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Year Number of Results
1953 1
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1957 8
1958 4
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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
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1984 14
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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
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2011 24
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2013 16
2014 26
2015 26
2016 35
2017 30
2018 30
2019 22
2020 26
2021 29
2022 7
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1,476 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.
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. ...
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. ...
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. ...CONCLUSIONS: Expert recommendations for the diagnosis and m …
BACKGROUND: Familial dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type-III) is a rare genetic dis …
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. In patients with familial dysautonomia, ventilatory responses to hyper …
Although a rare disease, familial dysautonomia represents a unique template to study the interactions between sleep-disordered …
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.
Dancis J, Smith AA. Dancis J, et al. N Engl J Med. 1966 Jan 27;274(4):207-9. doi: 10.1056/NEJM196601272740408. N Engl J Med. 1966. PMID: 5902619 No abstract available.
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.
Familial dysautonomia.
LEVIN S. LEVIN S. S Afr Med J. 1960 May 7;34:386-8. S Afr Med J. 1960. PMID: 14416231 No abstract available.
1,476 results

Searches related to "familial dysautonomia"