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

Year Number of Results
1952 1
1966 1
1967 1
1968 1
1970 1
1971 1
1972 1
1973 1
1974 5
1975 1
1976 2
1977 2
1979 2
1981 3
1982 1
1983 1
1984 7
1986 4
1987 3
1988 1
1989 3
1990 2
1991 2
1992 6
1993 3
1994 3
1995 2
1996 6
1997 7
1998 8
1999 4
2000 3
2001 5
2002 5
2003 5
2004 2
2005 2
2006 6
2007 7
2008 8
2009 7
2010 12
2011 6
2012 10
2013 8
2014 10
2015 9
2016 14
2017 11
2018 18
2019 14
2020 18
2021 20
2022 19
2023 15
2024 7

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288 results

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The following term was not found in PubMed: ataxia-hypogonadism-choroidal
Page 1
Complex Regional Pain Syndrome: Practical Diagnostic and Treatment Guidelines, 5th Edition.
Harden RN, McCabe CS, Goebel A, Massey M, Suvar T, Grieve S, Bruehl S. Harden RN, et al. Pain Med. 2022 Jun 10;23(Suppl 1):S1-S53. doi: 10.1093/pm/pnac046. Pain Med. 2022. PMID: 35687369 Free PMC article. Review.
There have been some modest recent advancements in the research of Complex Regional Pain Syndrome, yet the amount and quality of the work in this complicated multifactorial disease remains low (with some notable exceptions; e.g., the recent work on the dorsal root ganglion …
There have been some modest recent advancements in the research of Complex Regional Pain Syndrome, yet the amount and quality of the …
Ubiquitination in disease pathogenesis and treatment.
Popovic D, Vucic D, Dikic I. Popovic D, et al. Nat Med. 2014 Nov;20(11):1242-53. doi: 10.1038/nm.3739. Epub 2014 Nov 6. Nat Med. 2014. PMID: 25375928 Review.
Here we describe the role of ubiquitination in the onset and progression of cancer, metabolic syndromes, neurodegenerative diseases, autoimmunity, inflammatory disorders, infection and muscle dystrophies. Moreover, we indicate how current knowledge could be exploite …
Here we describe the role of ubiquitination in the onset and progression of cancer, metabolic syndromes, neurodegenerative diseases, …
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 dystrophies, and Steinert myotonic …
The main NMDs relevant to the orthopaedic surgeon are infantile spinal muscular atrophy (a motor neuron disease), peripheral neuropathies (c …
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." ...Such pleiotropic characteristics are typical of many disor …
Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a di …
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non-syndromic inherited retinal dystrophies.
Liu X, Tao T, Zhao L, Li G, Yang L. Liu X, et al. Clin Exp Ophthalmol. 2021 Jan;49(1):46-59. doi: 10.1111/ceo.13875. Epub 2020 Nov 2. Clin Exp Ophthalmol. 2021. PMID: 33090715
IMPORTANCE: Inherited retinal dystrophies (IRDs) are a group of monogenic diseases, one of the leading causes of blindness. BACKGROUND: Introducing a comprehensive genetic testing strategy by combining single gene Sanger sequencing, next-generation sequencing (NGS) includi …
IMPORTANCE: Inherited retinal dystrophies (IRDs) are a group of monogenic diseases, one of the leading causes of blindness. BACKGROUN …
2018 ACC/AHA/HRS Guideline on the Evaluation and Management of Patients With Bradycardia and Cardiac Conduction Delay: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society.
Kusumoto FM, Schoenfeld MH, Barrett C, Edgerton JR, Ellenbogen KA, Gold MR, Goldschlager NF, Hamilton RM, Joglar JA, Kim RJ, Lee R, Marine JE, McLeod CJ, Oken KR, Patton KK, Pellegrini CN, Selzman KA, Thompson A, Varosy PD. Kusumoto FM, et al. Circulation. 2019 Aug 20;140(8):e382-e482. doi: 10.1161/CIR.0000000000000628. Epub 2018 Nov 6. Circulation. 2019. PMID: 30586772 Free article. No abstract available.
Genotype-phenotype correlates in Joubert syndrome: A review.
Gana S, Serpieri V, Valente EM. Gana S, et al. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):72-88. doi: 10.1002/ajmg.c.31963. Epub 2022 Mar 3. Am J Med Genet C Semin Med Genet. 2022. PMID: 35238134 Free PMC article. Review.
Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the "molar tooth sign," and variable organ involvement. ...On the other hand, individuals with causal variants in the CEP290 or A …
Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem mal …
Topical Losartan: Practical Guidance for Clinical Trials in the Prevention and Treatment of Corneal Scarring Fibrosis and Other Eye Diseases and Disorders.
Wilson SE. Wilson SE. J Ocul Pharmacol Ther. 2023 Apr;39(3):191-206. doi: 10.1089/jop.2022.0174. Epub 2023 Mar 6. J Ocul Pharmacol Ther. 2023. PMID: 36877777 Free PMC article. Review.
These include scarring fibrosis associated with corneal trauma, chemical burns, infections, surgical complications, and persistent epithelial defects, as well as conjunctival fibrotic diseases, such as ocular cicatricial pemphigoid and Stevens-Johnson syndrome. Research is …
These include scarring fibrosis associated with corneal trauma, chemical burns, infections, surgical complications, and persistent epithelia …
Treatment of central disorders of hypersomnolence: an American Academy of Sleep Medicine clinical practice guideline.
Maski K, Trotti LM, Kotagal S, Robert Auger R, Rowley JA, Hashmi SD, Watson NF. Maski K, et al. J Clin Sleep Med. 2021 Sep 1;17(9):1881-1893. doi: 10.5664/jcsm.9328. J Clin Sleep Med. 2021. PMID: 34743789 Free PMC article.
(CONDITIONAL). 13: We suggest that clinicians use lithium for the treatment of Kleine-Levin syndrome in adults. (CONDITIONAL). 14: We suggest that clinicians use armodafinil for the treatment of hypersomnia secondary to dementia with Lewy bodies in adults. ...(CONDITIONAL) …
(CONDITIONAL). 13: We suggest that clinicians use lithium for the treatment of Kleine-Levin syndrome in adults. (CONDITIONAL). 14: We …
Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseases.
Holm A, Hansen SN, Klitgaard H, Kauppinen S. Holm A, et al. RNA Biol. 2022;19(1):594-608. doi: 10.1080/15476286.2022.2066334. Epub 2021 Dec 31. RNA Biol. 2022. PMID: 35482908 Free PMC article.
RNA therapeutics comprise a diverse group of oligonucleotide-based drugs such as antisense oligonucleotides (ASOs), small interfering RNAs (siRNAs), and short hairpin RNAs (shRNAs) that can be designed to selectively interact with drug targets currently undruggable with sm …
RNA therapeutics comprise a diverse group of oligonucleotide-based drugs such as antisense oligonucleotides (ASOs), small interfering …
288 results