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Genetic defects are common in myopathies with tubular aggregates.

Annals of clinical and translational neurology

Gang Q, Bettencourt C, Brady S, Holton JL, Healy EG, McConville J, Morrison PJ, Ripolone M, Violano R, Sciacco M, Moggio M, Mora M, Mantegazza R, Zanotti S, Wang Z, Yuan Y, Liu WW, Beeson D, Hanna M, Houlden H.
PMID: 34908252
Ann Clin Transl Neurol. 2021 Dec 15; doi: 10.1002/acn3.51477. Epub 2021 Dec 15.

OBJECTIVE: A group of genes have been reported to be associated with myopathies with tubular aggregates (TAs). Many cases with TAs still lack of genetic clarification. This study aims to explore the genetic background of cases with TAs in...

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Gang Q, Bettencourt C, Brady S, et al. Genetic defects are common in myopathies with tubular aggregates. Ann Clin Transl Neurol. 2021;doi: 10.1002/acn3.51477.
Gang, Q., Bettencourt, C., Brady, S., Holton, J. L., Healy, E. G., McConville, J., Morrison, P. J., Ripolone, M., Violano, R., Sciacco, M., Moggio, M., Mora, M., Mantegazza, R., Zanotti, S., Wang, Z., Yuan, Y., Liu, W. W., Beeson, D., Hanna, M., & Houlden, H. (2021). Genetic defects are common in myopathies with tubular aggregates. Annals of clinical and translational neurology, . https://doi.org/10.1002/acn3.51477
Gang, Qiang, et al. "Genetic defects are common in myopathies with tubular aggregates." Annals of clinical and translational neurology vol. (2021). doi: https://doi.org/10.1002/acn3.51477
Gang Q, Bettencourt C, Brady S, Holton JL, Healy EG, McConville J, Morrison PJ, Ripolone M, Violano R, Sciacco M, Moggio M, Mora M, Mantegazza R, Zanotti S, Wang Z, Yuan Y, Liu WW, Beeson D, Hanna M, Houlden H. Genetic defects are common in myopathies with tubular aggregates. Ann Clin Transl Neurol. 2021 Dec 15; doi: 10.1002/acn3.51477. Epub 2021 Dec 15. PMID: 34908252.
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Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Human mutation

Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk C, Iwanicka-Pronicka K, Piekutowska-Abramczuk D, Ciara E, Tort F, Sheidley B, Poduri A, Jayakar P, Jayakar A, Upadia J, Walano N, Haack TB, Prokisch H, Aldhalaan H, Karimiani EG, Yildiz Y, Ceylan AC, Santiago-Sim T, Dameron A, Yang H, Toosi MB, Ashrafzadeh F, Akhondian J, Imannezhad S, Mirzadeh HS, Maqbool S, Farid A, Al-Muhaizea MA, Alshwameen MO, Aldowsari L, Alsagob M, Alyousef A, AlMass R, AlHargan A, Alwadei AH, AlRasheed MM, Colak D, Alqudairy H, Khan S, Lines MA, García Cazorla MÁ, Ribes A, Morava E, Bibi F, Haider S, Ferla MP, Taylor JC, Alsaif HS, Firdous A, Hashem M, Shashkin C, Koneev K, Kaiyrzhanov R, Efthymiou S, Genomics QS, Schmitt-Mechelke T, Ziegler A, Issa MY, Elbendary HM, Striano P, Alkuraya FS, Zaki MS, Gleeson JG, Barakat TS, Bierau J, van der Knaap MS, Maroofian R, Houlden H.
PMID: 34989426
Hum Mutat. 2022 Jan 06; doi: 10.1002/humu.24326. Epub 2022 Jan 06.

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analyzing...

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Scala M, Wortmann SB, Kaya N, et al. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum Mutat. 2022;doi: 10.1002/humu.24326.
Scala, M., Wortmann, S. B., Kaya, N., Stellingwerff, M. D., Pistorio, A., Glamuzina, E., van Karnebeek, C. D., Skrypnyk, C., Iwanicka-Pronicka, K., Piekutowska-Abramczuk, D., Ciara, E., Tort, F., Sheidley, B., Poduri, A., Jayakar, P., Jayakar, A., Upadia, J., Walano, N., Haack, T. B., Prokisch, H., Aldhalaan, H., Karimiani, E. G., Yildiz, Y., Ceylan, A. C., Santiago-Sim, T., Dameron, A., Yang, H., Toosi, M. B., Ashrafzadeh, F., Akhondian, J., Imannezhad, S., Mirzadeh, H. S., Maqbool, S., Farid, A., Al-Muhaizea, M. A., Alshwameen, M. O., Aldowsari, L., Alsagob, M., Alyousef, A., AlMass, R., AlHargan, A., Alwadei, A. H., AlRasheed, M. M., Colak, D., Alqudairy, H., Khan, S., Lines, M. A., García Cazorla, M. �. �., Ribes, A., Morava, E., Bibi, F., Haider, S., Ferla, M. P., Taylor, J. C., Alsaif, H. S., Firdous, A., Hashem, M., Shashkin, C., Koneev, K., Kaiyrzhanov, R., Efthymiou, S., Genomics, Q. S., Schmitt-Mechelke, T., Ziegler, A., Issa, M. Y., Elbendary, H. M., Striano, P., Alkuraya, F. S., Zaki, M. S., Gleeson, J. G., Barakat, T. S., Bierau, J., van der Knaap, M. S., Maroofian, R., & Houlden, H. (2022). Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Human mutation, . https://doi.org/10.1002/humu.24326
Scala, Marcello, et al. "Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency." Human mutation vol. (2022). doi: https://doi.org/10.1002/humu.24326
Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk C, Iwanicka-Pronicka K, Piekutowska-Abramczuk D, Ciara E, Tort F, Sheidley B, Poduri A, Jayakar P, Jayakar A, Upadia J, Walano N, Haack TB, Prokisch H, Aldhalaan H, Karimiani EG, Yildiz Y, Ceylan AC, Santiago-Sim T, Dameron A, Yang H, Toosi MB, Ashrafzadeh F, Akhondian J, Imannezhad S, Mirzadeh HS, Maqbool S, Farid A, Al-Muhaizea MA, Alshwameen MO, Aldowsari L, Alsagob M, Alyousef A, AlMass R, AlHargan A, Alwadei AH, AlRasheed MM, Colak D, Alqudairy H, Khan S, Lines MA, García Cazorla MÁ, Ribes A, Morava E, Bibi F, Haider S, Ferla MP, Taylor JC, Alsaif HS, Firdous A, Hashem M, Shashkin C, Koneev K, Kaiyrzhanov R, Efthymiou S, Genomics QS, Schmitt-Mechelke T, Ziegler A, Issa MY, Elbendary HM, Striano P, Alkuraya FS, Zaki MS, Gleeson JG, Barakat TS, Bierau J, van der Knaap MS, Maroofian R, Houlden H. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum Mutat. 2022 Jan 06; doi: 10.1002/humu.24326. Epub 2022 Jan 06. PMID: 34989426.
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Showing 1 to 2 of 2 entries