Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: Paraplegia and REEP1[original query] |
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Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). BMC medical genetics 2008 9 (1): 71. Schlang Katharina J, Arning Larissa, Epplen Joerg T, Stemmler Susan |
New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). Neurogenetics 2009 Apr 10 (2): 105-10. Hewamadduma Channa, McDermott Christopher, Kirby Janine, Grierson Andrew, Panayi Maria, Dalton Ann, Rajabally Yusuuf, Shaw Pame |
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. Clinical genetics 2011 Jun 79 (6): 523-30. McCorquodale D S, Ozomaro U, Huang J, Montenegro G, Kushman A, Citrigno L, Price J, Speziani F, Pericak-Vance M A, Züchner |
Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients. Journal of the neurological sciences 2015 Dec 359 (1-2): 35-9. Elert-Dobkowska Ewelina, Stepniak Iwona, Krysa Wioletta, Rajkiewicz Marta, Rakowicz Maria, Sobanska Anna, Rudzinska Monika, Wasielewska Anna, Pilch Jacek, Kubalska Jolanta, Lipczynska-Lojkowska Wanda, Kulczycki Jerzy, Kurdziel Katarzyna, Sikorska Agata, Beetz Christian, Zaremba Jacek, Sulek An |
A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings. Journal of neurology 2016 Jun . Polymeris Alexandros A, Tessa Alessandra, Anagnostopoulou Katherine, Rubegni Anna, Galatolo Daniele, Dinopoulos Argirios, Gika Artemis D, Youroukos Sotiris, Skouteli Eleni, Santorelli Filippo M, Pons Ros |
Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis. Annals of neurology 2018 Jun . Jia Xiaoming, Madireddy Lohith, Caillier Stacy, Santaniello Adam, Esposito Federica, Comi Giancarlo, Stuve Olaf, Zhou Yuan, Taylor Bruce, Kilpatrick Trevor, Martinelli-Boneschi Filippo, Cree Bruce A C, Oksenberg Jorge R, Hauser Stephen L, Baranzini Sergio |
Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families. Frontiers in neurology 2020 7 11 499. Ma Xinran, He Ji, Liu Xiaoxuan, Fan Dongshe |
Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia. Frontiers in neurology 2022 5 13 872927. Shi Yuzhi, Wang An, Chen Bin, Wang Xingao, Niu Songtao, Li Wei, Li Shaowu, Zhang Zaiqia |
Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review. Molecular syndromology 2023 12 14 (6): 477-484. Aida Ghasemi, Zahra Sadr, Mojgan Babanejad, Mohammad Rohani, Afagh Ala |
- Page last reviewed:Feb 1, 2024
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