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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 10
1994 11
1995 12
1996 12
1997 11
1998 15
1999 15
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 27
2015 26
2016 35
2017 30
2018 30
2019 20
2020 16
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1,437 results
Results by year
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Page 1
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.
The purpose of these guidelines is to provide recommendations for the diagnosis and treatment of respiratory disorders in familial dysautonomia. ...CONCLUSIONS: Expert recommendations for the diagnosis and management of respiratory disease in patients with famili
The purpose of these guidelines is to provide recommendations for the diagnosis and treatment of respiratory disorders in familial
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. The mutation arose in the 1500s within the small Jewish founder population in Eastern Europe and became prevalent during the period of rapid population expansi
Familial dysautonomia (FD) is a rare neurological disorder caused by a splice mutation in the IKBKAP gene. The mutation arose
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. Recent studies have shown that two mutations in the gene IKBKAP are responsible for the disease. ...
Familial dysautonomia is a developmental disorder of the sensory and autonomic nervous system. Recent studies have shown that
Caring for adolescents with familial dysautonomia.
Keegan RD. Keegan RD. Nursing. 2017 Jan;47(1):52-55. doi: 10.1097/01.NURSE.0000510747.77960.4e. Nursing. 2017. PMID: 28027135 No abstract available.
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 …
Chemoreflex failure and sleep-disordered breathing in familial dysautonomia: Implications for sudden death during sleep.
Palma JA, Gileles-Hillel A, Norcliffe-Kaufmann L, Kaufmann H. Palma JA, et al. Auton Neurosci. 2019 May;218:10-15. doi: 10.1016/j.autneu.2019.02.003. Epub 2019 Feb 15. Auton Neurosci. 2019. PMID: 30890343 Free PMC article. Review.
Although a rare disease, familial dysautonomia represents a unique template to study the interactions between sleep-disordered breathing and abnormal chemo- and baroreflex function. ...The annual incidence rate of sudden death during sleep in patients with famili
Although a rare disease, familial dysautonomia represents a unique template to study the interactions between sleep-disordered …
Familial dysautonomia: a disease with hidden tears.
Mendoza-Santiesteban CE, Palma JA, Norcliffe-Kaufmann L, Kaufmann H. Mendoza-Santiesteban CE, et al. J Neurol. 2017 Jun;264(6):1290-1291. doi: 10.1007/s00415-017-8486-z. Epub 2017 Apr 11. J Neurol. 2017. PMID: 28401297 Free PMC article. No abstract available.
Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice.
Sinha R, Kim YJ, Nomakuchi T, Sahashi K, Hua Y, Rigo F, Bennett CF, Krainer AR. Sinha R, et al. Nucleic Acids Res. 2018 Jun 1;46(10):4833-4844. doi: 10.1093/nar/gky249. Nucleic Acids Res. 2018. PMID: 29672717 Free PMC article.
Familial dysautonomia (FD) is a rare inherited neurodegenerative disorder caused by a point mutation in the IKBKAP gene that results in defective splicing of its pre-mRNA. ...
Familial dysautonomia (FD) is a rare inherited neurodegenerative disorder caused by a point mutation in the IKBKAP gene that r
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
ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.
Morini E, Gao D, Montgomery CM, Salani M, Mazzasette C, Krussig TA, Swain B, Dietrich P, Narasimhan J, Gabbeta V, Dakka A, Hedrick J, Zhao X, Weetall M, Naryshkin NA, Wojtkiewicz GG, Ko CP, Talkowski ME, Dragatsis I, Slaugenhaupt SA. Morini E, et al. Am J Hum Genet. 2019 Apr 4;104(4):638-650. doi: 10.1016/j.ajhg.2019.02.009. Epub 2019 Mar 21. Am J Hum Genet. 2019. PMID: 30905397 Free PMC article.
Familial dysautonomia (FD) is a recessive neurodegenerative disease caused by a splice mutation in Elongator complex protein 1 (ELP1, also known as IKBKAP); this mutation leads to variable skipping of exon 20 and to a drastic reduction of ELP1 in the nervous system.
Familial dysautonomia (FD) is a recessive neurodegenerative disease caused by a splice mutation in Elongator complex protein 1
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