Updated review of therapeutic strategies for Charcot-Marie-Tooth disease and related neuropathies
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Title
Updated review of therapeutic strategies for Charcot-Marie-Tooth disease and related neuropathies
Authors
Keywords
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Journal
Expert Review of Neurotherapeutics
Volume 21, Issue 6, Pages 701-713
Publisher
Informa UK Limited
Online
2021-05-26
DOI
10.1080/14737175.2021.1935242
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Note: Only part of the references are listed.- AAV1.NT-3 gene therapy for X-linked Charcot–Marie–Tooth neuropathy type 1
- (2021) Burcak Ozes et al. GENE THERAPY
- Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy
- (2021) Marta Guerrero-Valero et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Squalenoyl siRNA PMP22 nanoparticles are effective in treating mouse models of Charcot-Marie-Tooth disease type 1 A
- (2021) Suzan Boutary et al. Communications Biology
- Pain Phenotypes in Rare Musculoskeletal and Neuromuscular Diseases
- (2021) Anthony Tucker-Bartley et al. NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
- AAV2/9-mediated silencing of PMP22 prevents the development of pathological features in a rat model of Charcot-Marie-Tooth disease 1 A
- (2021) Benoit Gautier et al. Nature Communications
- HDAC6 inhibition promotes α-tubulin acetylation and ameliorates CMT2A peripheral neuropathy in mice
- (2020) Cristina Picci et al. EXPERIMENTAL 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
- Myelin protein zero gene dose dependent axonal ion-channel dysfunction in a family with Charcot-Marie-Tooth disease
- (2020) Mihai Moldovan et al. CLINICAL NEUROPHYSIOLOGY
- Validation of the Italian version of the Charcot‐Marie‐Tooth Health Index
- (2020) Chiara Pisciotta et al. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
- Reliability of the Charcot‐Marie‐Tooth Functional Outcome Measure ( CMT‐FOM )
- (2020) Paula Bray et al. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
- Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation
- (2020) G. Perez-Siles et al. Scientific Reports
- Development and Validation of the Pediatric Charcot–Marie–Tooth Disease Quality of Life Outcome Measure
- (2020) Sindhu Ramchandren et al. ANNALS OF NEUROLOGY
- Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study
- (2020) Menelaos Pipis et al. BRAIN
- Gene therapy targeting SARM1 blocks pathological axon degeneration in mice
- (2019) Stefanie Geisler et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1
- (2019) Vera Fridman et al. NEUROLOGY
- Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A)
- (2019) Thomas Prukop et al. PLoS One
- Cost of illness in Charcot-Marie-Tooth neuropathy
- (2019) Elisabeth Schorling et al. NEUROLOGY
- Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model
- (2019) Yueqin Zhou et al. JOURNAL OF CLINICAL INVESTIGATION
- Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy
- (2019) Natasa Schiza et al. BRAIN
- Schwann cell transcript biomarkers for hereditary neuropathy skin biopsies
- (2019) John Svaren et al. ANNALS OF NEUROLOGY
- Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1
- (2019) Umaiyal Kugathasan et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Onasemnogene Abeparvovec: First Global Approval
- (2019) Sheridan M. Hoy DRUGS
- Are we prepared for clinical trials in Charcot-Marie-Tooth disease?
- (2019) A.M. Rossor et al. BRAIN RESEARCH
- Elevated Peripheral Myelin Protein 22, Reduced Mitotic Potential, and Proteasome Impairment in Dermal Fibroblasts from Charcot-Marie-Tooth Disease Type 1A Patients
- (2018) Sooyeon Lee et al. AMERICAN JOURNAL OF PATHOLOGY
- The Charcot Marie Tooth Health Index: Evaluation of a Patient Reported Outcome
- (2018) Nicholas E Johnson et al. ANNALS OF NEUROLOGY
- HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease
- (2018) Veronick Benoy et al. BRAIN
- AAV1.NT-3 gene therapy increases muscle fiber diameter through activation of mTOR pathway and metabolic remodeling in a CMT mouse model
- (2018) Mehmet E. Yalvac et al. GENE THERAPY
- Intrathecal gene therapy in mouse models expressing CMT1X mutations
- (2018) A Kagiava et al. HUMAN MOLECULAR GENETICS
- Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development
- (2018) Manisha Juneja et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Locally acting ACE-083 increases muscle volume in healthy volunteers
- (2018) Chad E. Glasser et al. MUSCLE & NERVE
- Plasma neurofilament light chain concentration in the inherited peripheral neuropathies
- (2018) Åsa Sandelius et al. NEUROLOGY
- Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis
- (2018) David Adams et al. NEW ENGLAND JOURNAL OF MEDICINE
- Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis
- (2018) Merrill D. Benson et al. NEW ENGLAND JOURNAL OF MEDICINE
- MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A
- (2018) Agostinho G. Rocha et al. SCIENCE
- Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B
- (2018) Yunhong Bai et al. Annals of Clinical and Translational Neurology
- Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A
- (2018) Jasper M. Morrow et al. NEUROLOGY
- The Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM)
- (2018) Katy Eichinger et al. NEUROLOGY
- Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy
- (2018) R. Fledrich et al. Nature Communications
- Enhanced axonal Neuregulin-1 type-III signaling ameliorates neurophysiology and hypomyelination in a Charcot-Marie-Tooth type 1B mouse model
- (2018) Cristina Scapin et al. HUMAN MOLECULAR GENETICS
- PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models
- (2017) Hien Tran Zhao et al. JOURNAL OF CLINICAL INVESTIGATION
- Pmp22 mutant allele-specific siRNA alleviates demyelinating neuropathic phenotype in vivo
- (2017) Ji-Su Lee et al. NEUROBIOLOGY OF DISEASE
- 221st ENMC International Workshop:
- (2017) Mary M. Reilly et al. NEUROMUSCULAR DISORDERS
- Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
- (2017) Richard S. Finkel et al. NEW ENGLAND JOURNAL OF MEDICINE
- Niacin‐mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination
- (2016) Alessandra Bolino et al. EMBO Molecular Medicine
- Rehabilitation Management of the Charcot–Marie–Tooth Syndrome
- (2016) Bruno Corrado et al. MEDICINE
- Tolerability and efficacy study of P2X7 inhibition in experimental Charcot-Marie-Tooth type 1A (CMT1A) neuropathy
- (2016) Giovanna Sociali et al. NEUROBIOLOGY OF DISEASE
- An oral Na V 1.8 blocker improves motor function in mice completely deficient of myelin protein P 0
- (2016) Mette R. Rosberg et al. NEUROSCIENCE LETTERS
- IntraneuralGJB1gene delivery improves nerve pathology in a model of X-linked Charcot-Marie-Tooth disease
- (2015) Irene Sargiannidou et al. ANNALS OF NEUROLOGY
- Targeting the colony stimulating factor 1 receptor alleviates two forms of Charcot–Marie–Tooth disease in mice
- (2015) Dennis Klein et al. BRAIN
- Responsiveness of clinical outcome measures in Charcot−Marie−Tooth disease
- (2015) G. Piscosquito et al. EUROPEAN JOURNAL OF NEUROLOGY
- Systematic review of exercise for Charcot-Marie-Tooth disease
- (2015) Amy D. Sman et al. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
- Preventing proteostasis diseases by selective inhibition of a phosphatase regulatory subunit
- (2015) I. Das et al. SCIENCE
- PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker
- (2014) L. Nobbio et al. BRAIN
- GABA and its B-receptor are present at the node of Ranvier in a small population of sensory fibers, implicating a role in myelination
- (2014) Mikael Corell et al. JOURNAL OF NEUROSCIENCE RESEARCH
- 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
- Soluble neuregulin-1 modulates disease pathogenesis in rodent models of Charcot-Marie-Tooth disease 1A
- (2014) Robert Fledrich et al. NATURE MEDICINE
- An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A
- (2014) Shahram Attarian et al. Orphanet Journal of Rare Diseases
- Polytherapy with a combination of three repurposed drugs (PXT3003) down-regulates Pmp22 over-expression and improves myelination, axonal and functional parameters in models of CMT1A neuropathy
- (2014) Ilya Chumakov et al. Orphanet Journal of Rare Diseases
- Curcumin facilitates a transitory cellular stress response in Trembler-J mice
- (2013) Y. Okamoto et al. HUMAN MOLECULAR GENETICS
- AAV1.NT-3 Gene Therapy for Charcot–Marie–Tooth Neuropathy
- (2013) Zarife Sahenk et al. MOLECULAR THERAPY
- Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability
- (2012) Joshua Burns et al. ANNALS OF NEUROLOGY
- Clinical evaluation of the efficacy of the P2X7purinergic receptor antagonist AZD9056 on the signs and symptoms of rheumatoid arthritis in patients with active disease despite treatment with methotrexate or sulphasalazine
- (2012) Edward C Keystone et al. ANNALS OF THE RHEUMATIC DISEASES
- Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice
- (2012) Ágnes Patzkó et al. BRAIN
- 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
- HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease
- (2011) Constantin d'Ydewalle et al. NATURE MEDICINE
- PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment
- (2010) Arjan P.M. de Brouwer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- P2X7-mediated Increased Intracellular Calcium Causes Functional Derangement in Schwann Cells from Rats with CMT1A Neuropathy
- (2009) Lucilla Nobbio et al. JOURNAL OF BIOLOGICAL CHEMISTRY
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