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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Disease and HINT1[original query]
HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients.
Molecular biology reports 2019 12 47 (2): 1331-1337.
Shchagina O A, Milovidova T B, Murtazina A F, Rudenskaya G E, Nikitin S S, Dadali E L, Polyakov A
Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2.
Neurogenetics 2019 12 21 (2): 79-86.
Lin Shan, Xu Liu-Qing, Xu Guo-Rong, Guo Ling-Ling, Lin Bi-Juan, Chen Wan-Jin, Wang Ning, Lin Yi, He J
Rare among Rare: Phenotypes of Uncommon CMT Genotypes.
Brain sciences 2021 12 11 (12): .
Gentile Luca, Russo Massimo, Taioli Federica, Ferrarini Moreno, Aguennouz M'Hammed, Rodolico Carmelo, Toscano Antonio, Fabrizi Gian Maria, Mazzeo An
HINT1-related neuropathy in Greek patients with Charcot-Marie-Tooth disease.
Journal of the peripheral nervous system : JPNS 2021 10 26 (4): 444-448.
Kontogeorgiou Zoi, Voudommatis Charalampos, Kartanou Chrisoula, Pandis Dionysis, Breza Marianthi, Zambelis Thomas, Stefanis Leonidas, Panas Marios, Koutsis Georgios, Karadima Georg
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
European journal of neurology 2025 1 32 (1): e16572.
Arman Cakar, Ayse Candayan, Gulandam Bag?rova, Zehra Oya Uyguner, Serdar Ceylaner, Hacer Durmus, Esra Battaloglu, Yesim Parm
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