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

Year Number of Results
1970 1
1977 2
1978 3
1979 1
1980 3
1981 3
1982 6
1983 4
1984 7
1985 7
1986 8
1987 7
1988 9
1989 14
1990 21
1991 13
1992 20
1993 20
1994 22
1995 21
1996 18
1997 20
1998 25
1999 33
2000 23
2001 25
2002 19
2003 32
2004 38
2005 29
2006 47
2007 44
2008 41
2009 48
2010 60
2011 61
2012 57
2013 65
2014 66
2015 70
2016 58
2017 51
2018 51
2019 74
2020 69
2021 62
2022 38
2023 41
2024 12

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1,305 results

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Page 1
Hereditary Neuropathies.
Eggermann K, Gess B, Häusler M, Weis J, Hahn A, Kurth I. Eggermann K, et al. Dtsch Arztebl Int. 2018 Feb 9;115(6):91-97. doi: 10.3238/arztebl.2018.0091. Dtsch Arztebl Int. 2018. PMID: 29478438 Free PMC article. Review.
METHODS: This review is based on pertinent publications retrieved by a PubMed search employing the search terms "hereditary neuropathy," "Charcot-Marie-Tooth disease," "hereditary sensory neuropathy," and "hereditary motor neuropathy." RESULTS: With rare exceptions, …
METHODS: This review is based on pertinent publications retrieved by a PubMed search employing the search terms "hereditary neuropathy," "Ch …
Acro-osteolysis.
Botou A, Bangeas A, Alexiou I, Sakkas LI. Botou A, et al. Clin Rheumatol. 2017 Jan;36(1):9-14. doi: 10.1007/s10067-016-3459-7. Epub 2016 Oct 29. Clin Rheumatol. 2017. PMID: 27796661 Review.
It is often associated with distal digital ischemia, digital calcinosis, or severe sensory neuropathy. Acro-osteolysis has been associated with a heterogeneous group of disorders, including occupational activities, infections, rheumatic disorders (systemic sclerosis …
It is often associated with distal digital ischemia, digital calcinosis, or severe sensory neuropathy. Acro-osteolysis has bee …
The nonsystemic vasculitic neuropathies.
Collins MP, Hadden RD. Collins MP, et al. Nat Rev Neurol. 2017 Apr 27;13(5):302-316. doi: 10.1038/nrneurol.2017.42. Nat Rev Neurol. 2017. PMID: 28447661 Review.
In this Review, we provide an update on the classification, diagnosis and treatment of NSVN. NSVN subtypes include Wartenberg migratory sensory neuropathy and postsurgical inflammatory neuropathy. Variants include diabetic radiculoplexus neuropathy and - arguably - …
In this Review, we provide an update on the classification, diagnosis and treatment of NSVN. NSVN subtypes include Wartenberg migratory s
Charcot-Marie-tooth disease.
Casasnovas C, Cano LM, Albertí A, Céspedes M, Rigo G. Casasnovas C, et al. Foot Ankle Spec. 2008 Dec;1(6):350-4. doi: 10.1177/1938640008326247. Epub 2008 Oct 22. Foot Ankle Spec. 2008. PMID: 19825739 Review.
Charcot-Marie-Tooth disease (CMT) or hereditary motor and sensory neuropathy constitutes a genetically heterogeneous group of diseases that affect the peripheral nervous system. ...
Charcot-Marie-Tooth disease (CMT) or hereditary motor and sensory neuropathy constitutes a genetically heterogeneous group of …
HIV peripheral neuropathy.
Gabbai AA, Castelo A, Oliveira AS. Gabbai AA, et al. Handb Clin Neurol. 2013;115:515-29. doi: 10.1016/B978-0-444-52902-2.00029-1. Handb Clin Neurol. 2013. PMID: 23931799
Peripheral neuropathies are the most common neurological manifestations occurring in HIV-infected individuals. Distal symmetrical sensory neuropathy is the most common form encountered today and is one of the few that are specific to HIV infection or its treatment. …
Peripheral neuropathies are the most common neurological manifestations occurring in HIV-infected individuals. Distal symmetrical sensory
TRPV4-associated skeletal dysplasias.
Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A, Unger S. Nishimura G, et al. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):190-204. doi: 10.1002/ajmg.c.31335. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791502 Review.
Interestingly, different TRPV4 mutations have been associated with dominantly inherited neurologic disorders such as congenital spinal muscular atrophy and hereditary motor and sensory neuropathy. Finally, a small number of patients have been identified in whom a TR …
Interestingly, different TRPV4 mutations have been associated with dominantly inherited neurologic disorders such as congenital spinal muscu …
Autosomal recessive Charcot-Marie-Tooth neuropathy.
Espinós C, Calpena E, Martínez-Rubio D, Lupo V. Espinós C, et al. Adv Exp Med Biol. 2012;724:61-75. doi: 10.1007/978-1-4614-0653-2_5. Adv Exp Med Biol. 2012. PMID: 22411234 Review.
Charcot-Marie-Tooth (CMT) disease, a hereditary motor and sensory neuropathy that comprises a complex group of more than 50 diseases, is the most common inherited neuropathy. ...
Charcot-Marie-Tooth (CMT) disease, a hereditary motor and sensory neuropathy that comprises a complex group of more than 50 di …
Hereditary sensory neuropathies.
Auer-Grumbach M. Auer-Grumbach M. Drugs Today (Barc). 2004 May;40(5):385-94. doi: 10.1358/dot.2004.40.5.850487. Drugs Today (Barc). 2004. PMID: 15319794 Review.
A spontaneous autosomal-recessive mutation in the Cct4 gene has been reported in the Sprague-Dawley rat strain with early onset sensory neuropathy. Although no curative treatment is available so far, and current therapy is limited to symptom relief, these molecular …
A spontaneous autosomal-recessive mutation in the Cct4 gene has been reported in the Sprague-Dawley rat strain with early onset sensory
RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit.
Sánchez-Tejerina D, Alvarez PF, Laínez E, Martinez VG, Santa-Cruz DI, Verdaguer L, Gratacòs M, Seoane JL, Raguer N, Hernández-Vara J, Llauradó A, Sotoca J, Salvado M, Arumi EG, Tizzano EF, Juntas R. Sánchez-Tejerina D, et al. J Neurol Sci. 2023 Mar 15;446:120565. doi: 10.1016/j.jns.2023.120565. Epub 2023 Jan 28. J Neurol Sci. 2023. PMID: 36753892
METHODS: We recruited twenty consecutive patients based on the presence of at least two of the following features: progressive ataxia, sensory neuropathy/neuronopathy, vestibulopathy and chronic cough. ...CONCLUSION: Pathogenic RFC1 expansions are a common cause of …
METHODS: We recruited twenty consecutive patients based on the presence of at least two of the following features: progressive ataxia, se
1,305 results