Overexpression of DM20 messenger RNA in two brothers with pelizaeus‐merzbacher disease

Molecular cloning: A laboratory manual

1990 • 85,659 citations

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1987 • 64,270 citations

Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction

1987 • 45,673 citations

A simple salting out procedure for extracting DNA from human nucleated cells

1988 • 20,341 citations

The nucleotide sequence of the rat cytoplasmic β–actin gene

1983 • 1,059 citations

Illegitimate transcription: transcription of any gene in any cell type.

1989 • 647 citations

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

1993 • 325 citations

Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene

1994 • 263 citations

MULTIPLEX PCR FOR THE DIAGNOSIS OF DUCHENNE MUSCULAR DYSTROPHY

1990 • 231 citations

Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.

1989 • 205 citations

Eine eigenartige familiär-hereditäre erkrankungsform (Aplasia axialis extracorticalis congenita)

1910 • 182 citations

Individual exons encode the integral membrane domains of human myelin proteolipid protein.

1986 • 177 citations

Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.

1989 • 157 citations

Ueber eine eigenthümliche Form spastischer Lähmung mit Cerebralerscheinungen auf hereditärer Grundlage. (Multiple Sklerose)

1885 • 151 citations

Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant.

1989 • 118 citations

Pelizaeus-Merzbacher Disease: Clinical and Nosological Study

1986 • 105 citations

Defective biosynthesis of proteolipid protein in pelizaeus‐merzbacher disease

1987 • 105 citations

Demyelination in a transgenic mouse: A model for multiple sclerosis

1993 • 85 citations

DM20 mRNA splice product of the myelin proteolipid protein gene is expressed in the murine heart

1992 • 82 citations

An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region

1987 • 78 citations

The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome

1986 • 74 citations

Structure and expression of proteolipid protein in the peripheral nervous system

1992 • 70 citations

Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect.

1993 • 69 citations

Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid.

1991 • 66 citations

Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group.

1994 • 62 citations

Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease.

1992 • 43 citations

A new mutation in the proteolipid protein (PLP) gene in a German family with pelizaeus‐merzbacher disease

1991 • 41 citations

Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.

1990 • 39 citations

Ectopic (Illegitimate) Transcription: New Possibilities for the Analysis and Diagnosis of Human Genetic Disease

1994 • 37 citations

Effect of deletion of glycoprotein IIb exon 28 on the expression of the platelet glycoprotein IIb/IIIa complex

1991 • 36 citations

Magnetic resonance imaging and computed tomography in Pelizaeus-Merzbacher disease

1990 • 34 citations

New variant in exon 3 of the proteolipid protein (PLP) gene in a family with pelizaeus‐merzbacher disease

1992 • 25 citations

A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus‐Merzbacher disease

1995 • 15 citations

PELIZAEUS-MERZBACHER DISEASE (FAMILIAL CENTRO-LOBAR SCLEROSIS)

1931 • 9 citations

Adenosine deaminase deficiency due to heterozygous abnormality consisting of a deletion of exon 7 and the absence of enzyme mRNA

1991 • 6 citations