Detalhe da pesquisa
1.
Clinical and Prognostic Implications of Right Ventricular Uptake on Bone Scintigraphy in Transthyretin Amyloid Cardiomyopathy.
Circulation
; 149(15): 1157-1168, 2024 Apr 09.
Artigo
Inglês
| MEDLINE | ID: mdl-38328945
2.
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
N Engl J Med
; 383(27): 2628-2638, 2020 12 31.
Artigo
Inglês
| MEDLINE | ID: mdl-33108101
3.
Focal Segmental Glomerulosclerosis Complicating Therapy With Inotersen, an Antisense Oligonucleotide Inhibitor: A Case Report.
Am J Kidney Dis
; 81(5): 606-610, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36228827
4.
Characteristics and natural history of early-stage cardiac transthyretin amyloidosis.
Eur Heart J
; 43(27): 2622-2632, 2022 07 14.
Artigo
Inglês
| MEDLINE | ID: mdl-35608040
5.
Clinical ApoA-IV amyloid is associated with fibrillogenic signal sequence.
J Pathol
; 255(3): 311-318, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34331462
6.
Antibody-Associated Reversal of ATTR Amyloidosis-Related Cardiomyopathy.
N Engl J Med
; 388(23): 2199-2201, 2023 Jun 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37285532
7.
Renal transplant outcomes in amyloidosis.
Nephrol Dial Transplant
; 36(2): 355-365, 2021 01 25.
Artigo
Inglês
| MEDLINE | ID: mdl-33439995
8.
Echocardiographic phenotype and prognosis in transthyretin cardiac amyloidosis.
Eur Heart J
; 41(14): 1439-1447, 2020 04 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31950987
9.
Natural History, Quality of Life, and Outcome in Cardiac Transthyretin Amyloidosis.
Circulation
; 140(1): 16-26, 2019 07 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31109193
10.
ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
Clin Chem
; 66(4): 525-536, 2020 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32176780
11.
British kindred with dominant FMF associated with high incidence of AA amyloidosis caused by novel MEFV variant, and a review of the literature.
Rheumatology (Oxford)
; 59(3): 554-558, 2020 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31384939
12.
Molecular genetic investigation, clinical features, and response to treatment in 21 patients with Schnitzler syndrome.
Blood
; 131(9): 974-981, 2018 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29284595
13.
Diagnostic amyloid proteomics: experience of the UK National Amyloidosis Centre.
Clin Chem Lab Med
; 58(6): 948-957, 2020 06 25.
Artigo
Inglês
| MEDLINE | ID: mdl-32069225
14.
Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland - genetic and clinical presentation.
Neurol Neurochir Pol
; 54(6): 552-560, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33373035
15.
Analysis of the TTR gene in the investigation of amyloidosis: A 25-year single UK center experience.
Hum Mutat
; 40(1): 90-96, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30328212
16.
Classification criteria for autoinflammatory recurrent fevers.
Ann Rheum Dis
; 78(8): 1025-1032, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31018962
17.
New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).
J Med Genet
; 55(8): 530-537, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29599418
18.
A new staging system for cardiac transthyretin amyloidosis.
Eur Heart J
; 39(30): 2799-2806, 2018 08 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29048471
19.
Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review.
Crit Rev Clin Lab Sci
; 55(6): 432-442, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30035647
20.
Diagnosis, pathogenesis and outcome in leucocyte chemotactic factor 2 (ALECT2) amyloidosis.
Nephrol Dial Transplant
; 33(2): 241-247, 2018 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29401357