Zobrazeno 1 - 10
of 63
pro vyhledávání: '"David, Kronn"'
Autor:
Priya S. Kishnani, David Kronn, Shugo Suwazono, Alexander Broomfield, Juan Llerena, Zuhair Nasser Al-Hassnan, Julie L. Batista, Kathryn M. Wilson, Magali Periquet, Nadia Daba, Andreas Hahn, Yin-Hsiu Chien
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
Abstract Background Studies indicate that doses of alglucosidase alfa (ALGLU) higher than label dose (20 mg/kg every other week) improve clinical outcomes in infantile-onset Pompe disease (IOPD). We investigated data from the Pompe Registry to determ
Externí odkaz:
https://doaj.org/article/f51edb17c7c14d7581ff804925e1d0d8
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100759- (2023)
Externí odkaz:
https://doaj.org/article/42f35f3736ee4232a0f2807e45c50796
Autor:
Tina, Duong, Priya S, Kishnani, Kristina, An Haack, Meredith C, Foster, James B, Gibson, Catherine, Wilson, Si Houn, Hahn, Richard, Hillman, David, Kronn, Nancy D, Leslie, Loren D M, Peña, Susan E, Sparks, David W, Stockton, Pranoot, Tanpaiboon, John W, Day
Publikováno v:
Journal of Neuromuscular Diseases. 9:713-730
Background: ADVANCE (NCT01526785) presented an opportunity to obtain a more nuanced understanding of motor function changes in treatment-experienced children with Pompe disease receiving 4000L-production-scale alglucosidase alfa for 52 weeks. Objecti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61506990a232a0cdf6bf04e87c605f31
https://doi.org/10.3233/jnd-210784
https://doi.org/10.3233/jnd-210784
Autor:
Nehal Shah, Anthony Tucker-Bartley, David Kronn, Miranda Veliu, Frank Birklein, Andrea D Gomez-Morad, Jordan Lemme, Eduard Kraft, Claudia Storz, Seward B. Rutkove, Alison M. Boyce, Jaymin Upadhyay
Publikováno v:
Neurosci Biobehav Rev
For patients diagnosed with a rare musculoskeletal or neuromuscular disease, pain may transition from acute to chronic; the latter yielding additional challenges for both patients and care providers. We assessed the present understanding of pain acro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73f39d64b6305206ae5a1982173a1bd8
https://doi.org/10.1016/j.neubiorev.2021.02.009
https://doi.org/10.1016/j.neubiorev.2021.02.009
Autor:
Priya S. Kishnani, David Kronn, Anaïs Brassier, Alexander Broomfield, James Davison, Si Houn Hahn, Satoko Kumada, François Labarthe, Hirotaka Ohki, Samia Pichard, S. Grace Prakalapakorn, Kristina An Haack, Barbara Kittner, Xianzhang Meng, Susan Sparks, Catherine Wilson, Atef Zaher, Yin-Hsiu Chien
Publikováno v:
Genetics in Medicine. 25:100328
Mini-COMET (NCT03019406; Sanofi) is a phase 2, open-label, ascending-dose, 3-cohort study, evaluating avalglucosidase alfa safety, pharmacokinetics, and efficacy in individuals with infantile-onset Pompe disease aged18 years who previously received a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dfd2b700aa0f6b5df23e98bb704be7f
https://doi.org/10.1016/j.gim.2022.10.010
https://doi.org/10.1016/j.gim.2022.10.010
Autor:
Priya S. Kishnani, Marguerite C. Weinert, James Davison, Alexander Broomfield, Yin-Hsiu Chien, Sihoun Hahn, David Kronn, Satoko Kumada, Hirotaka Ohki, Samia Pichard, Kristina An Haack, Swathi Tammireddy, Tianyue Zhou, Sasapin G. Prakalapakorn
Publikováno v:
Molecular Genetics and Metabolism. 138:107186
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f1b5c23203bde0c5ef6bb624fb083ad
https://doi.org/10.1016/j.ymgme.2022.107186
https://doi.org/10.1016/j.ymgme.2022.107186
Autor:
David Kronn, James Davison, Anaïs Brassier, Alexander Broomfield, Si Houn Hahn, Satoko Kumada, François Labarthe, Hirotaka Ohki, S. Grace Prakalapakorn, Kristina An Haack, Xianzhang Meng, Susan Sparks, Swathi Tammireddy, Catherine Wilson, Atef Zaher, Tianyue Zhou, Yin-Hsiu Chien, Priya Kishnani, null On behalf of the Mini-COMET investigators
Publikováno v:
Genetics in Medicine. 24:S348-S349
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4c53816480b685094741b400521af0af
https://doi.org/10.1016/j.gim.2022.01.566
https://doi.org/10.1016/j.gim.2022.01.566
Autor:
David Kronn, Kristina An Haack, James B. Gibson, Si Houn Hahn, Meredith C. Foster, Raymond Y. Wang, Pranoot Tanpaiboon, David W. Stockton, Priya S. Kishnani, Barry J. Byrne, Steven D. Colan, Loren D.M. Pena, Judith Johnson, Susan Sparks, Nancy D. Leslie, Richard Hillman
Publikováno v:
Cardiology in the young. 32(3)
Pompe disease results from lysosomal acid α-glucosidase deficiency, which leads to cardiomyopathy in all infantile-onset and occasional late-onset patients. Cardiac assessment is important for its diagnosis and management. This article presents unpu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4c49cc75035795f7f43d93fd7526957
https://pubmed.ncbi.nlm.nih.gov/34420548
https://pubmed.ncbi.nlm.nih.gov/34420548
Autor:
Yang Zhao, Raymond Y. Wang, Nancy D. Leslie, Priya S. Kishnani, David Kronn, Jennifer L. Goldstein, John W. Day, James B. Gibson, Kristina An Haack, Susan Sparks, David W. Stockton, Pranoot Tanpaiboon, Loren D.M. Pena, Si Houn Hahn, Richard Hillman, Michael J. Gambello
Publikováno v:
Genetics in Medicine
Purpose To characterize clinical characteristics and genotypes of patients in the ADVANCE study of 4000 L-scale alglucosidase alfa (NCT01526785), the largest prospective United States Pompe disease cohort to date. Methods Patients aged ≥1 year with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23e5f6bddac6c1bf107ecaba20545014
https://doi.org/10.1038/s41436-019-0527-9
https://doi.org/10.1038/s41436-019-0527-9
Autor:
Rhonda E. Schnur, Fabio Sirchia, Olga Levchenko, Caroline Nava, Jane Juusola, Sarah Verheyen, Marketa Vlckova, Lindsay Rhodes, Gregory M. Cooper, Darina Prchalova, Thomas Courtin, Øystein L. Holla, David Kronn, Akemi J. Tanaka, E. Martina Bebin, Tara Funari, Miroslava Hancarova, Ennio Del Giudice, Nicolas Guex, Astrid Eisenkölbl, Dawn L. Earl, Toshiki Takenouchi, Ursula Gruber-Sedlmayr, Sedlácek Z, Sofia Douzgou, Heidelis A. Seebacher, Gerarda Cappuccio, Jasmin Blatterer, Anna Mikhaleva, Dian Donnai, Wendy K. Chung, Else Merckoll, Natasha J Brown, Elizabeth A. Sellars, Stefan Mundlos, Susan M. Hiatt, Giuliana Giannuzzi, Sinje Geuer, Giuseppina Vitiello, Séverine Lorrain, Alexandre Reymond, David J. Amor, Nicolas Chatron, Julien Delafontaine, Martine Doco, Kristian Tveten, Cecilie F. Rustad, Sylvain Pradervand, Delphine Héron, Alfredo Brusco, Elena L. Dadali, Nicola Brunetti-Pierri, Boris Keren, Yuri A. Zarate, Crystle Lee, Joel Charrow, Binnaz Yalcin, Heidi Taska-Tench, Elin Tønne, Tomoko Uehara, Alexander Lavrov, Jennifer Norman, Norine Voisin, Anna C.E. Hurst, Victoria R. Sanders, Ganka Douglas, Diana Johnson, Kenjiro Kosaki
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 2021, 108, pp.857-873. ⟨10.1016/j.ajhg.2021.04.001⟩
Am J Hum Genet
American Journal of Human Genetics, 2021, 108, pp.857-873. ⟨10.1016/j.ajhg.2021.04.001⟩
Am J Hum Genet
International audience; The ALF transcription factor paralogs, AFF1, AFF2, AFF3, and AFF4, are components of the transcriptional super elongation complex that regulates expression of genes involved in neurogenesis and development. We describe an auto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bdc2a9f1f9c07fc6b814c2617df3bcc
http://hdl.handle.net/2318/1789646
http://hdl.handle.net/2318/1789646
