Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments

European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force—Second revision

(2021) Peter Y. K. Van den Bergh et al.   EUROPEAN JOURNAL OF NEUROLOGY

Multidisciplinary Approaches for Transthyretin Amyloidosis

(2021) Haruki Koike et al.   Cardiology and Therapy

Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy

(2020) David Adams et al.   JOURNAL OF NEUROLOGY

CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer

(2020) Paco Derouault et al.   PLoS Computational Biology

Screening for genetic mutations in patients with neuropathy without definite etiology is useful

(2020) Braden Vogt et al.   JOURNAL OF NEUROLOGY

Genetic spectrum of Charcot–Marie–Tooth disease associated with myelin protein zero gene variants in Japan

(2020) Takaki Taniguchi et al.   CLINICAL GENETICS

Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data

(2019) Carmen Lahuerta Pueyo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Estimating the global prevalence of transthyretin familial amyloid polyneuropathy

(2018) Hartmut H. Schmidt et al.   MUSCLE & NERVE

Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis

(2018) David Adams et al.   NEW ENGLAND JOURNAL OF MEDICINE

Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm

(2018) Yoshiki Sekijima et al.   Orphanet Journal of Rare Diseases

Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan

(2018) Akiko Yoshimura et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy “in disguise”

(2018) Marina Grandis et al.   Orphanet Journal of Rare Diseases

Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study

(2017) Masahiro Ando et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Carpal tunnel syndrome in inherited neuropathies: A retrospective survey

(2017) Francis B. Panosyan et al.   MUSCLE & NERVE

Mutations inMMEcause an autosomal-recessive Charcot-Marie-Tooth disease type 2

(2016) Yujiro Higuchi et al.   ANNALS OF NEUROLOGY

First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy

(2016) David Adams et al.   CURRENT OPINION IN NEUROLOGY

Asp58Ala is the Predominant Mutation of theTTRGene in Korean Patients with Hereditary Transthyretin-Related Amyloidosis

(2015) Mi-Ae Jang et al.   ANNALS OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs

(2015) Akihiro Hashiguchi et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

A Family with Distal Hereditary Motor Neuropathy and a K141Q Mutation of Small Heat Shock Protein HSPB1

(2014) Kengo Maeda et al.   INTERNAL MEDICINE

Guideline of transthyretin-related hereditary amyloidosis for clinicians

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

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

Diagnosis of sporadic transthyretin Val30Met familial amyloid polyneuropathy: a practical analysis

(2011) Haruki Koike et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

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

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

Amyloid neuropathy mimicking chronic inflammatory demyelinating polyneuropathy

(2011) Stephane Mathis et al.   MUSCLE & NERVE

Epidemiology of familial amyloid polyneuropathy in Japan: Identification of a novel endemic focus

(2008) Yuko Kato-Motozaki et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES