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

Year Number of Results
1981 1
1985 1
1987 1
1990 1
1993 1
1996 2
1997 1
2001 3
2002 1
2003 1
2004 1
2005 3
2006 2
2007 3
2008 3
2009 3
2010 3
2011 4
2012 2
2013 8
2014 2
2015 8
2016 8
2017 7
2018 9
2019 11
2020 9
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2023 14
2024 3

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130 results

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Page 1
CRISPR Therapeutics for Duchenne Muscular Dystrophy.
Erkut E, Yokota T. Erkut E, et al. Int J Mol Sci. 2022 Feb 6;23(3):1832. doi: 10.3390/ijms23031832. Int J Mol Sci. 2022. PMID: 35163754 Free PMC article. Review.
DMD manifests as childhood-onset muscle degeneration, followed by loss of ambulation, cardiomyopathy, and death in early adulthood due to a lack of functional dystrophin protein. ...
DMD manifests as childhood-onset muscle degeneration, followed by loss of ambulation, cardiomyopathy, and death in earl …
Sarcoglycanopathies: an update.
Vainzof M, Souza LS, Gurgel-Giannetti J, Zatz M. Vainzof M, et al. Neuromuscul Disord. 2021 Oct;31(10):1021-1027. doi: 10.1016/j.nmd.2021.07.014. Epub 2021 Jul 28. Neuromuscul Disord. 2021. PMID: 34404573 Review.
Patients present muscle hypertrophy, elevated CK, variable muscle weaknesses, and progressive loss of ambulation. Four subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, caused, respectively, by mutations in the SGCA, SGCB,SGCG and SGCD genes. ...
Patients present muscle hypertrophy, elevated CK, variable muscle weaknesses, and progressive loss of ambulation. Four …
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
Ten Dam L, Frankhuizen WS, Linssen WHJP, Straathof CS, Niks EH, Faber K, Fock A, Kuks JB, Brusse E, de Coo R, Voermans N, Verrips A, Hoogendijk JE, van der Pol L, Westra D, de Visser M, van der Kooi AJ, Ginjaar I. Ten Dam L, et al. Clin Genet. 2019 Aug;96(2):126-133. doi: 10.1111/cge.13544. Epub 2019 May 6. Clin Genet. 2019. PMID: 30919934
Thirty-three novel mutations were identified. A wide range in age of onset (0-72 years) and loss of ambulation (5-74 years) was found. Fifteen patients (6%) initially presented with asymptomatic hyperCKemia. ...
Thirty-three novel mutations were identified. A wide range in age of onset (0-72 years) and loss of ambulation (5-74 ye …
Prognostic factors, disease course, and treatment efficacy in Duchenne muscular dystrophy: A systematic review and meta-analysis.
Weber FJ, Latshang TD, Blum MR, Kohler M, Wertli MM. Weber FJ, et al. Muscle Nerve. 2022 Oct;66(4):462-470. doi: 10.1002/mus.27682. Epub 2022 Aug 6. Muscle Nerve. 2022. PMID: 35860996 Free PMC article.
METHODS: We searched six databases for prospective studies that each included 50 DMD patients with a minimum follow-up of 1 y. Primary outcomes were age at loss of ambulation (LoA), pulmonary function (forced vital capacity percent of predicted, FVC%p), and h …
METHODS: We searched six databases for prospective studies that each included 50 DMD patients with a minimum follow-up of 1 y. Primary outco …
Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis.
Mercuri E, Osorio AN, Muntoni F, Buccella F, Desguerre I, Kirschner J, Tulinius M, de Resende MBD, Morgenroth LP, Gordish-Dressman H, Johnson S, Kristensen A, Werner C, Trifillis P, Henricson EK, McDonald CM; STRIDE and CINRG DNHS investigators. Mercuri E, et al. J Neurol. 2023 Aug;270(8):3896-3913. doi: 10.1007/s00415-023-11687-1. Epub 2023 Apr 28. J Neurol. 2023. PMID: 37115359 Free PMC article.

Kaplan-Meier analyses demonstrated that ataluren plus SoC significantly delayed age at loss of ambulation by 4 years (p < 0.0001) and age at decline to %-predicted forced vital capacity of < 60% and < 50% by 1.8 years (p = 0.0021) and 2.3 years (p =

…
Kaplan-Meier analyses demonstrated that ataluren plus SoC significantly delayed age at loss of ambulation by 4 years (p …
Novel therapies for mucopolysaccharidosis type III.
Seker Yilmaz B, Davison J, Jones SA, Baruteau J. Seker Yilmaz B, et al. J Inherit Metab Dis. 2021 Jan;44(1):129-147. doi: 10.1002/jimd.12316. Epub 2020 Sep 28. J Inherit Metab Dis. 2021. PMID: 32944950 Free PMC article. Review.
The classical presentation is an infantile-onset neurodegenerative disease characterised by intellectual regression, behavioural and sleep disturbances, loss of ambulation, and early death. Unlike other MPS, no disease-modifying therapy has yet been approved. …
The classical presentation is an infantile-onset neurodegenerative disease characterised by intellectual regression, behavioural and sleep d …
Association of genetic mutations and loss of ambulation in childhood-onset dystrophinopathy.
Haber G, Conway KM, Paramsothy P, Roy A, Rogers H, Ling X, Kozauer N, Street N, Romitti PA, Fox DJ, Phan HC, Matthews D, Ciafaloni E, Oleszek J, James KA, Galindo M, Whitehead N, Johnson N, Butterfield RJ, Pandya S, Venkatesh S, Bhattaram VA. Haber G, et al. Muscle Nerve. 2021 Feb;63(2):181-191. doi: 10.1002/mus.27113. Epub 2020 Nov 17. Muscle Nerve. 2021. PMID: 33150975 Free PMC article.
BACKGROUND: Quantifying associations between genetic mutations and loss of ambulation (LoA) among males diagnosed with childhood-onset dystrophinopathy is important for understanding variation in disease progression and may be useful in clinical trial design. …
BACKGROUND: Quantifying associations between genetic mutations and loss of ambulation (LoA) among males diagnosed with …
Cardiac MRI biomarkers for Duchenne muscular dystrophy.
Magrath P, Maforo N, Renella P, Nelson SF, Halnon N, Ennis DB. Magrath P, et al. Biomark Med. 2018 Nov;12(11):1271-1289. doi: 10.2217/bmm-2018-0125. Epub 2018 Nov 30. Biomark Med. 2018. PMID: 30499689 Free PMC article. Review.
Duchenne muscular dystrophy (DMD) is a fatal inherited genetic disorder that results in progressive muscle weakness and ultimately loss of ambulation, respiratory failure and heart failure. Cardiac MRI (MRI) plays an increasingly important role in the diagnos …
Duchenne muscular dystrophy (DMD) is a fatal inherited genetic disorder that results in progressive muscle weakness and ultimately loss …
Advances in the diagnosis and management of cardiomyopathy in Duchenne muscular dystrophy.
Hor KN, Mah ML, Johnston P, Cripe TP, Cripe LH. Hor KN, et al. Neuromuscul Disord. 2018 Sep;28(9):711-716. doi: 10.1016/j.nmd.2018.06.014. Epub 2018 Jul 6. Neuromuscul Disord. 2018. PMID: 30064893 Review.
Patients with Duchenne muscular dystrophy suffer debilitating muscle destruction, resulting in loss of ambulation, diminished respiratory function, gastrointestinal disturbances and cardiomyopathy. ...
Patients with Duchenne muscular dystrophy suffer debilitating muscle destruction, resulting in loss of ambulation, dimi …
Osteoporosis in Children with Chronic Disease.
Högler W, Ward L. Högler W, et al. Endocr Dev. 2015;28:176-195. doi: 10.1159/000381045. Epub 2015 Jun 12. Endocr Dev. 2015. PMID: 26138842 Review.
Serious illness in children and its therapy can cause osteoporosis, manifesting as vertebral and nonvertebral fractures, pain, skeletal deformity and temporary or even permanent loss of ambulation. In contrast to adults, skeletal growth in children offers tre …
Serious illness in children and its therapy can cause osteoporosis, manifesting as vertebral and nonvertebral fractures, pain, skeletal defo …
130 results