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Page 1
Showing results for colomer j
Search for Columer J instead (1 results)
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG; MYO-SEQ consortium; Straub V. Töpf A, et al. Genet Med. 2020 Sep;22(9):1478-1488. doi: 10.1038/s41436-020-0840-3. Epub 2020 Jun 11. Genet Med. 2020. PMID: 32528171 Free PMC article.
Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients.
McDonald CM, Muntoni F, Penematsa V, Jiang J, Kristensen A, Bibbiani F, Goodwin E, Gordish-Dressman H, Morgenroth L, Werner C, Li J, Able R, Trifillis P, Tulinius M; Study 019 investigators. McDonald CM, et al. J Comp Eff Res. 2022 Feb;11(3):139-155. doi: 10.2217/cer-2021-0196. Epub 2021 Nov 18. J Comp Eff Res. 2022. PMID: 34791888 Free PMC article. Clinical Trial.
The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study.
McDonald CM, Henricson EK, Abresch RT, Florence J, Eagle M, Gappmaier E, Glanzman AM; PTC124-GD-007-DMD Study Group; Spiegel R, Barth J, Elfring G, Reha A, Peltz SW. McDonald CM, et al. Muscle Nerve. 2013 Sep;48(3):357-68. doi: 10.1002/mus.23905. Epub 2013 Jul 17. Muscle Nerve. 2013. PMID: 23674289 Free PMC article. Clinical Trial.
Social paediatrics.
Spencer N, Colomer C, Alperstein G, Bouvier P, Colomer J, Duperrex O, Gokcay G, Julien G, Kohler L, Lindström B, Macfarlane A, Mercer R, Panagiotopoulos T, Schulpen T. Spencer N, et al. Among authors: colomer j. J Epidemiol Community Health. 2005 Feb;59(2):106-8. doi: 10.1136/jech.2003.017681. J Epidemiol Community Health. 2005. PMID: 15650140 Free PMC article.
[Sarcoglycanopathies].
Colomer J. Colomer J. Rev Neurol. 1999 Jan 16-31;28(2):150-3. Rev Neurol. 1999. PMID: 10101783 Review. Spanish.
Impact of COVID-19 infection on lung function and nutritional status amongst individuals with cystic fibrosis: A global cohort study.
Semenchuk J, Naito Y, Charman SC, Carr SB, Cheng SY, Marshall BC, Faro A, Elbert A, Gutierrez HH, Goss CH, Karadag B, Burgel PR, Colombo C, Salvatore M, Padoan R, Daneau G, Harutyunyan S, Kashirskaya N, Kirwan L, Middleton PG, Ruseckaite R, de Monestrol I, Naehrlich L, Mondejar-Lopez P, Jung A, van Rens J, Bakkeheim E, Orenti A, Zomer-van Ommen D, da Silva-Filho LVR, Fernandes FF, Zampoli M, Stephenson AL; Global CF Registry Collaboration. Semenchuk J, et al. J Cyst Fibros. 2024 Sep;23(5):815-822. doi: 10.1016/j.jcf.2024.07.019. Epub 2024 Aug 26. J Cyst Fibros. 2024. PMID: 39191560 Free article.
Clinicopathological features of genetically confirmed Danon disease.
Sugie K, Yamamoto A, Murayama K, Oh SJ, Takahashi M, Mora M, Riggs JE, Colomer J, Iturriaga C, Meloni A, Lamperti C, Saitoh S, Byrne E, DiMauro S, Nonaka I, Hirano M, Nishino I. Sugie K, et al. Among authors: colomer j. Neurology. 2002 Jun 25;58(12):1773-8. doi: 10.1212/wnl.58.12.1773. Neurology. 2002. PMID: 12084876 Review.
Corrigendum to "Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen"[ Eur. J. Paediatr. Neurol. (2021) 92-101].
Carrera-García L, Muchart J, Lazaro JJ, Expósito-Escudero J, Cuadras D, Medina J, Bosch de Basea M, Colomer J, Jimenez-Mallebrera C, Ortez C, Benito DN, Nascimento A. Carrera-García L, et al. Among authors: colomer j. Eur J Paediatr Neurol. 2022 Mar;37:167-168. doi: 10.1016/j.ejpn.2021.04.001. Epub 2021 Apr 15. Eur J Paediatr Neurol. 2022. PMID: 34429249 No abstract available.
256 results