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Adriana Rebelo

University of Miami Miller School of Medicine
H指数:29
被引数:3,294

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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

由于SORD基因突变导致的Charcot-Marie-Tooth疾病的基因型与表型谱

BRAIN
IF11.7
2025-08-013
OAAI
Cortese, Andrea; Dohrn, Maike F.; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J.; Fernandez-Eulate, Gorka; Haddad, Saif; Laura, Matilde; Rossor, Alexander M.; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N.; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F.; Achenbach, Pascal; Schone, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D.; Winter, Natalie; Creigh, Peter D.; Sowden, Janet E.; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K. L.; Brennan, Kathryn M.; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R.; Kennerson, Marina L.; Kayserili, Hulya; Amado, Defne A.; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J.; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C.; Lee, Yi-Chung; Basak, Ayse N.; Hamed, Sherifa A.; Rojas-Garcia, Ricardo; Claeys, Kristl G.; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N.; Scherer, Steven S.; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M.; Shy, Michael E.; Zuchner, Stephan
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort

一种在全基因组范围内发现新型重复扩展疾病的未诊断疾病网络队列的研究方法

Genetics in Medicine
IF6.2
2025-05-220
PRE
Sarah Fazal; Harriet Dashnow; Maike F. Dohrn; Jacquelyn Raposo; Laurel Hiatt; Matt C. Danzi; Isaac R.L. Xu; Camilo Toro; David R. Adams; Karen Usdin; Bruce Hayward; Shilpa Nadimpalli Kobren; Shamil R. Sunyaev; Rebecca C. Spillmann; Vandana Shashi; Adriana Rebelo; Guney Bademci
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3
EBIOMEDICINE
IF10.8
2024-09-010
OAAI
Iruzubieta, Pablo; Alves, Cesar Augusto Pinheiro Ferreira; Al Shamsi, Aisha M.; Elghazali, Gehad; Zaki, Maha S.; Pinelli, Lorenzo; Lopergolo, Diego; Cho, Bernard P. H.; Jolly, Amy A.; Al Futaisi, Amna; Al-Amrani, Fatema; Galli, Jessica; Fazzi, Elisa; Vulin, Katarina; Barajas-Olmos, Francisco; Hengel, Holger; Aljamal, Bayan Mohammed; Nasr, Vahideh; Assarzadegan, Farhad; Ragno, Michele; Trojano, Luigi; Ojeda, Naomi Meave; Cakar, Arman; Bianchi, Silvia; Pescini, Francesca; Poggesi, Anna; Al Tenalji, Amal; Aziz, Majid; Mohammad, Rahema; Chedrawi, Aziza; De Stefano, Nicola; Zifarelli, Giovanni; Schoels, Ludger; Haack, Tobias B.; Rebelo, Adriana; Zuchner, Stephan; Koc, Filiz; Griffiths, Lyn R.; Orozco, Lorena; Helmes, Karla Garcia; Babaei, Meisam; Bauer, Peter; Jeong, Won Chan; Karimiani, Ehsan Ghayoor; Schmidts, Miriam; Gleeson, Joseph G.; Chung, Wendy K.; Alkuraya, Fowzan Sami; Shalbafan, Bita; Markus, Hugh S.; Houlden, Henry; Maroofian, Reza
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity

ITPR3中的复发性错觉变体导致严重程度不同的charcot-marie-tooth脱髓鞘

BRAIN
IF11.7
2024-06-280
PRE
Beijer, Danique; Dohrn, Maike F.; Rebelo, Adriana; Danzi, Matt C.; Grosz, Bianca Rose; Ellis, Melina; Kumar, Kishore R.; Vucic, Steve; Vais, Horia; Weissenrieder, Jillian S.; Lunko, Olesia; Paudel, Usha; Simpson, Leah C.; Camarena, Vladimir; Raposo, Jacquelyn; Saporta, Mario; Arcia, Yeisha; Xu, Isaac; Feely, Shawna; Record, Christopher J.; Blake, Julian; Reilly, Mary M.; Scherer, Steven S.; Kennerson, Marina; Lee, Yi-Chung; Foskett, J. Kevin; Shy, Michael E.; Inherited Neuropathy Consortium, Stephan; Zuchner, Stephan
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

一个常见的侧翼变异与FGF14-SCA27B重复基因座的稳定性增强有关

NATURE GENETICS
IF31.8
2024-06-272
PRE
Pellerin, David; Del Gobbo, Giulia F.; Couse, Madeline; Dolzhenko, Egor; Nageshwaran, Sathiji K.; Cheung, Warren A.; Xu, Isaac R. L.; Dicaire, Marie-Josee; Spurdens, Guinevere; Matos-Rodrigues, Gabriel; Stevanovski, Igor; Scriba, Carolin K.; Rebelo, Adriana; Roth, Virginie; Wandzel, Marion; Bonnet, Celine; Ashton, Catherine; Agarwal, Aman; Peter, Cyril; Hasson, Dan; Tsankova, Nadejda M.; Dewar, Ken; Lamont, Phillipa J.; Laing, Nigel G.; Renaud, Mathilde; Houlden, Henry; Synofzik, Matthis; Usdin, Karen; Nussenzweig, Andre; Napierala, Marek; Chen, Zhao; Jiang, Hong; Deveson, Ira W.; Ravenscroft, Gianina; Akbarian, Schahram; Eberle, Michael A.; Boycott, Kym M.; Pastinen, Tomi; Brais, Bernard; Zuchner, Stephan; Danzi, Matt C.
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
IF3.2
2024-04-051
PRE
Xu, Isaac R. L.; Danzi, Matt C.; Ruiz, Ariel; Raposo, Jacquelyn; De Jesus, Yeisha Arcia; Reilly, Mary M.; Cortese, Andrea; Shy, Michael E.; Scherer, Steven S.; Herrmann, David N.; Fridman, Vera; Baets, Jonathan; Saporta, Mario; Seyedsadjadi, Reza; Stojkovic, Tanya; Claeys, Kristl G.; Patel, Pooja; Feely, Shawna; Rebelo, Adriana P.; Dohrn, Maike F.; Zuchner, Stephan
Novel variant in CADM3 causes Charcot-Marie-Tooth disease

CADM3的新变体导致charcot-marie-tooth病

BRAIN COMMUNICATIONS
IF4.5
2023-09-051
OAAI
Yalcouye, Abdoulaye; Rebelo, Adriana P.; Cisse, Lassana; Rives, Lynette; Bamba, Salia; Cogan, Joy; Esoh, Kevin; Diarra, Salimata; Ezell, Kimberly M.; Tamega, Abdoulaye; Guinto, Cheick O.; Dohrn, Maike F.; Hamid, Rizwan; Fischbeck, Kenneth H.; Zuchner, Stephan; Landoure, Guida
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs

COQ7的双等位基因变异导致远端遗传性运动神经病伴上运动神经元体征

BRAIN
IF11.7
2023-05-1212
PRE
Rebelo, Adriana P.; Tomaselli, Pedro J.; Medina, Jessica; Wang, Ying; Dohrn, Maike F.; Nyvltova, Eva; Danzi, Matt C.; Garrett, Mark; Smith, Sean E.; Pestronk, Alan; Li, Chengcheng; Ruiz, Ariel; Jacobs, Elizabeth; Feely, Shawna M. E.; Franca Jr, Marcondes C.; Gomes, Marcus, V; Santos, Diogo F.; Kumar, Surinder; Lombard, David B.; Saporta, Mario; Hekimi, Siegfried; Barrientos, Antoni; Weihl, Conrad; Shy, Michael E.; Marques, Wilson; Zuchner, Stephan
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

迟发性小脑共济失调中的深层内含子FGF14 GAA重复扩增

NEW ENGLAND JOURNAL OF MEDICINE
IF78.5
2023-01-12108
OA
Pellerin, D.; Danzi, M. C.; Wilke, C.; Renaud, M.; Fazal, S.; Dicaire, M. -J; Scriba, C. K.; Ashton, C.; Yanick, C.; Beijer, D.; Rebelo, A.; Rocca, C.; Jaunmuktane, Z.; Sonnen, J. A.; Lariviere, R.; Genis, D.; Porcel, L. Molina; Choquet, K.; Sakalla, R.; Provost, S.; Robertson, R.; Allard-Chamard, X.; Tetreault, M.; Reiling, S. J.; Nagy, S.; Nishadham, V; Purushottam, M.; Vengalil, S.; Bardhan, M.; Nalini, A.; Chen, Z.; Mathieu, J.; Massie, R.; Chalk, C. H.; Lafontaine, A. -L; Evoy, F.; Rioux, M. -F; Ragoussis, J.; Boycott, K. M.; Dube, M. -P; Duquette, A.; Houlden, H.; Ravenscroft, G.; Laing, N. G.; Lamont, P. J.; Saporta, M. A.; Schuele, R.; Schoels, L.; La Piana, R.; Synofzik, M.; Zuchner, S.; Brais, B.
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease

由于FICD的去ampylation功能丧失而导致的BiP失活导致运动神经元疾病

GENETICS IN MEDICINE
IF6.2
2022-12-018
OAAI
Rebelo, Adriana P.; Ruiz, Ariel; Dohrn, Maike F.; Wayand, Melanie; Farooq, Amjad; Danzi, Matt C.; Beijer, Danique; Aaron, Brooke; Vandrovcova, Jana; Houlden, Henry; Matalonga, Leslie; Abreu, Lisa; Rouleau, Guy; Estiar, Mehrdad A.; Van de Vondel, Liedewei; Gan-Or, Ziv; Baets, Jonathan; Schuele, Rebecca; Zuchner, Stephan

研究方向

暂未获取到该数据
S
Stephan Züchner
H 指数:76论文数:423被引数:2.2万
S
Stephan Züchner
H 指数:38论文数:256被引数:5,410
M
Michael E. Shy
H 指数:73论文数:435被引数:1.7万
L
Lisa Abreu
H 指数:16论文数:43被引数:1,046
M
Matt C. Danzi
H 指数:30论文数:136被引数:3,682
H
Henry Houlden
H 指数:120论文数:1,507被引数:6.5万
M
Mary M. Reilly
H 指数:81论文数:849被引数:2.3万
M
Maike F. Dohrn
H 指数:17论文数:116被引数:951
R
Rebecca Schüle
H 指数:60论文数:573被引数:1.1万
S
Steven S. Scherer
H 指数:80论文数:298被引数:2.0万