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SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 9, p. 3131, doi. 10.1093/brain/awae079
By:
- Rebelo, Adriana P;
- Abad, Clemer;
- Dohrn, Maike F;
- Li, Jian J;
- Tieu, Ethan K;
- Medina, Jessica;
- Yanick, Christopher;
- Huang, Jingyu;
- Zotter, Brendan;
- Young, Juan I;
- Saporta, Mario;
- Scherer, Steven S;
- Walz, Katherina;
- Zuchner, Stephan
Publication type:
Article
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4191, doi. 10.1093/brain/awad158
By:
- 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;
- França, Marcondes C;
- Gomes, Marcus V;
- Santos, Diogo F;
- Kumar, Surinder;
- Lombard, David B;
- Saporta, Mario
Publication type:
Article
Expanding PRDX3 disease: broad range of onset age and infratentorial MRI signal changes.
Published in:
2022
By:
- Rebelo, Adriana P;
- Bender, Benjamin;
- Haack, Tobias B;
- Zuchner, Stephan;
- consortium, PREPARE;
- Basak, A Nazli;
- Synofzik, Matthis;
- PREPARE consortium
Publication type:
journal article
Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
Published in:
2021
By:
- Rebelo, Adriana P;
- Cortese, Andrea;
- Abraham, Amit;
- Eshed-Eisenbach, Yael;
- Shner, Gal;
- Vainshtein, Anna;
- Buglo, Elena;
- Camarena, Vladimir;
- Gaidosh, Gabriel;
- Shiekhattar, Ramin;
- Abreu, Lisa;
- Courel, Steve;
- Burns, Dennis K;
- Bai, Yunhong;
- Bacon, Chelsea;
- Feely, Shawna M E;
- Castro, Diana;
- Peles, Elior;
- Reilly, Mary M;
- Shy, Michael E
Publication type:
journal article
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.
Published in:
2021
By:
- Rebelo, Adriana P;
- Eidhof, Ilse;
- Cintra, Vivian P;
- Guillot-Noel, Léna;
- Pereira, Claudia V;
- Timmann, Dagmar;
- Traschütz, Andreas;
- Schöls, Ludger;
- Coarelli, Giulia;
- Durr, Alexandra;
- Anheim, Mathieu;
- Tranchant, Christine;
- van de Warrenburg, Bart;
- Guissart, Claire;
- Koenig, Michel;
- Howell, Jack;
- Moraes, Carlos T;
- Schenck, Annette;
- Stevanin, Giovanni;
- Züchner, Stephan
Publication type:
journal article
A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
Published in:
2021
By:
- Rebelo, Adriana P;
- Cortese, Andrea;
- Abraham, Amit;
- Eshed-Eisenbach, Yael;
- Shner, Gal;
- Vainshtein, Anna;
- Buglo, Elena;
- Camarena, Vladimir;
- Gaidosh, Gabriel;
- Shiekhattar, Ramin;
- Abreu, Lisa;
- Courel, Steve;
- Burns, Dennis K;
- Bai, Yunhong;
- Bacon, Chelsea;
- Feely, Shawna M E;
- Castro, Diana;
- Peles, Elior;
- Reilly, Mary M;
- Shy, Michael E
Publication type:
journal article
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.
Published in:
2018
By:
- Rebelo, Adriana P.;
- Saade, Dimah;
- Pereira, Claudia V.;
- Farooq, Amjad;
- Huff, Tyler C.;
- Abreu, Lisa;
- Moraes, Carlos T.;
- Mnatsakanova, Diana;
- Mathews, Kathy;
- Hua Yang;
- Schon, Eric A.;
- Zuchner, Stephan;
- Shy, Michael E.;
- Yang, Hua
Publication type:
journal article
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.
Published in:
Journal of Clinical Investigation, 2012, v. 122, n. 2, p. 538, doi. 10.1172/JCI60560
By:
- Montenegro, Gladys;
- Rebelo, Adriana P.;
- Connell, James;
- Allison, Rachel;
- Babalini, Carla;
- D'Aloia, Michela;
- Montieri, Pasqua;
- Schüle, Rebecca;
- Ishiura, Hiroyuki;
- Price, Justin;
- Strickland, Alleene;
- Gonzalez, Michael A.;
- Baumbach-Reardon, Lisa;
- Deconinck, Tine;
- Jia Huang;
- Bernardi, Giorgio;
- Vance, Jeffery M.;
- Rogers, Mark T.;
- Tsuji, Shoji;
- De Jonghe, Peter
Publication type:
Article
In vivo methylation of mtDNA reveals the dynamics of protein–mtDNA interactions.
Published in:
Nucleic Acids Research, 2009, v. 37, n. 20, p. 6701, doi. 10.1093/nar/gkp727
By:
- Rebelo, Adriana P.;
- Williams, Sion L.;
- Moraes, Carlos T.
Publication type:
Article
Deep structured learning for variant prioritization in Mendelian diseases.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39306-7
By:
- Danzi, Matt C.;
- Dohrn, Maike F.;
- Fazal, Sarah;
- Beijer, Danique;
- Rebelo, Adriana P.;
- Cintra, Vivian;
- Züchner, Stephan
Publication type:
Article
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.
Published in:
2024
By:
- Dohrn, Maike F.;
- Bademci, Guney;
- Rebelo, Adriana P.;
- Jeanne, Médéric;
- Borja, Nicholas A.;
- Beijer, Danique;
- Danzi, Matt C.;
- Bivona, Stephanie A.;
- Gueguen, Paul;
- Zafeer, Mohammad F.;
- Tekin, Mustafa;
- Züchner, Stephan;
- Acosta, Maria T.;
- Adams, David R.;
- Afzali, Ben;
- Allworth, Aimee;
- Alvarez, Raquel L.;
- Alvey, Justin;
- Andrews, Ashley;
- Ashley, Euan A.
Publication type:
Case Study
Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 521, doi. 10.1111/cge.13668
By:
- Stregapede, Fabrizia;
- Travaglini, Lorena;
- Rebelo, Adriana P.;
- Cintra, Vivian Pedigone;
- Bellacchio, Emanuele;
- Bosco, Luca;
- Alfieri, Paolo;
- Pro, Stefano;
- Zuchner, Stephan;
- Bertini, Enrico;
- Nicita, Francesco
Publication type:
Article
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
Published in:
2019
By:
- Tao, Feifei;
- Beecham, Gary W.;
- Rebelo, Adriana P.;
- Svaren, John;
- Blanton, Susan H.;
- Moran, John J.;
- Lopez‐Anido, Camila;
- Morrow, Jasper M.;
- Abreu, Lisa;
- Rizzo, Devon;
- Kirk, Callyn A.;
- Wu, Xingyao;
- Feely, Shawna;
- Verhamme, Camiel;
- Saporta, Mario A.;
- Herrmann, David N.;
- Day, John W.;
- Sumner, Charlotte J.;
- Lloyd, Thomas E.;
- Li, Jun
Publication type:
journal article
The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease.
Published in:
Journal of Neurology, 2023, v. 270, n. 5, p. 2576, doi. 10.1007/s00415-023-11581-w
By:
- Cinarli Yuksel, Feride;
- Nicolaou, Paschalis;
- Spontarelli, Kerri;
- Dohrn, Maike F.;
- Rebelo, Adriana P.;
- Koutsou, Pantelitsa;
- Georghiou, Anthi;
- Artigas, Pablo;
- Züchner, Stephan L.;
- Kleopa, Kleopas A.;
- Christodoulou, Kyproula
Publication type:
Article
Novel variant in CADM3 causes Charcot-Marie-Tooth disease.
Published in:
Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad227
By:
- Yalcouyé, Abdoulaye;
- Rebelo, Adriana P.;
- Cissé, Lassana;
- Rives, Lynette;
- Bamba, Salia;
- Cogan, Joy;
- Esoh, Kevin;
- Diarra, Salimata;
- Ezell, Kimberly M.;
- Taméga, Abdoulaye;
- Guinto, Cheick O.;
- Dohrn, Maike F.;
- Hamid, Rizwan;
- Fischbeck, Kenneth H.;
- Zuchner, Stephan;
- Landouré, Guida
Publication type:
Article
Insights into the genotype‐phenotype correlation and molecular function of SLC25A46.
Published in:
Human Mutation, 2018, v. 39, n. 12, p. 1995, doi. 10.1002/humu.23639
By:
- Abrams, Alexander J.;
- Fontanesi, Flavia;
- Tan, Natalie B. L.;
- Buglo, Elena;
- Campeanu, Ion J.;
- Rebelo, Adriana P.;
- Kornberg, Andrew J.;
- Phelan, Dean G.;
- Stark, Zornitza;
- Zuchner, Stephan
Publication type:
Article
The role of PGC-1 coactivators in aging skeletal muscle and heart.
Published in:
IUBMB Life, 2012, v. 64, n. 3, p. 231, doi. 10.1002/iub.608
By:
- Dillon, Lloye M.;
- Rebelo, Adriana P.;
- Moraes, Carlos T.
Publication type:
Article
The role of PGC-1 coactivators in aging skeletal muscle and heart.
Published in:
IUBMB Life, 2012, v. 64, n. 3, p. spcone, doi. 10.1002/iub.1010
By:
- Dillon, Lloye M.;
- Rebelo, Adriana P.;
- Moraes, Carlos T.
Publication type:
Article
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A.
Published in:
Journal of the Peripheral Nervous System, 2024, v. 29, n. 2, p. 202, doi. 10.1111/jns.12621
By:
- 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.
Publication type:
Article
POLG mutations presenting as Charcot‐Marie‐Tooth disease.
Published in:
Journal of the Peripheral Nervous System, 2019, v. 24, n. 2, p. 213, doi. 10.1111/jns.12313
By:
- Phillips, Jade;
- Bardakjian, Tanya;
- Dankwa, Lois;
- Hamedani, Ali G.;
- Scherer, Steven S.;
- Courel, Steve;
- Rebelo, Adriana P.;
- Bis‐Brewer, Dana M.;
- Züchner, Stephan
Publication type:
Article
Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model.
Published in:
Journal of the Peripheral Nervous System, 2014, v. 19, n. 2, p. 152, doi. 10.1111/jns5.12066
By:
- Strickland, Alleene V.;
- Rebelo, Adriana P.;
- Zhang, Fan;
- Price, Justin;
- Bolon, Brad;
- Silva, Jose P.;
- Wen, Rong;
- Züchner, Stephan
Publication type:
Article

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