Orphanet Journal of Rare Diseases

Title Publication Date Language Citations
Cardiac involvement and clinical follow up of patients with hereditary transthyretin related amyloidosis associated with Glu89Gln mutation2015/01/01English
Coexistence of degenerative aortic stenosis and wild type transthyretin-related cardiac amyloidosis: a potentially dangerous association that can be non-invasively identified2015/01/01English
Identification of a new variant of TTR involved in familial amyloid cardiomyopathy (FAC) in Brazil: from the patient to the protein2015/01/01English
ATTR Amyloidosis: development of cardiac symptoms during 6 years of follow up in different ATTR-variants2015/01/01English
Wild-type transthyretin amyloidosis in female patients2015/01/01English
MR-Neurography of the sural nerve in patients with hereditary amyloidosis2015/01/01English
Patient experience with hereditary and senile systemic amyloidoses: a survey from the Amyloidosis Research Consortium2015/01/01English
The hidden story behind gender differences in familial amyloid polyneuropathy (FAP) ATTRV30M2015/01/01English
Neuroprotection of Anakinra on peripheral nerve neurodegeneration in single and combination protocols with TTR siRNA in a transgenic mouse model for human V30M transthyretin2015/01/01English
TTR sequencing should be considered ahead of hypertrophic cardiomyopathy in Afro-Americans2015/01/01English
Multi-modality imaging in cardiac ATTR amyloidosis: agreement between echocardiography, MRI and DPD-scintigraphy2015/01/01English
Reviewer acknowledgement 20142014/01/01English
Developing a national plan for rare diseases in Germany through concerted action: the national action league for people with rare diseases2012/01/01English
Behcet¿s disease in Budd-Chiari syndrome2014/01/01English
HTA on neonatal screening for rare metabolic disorders faced misconceptions and blurred objectivity2012/01/01English
Can the cross-borders directive improve the quality of genetic testing in the future?2012/01/01English
The second French plan for rare diseases 2011-20142012/01/01English
Value and specificity of rare diseases business model-is the pursuit of this societal priority sustainable?2012/01/01English
Transition from childhood to adulthood in Duchenne muscular dystrophy (DMD)2012/01/01English
The involvement of patients in developing clinical guidelines2012/01/01English
Climb’s black and ethnic minority information project (BEMIS)2012/01/01English
Patient perspective on CT Involvement: are they listening to my needs?2012/01/01English
Mechanism of coordinated access to orphan drugs2012/01/01English
EPIRARE survey on activities and needs of rare disease registries in the European Union2012/01/01English
Professional clinical guidelines for rare diseases: methodology2012/01/01English
The psychological processes involved in patient empowerment2012/01/01English
The political empowerment of rare disease patient advocates both at EU and national level2012/01/01English
Developing a cure for Black Bone Disease2012/01/01English
Finding new medicines to fight CF: multiple steps of a success story2012/01/01English
From rationing to rationality: an n-of-one trial service for off-label medicines for rare (neuromuscular) diseases2012/01/01English