Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy

Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis

(2016) Laura Obici et al.   CURRENT OPINION IN NEUROLOGY

“Red-flag” symptom clusters in transthyretin familial amyloid polyneuropathy

(2016) Isabel Conceição et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

(2015) Jeffrey R. Botkin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France

(2015) Louise-Laure Mariani et al.   ANNALS OF NEUROLOGY

Ethical considerations of population screening for late-onset genetic disease

(2015) K. Golden-Grant et al.   CLINICAL GENETICS

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

Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments

(2015) Yoshiki Sekijima   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Rapid progression of familial amyloidotic polyneuropathy

(2015) David Adams et al.   NEUROLOGY

Liver Transplantation for Hereditary Transthyretin Amyloidosis

(2015) Bo-Göran Ericzon et al.   TRANSPLANTATION

Repurposing Diflunisal for Familial Amyloid Polyneuropathy

(2015) John L. Berk et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Addressing the Ethical Challenges in Genetic Testing and Sequencing of Children

(2014) Ellen Wright Clayton et al.   AMERICAN JOURNAL OF BIOETHICS

Tafamidis: A Review of Its Use in Familial Amyloid Polyneuropathy

(2014) Lesley J. Scott   DRUGS

An overview of drugs currently under investigation for the treatment of transthyretin-related hereditary amyloidosis

(2014) Laura Obici et al.   EXPERT OPINION ON INVESTIGATIONAL DRUGS

Current and future treatment of amyloid neuropathies

(2014) David Adams et al.   Expert Review of Neurotherapeutics

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(2014) Lavínia Schuler-Faccini et al.   GENETICS AND MOLECULAR BIOLOGY

Online Registry for Mutations in Hereditary Amyloidosis Including Nomenclature Recommendations

(2014) Dorota M. Rowczenio et al.   HUMAN MUTATION

Update in the diagnosis and management of transthyretin familial amyloid polyneuropathy

(2014) Violaine Plante-Bordeneuve   JOURNAL OF NEUROLOGY

Norfolk QOL-DN: validation of a patient reported outcome measure in transthyretin familial amyloid polyneuropathy

(2014) Etta J. Vinik et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Awareness and motives for use and non-use of preimplantation genetic diagnosis in familial amyloid polyneuropathy mutation carriers

(2014) Kátia Valdrez et al.   PRENATAL DIAGNOSIS

Technical report: ethical and policy issues in genetic testing and screening of children

(2013) Laine Friedman Ross et al.   GENETICS IN MEDICINE

What Counts as Effective Genetic Counselling for Presymptomatic Testing in Late-Onset Disorders? A Study of the Consultand’s Perspective

(2013) Lídia Guimarães et al.   Journal of Genetic Counseling

Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan

(2013) Keiko Tanaka et al.   JOURNAL OF HUMAN GENETICS

Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathy

(2013) Teresa Coelho et al.   JOURNAL OF NEUROLOGY

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

Ethical and Policy Issues in Genetic Testing and Screening of Children

(2013) et al.   PEDIATRICS

Recommendations for the predictive genetic test in Huntington's disease

(2012) R MacLeod et al.   CLINICAL GENETICS

Quality in genetic counselling for presymptomatic testing — clinical guidelines for practice across the range of genetic conditions

(2012) Heather Skirton et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas

(2012) Haruki Koike et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Tafamidis for transthyretin familial amyloid polyneuropathy: A randomized, controlled trial

(2012) T. Coelho et al.   NEUROLOGY

Recent advances in the treatment of familial amyloid polyneuropathy

(2012) David Adams   Therapeutic Advances in Neurological Disorders

Usefulness of labial salivary gland biopsy in familial amyloid polyneuropathy Portuguese type

(2010) Barbas Do Amaral et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Penetrance estimation of TTR familial amyloid polyneuropathy (type I) in Brazilian families

(2009) M. A. C. Saporta et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

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

PEL: an unbiased method for estimating age-dependent genetic disease risk from pedigree data unselected for family history

(2008) F. Alarcon et al.   GENETIC EPIDEMIOLOGY

Psychosocial impact of presymptomatic genetic testing for transthyretin amyloidotic polyneuropathy

(2008) Anita Graceffa et al.   NEUROMUSCULAR DISORDERS