Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis

Haplotype analysis of non-HLA immunogenetic loci in Turkish and worldwide populations

(2016) Sefayet Karaca et al.   GENE

Looking beyond the genes: the role of non-coding variants in human disease

(2016) Malte Spielmann et al.   HUMAN MOLECULAR GENETICS

The Val142Ile transthyretin cardiac amyloidosis

(2016) Francesco Cappelli et al.   Journal of Cardiovascular Medicine

Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

(2016) A. Cortese et al.   JOURNAL OF NEUROLOGY

Integrative approaches for large-scale transcriptome-wide association studies

(2016) Alexander Gusev et al.   NATURE GENETICS

Ophthalmological manifestations in hereditary transthyretin (ATTR V30M) carriers: a review of 513 cases

(2015) João Melo Beirão et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M)

(2015) Diana Santos et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Schwann cells contribute to neurodegeneration in transthyretin amyloidosis

(2015) Tatsufumi Murakami et al.   JOURNAL OF NEUROCHEMISTRY

Dissecting ancestry genomic background in substance dependence genome-wide association studies

(2015) Renato Polimanti et al.   PHARMACOGENOMICS

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

In silicoanalysis ofTTRgene (coding and non-coding regions, and interactive network) and its implications in transthyretin-related amyloidosis

(2014) Renato Polimanti et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Most recent common ancestor ofTTRVal30Met mutation in Italian population and its potential role in genotype-phenotype correlation

(2014) Andrea Iorio et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Impact of liver transplantation on the natural history of oculopathy in Portuguese patients with transthyretin (V30M) amyloidosis

(2014) João Melo Beirão et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Oculoleptomeningeal Amyloidosis associated with transthyretin Leu12Pro in an African patient

(2014) P. McColgan et al.   JOURNAL OF NEUROLOGY

Functional variation of thetransthyretingene among human populations and its correlation with amyloidosis phenotypes

(2013) Renato Polimanti et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M

(2013) C. Lemos et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Guideline of transthyretin-related hereditary amyloidosis for clinicians

(2013) Yukio Ando et al.   Orphanet Journal of Rare Diseases

The first Caucasian patient with p.Val122Ile mutated-transthyretin cardiac amyloidosis treated with isolated heart transplantation

(2012) Enrico Ammirati et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Regional differences and similarities of FAP in Sweden

(2012) Urban Hellman et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Clinical features of TTR-FAP in Portugal

(2012) Isabel Conceição   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

THAOS – The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis

(2012) Teresa Coelho et al.   CURRENT MEDICAL RESEARCH AND OPINION

Diagnosis and Therapeutic Approaches to Transthyretin Amyloidosis

(2012) Y. Ando et al.   CURRENT MEDICINAL CHEMISTRY

Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective

(2012) C. Rapezzi et al.   EUROPEAN HEART JOURNAL

Transthyretin-related familial amyloidotic polyneuropathy: description of a cohort of patients with Leu64 mutation and late onset

(2012) Massimo Russo et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients

(2012) Marco Luigetti et al.   NEUROLOGICAL SCIENCES

HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants

(2011) L. D. Ward et al.   NUCLEIC ACIDS RESEARCH

TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance?

(2010) Bernard Bonaïti et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Discordant expression of familial amyloid polyneuropathy in monozygotic Brazilian twins

(2009) Mário André da Cunha Saporta et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met

(2009) Efthimios Dardiotis et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES