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

Year Number of Results
1966 1
1967 1
1969 1
1970 1
1971 1
1974 1
1976 2
1977 1
1978 1
1981 1
1982 3
1983 1
1984 1
1985 1
1986 1
1987 1
1988 1
1989 2
1990 1
1991 2
1992 2
1993 2
1995 3
1996 2
1997 3
1998 4
1999 5
2000 4
2001 4
2002 3
2003 10
2004 6
2005 7
2006 3
2007 4
2008 9
2009 9
2010 6
2011 3
2012 6
2013 2
2014 5
2015 5
2016 4
2017 4
2018 6
2019 5
2020 6
2021 5
2022 2
2023 3
2024 2

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151 results

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Page 1
Diagnosis and treatment of orthostatic hypotension.
Wieling W, Kaufmann H, Claydon VE, van Wijnen VK, Harms MPM, Juraschek SP, Thijs RD. Wieling W, et al. Lancet Neurol. 2022 Aug;21(8):735-746. doi: 10.1016/S1474-4422(22)00169-7. Lancet Neurol. 2022. PMID: 35841911 Free PMC article. Review.
Skin Biopsy Detection of Phosphorylated α-Synuclein in Patients With Synucleinopathies.
Gibbons CH, Levine T, Adler C, Bellaire B, Wang N, Stohl J, Agarwal P, Aldridge GM, Barboi A, Evidente VGH, Galasko D, Geschwind MD, Gonzalez-Duarte A, Gil R, Gudesblatt M, Isaacson SH, Kaufmann H, Khemani P, Kumar R, Lamotte G, Liu AJ, McFarland NR, Miglis M, Reynolds A, Sahagian GA, Saint-Hillaire MH, Schwartzbard JB, Singer W, Soileau MJ, Vernino S, Yerstein O, Freeman R. Gibbons CH, et al. JAMA. 2024 Apr 16;331(15):1298-1306. doi: 10.1001/jama.2024.0792. JAMA. 2024. PMID: 38506839
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 …
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). ...
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 …
Neuropathic-like Pain in Fibrous Dysplasia/McCune-Albright Syndrome.
Spencer TL, Watts L, Soni A, Pinedo-Villanueva R, Heegaard AM, Boyce AM, Javaid MK. Spencer TL, et al. J Clin Endocrinol Metab. 2022 May 17;107(6):e2258-e2266. doi: 10.1210/clinem/dgac120. J Clin Endocrinol Metab. 2022. PMID: 35262711 Free PMC article.
SETTING: Community. PATIENTS: FD/MAS online registries: the US-based Familial Dysautonomia Foundation (FDF) and the UK-based Rare and Undiagnosed Diseases (RUDY) study. ...
SETTING: Community. PATIENTS: FD/MAS online registries: the US-based Familial Dysautonomia Foundation (FDF) and the UK-based R …
Inherited autonomic neuropathies.
Axelrod FB, Hilz MJ. Axelrod FB, et al. Semin Neurol. 2003 Dec;23(4):381-90. doi: 10.1055/s-2004-817722. Semin Neurol. 2003. PMID: 15088259 Review.
The best known and most intensively studied of the HSANs are familial dysautonomia (Riley-Day syndrome or HSAN type III) and congenital insensitivity to pain with anhidrosis (HSAN type IV). ...
The best known and most intensively studied of the HSANs are familial dysautonomia (Riley-Day syndrome or HSAN type III) and c …
Prevalence and characteristics of sleep-disordered breathing in familial dysautonomia.
Singh K, Palma JA, Kaufmann H, Tkachenko N, Norcliffe-Kaufmann L, Spalink C, Kazachkov M, Kothare SV. Singh K, et al. Sleep Med. 2018 May;45:33-38. doi: 10.1016/j.sleep.2017.12.013. Epub 2018 Feb 7. Sleep Med. 2018. PMID: 29680425 Free PMC article.
OBJECTIVE: Familial dysautonomia (FD) is an autosomal recessive disorder characterized by impaired development of sensory and afferent autonomic nerves. ...
OBJECTIVE: Familial dysautonomia (FD) is an autosomal recessive disorder characterized by impaired development of sensory and …
Longitudinal changes in the macula and optic nerve in familial dysautonomia.
Kfir J, Wu M, Liu M, Raju L, Schuman JS, Ishikawa H, Vanegas IM, Mendoza-Santiesteban CE, Palma JA, Norcliffe-Kaufmann L, Morgenstein B, Kaufmann H, Wollstein G. Kfir J, et al. J Neurol. 2021 Apr;268(4):1402-1409. doi: 10.1007/s00415-020-10298-4. Epub 2020 Nov 12. J Neurol. 2021. PMID: 33180192 Free PMC article.
OBJECTIVE: Familial Dysautonomia (FD) disease, lacks a useful biomarker for clinical monitoring. ...
OBJECTIVE: Familial Dysautonomia (FD) disease, lacks a useful biomarker for clinical monitoring. ...
151 results