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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Sensory Neuropathy Type 1[original query]
[Spectrum and frequency of mutations in the connexin 32 gene (GJB1) in hereditary and sensory neuropathy type 1X patients from Bashkortostan].
Genetika 2008 Oct 44 (10): 1385-91.
Khidiianova I M, Bagautdinova E G, Galieva D V, Krupina N B, Shchagina O A, Tiburkova T B, Magzhanov R V, Poliakov A V, Khusnutdinova E
Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.
Molecular medicine reports 2013 Dec 8 (6): 1779-84.
Brožková Dana Šafka, Posádka Jan, Laššuthová Petra, Mazanec Radim, Haberlová Jana, Sišková Dana, Sakmaryová Iva, Neupauerová Jana, Seeman Pav
Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort.
Brain communications 2023 3 5 (2): fcad037.
Themistocleous Andreas C, Baskozos Georgios, Blesneac Iulia, Comini Maddalena, Megy Karyn, Chong Sam, Deevi Sri V V, Ginsberg Lionel, Gosal David, Hadden Robert D M, Horvath Rita, Mahdi-Rogers Mohamed, Manzur Adnan, Mapeta Rutendo, Marshall Andrew, Matthews Emma, McCarthy Mark I, Reilly Mary M, Renton Tara, Rice Andrew S C, Vale Tom A, van Zuydam Natalie, Walker Suellen M, Woods Christopher Geoffrey, Bennett David L
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