana D. Incebacak; Wuerth, Anna; Weishaeupl, Daniel; Doecker, Miriam; Blumenstock, Gunnar; Martins, Sandra; Sequeiros, Jorge; Rouleau, Guy A.; Jardim, Laura Bannach; Saraiva-Pereira, Maria-Luiza; Franca Jr, Marcondes C.; Gordon, Carlos R.; Zaltzman, Roy; Cornejo-Olivas, Mario R.; van de Warrenburg, Bart P. C.; Durr, Alexandra; Brice, Alexis; Bauer, Peter; Klockgether, Thomas; Schoels, Ludger; Riess, Olaf; Schmidt, Thorsten

Modification of Huntington's disease by short tandem repeats

BRAIN COMMUNICATIONS

IF4.5

2024-01-23

OAAI

Hong, Eun Pyo; Ramos, Eliana Marisa; Aziz, N. Ahmad; Massey, Thomas H.; Mcallister, Branduff; Lobanov, Sergey; Jones, Lesley; Holmans, Peter; Kwak, Seung; Orth, Michael; Ciosi, Marc; Lomeikaite, Vilija; Monckton, Darren G.; Long, Jeffrey D.; Lucente, Diane; Wheeler, Vanessa C.; Gillis, Tammy; Macdonald, Marcy E.; Sequeiros, Jorge; Gusella, James F.; Lee, Jong-Min

Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage

HUMAN GENETICS

IF3.6

2023-11-14

OAAI

Martins, Sandra; Yahia, Ashraf; Costa, Ines P. D.; Siddig, Hassab E.; Abubaker, Rayan; Koko, Mahmoud; Corral-Juan, Marc; Matilla-Duenas, Antoni; Brice, Alexis; Durr, Alexandra; Leguern, Eric; Ranum, Laura P. W.; Amorim, Antonio; Elsayed, Liena E. O.; Stevanin, Giovanni; Sequeiros, Jorge

In Memoriam: Paula Coutinho (1941-2022), a pioneer in Neurogenetics

JOURNAL OF THE NEUROLOGICAL SCIENCES

IF3.2

2023-10-01

PREAI

Sequeiros, Jorge; Loureiro, Jose Leal; Barros, Jose

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias 非扩张性脊髓小脑共济失调的极端表型异质性

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-07-01

OAAI

Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hubsch, Tanja; Doss, Sarah; Van Velzen, Gijs A. J.; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T.; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Warrenburg, Bart Van de; Schoels, Ludger; Taroni, Franco; Brice, Alexis; Durr, Alexandra

Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST 由SPAST的从头变异引起的早发性和严重的复杂遗传性痉挛性截瘫

MOVEMENT DISORDERS

IF7.6

2023-06-11

OAAI

Damasio, Joana; Barbot, Clara; Felgueiras, Rui; Brandao, Ana Filipa; Barros, Jose; Oliveira, Jorge; Sequeiros, Jorge

Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia 葡萄牙遗传性小脑共济失调患者的分子特征

CELLS

IF5.2

2022-03-12

OAAI

Santos, Mariana; Damasio, Joana; Carmona, Susana; Neto, Joao Luis; Dehghani, Nadia; Guedes, Leonor Correia; Barbot, Clara; Barros, Jose; Bras, Jose; Sequeiros, Jorge; Guerreiro, Rita

A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: a case-control study 偏头痛患者中NRXN2与GABRE，SYT1和CASK的遗传相互作用: 病例对照研究

JOURNAL OF HEADACHE AND PAIN

IF7.9

2021-06-14

OAAI

Alves-Ferreira, Miguel; Quintas, Marlene; Sequeiros, Jorge; Sousa, Alda; Pereira-Monteiro, Jose; Alonso, Isabel; Neto, Joao Luis; Lemos, Carolina

Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in hereditary ATTRv amyloidosis 超越Val30Met转甲状腺素蛋白 (TTR): 与遗传性ATTRv淀粉样变性发病年龄相关的变异

AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

IF7.4

2021-01-18

PREAI

Alves-Ferreira, Miguel; Azevedo, Ana; Coelho, Teresa; Santos, Diana; Sequeiros, Jorge; Alonso, Isabel; Sousa, Alda; Lemos, Carolina

Management of information within Portuguese families with Huntington disease: a transgenerational process for putting the puzzle together 患有亨廷顿病的葡萄牙家庭中的信息管理: 将难题整合在一起的跨代过程

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2020-04-27

OAAI

Oliveira, Carla Roma; Mendes, Alvaro; Sequeiros, Jorge; Sousa, Liliana

Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype 新型MAG变体导致小脑共济失调伴动眼运动性失用: 分子基础和扩展的临床表型

JOURNAL OF CLINICAL MEDICINE

IF2.9

2020-04-23

OAAI

Santos, Mariana; Damasio, Joana; Kun-Rodrigues, Celia; Barbot, Clara; Sequeiros, Jorge; Bras, Jose; Alonso, Isabel; Guerreiro, Rita

Parkin truncating variants result in a loss-of-function phenotype Parkin截断变异导致功能缺失表型

SCIENTIFIC REPORTS

IF3.9

2019-11-06

OAAI

Santos, Mariana; Morais, Sara; Pereira, Conceicao; Sequeiros, Jorge; Alonso, Isabel

Yemenite-Jewish families with Machado-Joseph disease (MJD/SCA3) share a recent common ancestor 患有马查多-约瑟夫病 (MJD/SCA3) 的也门犹太家庭最近有共同的祖先

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2019-06-12

OAAI

Sharony, Reuven; Martins, Sandra; Costa, Ines P. D.; Zaltzman, Roy; Amorim, Antonio; Sequeiros, Jorge; Gordon, Carlos R.

C1QA and C1QC modify age-at-onset in familial amyloid polyneuropathy patients C1QA和C1QC改变家族性淀粉样多发性神经病患者的发病年龄

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2019-03-07

OAAI

Dias, Andreia; Santos, Diana; Coelho, Teresa; Alves-Ferreira, Miguel; Sequeiros, Jorge; Alonso, Isabel; Sousa, Alda; Lemos, Carolina

Polymorphisms in DNA methylatione-related genes are linked to the phenotype of Machado-Joseph disease DNA甲基化相关基因的多态性与machado-joseph病的表型有关

NEUROBIOLOGY OF AGING

IF3.5

2019-03-01

PREAI

Ding, Dongxue; Wang, Chunrong; Chen, Zhao; Peng, Huirong; Li, Kai; Zhou, Xin; Peng, Yun; Wang, Puzhi; Hou, Xiaocan; Li, Tianjiao; Qiu, Rong; Xia, Kun; Sequeiros, Jorge; Ashizawa, Tetsuo; Tang, Beisha; Jiang, Hong

Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution SCA37中DAB1 (ATTTC)n插入的突变机制: ATTTT重复延长和核苷酸取代

HUMAN MUTATION

IF3.7

2019-01-09

OAAI

Loureiro, Joana R.; Oliveira, Claudia L.; Mota, Carolina; Castro, Ana F.; Costa, Cristina; Loureiro, Jose L.; Coutinho, Paula; Martins, Sandra; Sequeiros, Jorge; Silveira, Isabel

研究方向