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

Year Number of Results
1979 2
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2009 1
2012 1
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2014 1
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Page 1
PLP1 Disorders.
Wolf NI, van Spaendonk RML, Hobson GM, Kamholz J. Wolf NI, et al. 1999 Jun 15 [updated 2019 Dec 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1999 Jun 15 [updated 2019 Dec 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301361 Free Books & Documents. Review.
PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. ...Specialized education and assessments are generally necessary, and assistive communication devices ma …
PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to s …
Interventions to improve sensory and motor outcomes for young children with central hypotonia: A systematic review.
Paleg G, Romness M, Livingstone R. Paleg G, et al. J Pediatr Rehabil Med. 2018;11(1):57-70. doi: 10.3233/PRM-170507. J Pediatr Rehabil Med. 2018. PMID: 29630564
OBJECTIVE: To evaluate evidence supporting physical and occupational therapy interventions used to improve sensory and motor outcomes for children 0-6 years with central hypotonia. METHODS: Four electronic databases were searched from 1996 to March 2017. ...These in …
OBJECTIVE: To evaluate evidence supporting physical and occupational therapy interventions used to improve sensory and motor outcomes for …
Myotonic Dystrophy Type 1.
Bird TD. Bird TD. 1999 Sep 17 [updated 2024 Mar 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1999 Sep 17 [updated 2024 Mar 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301344 Free Books & Documents. Review.
Mild DM1 is characterized by cataract and mild myotonia (sustained muscle contraction); life span is normal. Classic DM1 is characterized by muscle weakness and wasting, myotonia, cataract, and often cardiac conduction abnormalities; adults may become physically dis …
Mild DM1 is characterized by cataract and mild myotonia (sustained muscle contraction); life span is normal. Classic DM1 is character …
Efficacy of orthoses for children with hypotonia: a systematic review.
Weber A, Martin K. Weber A, et al. Pediatr Phys Ther. 2014 Spring;26(1):38-47. doi: 10.1097/PEP.0000000000000011. Pediatr Phys Ther. 2014. PMID: 24356317 Review.
Data were reported for body structure and activity components, but not participation outcomes. Current evidence suggests that foot orthoses and supramalleolar orthoses may benefit children with hypotonia; however, the evidence is low level. CONCLUSION: …
Data were reported for body structure and activity components, but not participation outcomes. Current evidence suggests that foot orthos
ATP7A-Related Copper Transport Disorders.
Kaler SG, DiStasio AT. Kaler SG, et al. 2003 May 9 [updated 2021 Apr 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 May 9 [updated 2021 Apr 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301586 Free Books & Documents. Review.
OHS is characterized by "occipital horns," distinctive wedge-shaped calcifications at the sites of attachment of the trapezius muscle and the sternocleidomastoid muscle to the occipital bone. Occipital horns may be clinically palpable or observed on skull radiograph …
OHS is characterized by "occipital horns," distinctive wedge-shaped calcifications at the sites of attachment of the trapezius muscle
Congenital Fiber-Type Disproportion – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
DeChene ET, Kang PB, Beggs AH. DeChene ET, et al. 2007 Jan 12 [updated 2013 Apr 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2007 Jan 12 [updated 2013 Apr 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301436 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Congenital fiber-type disproportion (CFTD) is usually characterized by hypotonia and mild-to-severe generalized muscle weakness at birth or within the first year of life. Although some individuals remain non-ambulatory throughout life, many …
CLINICAL CHARACTERISTICS: Congenital fiber-type disproportion (CFTD) is usually characterized by hypotonia and mild-to-severe general …
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.
Hobson GM, Garbern JY. Hobson GM, et al. Semin Neurol. 2012 Feb;32(1):62-7. doi: 10.1055/s-0032-1306388. Epub 2012 Mar 15. Semin Neurol. 2012. PMID: 22422208 Review.
Various types of mutations of the X-linked proteolipid protein 1 gene (PLP1) that include copy number changes, point mutations, and insertions or deletions of a few bases lead to a clinical spectrum from the most severe connatal PMD, to the least severe spastic paraplegia 2 (SPG2 …
Various types of mutations of the X-linked proteolipid protein 1 gene (PLP1) that include copy number changes, point mutations, and insertio …
Musculoskeletal anomalies in children with Down syndrome: an observational study.
Foley C, Killeen OG. Foley C, et al. Arch Dis Child. 2019 May;104(5):482-487. doi: 10.1136/archdischild-2018-315751. Epub 2018 Nov 24. Arch Dis Child. 2019. PMID: 30472668 Free PMC article.
The primary aim of this study was to describe musculoskeletal anomalies reported in a national cohort of children with DS. METHODS: This was an observational study. Children with DS, aged 0-21 years, were invited to attend a musculoskeletal assessment clinic conduct …
The primary aim of this study was to describe musculoskeletal anomalies reported in a national cohort of children with DS. METHODS: T …
Role of Body Cast Application for Scoliosis Associated With Prader-Willi Syndrome.
van Bosse HJP. van Bosse HJP. J Pediatr Orthop. 2021 Apr 1;41(4):e321-e327. doi: 10.1097/BPO.0000000000001660. J Pediatr Orthop. 2021. PMID: 33122491
BACKGROUND: Prader-Willi syndrome (PWS) is a rare genetic syndrome, with a prevalence of infantile scoliosis of ~23%. These curves are likely related to severe hypotonia. Approximately 15% of children with PWS will need surgical intervention for their scoliosis. The …
BACKGROUND: Prader-Willi syndrome (PWS) is a rare genetic syndrome, with a prevalence of infantile scoliosis of ~23%. These curves are likel …
Bruising frequency and patterns in children with physical disabilities.
Goldberg AP, Tobin J, Daigneau J, Griffith RT, Reinert SE, Jenny C. Goldberg AP, et al. Pediatrics. 2009 Aug;124(2):604-9. doi: 10.1542/peds.2008-2900. Epub 2009 Jul 20. Pediatrics. 2009. PMID: 19620196
For each child, we gathered information on demographics, medications, growth measures, medical conditions, equipment used, and muscle tone. ...There was no relationship between the number of bruises and the child's age, race, or BMI. Overall, ou …
For each child, we gathered information on demographics, medications, growth measures, medical conditions, equipment used, and …
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