An in-frame deletion in peripheral myelin protein-22 gene causes hypomyelination and cell death of the schwann cells in the new Trembler mutant mice

Molecular Cloning: A Laboratory Manual

2001 • 133,517 citations

Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease

1974 • 874 citations

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1993 • 791 citations

Mutant Mice (Quaking and Jimpy) with Deficient Myelination in the Central Nervous System

1964 • 607 citations

Trembler mouse carries a point mutation in a myelin gene

1992 • 418 citations

A Transgenic Rat Model of Charcot-Marie-Tooth Disease

1996 • 366 citations

Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice

1995 • 360 citations

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

1993 • 325 citations

A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse.

1992 • 286 citations

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

1994 • 263 citations

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

1993 • 250 citations

Jimpy mutant mouse: a 74-base deletion in the mRNA for myelin proteolipid protein and evidence for a primary defect in RNA splicing.

1986 • 219 citations

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

1994 • 217 citations

A myelin protein is encoded by the homologue of a growth arrest-specific gene.

1991 • 217 citations

Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters.

1994 • 182 citations

Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growth.

1995 • 181 citations

Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: its relation to the demyelinating peripheral neuropathy CMT1A.

1995 • 177 citations

Aberrant splicing of proteolipid protein mRNA in the dysmyelinating jimpy mutant mouse.

1987 • 174 citations

Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport

1994 • 159 citations

Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

1993 • 154 citations

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

1993 • 122 citations

From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins

1995 • 119 citations

Rapid Communication: Human Peripheral Myelin Protein‐22 Carries the L2/HNK‐1 Carbohydrate Adhesion Epitope

1993 • 110 citations

Molecular anatomy and genetics of myelin proteins in the peripheral nervous system.

1995 • 105 citations

Hereditary hypertrophic neuropathy in the Trembler mouse

1976 • 103 citations

Arrest of proteolipid transport through the Golgi apparatus in Jimpy brain

1987 • 101 citations

Peripheral myelin protein 22: Facts and hypotheses

1995 • 99 citations

Comparison of Trembler and Trembler-J Mouse Phenotypes

1983 • 99 citations

Dominant-negative action of the jimpy mutation in mice complemented with an autosomal transgene for myelin proteolipid protein.

1995 • 78 citations

Axonal degeneration promotes abnormal accumulation of amyloid β-protein in ascending gracile tract of gracile axonal dystrophy (GAD) mouse

1995 • 72 citations

Myelin proteolipid protein (PLP and DM-20) transcripts are deleted in jimpy mutant mice.

1986 • 71 citations

Hereditary hypertrophic neuropathy in the trembler mouse

1976 • 70 citations

Long Lives for Homozygous Trembler Mutant Mice Despite Virtual Absence of Peripheral Nerve Myelin

1988 • 62 citations

Hereditary Demyelinating Motor and Sensory Neuropathy

1993 • 59 citations

Programmed Cell Death in the Dysmyelinating Mutants

1995 • 58 citations

A 100-kDa protein in the C4-activating component of Ra-reactive factor is a new serine protease having module organization similar to C1r and C1s.

1994 • 58 citations

Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot—Marie— Tooth disease type 1

1994 • 51 citations

Molecular Basis of Common Hereditary Motor and Sensory Neuropathies in Humans and in Mouse Models

1995 • 50 citations

Cell kinetics and cell death in the optic nerve of the myelin deficient rat

1988 • 45 citations

Charcot-Marie-Tooth disease type 1A: mutational mechanisms and candidate gene

1993 • 7 citations

Mapping of the Gracile Axonal Dystrophy (gad) Gene to a Region between D5Mit197 and D5Mit113 on Proximal Mouse Chromosome 5

1995 • 7 citations