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Quoted phrase not found in phrase index: "Hereditary sensory and autonomic neuropathy type 7"
Page 1
Inherited neuropathies.
Chance PF, Reilly M. Chance PF, et al. Curr Opin Neurol. 1994 Oct;7(5):372-80. doi: 10.1097/00019052-199410000-00002. Curr Opin Neurol. 1994. PMID: 7804455 Review.
Dejerine-Sottas disease is a severe, infantile-onset demyelinating polyneuropathy that may be associated with point mutations in either the PMP22 gene or the P0 gene. Hereditary neuropathy with liability to pressure palsies (HNPP) is a recurrent, episodic demyelinat …
Dejerine-Sottas disease is a severe, infantile-onset demyelinating polyneuropathy that may be associated with point mutations in either the …
Hereditary sensory neuropathy type I.
Auer-Grumbach M. Auer-Grumbach M. Orphanet J Rare Dis. 2008 Mar 18;3:7. doi: 10.1186/1750-1172-3-7. Orphanet J Rare Dis. 2008. PMID: 18348718 Free PMC article. Review.
Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood dis …
Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prom …
Clinical and apparative investigation of large and small nerve fiber impairment in mixed cohort of ATTR-amyloidosis: impact on patient management and new insights in wild-type.
Papagianni A, Ihne S, Zeller D, Morbach C, Üçeyler N, Sommer C. Papagianni A, et al. Amyloid. 2022 Mar;29(1):14-22. doi: 10.1080/13506129.2021.1976751. Epub 2021 Oct 11. Amyloid. 2022. PMID: 34632904
METHODS: A mixed cohort of patients with ATTR amyloidosis (wild type-wt, hereditary-v and TTR gene mutation carriers) of the Interdisciplinary Amyloidosis Centre of Northern Bavaria underwent clinical examination, nerve conduction studies (NCS), quantitative sens …
METHODS: A mixed cohort of patients with ATTR amyloidosis (wild type-wt, hereditary-v and TTR gene mutation carriers) of the I …
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.
Nicita F, Ginevrino M, Travaglini L, D'Arrigo S, Zorzi G, Borgatti R, Terrone G, Catteruccia M, Vasco G, Brankovic V, Siliquini S, Romano S, Veredice C, Pedemonte M, Armando M, Lettori D, Stregapede F, Bosco L, Sferra A, Tessarollo V, Romaniello R, Ristori G, Bertini E, Valente EM, Zanni G. Nicita F, et al. J Med Genet. 2021 Jul;58(7):475-483. doi: 10.1136/jmedgenet-2020-107007. Epub 2020 Jul 31. J Med Genet. 2021. PMID: 32737135
BACKGROUND: Dominant and recessive variants in the KIF1A gene on chromosome 2q37.3 are associated with several phenotypes, although only three syndromes are currently listed in the OMIM classification: hereditary sensory and autonomic neuropathy …
BACKGROUND: Dominant and recessive variants in the KIF1A gene on chromosome 2q37.3 are associated with several phenotypes, although only thr …
Elucidating the chemical structure of native 1-deoxysphingosine.
Steiner R, Saied EM, Othman A, Arenz C, Maccarone AT, Poad BL, Blanksby SJ, von Eckardstein A, Hornemann T. Steiner R, et al. J Lipid Res. 2016 Jul;57(7):1194-203. doi: 10.1194/jlr.M067033. Epub 2016 May 10. J Lipid Res. 2016. PMID: 27165858 Free PMC article.
Pathologically elevated 1-deoxySL levels are associated with the rare inherited neuropathy, HSAN1, and diabetes type 2 and might contribute to beta cell failure and the diabetic sensory neuropathy. ...
Pathologically elevated 1-deoxySL levels are associated with the rare inherited neuropathy, HSAN1, and diabetes type 2 and mig …
Molecular genetic analysis in 21 Chinese families with congenital insensitivity to pain with or without anhidrosis.
Zhao F, Mao B, Geng X, Ren X, Wang Y, Guan Y, Li S, Li L, Zhang S, You Y, Cao Y, Yang T, Zhao X. Zhao F, et al. Eur J Neurol. 2020 Aug;27(8):1697-1705. doi: 10.1111/ene.14234. Epub 2020 Apr 28. Eur J Neurol. 2020. PMID: 32219930
BACKGROUND AND PURPOSE: Hereditary sensory and autonomic neuropathies (HSANs) are a group of clinically and genetically heterogeneous neurological disorders characterized by sensory dysfunctions. Here, 21 affected Chinese families are rep …
BACKGROUND AND PURPOSE: Hereditary sensory and autonomic neuropathies (HSANs) are a group of clinically a …
Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli.
Loggia ML, Bushnell MC, Tétreault M, Thiffault I, Bhérer C, Mohammed NK, Kuchinad AA, Laferrière A, Dicaire MJ, Loisel L, Mogil JS, Brais B. Loggia ML, et al. J Neurosci. 2009 Feb 18;29(7):2162-6. doi: 10.1523/JNEUROSCI.4633-08.2009. J Neurosci. 2009. PMID: 19228968 Free PMC article.
Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is a rare recessive genetic disorder characterized by severe sensory loss affecting the tactile, thermal and nociceptive modalities. ...
Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is a rare recessive genetic disorder ch …
Surveillance for disease progression of transthyretin amyloidosis after heart transplantation in the era of novel disease modifying therapies.
Griffin JM, Baughan E, Rosenblum H, Clerkin KJ, Fried JA, Raikhelkar J, Uriel N, Brannagan TH, Takeda K, Grodin JL, Marboe C, Maurer MS, Farr MA. Griffin JM, et al. J Heart Lung Transplant. 2022 Feb;41(2):199-207. doi: 10.1016/j.healun.2021.10.007. Epub 2021 Oct 25. J Heart Lung Transplant. 2022. PMID: 34922822
Baseline demographics and post-HT manifestations of TTR deposition were collected. All patients completed the Composite Autonomic Symptom Score (COMPASS-31 quantifies autonomic symptoms, with a higher score [0-100] indicating more severe autonomic dysfunction …
Baseline demographics and post-HT manifestations of TTR deposition were collected. All patients completed the Composite Autonomic Sym …
Assessing microcirculation in familial dysautonomia by laser Doppler flowmeter.
Weiser M, Hilz MJ, Bronfin L, Axelrod FB. Weiser M, et al. Clin Auton Res. 1998 Feb;8(1):13-23. doi: 10.1007/BF02267599. Clin Auton Res. 1998. PMID: 9532416
Phentolamine iontophoresis differentiated familial dysautonomia subjects into responders and nonresponders by 7-8 min when all nine control subjects, but only five of 11 familial dysautonomia subjects, had > 200% increase in blood flow. Irrespective of pretreatment t …
Phentolamine iontophoresis differentiated familial dysautonomia subjects into responders and nonresponders by 7-8 min when all nine c …
Intranasal "painless" human Nerve Growth Factor [corrected] slows amyloid neurodegeneration and prevents memory deficits in App X PS1 mice.
Capsoni S, Marinelli S, Ceci M, Vignone D, Amato G, Malerba F, Paoletti F, Meli G, Viegi A, Pavone F, Cattaneo A. Capsoni S, et al. PLoS One. 2012;7(5):e37555. doi: 10.1371/journal.pone.0037555. Epub 2012 May 30. PLoS One. 2012. PMID: 22666365 Free PMC article.
In this study we exploit forms of NGF, mutated at residue R100, inspired by the human genetic disease HSAN V (Hereditary Sensory Autonomic Neuropathy Type V), which would allow increasing the dose of NGF without triggering pain. ...
In this study we exploit forms of NGF, mutated at residue R100, inspired by the human genetic disease HSAN V (Hereditary Sensory …