Literature DB >> 4313418

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

J Meretoja.   

Abstract

Entities:  

Mesh：

Year:  1969        PMID： 4313418

Source DB:  PubMed          Journal:  Ann Clin Res        ISSN： 0003-4762


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  58 in total

1.  Equilibria and kinetics of folding of gelsolin domain 2 and mutants involved in familial amyloidosis-Finnish type.

Authors:  R L Isaacson; A G Weeds; A R Fersht
Journal:  Proc Natl Acad Sci U S A       Date:  1999-09-28       Impact factor: 11.205

Review 2.  The Finnish Disease Heritage III: the individual diseases.

Authors:  Reijo Norio
Journal:  Hum Genet       Date:  2003-03-08       Impact factor: 4.132

3.  Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.

Authors:  G Boysen; G Galassi; Z Kamieniecka; J Schlaeger; W Trojaborg
Journal:  J Neurol Neurosurg Psychiatry       Date:  1979-11       Impact factor: 10.154

Review 4.  [Cutaneous amyloidosis].

Authors:  S Schreml; R-M Szeimies; M Landthaler; P Babilas
Journal:  Hautarzt       Date:  2011-01       Impact factor: 0.751

Review 5.  Inherited amyloidosis.

Authors:  M D Benson
Journal:  J Med Genet       Date:  1991-02       Impact factor: 6.318

6.  Relation of gelsolin amyloidosis and periodontal health.

Authors:  Pirjo L Juusela; Rutger G Persson; Anja R Nieminen; Sari M Kiuru-Enari; Veli-Jukka Uitto
Journal:  Clin Oral Investig       Date:  2014-05-23       Impact factor: 3.573

7.  Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin.

Authors:  M Haltia; J Ghiso; F Prelli; G Gallo; S Kiuru; H Somer; J Palo; B Frangione
Journal:  Am J Pathol       Date:  1990-06       Impact factor: 4.307

8.  Formation of gelsolin amyloid fibrils in the rough endoplasmic reticulum of skeletal muscle in the gelsolin mouse model of inclusion body myositis: comparative analysis to human sporadic inclusion body myositis.

Authors:  Sergei I Bannykh; William E Balch; Jeffery W Kelly; Lesley J Page; G Diane Shelton
Journal:  Ultrastruct Pathol       Date:  2013-10       Impact factor: 1.094

9.  Gelsolin-related amyloidosis. Identification of the amyloid protein in Finnish hereditary amyloidosis as a fragment of variant gelsolin.

Authors:  C P Maury
Journal:  J Clin Invest       Date:  1991-04       Impact factor: 14.808

Review 10.  Corneal dystrophies.

Authors:  Gordon K Klintworth
Journal:  Orphanet J Rare Dis       Date:  2009-02-23       Impact factor: 4.123
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