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

Year Number of Results
1953 1
1954 1
1955 2
1956 8
1957 8
1958 4
1959 1
1960 2
1961 5
1962 2
1963 6
1964 13
1965 70
1966 86
1967 81
1968 71
1969 64
1970 63
1971 93
1972 57
1973 32
1974 25
1975 22
1976 21
1977 10
1978 13
1979 18
1980 13
1981 10
1982 16
1983 23
1984 14
1985 9
1986 12
1987 11
1988 5
1989 11
1990 10
1991 6
1992 11
1993 11
1994 11
1995 12
1996 12
1997 11
1998 15
1999 16
2000 15
2001 17
2002 25
2003 23
2004 16
2005 22
2006 17
2007 22
2008 20
2009 27
2010 22
2011 24
2012 22
2013 16
2014 26
2015 26
2016 35
2017 30
2018 30
2019 22
2020 25
2021 28
2022 25
2023 29
2024 16

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1,532 results

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Page 1
Familial dysautonomia.
Axelrod FB. Axelrod FB. Muscle Nerve. 2004 Mar;29(3):352-63. doi: 10.1002/mus.10499. Muscle Nerve. 2004. PMID: 14981733 Review.
Familial dysautonomia (FD) is a neurodevelopmental genetic disorder within the larger classification of hereditary sensory and autonomic neuropathies, each caused by a different genetic error. ...
Familial dysautonomia (FD) is a neurodevelopmental genetic disorder within the larger classification of hereditary sensory and
Familial dysautonomia: History, genotype, phenotype and translational research.
Norcliffe-Kaufmann L, Slaugenhaupt SA, Kaufmann H. Norcliffe-Kaufmann L, et al. Prog Neurobiol. 2017 May;152:131-148. doi: 10.1016/j.pneurobio.2016.06.003. Epub 2016 Jun 15. Prog Neurobiol. 2017. PMID: 27317387 Review.
Familial dysautonomia (FD) is a rare neurological disorder caused by a splice mutation in the IKBKAP gene. ...
Familial dysautonomia (FD) is a rare neurological disorder caused by a splice mutation in the IKBKAP gene. ...
Familial dysautonomia.
Slaugenhaupt SA, Gusella JF. Slaugenhaupt SA, et al. Curr Opin Genet Dev. 2002 Jun;12(3):307-11. doi: 10.1016/s0959-437x(02)00303-9. Curr Opin Genet Dev. 2002. PMID: 12076674 Review.
Familial dysautonomia is a developmental disorder of the sensory and autonomic nervous system. ...
Familial dysautonomia is a developmental disorder of the sensory and autonomic nervous system. ...
Animal and cellular models of familial dysautonomia.
Lefcort F, Mergy M, Ohlen SB, Ueki Y, George L. Lefcort F, et al. Clin Auton Res. 2017 Aug;27(4):235-243. doi: 10.1007/s10286-017-0438-2. Epub 2017 Jun 30. Clin Auton Res. 2017. PMID: 28667575 Free PMC article. Review.
Since Riley and Day first described the clinical phenotype of patients with familial dysautonomia (FD) over 60 years ago, the field has made considerable progress clinically, scientifically, and translationally in treating and understanding the etiology of FD. ...
Since Riley and Day first described the clinical phenotype of patients with familial dysautonomia (FD) over 60 years ago, the …
Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations.
Kazachkov M, Palma JA, Norcliffe-Kaufmann L, Bar-Aluma BE, Spalink CL, Barnes EP, Amoroso NE, Balou SM, Bess S, Chopra A, Condos R, Efrati O, Fitzgerald K, Fridman D, Goldenberg RM, Goldhaber A, Kaufman DA, Kothare SV, Levine J, Levy J, Lubinsky AS, Maayan C, Moy LC, Rivera PJ, Rodriguez AJ, Sokol G, Sloane MF, Tan T, Kaufmann H. Kazachkov M, et al. Respir Med. 2018 Aug;141:37-46. doi: 10.1016/j.rmed.2018.06.017. Epub 2018 Jun 21. Respir Med. 2018. PMID: 30053970 Free PMC article. Review.
BACKGROUND: Familial dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type-III) is a rare genetic disease caused by impaired development of sensory and afferent autonomic nerves. ...When evidence was not sufficient, we used data from the New …
BACKGROUND: Familial dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type-III) is a rare genetic dis …
Familial dysautonomia (Riley-Day syndrome): when baroreceptor feedback fails.
Norcliffe-Kaufmann L, Kaufmann H. Norcliffe-Kaufmann L, et al. Auton Neurosci. 2012 Dec 24;172(1-2):26-30. doi: 10.1016/j.autneu.2012.10.012. Epub 2012 Nov 20. Auton Neurosci. 2012. PMID: 23178195 Review.
Familial dysautonomia (FD) is a rare hereditary disorder caused by mutations within the gene that encodes for I-kappa-B kinase complex associated protein (IKAP). ...
Familial dysautonomia (FD) is a rare hereditary disorder caused by mutations within the gene that encodes for I-kappa-B kinase
Familial dysautonomia: update and recent advances.
Gold-von Simson G, Axelrod FB. Gold-von Simson G, et al. Curr Probl Pediatr Adolesc Health Care. 2006 Jul;36(6):218-37. doi: 10.1016/j.cppeds.2005.12.001. Curr Probl Pediatr Adolesc Health Care. 2006. PMID: 16777588 Review. No abstract available.
Current treatments in familial dysautonomia.
Palma JA, Norcliffe-Kaufmann L, Fuente-Mora C, Percival L, Mendoza-Santiesteban C, Kaufmann H. Palma JA, et al. Expert Opin Pharmacother. 2014 Dec;15(18):2653-71. doi: 10.1517/14656566.2014.970530. Epub 2014 Oct 17. Expert Opin Pharmacother. 2014. PMID: 25323828 Free PMC article. Review.
INTRODUCTION: Familial dysautonomia (FD) is a rare hereditary sensory and autonomic neuropathy (type III). ...
INTRODUCTION: Familial dysautonomia (FD) is a rare hereditary sensory and autonomic neuropathy (type III). ...
Familial dysautonomia: a review of the current pharmacological treatments.
Axelrod FB. Axelrod FB. Expert Opin Pharmacother. 2005 Apr;6(4):561-7. doi: 10.1517/14656566.6.4.561. Expert Opin Pharmacother. 2005. PMID: 15934882 Review.
Treatment of familial dysautonomia, a genetic disorder affecting neuronal development and survival, has improved morbidity and survival for this disorder. ...Preventative and supportive treatments have included measures to maintain eye moisture, fundoplication with …
Treatment of familial dysautonomia, a genetic disorder affecting neuronal development and survival, has improved morbidity and …
1,532 results