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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: Paraplegia and PLP1[original query]
PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1.
Neurogenetics 2006 Mar 7 (1): 31-7.
Combes Patricia, Bonnet-Dupeyron Marie-Noelle, Gauthier-Barichard Fernande, Schiffmann Raphael, Bertini Enrico, Rodriguez Diana, Armour John A L, Boespflug-Tanguy Odile, Vaurs-Barrière Catheri
The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome.
Journal of neurology 2007 Sep 254 (9): 1221-6.
DeLuca G C, Ramagopalan S V, Cader M Z, Dyment D A, Herrera B M, Orton S, Degenhardt A, Pugliatti M, Sadovnick A D, Sotgiu S, Ebers G
PLP1 Mutations in Patients with Multiple Sclerosis: Identification of a New Mutation and Potential Pathogenicity of the Mutations.
Journal of clinical medicine 2018 10 7 (10): .
Cloake Nancy C, Yan Jun, Aminian Atefeh, Pender Michael P, Greer Judith
Symptomatic Female Spastic Paraplegia Patient with a Novel Heterozygous Variant of the PLP1 Gene.
Annals of Indian Academy of Neurology 2022 4 24 (6): 958-960.
Kim Ae Ryoung, Lee Yun-Jeong, Kwack Mi Hee, Lee Jong-M
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
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