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Year Number of Results
1982 1
1985 1
1990 4
1992 1
1994 1
1996 1
1997 2
1998 1
1999 1
2001 3
2003 1
2004 1
2006 2
2007 2
2009 1
2011 4
2012 1
2013 2
2015 1
2016 4
2017 3
2018 4
2019 2
2020 7
2021 3
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2023 2
2024 0

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54 results

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Page 1
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.
Some of these syndromes are of direct relevance to paediatric orthopaedic surgeons, either because the presenting manifestation is a functional sign (e.g., toe-walking) or deformity (e.g., pes cavus or scoliosis) suggesting a need for orthopaedic attention or because orthopaedic …
Some of these syndromes are of direct relevance to paediatric orthopaedic surgeons, either because the presenting manifestation is a functio …
Spinal muscular atrophy.
D'Amico A, Mercuri E, Tiziano FD, Bertini E. D'Amico A, et al. Orphanet J Rare Dis. 2011 Nov 2;6:71. doi: 10.1186/1750-1172-6-71. Orphanet J Rare Dis. 2011. PMID: 22047105 Free PMC article. Review.
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. ...Differential diagnosis should be considered wit …
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in …
Advances in diagnosis and management of Pompe disease.
Davison JE. Davison JE. J Mother Child. 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. J Mother Child. 2020. PMID: 33554498 Free PMC article. Review.
Pompe disease manifests with a broad spectrum of disease severity, ranging from severe infantile-onset diseases such as hypotonia and hypertrophic cardiomyopathy to late-onset diseases such as myopathy and respiratory compromise. ...Long-term survivors with Pompe di …
Pompe disease manifests with a broad spectrum of disease severity, ranging from severe infantile-onset diseases such as hypotonia
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.
The underlying etiology of neonatal and infantile hypotonia can be divided into primary peripheral and central nervous system and acquired or genetic disorders. The approach to identifying the likeliest cause of hypotonia begins with a bedside assessment foll …
The underlying etiology of neonatal and infantile hypotonia can be divided into primary peripheral and central nervous system …
Primary mitochondrial myopathies in childhood.
Olimpio C, Tiet MY, Horvath R. Olimpio C, et al. Neuromuscul Disord. 2021 Oct;31(10):978-987. doi: 10.1016/j.nmd.2021.08.005. Neuromuscul Disord. 2021. PMID: 34736635 Review.
They can be similar to other childhood muscle diseases such as congenital myopathies, dystrophies, myasthenic syndromes or metabolic myopathies and a muscle biopsy and genetic testing are important in the differential diagnosis. ...Mitochondrial myopathy in infants …
They can be similar to other childhood muscle diseases such as congenital myopathies, dystrophies, myasthenic syndromes or metabolic …
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.
Wu T, Yin F, Guang S, He F, Yang L, Peng J. Wu T, et al. Orphanet J Rare Dis. 2020 May 28;15(1):129. doi: 10.1186/s13023-020-01401-z. Orphanet J Rare Dis. 2020. PMID: 32466763 Free PMC article. Review.
Glycosylphosphatidylinositol biosynthesis defects cause rare genetic disorders characterised by developmental delay/intellectual disability, seizures, dysmorphic features, and diverse congenital anomalies associated with a wide range of additional features (hypotonia, hear …
Glycosylphosphatidylinositol biosynthesis defects cause rare genetic disorders characterised by developmental delay/intellectual disability, …
Clinical features of spinal muscular atrophy (SMA) type 2.
Cancès C, Richelme C, Barnerias C, Espil C. Cancès C, et al. Arch Pediatr. 2020 Dec;27(7S):7S18-7S22. doi: 10.1016/S0929-693X(20)30272-4. Arch Pediatr. 2020. PMID: 33357592 Review.
Infantile spinal muscular atrophy (SMA) type 2 is sometimes called intermediate SMA to indicate the disease severity. Generally, psychomotor development is normal until the age of 6 to 8 months, with the acquisition of a stable sitting position. The early signs are
Infantile spinal muscular atrophy (SMA) type 2 is sometimes called intermediate SMA to indicate the disease severity. Generall
Neuromuscular disorders of childhood.
Andersson PB, Rando TA. Andersson PB, et al. Curr Opin Pediatr. 1999 Dec;11(6):497-503. doi: 10.1097/00008480-199912000-00004. Curr Opin Pediatr. 1999. PMID: 10590906 Review.
Neuromuscular disorders are common causes of weakness and hypotonia in the infantile period and in childhood. Accurate diagnosis of specific neuromuscular disorders depends first on identification of which aspect of the peripheral neuromuscular system is affected--t …
Neuromuscular disorders are common causes of weakness and hypotonia in the infantile period and in childhood. Accurate diagnos …
Free sialic acid storage disorder: Progress and promise.
Huizing M, Hackbarth ME, Adams DR, Wasserstein M, Patterson MC, Walkley SU, Gahl WA; FSASD Consortium. Huizing M, et al. Neurosci Lett. 2021 Jun 11;755:135896. doi: 10.1016/j.neulet.2021.135896. Epub 2021 Apr 20. Neurosci Lett. 2021. PMID: 33862140 Free PMC article. Review.
Clinical features of FSASD include coarse facial features, organomegaly, and progressive neurodegenerative symptoms with cognitive impairment, cerebellar ataxia and muscular hypotonia. Central hypomyelination with cerebellar atrophy and thinning of the corpus callos …
Clinical features of FSASD include coarse facial features, organomegaly, and progressive neurodegenerative symptoms with cognitive impairmen …
Congenital myopathies: clinical phenotypes and new diagnostic tools.
Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies. Cassandrini D, et al. Ital J Pediatr. 2017 Nov 15;43(1):101. doi: 10.1186/s13052-017-0419-z. Ital J Pediatr. 2017. PMID: 29141652 Free PMC article. Review.
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major m …
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from …
54 results