Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1948 1
1951 1
1952 1
1954 2
1955 5
1958 3
1959 3
1960 4
1961 1
1962 2
1964 3
1965 3
1966 3
1967 3
1968 10
1969 7
1970 17
1971 9
1972 12
1973 13
1974 11
1975 12
1976 15
1977 16
1978 9
1979 13
1980 12
1981 16
1982 12
1983 19
1984 25
1985 23
1986 19
1987 19
1988 30
1989 29
1990 25
1991 29
1992 54
1993 39
1994 51
1995 40
1996 58
1997 50
1998 43
1999 60
2000 50
2001 56
2002 49
2003 55
2004 57
2005 73
2006 72
2007 81
2008 83
2009 95
2010 102
2011 125
2012 134
2013 134
2014 131
2015 110
2016 133
2017 132
2018 136
2019 149
2020 182
2021 203
2022 233
2023 217
2024 99

Text availability

Article attribute

Article type

Publication date

Search Results

3,332 results

Results by year

Filters applied: . Clear all
Page 1
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group. Northrup H, et al. Pediatr Neurol. 2021 Oct;123:50-66. doi: 10.1016/j.pediatrneurol.2021.07.011. Epub 2021 Jul 24. Pediatr Neurol. 2021. PMID: 34399110 Free article.
In 2013, Pediatric Neurology published articles outlining updated diagnostic criteria and recommendations for surveillance and management of disease manifestations. Advances in knowledge and approvals of new therapies necessitated a revision of those criteria and recommend …
In 2013, Pediatric Neurology published articles outlining updated diagnostic criteria and recommendations for surveillance and management of …
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.
Yiu EM, Bray P, Baets J, Baker SK, Barisic N, de Valle K, Estilow T, Farrar MA, Finkel RS, Haberlová J, Kennedy RA, Moroni I, Nicholson GA, Ramchandren S, Reilly MM, Rose K, Shy ME, Siskind CE, Yum SW, Menezes MP, Ryan MM, Burns J. Yiu EM, et al. J Neurol Neurosurg Psychiatry. 2022 May;93(5):530-538. doi: 10.1136/jnnp-2021-328483. Epub 2022 Feb 9. J Neurol Neurosurg Psychiatry. 2022. PMID: 35140138 Review.
We formed the Paediatric CMT Best Practice Guidelines Consortium to develop evidence and consensus-based recommendations for the clinical management of children and adolescents with CMT, with the primary objective of promoting optimal, standardised care globally. METHODS: …
We formed the Paediatric CMT Best Practice Guidelines Consortium to develop evidence and consensus-based recommendations for the clinical ma …
Friedreich's ataxia: clinical features, pathogenesis and management.
Cook A, Giunti P. Cook A, et al. Br Med Bull. 2017 Dec 1;124(1):19-30. doi: 10.1093/bmb/ldx034. Br Med Bull. 2017. PMID: 29053830 Free PMC article. Review.
In particular, the genetic and epigenetic mechanisms underlying the disease now offer promising novel therapeutic targets. AREAS OF CONTROVERSY: The search for effective disease-modifying agents continues. ...Phase II clinical trials in agents that address the abberrant si …
In particular, the genetic and epigenetic mechanisms underlying the disease now offer promising novel therapeutic targets. AREAS OF C …
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Evans DG, Plotkin SR. Legius E, et al. Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5. Epub 2021 May 19. Genet Med. 2021. PMID: 34012067 Free PMC article.
Health Supervision for Children With Neurofibromatosis Type 1.
Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR; COUNCIL ON GENETICS; AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS. Miller DT, et al. Pediatrics. 2019 May;143(5):e20190660. doi: 10.1542/peds.2019-0660. Pediatrics. 2019. PMID: 31010905 Review.
Neurofibromatosis type 1 (NF1) is a multisystem disorder that primarily involves the skin and peripheral nervous system. Its population prevalence is approximately 1 in 3000. ...
Neurofibromatosis type 1 (NF1) is a multisystem disorder that primarily involves the skin and peripheral nervous system. Its p …
Wilson Disease: Diagnosis, Treatment, and Follow-up.
Schilsky ML. Schilsky ML. Clin Liver Dis. 2017 Nov;21(4):755-767. doi: 10.1016/j.cld.2017.06.011. Epub 2017 Aug 10. Clin Liver Dis. 2017. PMID: 28987261 Review.
In association with other clinical and biochemical tests, liver biopsy results and molecular genetic testing can also be used to generate a score for diagnosing Wilson disease. Medical therapy is effective for most patients; liver transplant can rescue those with acute liv …
In association with other clinical and biochemical tests, liver biopsy results and molecular genetic testing can also be used to generate a …
Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.
Adams D, Ando Y, Beirão JM, Coelho T, Gertz MA, Gillmore JD, Hawkins PN, Lousada I, Suhr OB, Merlini G. Adams D, et al. J Neurol. 2021 Jun;268(6):2109-2122. doi: 10.1007/s00415-019-09688-0. Epub 2020 Jan 6. J Neurol. 2021. PMID: 31907599 Free PMC article. Review.
., Portugal, Japan, Sweden, Brazil), ATTR amyloidosis with PN should be suspected in any patient who has length-dependent small-fiber PN with autonomic dysfunction and a family history of ATTR amyloidosis, unexplained weight loss, heart rhythm disorders, vitreous opacities …
., Portugal, Japan, Sweden, Brazil), ATTR amyloidosis with PN should be suspected in any patient who has length-dependent small-fiber PN wit …
Guidelines on clinical presentation and management of nondystrophic myotonias.
Stunnenberg BC, LoRusso S, Arnold WD, Barohn RJ, Cannon SC, Fontaine B, Griggs RC, Hanna MG, Matthews E, Meola G, Sansone VA, Trivedi JR, van Engelen BGM, Vicart S, Statland JM. Stunnenberg BC, et al. Muscle Nerve. 2020 Oct;62(4):430-444. doi: 10.1002/mus.26887. Epub 2020 May 27. Muscle Nerve. 2020. PMID: 32270509 Free PMC article. Review.
The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the CLCN1 gene. ...In the absence of genetic confirmation, the diagnosis is supported by detailed electrophysiolo …
The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or los …
Wolfram Syndrome: Diagnosis, Management, and Treatment.
Urano F. Urano F. Curr Diab Rep. 2016 Jan;16(1):6. doi: 10.1007/s11892-015-0702-6. Curr Diab Rep. 2016. PMID: 26742931 Free PMC article. Review.
Although there are currently no effective treatments that can delay or reverse the progression of Wolfram syndrome, the use of careful clinical monitoring and supportive care can help relieve the suffering of patients and improve their quality of life. ...
Although there are currently no effective treatments that can delay or reverse the progression of Wolfram syndrome, the use of careful clini …
X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies.
Turk BR, Theda C, Fatemi A, Moser AB. Turk BR, et al. Int J Dev Neurosci. 2020 Feb;80(1):52-72. doi: 10.1002/jdn.10003. Epub 2020 Jan 26. Int J Dev Neurosci. 2020. PMID: 31909500 Free PMC article. Review.
This review summarizes our current understanding of the pathogenic cell- and tissue-specific roles of lipid species in the context of experimental therapeutic strategies and provides an overview of critical historical developments, therapeutic trials and the advent …
This review summarizes our current understanding of the pathogenic cell- and tissue-specific roles of lipid species in the context of experi …
3,332 results