1 |
Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family.
6
57
61
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de la Chapelle A...Maury CP
|
1322359 |
1992 |
2 |
Database for the mutations of the Finnish disease heritage.
57
6
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Sipila K...Aula P
|
11754099 |
2002 |
3 |
Solid-phase minisequencing test reveals Asp187----Asn (G654----A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis.
57
6
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Paunio T...Peltonen L
|
1315718 |
1992 |
4 |
Gelsolin gene mutation--at codon 187--in familial amyloidosis, Finnish: DNA-diagnostic assay.
57
6
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Haltia M...Frangione B
|
1311149 |
1992 |
5 |
Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline.
6
57
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Maury CP...Baumann M
|
2153578 |
1990 |
6 |
Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome).
57
6
|
Purcell JJ...Dooley JM
|
6610849 |
1983 |
7 |
Three forms of dominant amyloid neuropathy.
57
6
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Sack GH...McKusick VA
|
6975851 |
1981 |
8 |
Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy.
6
57
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Meretoja J
|
4543600 |
1973 |
9 |
Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV).
61
54
6
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Steiner RD...Benson MD
|
7868127 |
1995 |
10 |
Homozygous familial amyloidosis, Finnish type: demonstration of glomerular gelsolin-derived amyloid and non-amyloid tubular gelsolin.
61
54
57
|
Maury CP
|
8395367 |
1993 |
11 |
Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type.
54
6
61
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Ghiso J...Frangione B
|
2176481 |
1990 |
12 |
Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin.
57
61
54
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Haltia M...Frangione B
|
2162627 |
1990 |
13 |
Haplotype analysis in gelsolin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan.
6
61
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Paunio T...Peltonen L
|
7550233 |
1995 |
14 |
Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF).
57
61
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Kiuru S...Palo J
|
7836945 |
1994 |
15 |
Mutation in gelsolin gene in Finnish hereditary amyloidosis.
6
61
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Levy E...Frangione B
|
2175344 |
1990 |
16 |
Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV.
57
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Akiya S...Nakazato M
|
8684801 |
1996 |
17 |
Inherited amyloid polyneuropathy type IV (gelsolin variant) in a Japanese family.
6
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Sunada Y...Mannen T
|
8388189 |
1993 |
18 |
Familial amyloidosis of the Finnish type (FAF). A clinical study of 30 patients.
57
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Kiuru S
|
1333716 |
1992 |
19 |
Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease.
6
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Maury CP...de la Chapelle A
|
1322360 |
1992 |
20 |
Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II.
6
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Gorevic PD...Frangione B
|
1658654 |
1991 |
21 |
Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families.
6
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Hiltunen T...Peltonen L
|
1652889 |
1991 |
22 |
Clinical and histopathologic studies of two families with lattice corneal dystrophy and familial systemic amyloidosis (Meretoja syndrome).
57
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Starck T...McAdam KP
|
1923356 |
1991 |
23 |
Immunohistochemical localization of amyloid in Finnish hereditary amyloidosis with antibodies to gelsolin peptides.
6
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Maury CP
|
1848334 |
1991 |
24 |
Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.
57
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Maury CP...de la Chapelle A
|
2176164 |
1990 |
25 |
Isolation and characterization of cardiac amyloid in familial amyloid polyneuropathy type IV (Finnish): relation of the amyloid protein to variant gelsolin.
6
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Maury CP...Baumann M
|
2176550 |
1990 |
26 |
Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.
57
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Darras BT...Munsat TL
|
3513049 |
1986 |
27 |
Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.
57
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Boysen G...Trojaborg W
|
228009 |
1979 |
28 |
Partial characterization of amyloid proteins in inherited amyloidosis with lattice corneal dystrophy and in secondary amyloidosis.
57
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Meretoja J...Penttinen R
|
305513 |
1978 |
29 |
[An hereditary syndrome consisting of peripheral polyneuropathy, skin changes and lattice-shaped corneal dystrophy].
57
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Winkelman JE...Ansink BJ
|
4109360 |
1971 |
30 |
Lattice corneal dystrophy. An inherited variety of amyloidosis restricted to the cornea.
57
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Klintworth GK
|
4163628 |
1967 |
31 |
The disintegration of a molecule: the role of gelsolin in FAF, familial amyloidosis (Finnish type).
54
61
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Robinson RC...Burtnick LD
|
11226199 |
2001 |
32 |
Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family.
54
61
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Stewart HS...Black GC
|
10729296 |
2000 |
33 |
Cells of the neuronal lineage play a major role in the generation of amyloid precursor fragments in gelsolin-related amyloidosis.
54
61
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Paunio T...Peltonen L
|
9632693 |
1998 |
34 |
Apolipoprotein E increases the fibrillogenic potential of synthetic peptides derived from Alzheimer's, gelsolin and AA amyloids.
61
54
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Soto C...Baumann M
|
7672107 |
1995 |
35 |
Immunohistochemical analysis of lattice corneal dystrophies types I and II.
54
61
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Kivela T...Haltia M
|
8110676 |
1993 |
36 |
Variant plasma gelsolin responsible for familial amyloidosis (Finnish type) has defective actin severing activity.
61
54
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Weeds AG...Maury CP
|
8243656 |
1993 |
37 |
Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187.
54
61
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de la Chapelle A...Kere J
|
1338910 |
1992 |
38 |
Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein.
54
61
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Haltia M...Frangione B
|
2157434 |
1990 |
39 |
The role of gelsolin domain 3 in familial amyloidosis (Finnish type).
61
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Zorgati H...Robinson RC
|
31243148 |
2019 |
40 |
Selective and Sensitive Pull Down of Amyloid Fibrils Produced in Vitro and in Vivo by the Use of Pentameric-Thiophene-Coupled Resins.
61
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Wreden AB...Palhano FL
|
29762014 |
2018 |
41 |
Non-Invasive Imaging of Amyloid Deposits in a Mouse Model of AGel Using 99mTc-Modified Nanobodies and SPECT/CT.
61
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Verhelle A...Gettemans J
|
27130233 |
2016 |
42 |
Penetrating keratoplasty for corneal amyloidosis in familial amyloidosis, Finnish type.
61
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Mattila JS...Holopainen JM
|
25444639 |
2015 |
43 |
Ca2+ binding by domain 2 plays a critical role in the activation and stabilization of gelsolin.
61
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Nag S...Robinson RC
|
19666512 |
2009 |
44 |
Corneal melt in lattice corneal dystrophy type II after cataract surgery.
61
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Papathanassiou M...Vergados I
|
19101443 |
2009 |
45 |
Gelsolin-related familial amyloidosis, Finnish type, in a Portuguese family: clinical and neurophysiological studies.
61
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Conceicao I...Saraiva MJ
|
14639586 |
2003 |
46 |
Loss of a metal-binding site in gelsolin leads to familial amyloidosis-Finnish type.
61
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Kazmirski SL...Fersht AR
|
11753432 |
2002 |
47 |
Corneal morphology and sensitivity in lattice dystrophy type II (familial amyloidosis, Finnish type).
61
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Rosenberg ME...Vesaluoma MH
|
11222521 |
2001 |
48 |
Elucidating the mechanism of familial amyloidosis- Finnish type: NMR studies of human gelsolin domain 2.
61
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Kazmirski SL...Fersht AR
|
10995458 |
2000 |
49 |
Equilibria and kinetics of folding of gelsolin domain 2 and mutants involved in familial amyloidosis-Finnish type.
61
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Isaacson RL...Fersht AR
|
10500162 |
1999 |
50 |
Gelsolin-related spinal and cerebral amyloid angiopathy.
61
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Kiuru S...Haltia M
|
10072044 |
1999 |