Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses

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

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

An n-of-one RCT for intravenous immunoglobulin G for inflammation in hereditary neuropathy with liability to pressure palsy (HNPP)

(2015) Charlotte Vrinten et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK

(2015) A S Carr et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2015) Yoshiki Sekijima   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Usefulness of the modified F-ratio for assessmentsof proximal conduction in chronic inflammatory demyelinating polyneuropathy superimposed onCharcot Marie–Tooth disease type 1A

(2014) Kodai Kume et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Genetics of Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): current knowledge and future directions

(2014) Stefan Blum et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated to hereditary neuropathy with liability to pressure palsies (HNPP) and revealed after influenza AH1N1 vaccination

(2013) Gauthier Remiche et al.   ACTA NEUROLOGICA BELGICA

An amyotrophic lateral sclerosis-like syndrome revealing an amyloid polyneuropathy associated with a novel transthyretin mutation

(2013) Pierre Lozeron et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy

(2013) Maike F. Dohrn et al.   JOURNAL OF NEUROLOGY

Ultrasonographic nerve enlargement of the median and ulnar nerves and the cervical nerve roots in patients with demyelinating Charcot–Marie–Tooth disease: distinction from patients with chronic inflammatory demyelinating polyneuropathy

(2013) Takamichi Sugimoto et al.   JOURNAL OF NEUROLOGY

Recurrent central nervous system white matter changes in charcot-Marie-Tooth type X disease

(2013) Jennifer L. Mckinney et al.   MUSCLE & NERVE

Clinical implications of genetic advances in Charcot–Marie–Tooth disease

(2013) Alexander M. Rossor et al.   Nature Reviews Neurology

Rapidly progressive asymmetrical weakness in Charcot–Marie–Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy

(2013) Ellen Cottenie et al.   NEUROMUSCULAR DISORDERS

Regional difference and similarity of familial amyloidosis with polyneuropathy in France

(2012) David Adams et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Mitochondrial neurogastrointestinal encephalomyopathy mimicking chronic inflammatory demyelinating polyradiculoneuropathy

(2012) Camila Pupe et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Amyloid neuropathies

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

A family with IVIg-responsive Charcot–Marie–Tooth disease

(2012) Yasuo Miki et al.   JOURNAL OF NEUROLOGY

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

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

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4

(2011) Garth Nicholson et al.   BRAIN

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy

(2011) Caterina Garone et al.   BRAIN

Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy

(2011) Massimiliano Filosto et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease

(2011) Julie Zyss et al.   JOURNAL OF NEUROLOGY

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

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

Subacute inflammatory demyelinating polyneuropathy disclosed by massive nerve root enhancement in CMT1A

(2011) Anna Mazzeo et al.   MUSCLE & NERVE

Amyloid neuropathy mimicking chronic inflammatory demyelinating polyneuropathy

(2011) Stephane Mathis et al.   MUSCLE & NERVE

Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation

(2011) Sinéad M. Murphy et al.   NEUROMUSCULAR DISORDERS

European Federation of Neurological Societies/Peripheral Nerve Society Guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint task force of the European Federation of Neurological Societies and the Peripher

(2010) P. Y. K. Van den Bergh et al.   EUROPEAN JOURNAL OF NEUROLOGY

Genetic epidemiology of Charcot-Marie-Tooth in the general population

(2010) G. J. Braathen et al.   EUROPEAN JOURNAL OF NEUROLOGY

A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot–Marie–Tooth disease

(2010) Hideya Sakaguchi et al.   JOURNAL OF NEUROLOGY

MRI shows increased sciatic nerve cross sectional area in inherited and inflammatory neuropathies

(2010) C. D. J. Sinclair et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Coexistence of two chronic neuropathies in a young child: Charcot-marie-tooth disease type 1A and chronic inflammatory demyelinating polyneuropathy

(2010) Wilson Marques et al.   MUSCLE & NERVE

Preferred Reporting Items for Systematic Reviews and Meta-Analyses: The PRISMA Statement

(2009) David Moher et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment

(2009) A W Michell et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The phenotype of Charcot–Marie–Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy

(2009) Henry Houlden et al.   NEUROMUSCULAR DISORDERS

Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF

(2009) Wanda Maria Gerding et al.   NEUROMUSCULAR DISORDERS

Charcot-Marie-Tooth (CMT) Disease 1A with Superimposed Inflammatory Polyneuropathy in Children

(2009) A. Desurkar et al.   NEUROPEDIATRICS

Lewis-Sumner Syndrome and Tangier Disease

(2008) Marie Théaudin et al.   ARCHIVES OF NEUROLOGY

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration

(2008) Xuebao Zhang et al.   BRAIN

Severe Guillain–Barré syndrome associated with chromosome 17p11.2-12 duplication

(2007) Christoph Münch et al.   MUSCLE & NERVE