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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1977 1
1978 1
1981 1
1984 1
1986 1
1989 2
1990 2
1991 3
1992 3
1993 4
1994 3
1995 4
1996 3
1997 7
1998 2
1999 5
2000 6
2001 5
2002 7
2003 5
2004 5
2005 9
2006 7
2007 10
2008 17
2009 18
2010 21
2011 15
2012 17
2013 22
2014 20
2015 26
2016 14
2017 15
2018 16
2019 16
2020 21
2021 20
2022 18
2023 13
2024 9

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341 results

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Page 1
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.
Archives de pédiatrie : quelle revue pour demain ?
Chabrol B, Delacourt C, Sarles J. Chabrol B, et al. Arch Pediatr. 2017 Mar;24(3):209-210. doi: 10.1016/j.arcped.2017.02.001. Arch Pediatr. 2017. PMID: 28262201 French. No abstract available.
What's next in Neuropediatrics in 2019.
Chabrol B, N'Guyen S. Chabrol B, et al. Rev Neurol (Paris). 2020 Jan-Feb;176(1-2):1. doi: 10.1016/j.neurol.2019.09.003. Epub 2019 Oct 11. Rev Neurol (Paris). 2020. PMID: 31611007 No abstract available.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnière R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabó A, Sümegi K, Cossée M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H; Genomics England Research Consortium. Morsy H, et al. Among authors: chabrol b. Genet Med. 2023 Jan;25(1):76-89. doi: 10.1016/j.gim.2022.09.013. Epub 2022 Nov 4. Genet Med. 2023. PMID: 36331550 Free PMC article.
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.
Infantile spinal muscular atrophy (SMA).
Chabrol B, Desguerre I. Chabrol B, et al. Arch Pediatr. 2020 Dec;27(7S):7S1-7S2. doi: 10.1016/S0929-693X(20)30268-2. Arch Pediatr. 2020. PMID: 33357590 No abstract available.
Neuronal ceroid lipofuscinoses.
Chabrol B, Caillaud C, Minassian B. Chabrol B, et al. Handb Clin Neurol. 2013;113:1701-6. doi: 10.1016/B978-0-444-59565-2.00038-1. Handb Clin Neurol. 2013. PMID: 23622391 Review.
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E; Clinical Evaluator Training Group; ACT DMD Study Group. McDonald CM, et al. Lancet. 2017 Sep 23;390(10101):1489-1498. doi: 10.1016/S0140-6736(17)31611-2. Epub 2017 Jul 17. Lancet. 2017. PMID: 28728956 Clinical Trial.
[Muscular dystrophies: From Duchenne to Becker].
Chabrol B, Desguerre I. Chabrol B, et al. Arch Pediatr. 2015 Dec;22(12 Suppl 1):12S1-2. doi: 10.1016/S0929-693X(16)30001-X. Arch Pediatr. 2015. PMID: 26773579 French. No abstract available.
[Mucopolysaccharidoses: diagnosis and management].
Chabrol B, Cano A. Chabrol B, et al. Arch Pediatr. 2014 Jun;21 Suppl 1:S1-3. doi: 10.1016/S0929-693X(14)72252-3. Arch Pediatr. 2014. PMID: 25063378 French. No abstract available.
341 results