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

Year Number of Results
1963 1
1966 1
1975 1
1977 2
1978 2
1981 1
1982 2
1984 4
1986 1
1987 3
1988 1
1989 2
1991 5
1992 6
1993 6
1994 5
1995 3
1996 5
1997 5
1998 11
1999 12
2000 4
2001 17
2002 17
2003 9
2004 17
2005 17
2006 12
2007 15
2008 18
2009 23
2010 13
2011 26
2012 24
2013 27
2014 40
2015 44
2016 38
2017 30
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2019 39
2020 39
2021 36
2022 38
2023 39
2024 7

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621 results

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Quoted phrase not found in phrase index: "Skeletal dysplasia-intellectual disability syndrome"
Page 1
Joubert syndrome: Molecular basis and treatment.
Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G. Spahiu L, et al. J Mother Child. 2023 Feb 22;26(1):118-123. doi: 10.34763/jmotherandchild.20222601.d-22-00034. eCollection 2022 Mar 1. J Mother Child. 2023. PMID: 36803942 Free PMC article. Review.
Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a distinctive malformation of the cerebellum and the so-called "molar tooth sign." Other characteristic features are hypotonia with lateral atax …
Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a di …
Inflammation and sarcopenia: A focus on circulating inflammatory cytokines.
Pan L, Xie W, Fu X, Lu W, Jin H, Lai J, Zhang A, Yu Y, Li Y, Xiao W. Pan L, et al. Exp Gerontol. 2021 Oct 15;154:111544. doi: 10.1016/j.exger.2021.111544. Epub 2021 Sep 1. Exp Gerontol. 2021. PMID: 34478826 Review.
Sarcopenia is an aged-related syndrome that is progressive and can be accelerated by other concomitant disease states. Sarcopenia, characterized by loss of skeletal muscle mass, reduced muscle strength, and/or reduced physical performance, is one of the main reasons …
Sarcopenia is an aged-related syndrome that is progressive and can be accelerated by other concomitant disease states. Sarcopenia, ch …
New understanding of the pathogenesis and treatment of stroke-related sarcopenia.
Li W, Yue T, Liu Y. Li W, et al. Biomed Pharmacother. 2020 Nov;131:110721. doi: 10.1016/j.biopha.2020.110721. Epub 2020 Sep 10. Biomed Pharmacother. 2020. PMID: 32920517 Free article. Review.
Sarcopenia is a syndrome characterized by progressive systemic muscle loss and decreased function. ...More and more evidence shows that stroke-related sarcopenia can promote the occurrence and development of sarcopenia through a variety of pathogenesis, such as immobilizat …
Sarcopenia is a syndrome characterized by progressive systemic muscle loss and decreased function. ...More and more evidence shows th …
Myofascial Trigger Points Then and Now: A Historical and Scientific Perspective.
Shah JP, Thaker N, Heimur J, Aredo JV, Sikdar S, Gerber L. Shah JP, et al. PM R. 2015 Jul;7(7):746-761. doi: 10.1016/j.pmrj.2015.01.024. Epub 2015 Feb 24. PM R. 2015. PMID: 25724849 Free PMC article. Review.
The intent of this article is to discuss the evolving role of the myofascial trigger point (MTrP) in myofascial pain syndrome (MPS) from both a historical and scientific perspective. MTrPs are hard, discrete, palpable nodules in a taut band of skeletal muscle that m …
The intent of this article is to discuss the evolving role of the myofascial trigger point (MTrP) in myofascial pain syndrome (MPS) f …
Clinical experience with non-invasive prenatal screening for single-gene disorders.
Mohan P, Lemoine J, Trotter C, Rakova I, Billings P, Peacock S, Kao CY, Wang Y, Xia F, Eng CM, Benn P. Mohan P, et al. Ultrasound Obstet Gynecol. 2022 Jan;59(1):33-39. doi: 10.1002/uog.23756. Ultrasound Obstet Gynecol. 2022. PMID: 34358384 Free PMC article.
METHODS: Cell-free fetal DNA isolated from maternal plasma samples accessioned from 14 April 2017 to 27 November 2019 was analyzed by next-generation sequencing, targeting 30 genes, to look for pathogenic or likely pathogenic variants implicated in 25 dominant conditions. The con …
METHODS: Cell-free fetal DNA isolated from maternal plasma samples accessioned from 14 April 2017 to 27 November 2019 was analyzed by next-g …
WASF3 disrupts mitochondrial respiration and may mediate exercise intolerance in myalgic encephalomyelitis/chronic fatigue syndrome.
Wang PY, Ma J, Kim YC, Son AY, Syed AM, Liu C, Mori MP, Huffstutler RD, Stolinski JL, Talagala SL, Kang JG, Walitt BT, Nath A, Hwang PM. Wang PY, et al. Proc Natl Acad Sci U S A. 2023 Aug 22;120(34):e2302738120. doi: 10.1073/pnas.2302738120. Epub 2023 Aug 14. Proc Natl Acad Sci U S A. 2023. PMID: 37579159 Free PMC article.
Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is characterized by various disabling symptoms including exercise intolerance and is diagnosed in the absence of a specific cause, making its clinical management challenging. ...Expanding on our findings, …
Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is characterized by various disabling symptoms including exercise …
Muscle channelopathies.
Statland J, Phillips L, Trivedi JR. Statland J, et al. Neurol Clin. 2014 Aug;32(3):801-15, x. doi: 10.1016/j.ncl.2014.04.002. Epub 2014 May 9. Neurol Clin. 2014. PMID: 25037091 Review.
Skeletal muscle channelopathies are rare heterogeneous diseases with marked genotypic and phenotypic variability. ...This article summarizes the clinical manifestations, diagnostic studies, pathophysiology, and treatment options in nondystrophic myotonia, congenital myasth …
Skeletal muscle channelopathies are rare heterogeneous diseases with marked genotypic and phenotypic variability. ...This article sum …
MEGDEL Syndrome.
Finsterer J, Scorza FA, Fiorini AC, Scorza CA. Finsterer J, et al. Pediatr Neurol. 2020 Sep;110:25-29. doi: 10.1016/j.pediatrneurol.2020.03.009. Epub 2020 Jul 16. Pediatr Neurol. 2020. PMID: 32684373 Review.
MEGDEL syndrome is due to mutations in the serine active site-containing protein 1 (SERAC1) gene. ...In addition to the brain, ears, and gastrointestinal tract, the eyes, endocrine organs, heart, peripheral nerves, and the skeletal muscle may be affected. Diagnosing …
MEGDEL syndrome is due to mutations in the serine active site-containing protein 1 (SERAC1) gene. ...In addition to the brain, ears, …
The relationship between nutrition and frailty: Effects of protein intake, nutritional supplementation, vitamin D and exercise on muscle metabolism in the elderly. A systematic review.
Artaza-Artabe I, Sáez-López P, Sánchez-Hernández N, Fernández-Gutierrez N, Malafarina V. Artaza-Artabe I, et al. Maturitas. 2016 Nov;93:89-99. doi: 10.1016/j.maturitas.2016.04.009. Epub 2016 Apr 14. Maturitas. 2016. PMID: 27125943 Review.
BACKGROUND: Frailty is a geriatric syndrome that predicts the onset of disability, morbidity and mortality in elderly people; it is a state of pre-disability and is reversible. ...Screening and early diagnosis of malnutrition and frailty in elderly people wil …
BACKGROUND: Frailty is a geriatric syndrome that predicts the onset of disability, morbidity and mortality in elderly people; …
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K, Beetz C, Rocha ME, Urzi A, Hotakainen R, Leubauer A, Al-Ali R, Karageorgou V, Moldovan O, Dias P, Alhashem A, Tabarki B, Albalwi MA, Alswaid AF, Al-Hassnan ZN, Alghamdi MA, Hadipour Z, Hadipour F, Al Hashmi N, Al-Gazali L, Cheema H, Zaki MS, Hüning I, Alfares A, Eyaid W, Al Mutairi F, Alfadhel M, Alkuraya FS, Al-Sannaa NA, AlShamsi AM, Ameziane N, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Genet Med. 2021 Aug;23(8):1551-1568. doi: 10.1038/s41436-021-01159-0. Epub 2021 Apr 19. Genet Med. 2021. PMID: 33875846 Free PMC article.
For the latter, we focused on de novo variants in patients that presented with neurodevelopmental delay (NDD) and/or intellectual disability (ID), which are the most common reasons for genetic testing referrals. ...Furthermore, our results support causality of 31 additiona …
For the latter, we focused on de novo variants in patients that presented with neurodevelopmental delay (NDD) and/or intellectual disabil …
621 results