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Quoted phrase not found in phrase index: "Neuropathy, hereditary sensory and autonomic, type 2B"
Page 1
Hereditary sensory neuropathies.
Houlden H, Blake J, Reilly MM. Houlden H, et al. Curr Opin Neurol. 2004 Oct;17(5):569-77. doi: 10.1097/00019052-200410000-00007. Curr Opin Neurol. 2004. PMID: 15367861 Review.
The hereditary sensory neuropathies, also known as the hereditary sensory and autonomic neuropathies, are a clinically and genetically heterogeneous group of disorders. ...This review will concentrate on the recent genetic a …
The hereditary sensory neuropathies, also known as the hereditary sensory and autonomic …
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.
Hereditary sensory neuropathies (HSNs) are a group of genetically determined peripheral neuropathies with prominent disturbance of the peripheral sensory neurons. ...However, at least one more hitherto unknown gene responsible for autosomal-domi …
Hereditary sensory neuropathies (HSNs) are a group of genetically determined peripheral neuropathies with promin …
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P, Timmerman V. Rotthier A, et al. Brain. 2009 Oct;132(Pt 10):2699-711. doi: 10.1093/brain/awp198. Epub 2009 Aug 3. Brain. 2009. PMID: 19651702 Free PMC article.
Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory and autonomic neurons. …
Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorde …
Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci.
Auer-Grumbach M, Wagner K, Timmerman V, De Jonghe P, Hartung HP. Auer-Grumbach M, et al. Neurology. 2000 Jan 11;54(1):45-52. doi: 10.1212/wnl.54.1.45. Neurology. 2000. PMID: 10636124
OBJECTIVE: To elucidate genetic heterogeneity in ulcero-mutilating neuropathy. BACKGROUND: Ulcero-mutilating features and sensory loss have been observed in hereditary sensory neuropathy (HSN) and hereditary motor and sensory ne …
OBJECTIVE: To elucidate genetic heterogeneity in ulcero-mutilating neuropathy. BACKGROUND: Ulcero-mutilating features and sensory …
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.
Taşdelen E, Calame DG, Akay G, Mitani T, Fatih JM, Herman I, Du H, Coban-Akdemir Z, Marafi D, Jhangiani SN, Posey JE, Gibbs RA, Altıparmak T, Kutlay NY, Lupski JR, Pehlivan D. Taşdelen E, et al. Am J Med Genet A. 2022 Jul;188(7):2153-2161. doi: 10.1002/ajmg.a.62727. Epub 2022 Mar 24. Am J Med Genet A. 2022. PMID: 35332675 Free PMC article.
Hereditary sensory and autonomic neuropathy type 2B (HSAN2B) is a rare autosomal recessive peripheral neuropathy caused by biallelic variants in RETREG1 (formerly FAM134B). HSAN2B is characterized by sensory impairment resul …
Hereditary sensory and autonomic neuropathy type 2B (HSAN2B) is a rare autosomal recessive periphe …