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1964
2025

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

Year Number of Results
1964 1
1965 1
1966 1
1967 8
1968 10
1969 2
1970 4
1971 8
1972 7
1973 2
1974 6
1975 1
1976 1
1977 1
1978 1
1979 1
1980 1
1981 1
1982 2
1983 2
1985 1
1987 1
1988 3
1989 2
1990 1
1991 2
1992 8
1993 3
1994 3
1995 2
1996 6
1997 2
1998 2
1999 3
2000 6
2001 4
2002 10
2003 13
2004 8
2005 11
2006 13
2007 6
2008 12
2009 7
2010 4
2011 7
2012 11
2013 16
2014 8
2015 12
2016 13
2017 6
2018 10
2019 15
2020 5
2021 8
2022 8
2023 8
2024 6
2025 1

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307 results

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Page 1
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 …
A Clinician's Approach to Peripheral Neuropathy.
Siao P, Kaku M. Siao P, et al. Semin Neurol. 2019 Oct;39(5):519-530. doi: 10.1055/s-0039-1694747. Epub 2019 Oct 22. Semin Neurol. 2019. PMID: 31639835 Review.
Peripheral neuropathies are a group of disorders that affect the peripheral nervous system, for which hundreds of etiologies have been identified. This article presents a stepwise approach to the evaluation and workup of peripheral neuropathy, which starts with a detailed …
Peripheral neuropathies are a group of disorders that affect the peripheral nervous system, for which hundreds of etiologies have bee …
Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.
Adams D, Ando Y, Beirão JM, Coelho T, Gertz MA, Gillmore JD, Hawkins PN, Lousada I, Suhr OB, Merlini G. Adams D, et al. J Neurol. 2021 Jun;268(6):2109-2122. doi: 10.1007/s00415-019-09688-0. Epub 2020 Jan 6. J Neurol. 2021. PMID: 31907599 Free PMC article. Review.
ATTR amyloidosis with PN is the most serious hereditary polyneuropathy of adult onset. It arises from a hereditary mutation in the TTR gene and may involve the heart as well as other organs. ...In nonendemic countries, the disease may present as idiopathic rapidly p …
ATTR amyloidosis with PN is the most serious hereditary polyneuropathy of adult onset. It arises from a hereditary mutation in …
Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies.
Klein CJ. Klein CJ. Continuum (Minneap Minn). 2020 Oct;26(5):1224-1256. doi: 10.1212/CON.0000000000000927. Continuum (Minneap Minn). 2020. PMID: 33003000 Review.
PURPOSE OF REVIEW: This article provides an overview of Charcot-Marie-Tooth disease (CMT) and other inherited neuropathies. These disorders encompass a broad spectrum with variable motor, sensory, autonomic, and other organ system involvement. ...The new clas …
PURPOSE OF REVIEW: This article provides an overview of Charcot-Marie-Tooth disease (CMT) and other inherited neuropathies. These dis …
Cluttering.
Weiss DA. Weiss DA. Folia Phoniatr (Basel). 1967;19(4):233-63. doi: 10.1159/000263150. Folia Phoniatr (Basel). 1967. PMID: 4867297 Review. No abstract available.
Dermatoglyphics.
Achs R, Harper RG. Achs R, et al. Am J Obstet Gynecol. 1968 Aug 1;101(7):1006-23. doi: 10.1016/0002-9378(68)90290-1. Am J Obstet Gynecol. 1968. PMID: 4233053 Review. No abstract available.
Inherited polyneuropathies.
Rinaldi R, Patel A. Rinaldi R, et al. PM R. 2013 May;5(5 Suppl):S63-73. doi: 10.1016/j.pmrj.2013.03.028. Epub 2013 Mar 28. PM R. 2013. PMID: 23542772 Review.
The large degree of clinical heterogeneity within each of the major categories of inherited neuropathies can lead to difficulties in making correct diagnoses based on clinical findings alone. ...
The large degree of clinical heterogeneity within each of the major categories of inherited neuropathies can lead to difficulties in …
Hereditary neuropathies.
Scott KR, Kothari MJ. Scott KR, et al. Semin Neurol. 2005 Jun;25(2):174-84. doi: 10.1055/s-2005-871326. Semin Neurol. 2005. PMID: 15937733 Review.
Hereditary neuropathies represent a clinically diverse group of disorders. Patients can present in a variety of ways-most typically, with slowly progressive distal and symmetric muscle weakness, atrophy, and sensory loss. ...
Hereditary neuropathies represent a clinically diverse group of disorders. Patients can present in a variety of ways-most typi
Guideline of transthyretin-related hereditary amyloidosis for clinicians.
Ando Y, Coelho T, Berk JL, Cruz MW, Ericzon BG, Ikeda S, Lewis WD, Obici L, Planté-Bordeneuve V, Rapezzi C, Said G, Salvi F. Ando Y, et al. Orphanet J Rare Dis. 2013 Feb 20;8:31. doi: 10.1186/1750-1172-8-31. Orphanet J Rare Dis. 2013. PMID: 23425518 Free PMC article. Review.
Transthyretin amyloidosis is a progressive and eventually fatal disease primarily characterized by sensory, motor, and autonomic neuropathy and/or cardiomyopathy. Given its phenotypic unpredictability and variability, transthyretin amyloidosis can be difficult to re …
Transthyretin amyloidosis is a progressive and eventually fatal disease primarily characterized by sensory, motor, and autonomic
307 results