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1968
2025

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

Year Number of Results
1968 3
1969 2
1970 1
1974 1
1975 1
1976 1
1977 2
1978 3
1979 2
1980 2
1982 3
1983 2
1984 1
1985 1
1986 2
1988 8
1989 6
1990 8
1991 7
1992 6
1993 8
1994 4
1995 11
1996 12
1997 14
1998 16
1999 19
2000 18
2001 19
2002 15
2003 17
2004 20
2005 28
2006 19
2007 10
2008 24
2009 12
2010 16
2011 20
2012 16
2013 29
2014 28
2015 24
2016 24
2017 33
2018 32
2019 21
2020 23
2021 24
2022 20
2023 14
2024 15
2025 3

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616 results

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Page 1
Congenital Muscular Dystrophy and Congenital Myopathy.
Butterfield RJ. Butterfield RJ. Continuum (Minneap Minn). 2019 Dec;25(6):1640-1661. doi: 10.1212/CON.0000000000000792. Continuum (Minneap Minn). 2019. PMID: 31794464 Review.
PURPOSE OF REVIEW: Congenital muscular dystrophies and congenital myopathies are a heterogeneous group of disorders resulting in hypotonia, muscle weakness, and dystrophic or myopathic features on muscle biopsy. ...This article reviews the clinical and …
PURPOSE OF REVIEW: Congenital muscular dystrophies and congenital myopathies are a heterogeneous group of disord …
Emery-Dreifuss muscular dystrophy.
Heller SA, Shih R, Kalra R, Kang PB. Heller SA, et al. Muscle Nerve. 2020 Apr;61(4):436-448. doi: 10.1002/mus.26782. Epub 2019 Dec 28. Muscle Nerve. 2020. PMID: 31840275 Free PMC article. Review.
Emery-Dreifuss muscular dystrophy (EDMD) is a rare muscular dystrophy, but is particularly important to diagnose due to frequent life-threatening cardiac complications. ...
Emery-Dreifuss muscular dystrophy (EDMD) is a rare muscular dystrophy, but is particularly important to diagnose …
Muscular Dystrophies.
Carter JC, Sheehan DW, Prochoroff A, Birnkrant DJ. Carter JC, et al. Clin Chest Med. 2018 Jun;39(2):377-389. doi: 10.1016/j.ccm.2018.01.004. Clin Chest Med. 2018. PMID: 29779596 Review.
Muscular dystrophies represent a complex, varied, and important subset of neuromuscular disorders likely to require the care of a pulmonologist. The spectrum of conditions encapsulated by this subset ranges from severe and fatal congenital muscular
Muscular dystrophies represent a complex, varied, and important subset of neuromuscular disorders likely to require the care o
Neuromuscular diseases: Diagnosis and management.
Mary P, Servais L, Vialle R. Mary P, et al. Orthop Traumatol Surg Res. 2018 Feb;104(1S):S89-S95. doi: 10.1016/j.otsr.2017.04.019. Epub 2017 Nov 28. Orthop Traumatol Surg Res. 2018. PMID: 29196274 Free article. Review.
The main NMDs relevant to the orthopaedic surgeon are infantile spinal muscular atrophy (a motor neuron disease), peripheral neuropathies (chiefly, Charcot-Marie-Tooth disease), congenital muscular dystrophies, progressive muscular dystrophie
The main NMDs relevant to the orthopaedic surgeon are infantile spinal muscular atrophy (a motor neuron disease), peripheral neuropat …
Collagen VI in the Musculoskeletal System.
Di Martino A, Cescon M, D'Agostino C, Schilardi F, Sabatelli P, Merlini L, Faldini C. Di Martino A, et al. Int J Mol Sci. 2023 Mar 7;24(6):5095. doi: 10.3390/ijms24065095. Int J Mol Sci. 2023. PMID: 36982167 Free PMC article. Review.
Mutations in the genes encoding collagen VI main chains, COL6A1, COL6A2 and COL6A3, are responsible for a spectrum of congenital muscular disorders, namely Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM) and myosclerosis myop …
Mutations in the genes encoding collagen VI main chains, COL6A1, COL6A2 and COL6A3, are responsible for a spectrum of congenital m
Neonatal and infantile hypotonia.
Younger DS. Younger DS. Handb Clin Neurol. 2023;195:401-423. doi: 10.1016/B978-0-323-98818-6.00011-X. Handb Clin Neurol. 2023. PMID: 37562880 Review.
Myotonic dystrophy type 2: the 2020 update.
Meola G. Meola G. Acta Myol. 2020 Dec 1;39(4):222-234. doi: 10.36185/2532-1900-026. eCollection 2020 Dec. Acta Myol. 2020. PMID: 33458578 Free PMC article. Review.
The myotonic dystrophies are the commonest cause of adult-onset muscular dystrophy. Phenotypes of DM1 and DM2 are similar, but there are some important differences, including the presence or absence of congenital form, muscles primarily affected (dista …
The myotonic dystrophies are the commonest cause of adult-onset muscular dystrophy. Phenotypes of DM1 and DM2 are simil …
Pediatric Neuromuscular Diseases.
Rathore G, Kang PB. Rathore G, et al. Pediatr Neurol. 2023 Dec;149:1-14. doi: 10.1016/j.pediatrneurol.2023.08.034. Epub 2023 Aug 29. Pediatr Neurol. 2023. PMID: 37757659 Review.
Neonatal hypotonia and neuromuscular conditions.
Mercuri E, Pera MC, Brogna C. Mercuri E, et al. Handb Clin Neurol. 2019;162:435-448. doi: 10.1016/B978-0-444-64029-1.00021-7. Handb Clin Neurol. 2019. PMID: 31324324 Review.
The early identification of such disorders is important, as this allows early intervention with disease-specific standards of care and, more importantly, because of the possibility to treat some of them, such as spinal muscular atrophy, with therapeutic approaches that hav …
The early identification of such disorders is important, as this allows early intervention with disease-specific standards of care and, more …
The muscular dystrophies.
Emery AE. Emery AE. Lancet. 2002 Feb 23;359(9307):687-95. doi: 10.1016/S0140-6736(02)07815-7. Lancet. 2002. PMID: 11879882 Review.
The muscular dystrophies are inherited myogenic disorders characterised by progressive muscle wasting and weakness of variable distribution and severity. ...In several dystrophies the heart can be seriously affected, sometimes in the absence of clinically sig …
The muscular dystrophies are inherited myogenic disorders characterised by progressive muscle wasting and weakness of variable …
616 results