Inherited amyloid polyneuropathy type IV (gelsolin variant) in a Japanese family

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

The Metabolic Basis of Inherited Disease

1990 • 4,327 citations

Control of cytoplasmic actin gel–sol transformation by gelsolin, a calcium-dependent regulatory protein

1979 • 782 citations

Modulation of gelsolin function by phosphatidylinositol 4,5-bisphosphate

1987 • 624 citations

Nonmuscle Actin-Binding Proteins

1985 • 589 citations

Plasma and cytoplasmic gelsolins are encoded by a single gene and contain a duplicated actin-binding domain

1986 • 477 citations

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

1989 • 330 citations

Peripheral Neuropathy

1985 • 276 citations

Variant apolipoprotein AI as a major constituent of a human hereditary amyloid

1988 • 229 citations

Structure and biosynthesis of cytoplasmic and secreted variants of gelsolin.

1984 • 215 citations

Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome.

1969 • 215 citations

Genomic organization and biosynthesis of secreted and cytoplasmic forms of gelsolin

1988 • 165 citations

Mutation in gelsolin gene in Finnish hereditary amyloidosis.

1990 • 161 citations

Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification

1989 • 148 citations

Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene

1990 • 134 citations

Finnish hereditary amyloidosis

1990 • 119 citations

Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein

1990 • 94 citations

Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type

1990 • 85 citations

Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.

1979 • 84 citations

Hereditary amyloidosis

1970 • 73 citations

Localization of gelsolin proximal to ABL on chromosome 9.

1988 • 69 citations

Isolation and characterization of cardiac amyloid in familial amyloid polyneuropathy type IV (Finnish): relation of the amyloid protein to variant gelsolin

1990 • 62 citations

Lattice Corneal Dystrophy Associated with Familial Systemic Amyloidosis (Meretoja's Syndrome)

1983 • 61 citations

Amyloidosis Due to a Mutation of the Gelsolin Gene in an American Family with Lattice Corneal Dystrophy Type II

1991 • 60 citations

Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy

1986 • 52 citations

Three forms of dominant amyloid neuropathy.

1981 • 48 citations

Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families.

1991 • 44 citations

[An hereditary syndrome consisting of peripheral polyneuropathy, skin changes and lattice-shaped corneal dystrophy].

1971 • 43 citations

Partial characterization of amyloid proteins in inherited amyloidosis with lattice corneal dystrophy and in secondary amyloidosis.

1978 • 19 citations