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

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

Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1families

(2014) Annika Winbo et al.   BMC Cardiovascular Disorders

Efficacy of diflunisal on autonomic dysfunction of late-onset familial amyloid polyneuropathy (TTR Val30Met) in a Japanese endemic area

(2014) Ryoichi Takahashi et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

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

Familial Amyloid Polyneuropathy

(2013) Ana Paula Barreiros et al.   DIGESTIVE DISEASES

Impacts of Variation in the Human Genome on Gene Regulation

(2013) Rajini R. Haraksingh et al.   JOURNAL OF MOLECULAR BIOLOGY

Genetic defects in Indian Wilson disease patients and genotype–phenotype correlation

(2013) Shashwata Mukherjee et al.   PARKINSONISM & RELATED DISORDERS

Genotypic and phenotypic correlation in an Italian population of hereditary amyloidosis TTR-related (HA-TTR): clinical and neurophysiological aids to diagnosis and some reflections on misdiagnosis

(2012) Fabrizio Salvi 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

Amyloid neuropathies

(2012) David Adams et al.   CURRENT OPINION IN NEUROLOGY

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

(2012) Marco Luigetti et al.   NEUROLOGICAL SCIENCES

Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients

(2011) Manuel Cappellari et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Familial amyloid polyneuropathy

(2011) Violaine Planté-Bordeneuve et al.   LANCET NEUROLOGY

Synergistic Post-Transcriptional Regulation of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) by miR-101 and miR-494 Specific Binding

(2011) Francesca Megiorni et al.   PLoS One

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

Founder effect and estimation of the age of the Progranulin Thr272fs mutation in 14 Italian pedigrees with frontotemporal lobar degeneration

(2010) Barbara Borroni et al.   NEUROBIOLOGY OF AGING

Haplotype Analysis Reveals a Possible Founder Effect of RET Mutation R114H for Hirschsprung's Disease in the Chinese Population

(2010) Belinda K. Cornes et al.   PLoS One

Transthyretin asn90 variant: Amyloidogenic or non-amyloidogenic role

(2009) A. Bersano et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met

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

−459C>T point mutation in 5′ non-coding region of humanGJB1gene is linked to X-linked Charcot-Marie-Tooth neuropathy

(2009) Miaoxin Li et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population

(2008) Urban Hellman et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

On the Origin of the Transthyretin Val30Met Familial Amyloid Polyneuropathy

(2008) C. Zaros et al.   ANNALS OF HUMAN GENETICS

Amyloid fibril composition is related to the phenotype of hereditary transthyretin V30M amyloidosis

(2008) E Ihse et al.   JOURNAL OF PATHOLOGY