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The attitude of patients with progressive ataxias towards clinical trials.

Orphanet journal of rare diseases

Thomas-Black G, Dumitrascu A, Garcia-Moreno H, Vallortigara J, Greenfield J, Hunt B, Walther S, Wells M, Lynch DR, Montgomery H, Giunti P.
PMID: 34983593
Orphanet J Rare Dis. 2022 Jan 04;17(1):1. doi: 10.1186/s13023-021-02091-x.

BACKGROUND: The development of new therapies may rely on the conduct of human experimentation as well as later clinical trials of therapeutic interventions. Ethical considerations seek to protect the patient from risk but few have sought to ascertain the...

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Thomas-Black G, Dumitrascu A, Garcia-Moreno H, et al. The attitude of patients with progressive ataxias towards clinical trials. Orphanet J Rare Dis. 2022;17(1):1doi: 10.1186/s13023-021-02091-x.
Thomas-Black, G., Dumitrascu, A., Garcia-Moreno, H., Vallortigara, J., Greenfield, J., Hunt, B., Walther, S., Wells, M., Lynch, D. R., Montgomery, H., & Giunti, P. (2022). The attitude of patients with progressive ataxias towards clinical trials. Orphanet journal of rare diseases, 17(1), 1. https://doi.org/10.1186/s13023-021-02091-x
Thomas-Black, Gilbert, et al. "The attitude of patients with progressive ataxias towards clinical trials." Orphanet journal of rare diseases vol. 17,1 (2022): 1. doi: https://doi.org/10.1186/s13023-021-02091-x
Thomas-Black G, Dumitrascu A, Garcia-Moreno H, Vallortigara J, Greenfield J, Hunt B, Walther S, Wells M, Lynch DR, Montgomery H, Giunti P. The attitude of patients with progressive ataxias towards clinical trials. Orphanet J Rare Dis. 2022 Jan 04;17(1):1. doi: 10.1186/s13023-021-02091-x. PMID: 34983593.
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The attitude of patients with progressive ataxias towards clinical trials.

Orphanet journal of rare diseases

Thomas-Black G, Dumitrascu A, Garcia-Moreno H, Vallortigara J, Greenfield J, Hunt B, Walther S, Wells M, Lynch DR, Montgomery H, Giunti P.
PMID: 34983593
Orphanet J Rare Dis. 2022 Jan 04;17(1):1. doi: 10.1186/s13023-021-02091-x.

BACKGROUND: The development of new therapies may rely on the conduct of human experimentation as well as later clinical trials of therapeutic interventions. Ethical considerations seek to protect the patient from risk but few have sought to ascertain the...

Cite
Thomas-Black G, Dumitrascu A, Garcia-Moreno H, et al. The attitude of patients with progressive ataxias towards clinical trials. Orphanet J Rare Dis. 2022;17(1):1doi: 10.1186/s13023-021-02091-x.
Thomas-Black, G., Dumitrascu, A., Garcia-Moreno, H., Vallortigara, J., Greenfield, J., Hunt, B., Walther, S., Wells, M., Lynch, D. R., Montgomery, H., & Giunti, P. (2022). The attitude of patients with progressive ataxias towards clinical trials. Orphanet journal of rare diseases, 17(1), 1. https://doi.org/10.1186/s13023-021-02091-x
Thomas-Black, Gilbert, et al. "The attitude of patients with progressive ataxias towards clinical trials." Orphanet journal of rare diseases vol. 17,1 (2022): 1. doi: https://doi.org/10.1186/s13023-021-02091-x
Thomas-Black G, Dumitrascu A, Garcia-Moreno H, Vallortigara J, Greenfield J, Hunt B, Walther S, Wells M, Lynch DR, Montgomery H, Giunti P. The attitude of patients with progressive ataxias towards clinical trials. Orphanet J Rare Dis. 2022 Jan 04;17(1):1. doi: 10.1186/s13023-021-02091-x. PMID: 34983593; PMCID: PMC8729009.
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Trouble with ataxia: A longitudinal qualitative study of the diagnosis and medical management of a group of rare, progressive neurological conditions.

SAGE open medicine

Daker-White G, Ealing J, Greenfield J, Kingston H, Sanders C, Payne K.
PMID: 26770684
SAGE Open Med. 2013 Sep 28;1:2050312113505560. doi: 10.1177/2050312113505560. eCollection 2013.

OBJECTIVES: An exploratory investigation of diagnosis and management in progressive ataxias: rare neurological conditions usually affecting balance, mobility and speech.METHODS: A longitudinal qualitative study into the experiences of people with ataxia and neurologists. Thematic analysis and follow-up interviews were...

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Daker-White G, Ealing J, Greenfield J, et al. Trouble with ataxia: A longitudinal qualitative study of the diagnosis and medical management of a group of rare, progressive neurological conditions. SAGE Open Med. 2013;1:2050312113505560doi: 10.1177/2050312113505560.
Daker-White, G., Ealing, J., Greenfield, J., Kingston, H., Sanders, C., & Payne, K. (2013). Trouble with ataxia: A longitudinal qualitative study of the diagnosis and medical management of a group of rare, progressive neurological conditions. SAGE open medicine, 12050312113505560. https://doi.org/10.1177/2050312113505560
Daker-White, Gavin, et al. "Trouble with ataxia: A longitudinal qualitative study of the diagnosis and medical management of a group of rare, progressive neurological conditions." SAGE open medicine vol. 1 (2013): 2050312113505560. doi: https://doi.org/10.1177/2050312113505560
Daker-White G, Ealing J, Greenfield J, Kingston H, Sanders C, Payne K. Trouble with ataxia: A longitudinal qualitative study of the diagnosis and medical management of a group of rare, progressive neurological conditions. SAGE Open Med. 2013 Sep 28;1:2050312113505560. doi: 10.1177/2050312113505560. eCollection 2013. PMID: 26770684; PMCID: PMC4687766.
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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 4 of 4 entries