arginine and Spastic Paraplegia, Hereditary

arginine has been researched along with Spastic Paraplegia, Hereditary in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (25.00)18.2507
2000's1 (25.00)29.6817
2010's2 (50.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Battini, R; Catania, A; Chiapparini, ML; Garavaglia, B; Ghezzi, D; Nardocci, N; Pasquariello, R; Pippucci, T; Seri, M; Tiranti, V; Zorzi, G1
Alonso, I; Brice, A; Calvas, P; Charles, P; Coutelier, M; Coutinho, P; Darios, F; Depienne, C; Dionne-Laporte, A; Durand, CM; Durr, A; Gaussen, M; Goizet, C; Habarou, F; Jacoupy, M; Janin, M; Kennerson, M; Konop, J; Loureiro, JL; Mairey, M; Matusiak, R; Mochel, F; Morais, S; Morice-Picard, F; Nicholson, G; Ottolenghi, C; Rouleau, G; Saudubray, JM; Schule, R; Stevanin, G; Stoll, M; Tallaksen, C; Tao, F; Zuchner, S1
Aridon, P; Casari, G; De Fusco, M; Lo Coco, D; Ragonese, P; Salemi, G; Savettieri, G1
Chitayat, D; Fransen, E; Holden, JJ; Van Camp, G; Vits, L; Willems, PJ1

Other Studies

4 other study(ies) available for arginine and Spastic Paraplegia, Hereditary

ArticleYear
R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome.
    Neurogenetics, 2018, Volume: 19, Issue:3

    Topics: Adult; Amino Acid Substitution; Arginine; Case-Control Studies; Cells, Cultured; Child; Child, Preschool; Consanguinity; Cysteine; Female; Follow-Up Studies; Genetic Predisposition to Disease; Humans; Male; Middle Aged; Mutation, Missense; Neuroaxonal Dystrophies; Pedigree; Proteins; Siblings; Spastic Paraplegia, Hereditary

2018
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
    Brain : a journal of neurology, 2015, Volume: 138, Issue:Pt 8

    Topics: Adolescent; Adult; Aldehyde Dehydrogenase; Arginine; Female; Glutamic Acid; Humans; Male; Middle Aged; Mutation; Ornithine; Pedigree; Phenotype; Spastic Paraplegia, Hereditary; Young Adult

2015
Autosomal dominant hereditary spastic paraplegia: report of a large Italian family with R581X spastin mutation.
    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2007, Volume: 28, Issue:4

    Topics: Adenosine Triphosphatases; Adult; Aged; Arginine; DNA Mutational Analysis; Family Health; Female; Genotype; Humans; Italy; Lod Score; Male; Middle Aged; Mutation; Spastic Paraplegia, Hereditary; Spastin

2007
Evidence for somatic and germline mosaicism in CRASH syndrome.
    Human mutation, 1998, Volume: Suppl 1

    Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Amino Acid Substitution; Arginine; DNA; DNA Mutational Analysis; Family Health; Female; Genetic Linkage; Germ-Line Mutation; Humans; Hydrocephalus; Intellectual Disability; Leukocyte L1 Antigen Complex; Male; Membrane Glycoproteins; Mosaicism; Mutation; Neural Cell Adhesion Molecules; Pedigree; Polymorphism, Single-Stranded Conformational; Proline; Spastic Paraplegia, Hereditary; Thumb; X Chromosome

1998