Clinical spectrum and frequency of Charcot–Marie–Tooth disease in Italy: Data from the National CMT Registry

A meta-analysis on the prevalence of Charcot–Marie–Tooth disease and related inherited peripheral neuropathies

(2023) Miaomiao Ma et al.   JOURNAL OF NEUROLOGY

Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study

(2022) Vera Fridman et al.   ANNALS OF NEUROLOGY

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

(2020) Vera Fridman et al.   NEUROLOGY

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

(2020) Andrea Cortese et al.   NATURE GENETICS

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

(2020) Menelaos Pipis et al.   BRAIN

Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot‐Marie‐Tooth disease

(2019) Cong‐Xin Chen et al.   CLINICAL GENETICS

Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients

(2018) György Máté Milley et al.   NEUROMUSCULAR DISORDERS

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

The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage

(2018) Anna Ambrosini et al.   Orphanet Journal of Rare Diseases

Charcot–Marie–Tooth disease: genetic subtypes in the Sardinian population

(2017) Lorena Lorefice et al.   NEUROLOGICAL SCIENCES

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)

(2017) Francis B. Panosyan et al.   NEUROLOGY

Screening forSH3TC2gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4)

(2016) Giuseppe Piscosquito et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

(2015) S. Rudnik-Schöneborn et al.   CLINICAL 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

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

(2014) V Fridman et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population

(2014) Fiore Manganelli et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Clinical spectrum and gender differences in a large cohort of Charcot–Marie–Tooth type 1A patients

(2013) Cécile Colomban et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

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

Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series

(2013) R. Sivera et al.   NEUROLOGY

Charcot-Marie-Tooth disease: Frequency of genetic subtypes in a German neuromuscular center population

(2013) Burkhard Gess et al.   NEUROMUSCULAR DISORDERS

Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

(2012) Sinead M Murphy et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Charcot-marie-tooth disease subtypes and genetic testing strategies

(2011) Anita S.D. Saporta et al.   ANNALS OF NEUROLOGY

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease

(2011) Sinéad M. Murphy et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial

(2011) Davide Pareyson et al.   LANCET NEUROLOGY

MFN2 mutations cause severe phenotypes in most patients with CMT2A

(2011) S. M. E. Feely et al.   NEUROLOGY

168th ENMC International Workshop: Outcome measures and clinical trials in Charcot–Marie–Tooth disease (CMT)

(2010) M.M. Reilly et al.   NEUROMUSCULAR DISORDERS

Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families

(2008) A. Mazzeo et al.   ACTA NEUROLOGICA SCANDINAVICA

Neuropathy progression in Charcot-Marie-Tooth disease type 1A

(2008) M. E. Shy et al.   NEUROLOGY