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

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

1991 • 2,763 citations

Strategies for multilocus linkage analysis in humans.

1984 • 2,600 citations

Easy calculations of lod scores and genetic risks on small computers.

1984 • 1,526 citations

CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIAS

1983 • 918 citations

Report of the committee on the genetic constitution of the X chromosome (Part 1 of 3)

1990 • 597 citations

A Direct Repeat Is a Hotspot for Large-Scale Deletion of Human Mitochondrial DNA

1989 • 566 citations

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

1990 • 456 citations

Mendelian inheritance in man

1993 • 430 citations

Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A

1992 • 422 citations

HOMOSEXUALITY AS A CRIME.

1965 • 338 citations

Modification of enzymatic-ally amplified DNA for the detection of point mutations

1989 • 330 citations

A mutation in the human ryanodine receptor gene associated with central core disease

1993 • 327 citations

Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

1993 • 250 citations

Assignment of the Gene for Myelin Proteolipid Protein to the X Chromosome: Implications for X-Linked Myelin Disorders

1985 • 213 citations

Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene

1992 • 212 citations

Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome.

1988 • 206 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

DM‐20 mRNA Is Expressed During the Embryonic Development of the Nervous System of the Mouse

1992 • 173 citations

A Single Nucleotide Difference in the Gene for Myelin Proteolipid Protein Defines the Jimpy Mutation in Mouse

1987 • 167 citations

Five polymorphic microsatellite VNTRs on the human X chromosome.

1990 • 164 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

The structural gene coding for myelin-associated proteolipid protein is mutated in jimpy mice

1986 • 154 citations

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

1991 • 152 citations

Myelin-deficient rat: a point mutation in exon III (A----C, Thr75----Pro) of the myelin proteolipid protein causes dysmyelination and oligodendrocyte death.

1989 • 129 citations

Progress in the molecular understanding of hereditary peripheral neuropathies reveals new insights into the biology of the peripheral nervous system

1993 • 122 citations

A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers

1992 • 120 citations

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

1989 • 118 citations

A point mutation in the proteolipid protein gene of the ‘shaking pup’ interrupts oligodendrocyte development

1990 • 115 citations

Linkage studies of X-linked recessive spastic paraplegia using DNA probes

1986 • 111 citations

Pelizaeus-Merzbacher Disease: Clinical and Nosological Study

1986 • 105 citations

Conservative amino acid substitution in the myelin proteolipid protein of jimpymsd mice.

1990 • 96 citations

A sex-linked recessive form of spastic paraplegia.

1962 • 95 citations

Conservative amino acid substitution in the myelin proteolipid protein of jimpymsd mice

1990 • 85 citations

Report of the committee on the genetic constitution of the X chromosome (Part 1 of 7)

1991 • 79 citations

Etiological heterogeneity in X-linked spastic paraplegia.

1987 • 73 citations

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

1991 • 66 citations

Evidence from antibody studies that the CAG repeat in the Huntington disease gene is expressed in the protein

1995 • 62 citations

Genetic mapping of four dinucleotide repeat loci, DXS453, DXS458, DXS454, and DXS424, on the X chromosome using multiplex polymerase chain reaction

1992 • 52 citations

X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype

1989 • 46 citations

X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.

1993 • 45 citations

Two CA-dinucleotide polymorphisms at the COL4A5 (Alport syndrome) gene in Xq22

1992 • 44 citations

Developmental Study of Proteolipids in Bovine Brain: A Novel Proteolipid and DM‐20 Appear Before Proteolipid Protein (PLP) During Myelination

1990 • 44 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

Hereditary cerebral palsy

1957 • 40 citations

Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.

1992 • 39 citations

X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg.

1976 • 31 citations

Two kindreds with a sex-linked recessive form of spastic paraplegia.

1971 • 30 citations

A missense mutation in the proteolipid protein gene responsible for Pelizaeus—Merzbacher disease in a Japanese family

1993 • 29 citations

Pelizaeus — Merzbacher disease: a frameshift deletion/insertion event in the myelin proteolipid gene

1993 • 22 citations

Ahallpolymorphism in human X-linked proteolipid protein gene (PLP)

1991 • 21 citations

Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred.

1993 • 21 citations

Heterogeneity of X‐linked recessive (Spino)cerebellar ataxia with or without spastic diplegia

1989 • 19 citations

Report of the committee on the genetic constitution of the X chromosome (Part 7 of 7)

1991 • 9 citations

Localization of the highly polymorphic microsatellite DXS456 on the genetic linkage map of the human X chromosome

1991 • 6 citations