Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1996 • 2,983 citations

The 1993–94 Généthon human genetic linkage map

1994 • 1,870 citations

X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus

1994 • 348 citations

Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation.

1990 • 230 citations

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

1910 • 182 citations

Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease.

1991 • 152 citations

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

1885 • 151 citations

Proteolipid Protein Is Necessary in Peripheral as Well as Central Myelin

1997 • 149 citations

Duplication of the proteolipid protein gene is the major cause of Pelizaeus‐Merzbacher disease

1998 • 146 citations

Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory

1997 • 139 citations

Genetics of Pelizaeus-Merzbacher Disease

1993 • 137 citations

A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR.

1996 • 118 citations

Pelizaeus-Merzbacher Disease: Identification of Xq22 Proteolipid-Protein Duplications and Characterization of Breakpoints by Interphase FISH

1998 • 108 citations

Pelizaeus-Merzbacher Disease: Clinical and Nosological Study

1986 • 105 citations

Molecular characterization of de novo secondary trisomy 13.

1994 • 102 citations

Neuropathology and Genetics of Pelizaeus‐Merzbacher Disease

1995 • 97 citations

Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination.

1991 • 95 citations

X-Linked Developmental Defects of Myelination: From Mouse Mutants to Human Genetic Diseases

1996 • 83 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

Charcot-Marie-Tooth Disease: Lessons in Genetic Mechanisms

1998 • 75 citations

Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia

1996 • 65 citations

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

1994 • 62 citations

A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family

1996 • 59 citations

Novel Nonsense Proteolipid Protein Gene Mutation as a Cause of X-Linked Spastic Paraplegia in Twin Males

1995 • 46 citations

Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease.

1997 • 41 citations

Charcot-Marie-Tooth Disease: A Gene-Dosage Effect

1997 • 35 citations

Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease

1997 • 34 citations

Pelizaeus-Merzbacher disease: Three novel mutations and implication for locus heterogeneity

1999 • 30 citations

Duplication of proteolipid protein gene: A possible major cause of Pelizaeus-Merzbacher disease

1997 • 28 citations

Visualization of the CMT1A duplication and HNPP deletion by FISH on stretched chromosome fibers.

1997 • 17 citations

Dinucleotide repeat polymorphism in the proteolipoprotein (PLP) gene

1995 • 16 citations

HANDBOOK OF CLINICAL NEUROLOGY: Leucodystrophies and poliodystrophies

1971 • 14 citations

Pelizaeus-Merzbacher-like disease: Exclusion of the proteolipid protein locus and documentation of a new locus on Xq

1997 • 14 citations

Mutations in the Proteolipid Protein Gene in Japanese Families with Pelizaeus-Merzbacher Disease

1997 • 11 citations

X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP)

1998 • 11 citations

Pelizaeus-Merzbacher disease: A novel mutation in the 5′-untranslated region of the proteolipid protein gene

1996 • 8 citations

Mval polymorphism in the proteolipid protein (PLP) gene

1995 • 7 citations

Short Report on DNA Marker at Candidate Locus

1997 • 3 citations

High-resolution FISH of stretched chromosome fibers

1997 • 2 citations