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
Dynamic Reconstruction Using Bilateral Lengthening Temporalis Myoplasty for Facial Palsies in Patients with Hereditary Skin Laxity.
Hirata A et al.
Plastic and Reconstructive Surgery. Global Open, 2024
Update on the Corneal Dystrophies-Genetic Testing and Therapy.
Weiss JS et al.
Cornea, 2022
The first Chinese renal gelsolin amyloidosis with the p.Asp174Asn mutation in the GSN gene: Nephrology picture.
Zhang R et al.
Journal of Nephrology, 2021
A novel GSN variant outside the G2 calcium-binding domain associated with Amyloidosis of the Finnish type.
Mullany S et al.
Human Mutation, 2021
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
Familial progressive bilateral facial paralysis in Finnish type hereditary amyloidosis.
de Souza PVS et al.
Practical Neurology, 2017
Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models.
Megaw R et al.
Nature Communications, 2017
AAV9 delivered bispecific nanobody attenuates amyloid burden in the gelsolin amyloidosis mouse model.
Verhelle A et al.
Human Molecular Genetics, 2017
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
Non-Invasive Imaging of Amyloid Deposits in a Mouse Model of AGel Using 99mTc-Modified Nanobodies and SPECT/CT.
Verhelle A et al.
Molecular Imaging and Biology, 2016
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
An ER-directed gelsolin nanobody targets the first step in amyloid formation in a gelsolin amyloidosis mouse model.
Van Overbeke W et al.
Human Molecular Genetics, 2015
Clinical characteristics and SAP scintigraphic findings in 10 patients with AGel amyloidosis.
Rowczenio D et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2014
Chaperone nanobodies protect gelsolin against MT1-MMP degradation and alleviate amyloid burden in the gelsolin amyloidosis mouse model.
Van Overbeke W et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2014
TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophies.
Gonzalez-Rodriguez J et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2014
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
Hereditary gelsolin amyloidosis: a new Japanese case with cutis laxa as a diagnostic clue.
Asahina A et al.
Acta Dermato-venereologica, 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
Ardalan-Shoja-Kiuru syndrome--hereditary gelsolin amyloidosis plus retinitis pigmentosa.
Shokouhi G et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2008
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
Familial amyloid polyneuropathy (Finnish type) in a Japanese family: Clinical features and immunocytochemical studies.
Ikeda M et al.
Journal of the Neurological Sciences, 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