Associated Papers
Renal gelsolin amyloidosis as a rare cause of proteinuria: a case report and literature review.
Wang M et al.
Bmc Nephrology, 2025
A novel heterozygous mutation in the gelsolin gene causes Finnish gelsolin amyloidosis associated with nephropathy and thrombotic microangiopathy.
Liang H et al.
Archives of Medical Science : Ams, 2025
Identification of a novel premature stop codon and other recurrent variations in the porcine gelsolin gene.
Yan W et al.
Gene, 2020
Renal amyloidosis: an update on diagnosis and pathogenesis.
Gupta N et al.
Protoplasma, 2020
Amyloidosis and Ocular Involvement: an Overview.
Dammacco R et al.
Seminars in Ophthalmology, 2020
The Gelsolin Pathogenic D187N Mutant Exhibits Altered Conformational Stability and Forms Amyloidogenic Oligomers.
Srivastava A et al.
Biochemistry, 2018
Atypical Presentation of Gelsolin Amyloidosis in a Man of African Descent with a Novel Mutation in the Gelsolin Gene.
Oregel KZ et al.
The American Journal of Case Reports, 2018
Clinical, biopsy, and mass spectrometry findings of renal gelsolin amyloidosis.
Sethi S et al.
Kidney International, 2017
Meretoja's Syndrome: Lattice Corneal Dystrophy, Gelsolin Type.
Casal I et al.
Case Reports in Medicine, 2017
Progressive cranial nerve involvement and grading of facial paralysis in gelsolin amyloidosis.
Pihlamaa T et al.
Muscle & Nerve, 2016
Gelsolin Familial Amyloidosis Peripheral Neuropathy in Canada: A Case Report.
Alabdali M et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2015
Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred.
Efebera YA et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2014
Subtle neuropsychiatric and neurocognitive changes in hereditary gelsolin amyloidosis (AGel amyloidosis).
Kantanen M et al.
Peerj, 2014
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.
Bannykh SI et al.
Ultrastructural Pathology, 2013
Pituicytoma with gelsolin amyloid deposition.
Ida CM et al.
Endocrine Pathology, 2013
Hereditary renal amyloidosis caused by a heterozygous G654A gelsolin mutation: a report of two cases.
Yamanaka S et al.
Clinical Kidney Journal, 2013
Xerostomia in hereditary gelsolin amyloidosis.
Juusela P et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2013
Hereditary gelsolin amyloidosis.
Kiuru-Enari S et al.
Handbook of Clinical Neurology, 2013
Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type.
Taira M et al.
Neurogenetics, 2012
Familial amyloidotic polyneuropathy type IV--gelsolin amyloidosis.
Pihlamaa T et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2012
Familial amyloid polyneuropathy.
Planté-Bordeneuve V et al.
The Lancet. Neurology, 2011
Cognitive impairment of vascular origin: neuropathology of cognitive impairment of vascular origin.
Ferrer I
Journal of the Neurological Sciences, 2010
Familial amyloid polyneuropathy (Finnish type) presenting multiple cranial nerve deficits with carpal tunnel syndrome and orthostatic hypotension.
Makioka K et al.
Neurological Research, 2010
Hereditary amyloidosis of the Finnish type in a German family: clinical and electrophysiological presentation.
Lüttmann RJ et al.
Muscle & Nerve, 2010
[Hereditary gelsolin amyloidosis--40 years of Meretoja disease].
Kiuru-Enari S et al.
Duodecim; Laaketieteellinen Aikakauskirja, 2010
Retraction. Withdrawn: Severe ataxia with neuropathy in hereditary gelsolin amyloidosis.
Unknown Author
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2009
Hereditary gelsolin amyloidosis mimicking Sjögren's syndrome.
Juusela P et al.
Clinical Rheumatology, 2009
Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies.
Revesz T et al.
Acta Neuropathologica, 2009
Severe ataxia with neuropathy in hereditary gelsolin amyloidosis.
Tanskanen M et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2009
Outcome of renal transplant in hereditary gelsolin amyloidosis.
Shoja MM et al.
The American Journal of the Medical Sciences, 2009
Severe ataxia with neuropathy in hereditary gelsolin amyloidosis: a case report.
Tanskanen M et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2007
Amyloidosis-related nephrotic syndrome due to a G654A gelsolin mutation: the first report from the Middle East.
Ardalan MR et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2007
Familial systemic amyloidosis associated with bilateral sensorineural hearing loss and bilateral facial palsies.
Hornigold R et al.
The Journal of Laryngology and Otology, 2006
Cutis laxa in hereditary gelsolin amyloidosis.
Kiuru-Enari S et al.
The British Journal of Dermatology, 2005
Gelsolin-related familial amyloidosis, Finnish type, in a Portuguese family: clinical and neurophysiological studies.
Conceição I et al.
Muscle & Nerve, 2003
Cerebral amyloid angiopathies: a pathologic, biochemical, and genetic view.
Revesz T et al.
Journal of Neuropathology and Experimental Neurology, 2003
Fibrillogenesis in gelsolin-related familial amyloidosis.
Maury CP et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2003
Sporadic and familial cerebral amyloid angiopathies.
Revesz T et al.
Brain Pathology (zurich, Switzerland), 2002
Neuromuscular pathology in hereditary gelsolin amyloidosis.
Kiuru-Enari S et al.
Journal of Neuropathology and Experimental Neurology, 2002
Genetic mechanisms of hereditary hemostasis disorders.
Patrushev LI
Biochemistry. Biokhimiia, 2002
Altered platelet shape change in hereditary gelsolin Asp187Asn-related amyloidosis.
Kiuru S et al.
Thrombosis and Haemostasis, 2000
Obstructive sleep apnoea syndrome in hereditary gelsolin-related amyloidosis.
Kiuru S et al.
Journal of Sleep Research, 1999
Gelsolin-related spinal and cerebral amyloid angiopathy.
Kiuru S et al.
Annals of Neurology, 1999
Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide.
Kiuru S
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 1998
Identification of the circulating amyloid precursor and other gelsolin metabolites in patients with G654A mutation in the gelsolin gene (Finnish familial amyloidosis): pathogenetic and diagnostic implications.
Maury CP et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 1997
Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV).
Steiner RD et al.
Human Genetics, 1995
Haplotype analysis in gelsolin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan.
Paunio T et al.
Human Mutation, 1995
Neuropathy in familial amyloidosis , Finnish type (FAF): electrophysiological studies.
Kiuru S et al.
Muscle & Nerve, 1994
Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187.
de la Chapelle A et al.
Nature Genetics, 1992
Danish type gelsolin-related amyloidosis in a Brazilian family: case reports.
Solari HP et al.
Arquivos Brasileiros De Oftalmologia, 0