Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study
Published 2020 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study
Authors
Keywords
-
Journal
BRAIN
Volume 143, Issue 12, Pages 3589-3602
Publisher
Oxford University Press (OUP)
Online
2020-10-17
DOI
10.1093/brain/awaa323
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores
- (2020) Vera Fridman et al. NEUROLOGY
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Altered interplay between endoplasmic reticulum and mitochondria in Charcot–Marie–Tooth type 2A neuropathy
- (2019) Nathalie Bernard-Marissal et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model
- (2019) Yueqin Zhou et al. JOURNAL OF CLINICAL INVESTIGATION
- A Sporadic Case of Charcot-Marie-Tooth Disease Type 2 with Left Vocal Fold Palsy due to Mitofusin 2 Mutation
- (2019) Kazuki Kanemaru et al. INTERNAL MEDICINE
- Next-generation sequencing in Charcot–Marie–Tooth disease: opportunities and challenges
- (2019) Menelaos Pipis et al. Nature Reviews Neurology
- Mitofusin gain and loss of function drive pathogenesis in Drosophila models of CMT2A neuropathy
- (2018) Najla El Fissi et al. EMBO REPORTS
- Mitochondrial hyperfusion causes neuropathy in a fly model of CMT2A
- (2018) Eri Ueda et al. EMBO REPORTS
- Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser
- (2018) Cima Saghira et al. HUMAN MUTATION
- A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family
- (2018) Lois Dankwa et al. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
- Severe cognitive impairment in a patient with CMT2A
- (2018) Pedro J. Tomaselli et al. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
- MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A
- (2018) Agostinho G. Rocha et al. SCIENCE
- Mitofusin 2: from functions to disease
- (2018) Riccardo Filadi et al. Cell Death & Disease
- Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A
- (2018) Jasper M. Morrow et al. NEUROLOGY
- A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family
- (2018) Lois Dankwa et al. NEUROMUSCULAR DISORDERS
- Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)
- (2017) Francis B. Panosyan et al. NEUROLOGY
- On the role of Mitofusin 2 in endoplasmic reticulum–mitochondria tethering
- (2017) Riccardo Filadi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
- (2017) Nuno Rocha et al. eLife
- Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants
- (2016) Gail P. Jarvik et al. AMERICAN JOURNAL OF HUMAN GENETICS
- REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
- (2016) Nilah M. Ioannidis et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience
- (2016) Marco Luigetti et al. CLINICAL NEUROLOGY AND NEUROSURGERY
- Mitofusin-2 knockdown increases ER-mitochondria contact and decreases amyloid β-peptide production
- (2016) Nuno Santos Leal et al. JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
- MFN2transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2
- (2016) Toshitaka Kawarai et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Semi-dominant mutations inMFN2-related neuropathy and implications for genetic counselling
- (2016) Pedro J. Tomaselli et al. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
- MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study
- (2016) Jasper M Morrow et al. LANCET NEUROLOGY
- Mice Hemizygous for a Pathogenic Mitofusin-2 Allele Exhibit Hind Limb/Foot Gait Deficits and Phenotypic Perturbations in Nerve and Muscle
- (2016) Peter Bannerman et al. PLoS One
- Genotype–phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in theMPZgene
- (2015) Oranee Sanmaneechai et al. BRAIN
- Responsiveness of clinical outcome measures in Charcot−Marie−Tooth disease
- (2015) G. Piscosquito et al. EUROPEAN JOURNAL OF NEUROLOGY
- 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
- Homozygous mutations inMFN2cause multiple symmetric lipomatosis associated with neuropathy
- (2015) Sarah L. Sawyer et al. HUMAN MOLECULAR GENETICS
- Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy
- (2015) Maria Tufano et al. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
- Mitofusin 2 ablation increases endoplasmic reticulum–mitochondria coupling
- (2015) Riccardo Filadi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A cohort study ofMFN2mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients
- (2014) B.-O. Choi et al. CLINICAL GENETICS
- 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
- Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis
- (2014) Reza Sadjadi et al. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
- Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model
- (2014) Alleene V. Strickland et al. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
- Charcot-Marie-Tooth Disease Type 2A
- (2014) Francesco Bombelli et al. JAMA Neurology
- ClinVar: public archive of relationships among sequence variation and human phenotype
- (2013) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- High-Dosage Ascorbic Acid Treatment in Charcot-Marie-Tooth Disease Type 1A
- (2013) Richard A. Lewis JAMA Neurology
- Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability
- (2012) Joshua Burns et al. ANNALS OF NEUROLOGY
- 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
- Mitochondrial Fission, Fusion, and Stress
- (2012) R. J. Youle et al. SCIENCE
- Charcot-marie-tooth disease subtypes and genetic testing strategies
- (2011) Anita S.D. Saporta et al. ANNALS OF NEUROLOGY
- Large Kindred Evaluation of Mitofusin 2 Novel Mutation, Extremes of Neurologic Presentations, and Preserved Nerve Mitochondria
- (2011) Christopher J. Klein ARCHIVES OF NEUROLOGY
- Charcot-Marie-Tooth disease
- (2011) Mary M. Reilly et al. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
- 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
- Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations
- (2011) J. M. Polke et al. NEUROLOGY
- Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot–Marie–Tooth type 2
- (2011) Adriana Borges Genari et al. NEUROMUSCULAR DISORDERS
- Expression of mitofusin 2R94Q in a transgenic mouse leads to Charcot–Marie–Tooth neuropathy type 2A
- (2010) Romain Cartoni et al. BRAIN
- Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement
- (2010) K. W. Chung et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Mitofusin 2 Is Necessary for Transport of Axonal Mitochondria and Interacts with the Miro/Milton Complex
- (2010) A. Misko et al. JOURNAL OF NEUROSCIENCE
- Mitochondrial fusion and fission in cell life and death
- (2010) Benedikt Westermann NATURE REVIEWS MOLECULAR CELL BIOLOGY
- A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs
- (2009) S. Ajroud-Driss et al. NEUROGENETICS
- Mitofusin 2 Builds a Bridge between ER and Mitochondria
- (2008) Carsten Merkwirth et al. CELL
- Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations
- (2008) Knut Brockmann et al. JOURNAL OF NEUROLOGY
- Mitofusin 2 tethers endoplasmic reticulum to mitochondria
- (2008) Olga Martins de Brito et al. NATURE
- Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction
- (2008) R. D. Bo et al. NEUROLOGY
- Severe early-onset axonal neuropathy with homozygous and compound heterozygousMFN2mutations
- (2008) G. A. Nicholson et al. NEUROLOGY
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started