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Modelling Neuromuscular Diseases in the Age of Precision Medicine.

Journal of personalized medicine

Speciale AA, Ellerington R, Goedert T, Rinaldi C.
PMID: 33080928
J Pers Med. 2020 Oct 17;10(4). doi: 10.3390/jpm10040178.

Advances in knowledge resulting from the sequencing of the human genome, coupled with technological developments and a deeper understanding of disease mechanisms of pathogenesis are paving the way for a growing role of precision medicine in the treatment of...

Cite
Speciale AA, Ellerington R, Goedert T, et al. Modelling Neuromuscular Diseases in the Age of Precision Medicine. J Pers Med. 2020;10(4)doi: 10.3390/jpm10040178.
Speciale, A. A., Ellerington, R., Goedert, T., & Rinaldi, C. (2020). Modelling Neuromuscular Diseases in the Age of Precision Medicine. Journal of personalized medicine, 10(4), . https://doi.org/10.3390/jpm10040178
Speciale, Alfina A, et al. "Modelling Neuromuscular Diseases in the Age of Precision Medicine." Journal of personalized medicine vol. 10,4 (2020). doi: https://doi.org/10.3390/jpm10040178
Speciale AA, Ellerington R, Goedert T, Rinaldi C. Modelling Neuromuscular Diseases in the Age of Precision Medicine. J Pers Med. 2020 Oct 17;10(4). doi: 10.3390/jpm10040178. PMID: 33080928; PMCID: PMC7712305.
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Variants in .

Brain communications

Bott LC, Forouhan M, Lieto M, Sala AJ, Ellerington R, Johnson JO, Speciale AA, Criscuolo C, Filla A, Chitayat D, Alkhunaizi E, Shannon P, Nemeth AH, Angelucci F, Lim WF, Striano P, Zara F, Helbig I, Muona M, Courage C, Lehesjoki AE, Berkovic SF, Fischbeck KH, Brancati F, Morimoto RI, Wood MJA, Rinaldi C.
PMID: 34909687
Brain Commun. 2021 Oct 18;3(4):fcab245. doi: 10.1093/braincomms/fcab245. eCollection 2021.

The vacuolar H

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Bott LC, Forouhan M, Lieto M, et al. Variants in . Brain Commun. 2021;3(4):fcab245doi: 10.1093/braincomms/fcab245.
Bott, L. C., Forouhan, M., Lieto, M., Sala, A. J., Ellerington, R., Johnson, J. O., Speciale, A. A., Criscuolo, C., Filla, A., Chitayat, D., Alkhunaizi, E., Shannon, P., Nemeth, A. H., Angelucci, F., Lim, W. F., Striano, P., Zara, F., Helbig, I., Muona, M., Courage, C., Lehesjoki, A. E., Berkovic, S. F., Fischbeck, K. H., Brancati, F., Morimoto, R. I., Wood, M. J. A., & Rinaldi, C. (2021). Variants in . Brain communications, 3(4), fcab245. https://doi.org/10.1093/braincomms/fcab245
Bott, Laura C, et al. "Variants in ." Brain communications vol. 3,4 (2021): fcab245. doi: https://doi.org/10.1093/braincomms/fcab245
Bott LC, Forouhan M, Lieto M, Sala AJ, Ellerington R, Johnson JO, Speciale AA, Criscuolo C, Filla A, Chitayat D, Alkhunaizi E, Shannon P, Nemeth AH, Angelucci F, Lim WF, Striano P, Zara F, Helbig I, Muona M, Courage C, Lehesjoki AE, Berkovic SF, Fischbeck KH, Brancati F, Morimoto RI, Wood MJA, Rinaldi C. Variants in . Brain Commun. 2021 Oct 18;3(4):fcab245. doi: 10.1093/braincomms/fcab245. eCollection 2021. PMID: 34909687; PMCID: PMC8665645.
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Variants in .

Brain communications

Bott LC, Forouhan M, Lieto M, Sala AJ, Ellerington R, Johnson JO, Speciale AA, Criscuolo C, Filla A, Chitayat D, Alkhunaizi E, Shannon P, Nemeth AH, Angelucci F, Lim WF, Striano P, Zara F, Helbig I, Muona M, Courage C, Lehesjoki AE, Berkovic SF, Fischbeck KH, Brancati F, Morimoto RI, Wood MJA, Rinaldi C.
PMID: 34909687
Brain Commun. 2021 Oct 18;3(4):fcab245. doi: 10.1093/braincomms/fcab245. eCollection 2021.

The vacuolar H

Cite
Bott LC, Forouhan M, Lieto M, et al. Variants in . Brain Commun. 2021;3(4):fcab245doi: 10.1093/braincomms/fcab245.
Bott, L. C., Forouhan, M., Lieto, M., Sala, A. J., Ellerington, R., Johnson, J. O., Speciale, A. A., Criscuolo, C., Filla, A., Chitayat, D., Alkhunaizi, E., Shannon, P., Nemeth, A. H., Angelucci, F., Lim, W. F., Striano, P., Zara, F., Helbig, I., Muona, M., Courage, C., Lehesjoki, A. E., Berkovic, S. F., Fischbeck, K. H., Brancati, F., Morimoto, R. I., Wood, M. J. A., & Rinaldi, C. (2021). Variants in . Brain communications, 3(4), fcab245. https://doi.org/10.1093/braincomms/fcab245
Bott, Laura C, et al. "Variants in ." Brain communications vol. 3,4 (2021): fcab245. doi: https://doi.org/10.1093/braincomms/fcab245
Bott LC, Forouhan M, Lieto M, Sala AJ, Ellerington R, Johnson JO, Speciale AA, Criscuolo C, Filla A, Chitayat D, Alkhunaizi E, Shannon P, Nemeth AH, Angelucci F, Lim WF, Striano P, Zara F, Helbig I, Muona M, Courage C, Lehesjoki AE, Berkovic SF, Fischbeck KH, Brancati F, Morimoto RI, Wood MJA, Rinaldi C. Variants in . Brain Commun. 2021 Oct 18;3(4):fcab245. doi: 10.1093/braincomms/fcab245. eCollection 2021. PMID: 34909687; PMCID: PMC8665645.
Copy Download .nbib Format: NLM
Variants in .

Brain communications

Bott LC, Forouhan M, Lieto M, Sala AJ, Ellerington R, Johnson JO, Speciale AA, Criscuolo C, Filla A, Chitayat D, Alkhunaizi E, Shannon P, Nemeth AH, Angelucci F, Lim WF, Striano P, Zara F, Helbig I, Muona M, Courage C, Lehesjoki AE, Berkovic SF, Fischbeck KH, Brancati F, Morimoto RI, Wood MJA, Rinaldi C.
PMID: 34909687
Brain Commun. 2021 Oct 18;3(4):fcab245. doi: 10.1093/braincomms/fcab245. eCollection 2021.

The vacuolar H

Cite
Bott LC, Forouhan M, Lieto M, et al. Variants in . Brain Commun. 2021;3(4):fcab245doi: 10.1093/braincomms/fcab245.
Bott, L. C., Forouhan, M., Lieto, M., Sala, A. J., Ellerington, R., Johnson, J. O., Speciale, A. A., Criscuolo, C., Filla, A., Chitayat, D., Alkhunaizi, E., Shannon, P., Nemeth, A. H., Angelucci, F., Lim, W. F., Striano, P., Zara, F., Helbig, I., Muona, M., Courage, C., Lehesjoki, A. E., Berkovic, S. F., Fischbeck, K. H., Brancati, F., Morimoto, R. I., Wood, M. J. A., & Rinaldi, C. (2021). Variants in . Brain communications, 3(4), fcab245. https://doi.org/10.1093/braincomms/fcab245
Bott, Laura C, et al. "Variants in ." Brain communications vol. 3,4 (2021): fcab245. doi: https://doi.org/10.1093/braincomms/fcab245
Bott LC, Forouhan M, Lieto M, Sala AJ, Ellerington R, Johnson JO, Speciale AA, Criscuolo C, Filla A, Chitayat D, Alkhunaizi E, Shannon P, Nemeth AH, Angelucci F, Lim WF, Striano P, Zara F, Helbig I, Muona M, Courage C, Lehesjoki AE, Berkovic SF, Fischbeck KH, Brancati F, Morimoto RI, Wood MJA, Rinaldi C. Variants in . Brain Commun. 2021 Oct 18;3(4):fcab245. doi: 10.1093/braincomms/fcab245. eCollection 2021. PMID: 34909687; PMCID: PMC8665645.
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Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity.

Science advances

Lim WF, Forouhan M, Roberts TC, Dabney J, Ellerington R, Speciale AA, Manzano R, Lieto M, Sangha G, Banerjee S, Conceição M, Cravo L, Biscans A, Roux L, Pourshafie N, Grunseich C, Duguez S, Khvorova A, Pennuto M, Cortes CJ, La Spada AR, Fischbeck KH, Wood MJA, Rinaldi C.
PMID: 34417184
Sci Adv. 2021 Aug 20;7(34). doi: 10.1126/sciadv.abi6896. Print 2021 Aug.

Spinal and bulbar muscular atrophy (SBMA) is an X-linked, adult-onset neuromuscular condition caused by an abnormal polyglutamine (polyQ) tract expansion in androgen receptor (AR) protein. SBMA is a disease with high unmet clinical need. Recent studies have shown that...

Cite
Lim WF, Forouhan M, Roberts TC, et al. Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity. Sci Adv. 2021;7(34)doi: 10.1126/sciadv.abi6896.
Lim, W. F., Forouhan, M., Roberts, T. C., Dabney, J., Ellerington, R., Speciale, A. A., Manzano, R., Lieto, M., Sangha, G., Banerjee, S., Conceição, M., Cravo, L., Biscans, A., Roux, L., Pourshafie, N., Grunseich, C., Duguez, S., Khvorova, A., Pennuto, M., Cortes, C. J., La Spada, A. R., Fischbeck, K. H., Wood, M. J. A., & Rinaldi, C. (2021). Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity. Science advances, 7(34), . https://doi.org/10.1126/sciadv.abi6896
Lim, Wooi F, et al. "Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity." Science advances vol. 7,34 (2021). doi: https://doi.org/10.1126/sciadv.abi6896
Lim WF, Forouhan M, Roberts TC, Dabney J, Ellerington R, Speciale AA, Manzano R, Lieto M, Sangha G, Banerjee S, Conceição M, Cravo L, Biscans A, Roux L, Pourshafie N, Grunseich C, Duguez S, Khvorova A, Pennuto M, Cortes CJ, La Spada AR, Fischbeck KH, Wood MJA, Rinaldi C. Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity. Sci Adv. 2021 Aug 20;7(34). doi: 10.1126/sciadv.abi6896. Print 2021 Aug. PMID: 34417184; PMCID: PMC8378820.
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Showing 1 to 5 of 5 entries