X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP)
Data up to Jan 2025
Total Citations Per Year
Abstract
References (8)
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
1989 • 3,557 citations
X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus
1994 • 348 citations
A cellular mechanism governing the severity of Pelizaeus–Merzbacher disease
1996 • 224 citations
Proteolipid Protein Is Necessary in Peripheral as Well as Central Myelin
1997 • 149 citations
Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant.
1989 • 118 citations
Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia
1996 • 65 citations
Ahallpolymorphism in human X-linked proteolipid protein gene (PLP)
1991 • 21 citations
Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene
1997 • 19 citations