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1953 1
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1956 8
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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
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
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2025 19
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1,565 results

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Page 1
Familial dysautonomia.
González-Duarte A, Cotrina-Vidal M, Kaufmann H, Norcliffe-Kaufmann L. González-Duarte A, et al. Clin Auton Res. 2023 Jun;33(3):269-280. doi: 10.1007/s10286-023-00941-1. Epub 2023 May 19. Clin Auton Res. 2023. PMID: 37204536 Review.
Familial dysautonomia (FD) is an autosomal recessive hereditary sensory and autonomic neuropathy (HSAN, type 3) expressed at birth with profound sensory loss and early death. ...
Familial dysautonomia (FD) is an autosomal recessive hereditary sensory and autonomic neuropathy (HSAN, type 3) expressed at b …
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.
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 (a brief review).
Pearson J. Pearson J. J Auton Nerv Syst. 1979 Dec;1(2):119-26. doi: 10.1016/0165-1838(79)90010-9. J Auton Nerv Syst. 1979. PMID: 399775 Review. No abstract available.
Advances in the treatment of familial dysautonomia: what does the future hold?
Grobocopatel Marra M, Kuijpers M, Kaufmann H, Gonzalez-Duarte A. Grobocopatel Marra M, et al. Expert Rev Neurother. 2025 Aug;25(8):939-949. doi: 10.1080/14737175.2025.2525400. Epub 2025 Jul 1. Expert Rev Neurother. 2025. PMID: 40580154 Free article. Review.
INTRODUCTION: Familial Dysautonomia (FD) is a rare autosomal recessive genetic disease caused by a single point mutation in the ELP1 gene, leading to a deficiency in the Elongator Protein 1. ...
INTRODUCTION: Familial Dysautonomia (FD) is a rare autosomal recessive genetic disease caused by a single point mutation in th …
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.
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 …
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 …
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.
1,565 results