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

Year Number of Results
1967 2
1968 1
1969 2
1970 2
1971 2
1972 1
1973 1
1974 4
1975 10
1976 11
1977 5
1978 10
1979 11
1980 7
1981 12
1982 7
1983 11
1984 16
1985 15
1986 23
1987 9
1988 13
1989 16
1990 17
1991 33
1992 14
1993 27
1994 33
1995 12
1996 27
1997 27
1998 40
1999 31
2000 34
2001 32
2002 33
2003 29
2004 37
2005 48
2006 43
2007 40
2008 38
2009 49
2010 56
2011 47
2012 65
2013 69
2014 78
2015 64
2016 64
2017 96
2018 83
2019 89
2020 87
2021 88
2022 75
2023 47
2024 25

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1,668 results

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Quoted phrase not found in phrase index: "Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome"
Page 1
Rhabdomyolysis: a review of the literature.
Khan FY. Khan FY. Neth J Med. 2009 Oct;67(9):272-83. Neth J Med. 2009. PMID: 19841484 Free article. Review.
Rhabdomyolysis is a potentially life-threatening syndrome that can develop from a variety of causes; the classic findings of muscular aches, weakness and tea-coloured urine are non-specific and may not always be present. ...The objective of this review is to describ …
Rhabdomyolysis is a potentially life-threatening syndrome that can develop from a variety of causes; the classic findings of muscu …
Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne's Muscular Dystrophy.
Lek A, Wong B, Keeler A, Blackwood M, Ma K, Huang S, Sylvia K, Batista AR, Artinian R, Kokoski D, Parajuli S, Putra J, Carreon CK, Lidov H, Woodman K, Pajusalu S, Spinazzola JM, Gallagher T, LaRovere J, Balderson D, Black L, Sutton K, Horgan R, Lek M, Flotte T. Lek A, et al. N Engl J Med. 2023 Sep 28;389(13):1203-1210. doi: 10.1056/NEJMoa2307798. N Engl J Med. 2023. PMID: 37754285
We treated a 27-year-old patient with Duchenne's muscular dystrophy (DMD) with recombinant adeno-associated virus (rAAV) serotype 9 containing dSaCas9 (i.e., "dead" Staphylococcus aureus Cas9, in which the Cas9 nuclease activity has been inactivated) fused to VP64; this tr …
We treated a 27-year-old patient with Duchenne's muscular dystrophy (DMD) with recombinant adeno-associated virus (rAAV) serotype 9 c …
Degenerative Cervical Myelopathy: Epidemiology, Genetics, and Pathogenesis.
Nouri A, Tetreault L, Singh A, Karadimas SK, Fehlings MG. Nouri A, et al. Spine (Phila Pa 1976). 2015 Jun 15;40(12):E675-93. doi: 10.1097/BRS.0000000000000913. Spine (Phila Pa 1976). 2015. PMID: 25839387 Review.
In addition, congenital anomalies including spinal stenosis, Down syndrome, and Klippel-Feil syndrome may predispose to the development of DCM. ...
In addition, congenital anomalies including spinal stenosis, Down syndrome, and Klippel-Feil syndrome may predispose to the de …
Malignant syndromes: current advances.
Tao M, Li J, Wang X, Tian X. Tao M, et al. Expert Opin Drug Saf. 2021 Sep;20(9):1075-1085. doi: 10.1080/14740338.2021.1919622. Epub 2021 Apr 26. Expert Opin Drug Saf. 2021. PMID: 33866917 Review.
The typical clinical manifestations of malignant syndromes are hyperpyrexia, muscular rigidity, an altered mental status and increased levels of creatine kinase; however, the pathophysiology, treatment and prognosis of different malignant syndromes are …
The typical clinical manifestations of malignant syndromes are hyperpyrexia, muscular rigidity, an altered mental status and i …
Congenital muscular dystrophies.
Kirschner J. Kirschner J. Handb Clin Neurol. 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3. Handb Clin Neurol. 2013. PMID: 23622361 Review.
The congenital muscular dystrophies are a heterogeneous group of disorders in which weakness and dystrophic pattern on muscle biopsy are present at birth or during the first months of life. This chapter reviews the most common forms of congenital muscular dystrophie …
The congenital muscular dystrophies are a heterogeneous group of disorders in which weakness and dystrophic pattern on muscle biopsy …
Walker-Warburg syndrome.
Vajsar J, Schachter H. Vajsar J, et al. Orphanet J Rare Dis. 2006 Aug 3;1:29. doi: 10.1186/1750-1172-1-29. Orphanet J Rare Dis. 2006. PMID: 16887026 Free PMC article. Review.
Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy associated with brain and eye abnormalities. ...It is associated with type II cobblestone lissencephaly, hydrocephalus, cerebellar malformations, eye abnormalities and …
Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy associated with brain and ey …
Emery-Dreifuss syndrome.
Emery AE. Emery AE. J Med Genet. 1989 Oct;26(10):637-41. doi: 10.1136/jmg.26.10.637. J Med Genet. 1989. PMID: 2685312 Free PMC article. Review.
Emery-Dreifuss muscular dystrophy is characterised by the triad of (1) early contractures of the elbows, Achilles tendons, and postcervical muscles; (2) slowly progressive muscle wasting and weakness with a humeroperoneal distribution in the early stages; and (3) a cardiom …
Emery-Dreifuss muscular dystrophy is characterised by the triad of (1) early contractures of the elbows, Achilles tendons, and postce …
Facioscapulohumeral dystrophy and scapuloperoneal syndromes.
Orrell RW. Orrell RW. Handb Clin Neurol. 2011;101:167-80. doi: 10.1016/B978-0-08-045031-5.00013-X. Handb Clin Neurol. 2011. PMID: 21496633 Review.
Facioscapulohumeral dystrophy (FSHD) is the third most common muscular dystrophy. It is named for its characteristic involvement of the muscles of the face and upper arm. ...This chapter reviews the epidemiology, pathogenesis, genetics, clinical features, investigation, …
Facioscapulohumeral dystrophy (FSHD) is the third most common muscular dystrophy. It is named for its characteristic involvement of t …
Association of mast-cell-related conditions with hypermobile syndromes: a review of the literature.
Monaco A, Choi D, Uzun S, Maitland A, Riley B. Monaco A, et al. Immunol Res. 2022 Aug;70(4):419-431. doi: 10.1007/s12026-022-09280-1. Epub 2022 Apr 21. Immunol Res. 2022. PMID: 35449490 Free PMC article. Review.
Ehlers-Danlos syndrome (EDS) is a group of related connective tissue disorders consisting of 13 subtypes, each with its own unique phenotypic and genetic variation. The overlap of symptoms and multitude of EDS variations makes it difficult for patients to achieve a diagnos …
Ehlers-Danlos syndrome (EDS) is a group of related connective tissue disorders consisting of 13 subtypes, each with its own unique ph …
Chronic fatigue syndrome.
Klonoff DC. Klonoff DC. Clin Infect Dis. 1992 Nov;15(5):812-23. doi: 10.1093/clind/15.5.812. Clin Infect Dis. 1992. PMID: 1445980 Review.
Chronic fatigue syndrome (CFS) is defined by symptoms and diagnosed without any objective diagnostic tests. ...Modest dysfunction of multiple organ systems, including the immune, central nervous, endocrine, and muscular systems, have been identified in cases of CFS. …
Chronic fatigue syndrome (CFS) is defined by symptoms and diagnosed without any objective diagnostic tests. ...Modest dysfunction of …
1,668 results