Articles
Page 59 of 82
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Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P65
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Specific ophtalmologic changes in late onset familial amyloid polyneuropathy (FAP) portuguese patients
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P63 -
Cardiomyopathy and peripheral polyneuropathy severity in patients with Glu89Gln mutation at the time of diagnosis
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P59 -
Mass spectrometry analysis of transthyretin (TTR) post-translational modifications (PTMs) in hereditary ATTR: a case-control Spanish experience
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P53 -
Parenteral nutrition improves nutritional status, autonomic symptoms and QoL in patients with TTR-FAP
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P52 -
Diagnostic value of fat aspirates for amyloidosis in 950 patients
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P50 -
Posterior longitudinal strain by speckle tracking echocardiography, marker of cardiac amyloidosis?
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P48 -
MALDI spectrometry for salivary samples analysis : a new tool for TTR amyloidosis diagnosis
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P46 -
Cardiac extracellular volume quantified with T1 mapping techniques reflects degree of cardiac and neurological involvement in Hereditary Transthyretin Amyloidosis
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P44 -
The diagnostic accuracy of Sudoscan in TTR-FAP
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P42 -
MR-Neurography of the sural nerve in patients with hereditary amyloidosis
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P40 -
[18F]FDDNP performed better than [18F] Florbetapir to distinguish transthyretin cardiac amyloidosis (TTR-CA) patients from healthy controls: an ex vivo study
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P38 -
Delayed small bowel octreotide response in patients with hereditary transthyretin amyloidosis
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P36 -
TTR sequencing should be considered ahead of hypertrophic cardiomyopathy in Afro-Americans
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P35 -
Usefulness of combining electrocardiogram and echocardiography findings and brain natriuretic peptide in early detection of cardiac amyloidosis in subjects with transthyretin gene mutation
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P34 -
Prevalence, risk factors and correlation with cardiac involvement of carpal tunnel syndrome in amyloidosis
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P32 -
Clinical and laboratory test in patients with familial amyloid polyneuropathy: differences between symptomatic patients and asymptomatic carriers
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P30 -
Transthyretin familial amyloid polyneuropathy impact on health-related quality of life
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O28 -
Five novel TTR variants: associated phenotypes and structural consequences
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P28 -
Quality of life in ATTR amyloidosis
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O26 -
Do we need to demonstrate amyloid in tissue for hereditary ATTR amyloidosis ?
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I25 -
Therapeutic education programme in TTR-FAP
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I24 -
Diflunisal in late-onset FAP patients with moderate to severe neuropathy
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O24 -
Val50Ala variant of familial amyloid neuropathy – a rare case in the Czech Republic
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P24 -
Treatment of gastrointestinal complication in transthyretin amyloidosis. A single centre’s experience
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I23 -
Minimal assessment of the index case: the point of view of the cardiologist
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I21 -
TTR amyloidosis: a scientific journey since Andrade
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I19 -
ATTR Amyloidosis: development of cardiac symptoms during 6 years of follow up in different ATTR-variants
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O18 -
Multi-modality imaging in cardiac ATTR amyloidosis: agreement between echocardiography, MRI and DPD-scintigraphy
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O17 -
DPD Scintigraphy for diagnosis of amyloidosis in 1191 patients– a single centre experience
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O16 -
Biopsy experience in a FAP endemic area
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I15 -
Neuroprotection of Anakinra on peripheral nerve neurodegeneration in single and combination protocols with TTR siRNA in a transgenic mouse model for human V30M transthyretin
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P13 -
Do we need to demonstrate Amyloid in tissue?
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I13 -
The landscape of treatment of chronic kidney disease in hereditary ATTR amyloidosis
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I12 -
Vasculopathy in transthyretin Val30Met familial amyloid polyneuropathy
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O11 -
Tafamidis reduces disease progression in patients with transthyretin familial amyloid polyneuropathy: supportive post-hoc analyses of a pivotal trial
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P11 -
Minimal assessment of index cases: the point of view of the neurologist
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I11 -
SOM0226, a repositioned compound for the treatment of TTR amyloidosis
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P9 -
Wild-type transthyretin amyloidosis in female patients
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O9 -
Which assessment for the carriers ? The point of view of the neurologist
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I7 -
Treatment of transthyretin (TTR) amyloid cardiomyopathy with an antisense oligonucleotide inhibitor of TTR synthesis
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P7 -
Preimplantation genetic diagnosis for TTR-FAP in Portugal
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I5 -
Tissue remodeling after RNAi-mediated knockdown of TTR in a Familial Amyloidotic Polyneuropathy mouse model
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P5 -
Clinical, epidemiological, genetic, and electrophysiological characteristics of transthyretin familial amyloid polyneuropathies in Israel
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O5 -
Which assessment for the carriers: the cardiac view
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I3 -
The role of complement in ATTR amyloidosis: a new therapeutic avenue?
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P3 -
Unravelling the epidemiology of late-onset and asymptomatic carriers of FAP ATTR V30M in a Portuguese population
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O3 -
Symptomatic therapy in ATTR amyloidosis: pain killers in TTR-FAP
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I1 -
Novel conformation-specific monoclonal antibodies against amyloidogenic forms of transthyretin
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P1 -
TTR-FAP: a single-center experience in Sicily, an Italian endemic area
Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O1
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- ISSN: 1750-1172 (electronic)