Subclinical involvement of central nervous system structures other than motor or sensory tracts in SPG3A and SPG4 patients.

Metabolic signatures in sciatic nerve of PMP22 transgenic rats provide insights into the pathogenesis of charcot-marie-tooth disease type 1 A.

Fampridine in Hereditary Spastic Paraplegia Type 4 With SPAST Variant c.683-2A>C: A Case Report.

Comprehensive Characterization of Spastic Paraplegia in Korean Patients: A Single-Center Experience over Two Decades.

Miglustat does not impact clinical progression in patients with spastic paraplegia type 11.

Abnormal fat distribution in two patients with RAB7A-associated Charcot-Marie-Tooth type 2B: a case report.

PMP22-Related Neuropathies: A Systematic Review.

The Ighmbp2-R604X mouse presents with the most severe SMARD1 clinical symptoms resulting in failure to thrive, respiratory and feeding deficits, aspiration and severe axon and muscle pathology.

A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family.

Clinical and functional analysis of KIF5A related spastic paraplegia type 10.

Anaesthetic management using remimazolam in a patient with Charcot-Marie-Tooth disease complicated by sarcoidosis.

The current status of Charcot-Marie-Tooth disease type 1 A treatment.

Characterization of novel and recurrent SPTLC2 variants in childhood-onset amyotrophic lateral sclerosis: Insights into sphingolipid dysregulation.

Long-Term Clinical Characterization of ENTPD1-Related Spastic Paraplegia: A Novel Variant and Comprehensive Literature Review.

Untargeted lipidomic deep-profiling of human plasma via high-performance aza-Prilezhaev aziridination-LC-MS: Unraveling CC isomeric signatures of Charcot-Marie-Tooth disease.

Estradiol rescues male hydroxyl radical-mediated Charcot-Marie-Tooth 2Z by Morc2a stabilization through autophagy inhibition in a murine model.

Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy.

Clinical Characteristics of Gait Disturbance in Charcot-Marie-Tooth Disease and Future Directions in Physical Therapy.

Nerve Diameter and DTI Parameters Maybe Potential Markers for Clinical Trial in Patients With Charcot-Marie-Tooth Disease Type 1A.

Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants.

Structural brain changes contributing to motor signs in pure hereditary spastic paraplegia type 4.

The NeflE397K mouse model demonstrates muscle pathology and motor function deficits consistent with CMT2E.

Effectiveness of the Dual GIP/GLP1-Agonist Tirzepatide in 2 Cases of Alström Syndrome, a Rare Obesity Syndrome.

A Major Disease-Related Point Mutation in Spastin Dramatically Alters the Dynamics and Allostery of the Motor.

Activation of XBP1s attenuates disease severity in models of proteotoxic Charcot-Marie-Tooth type 1B.

Genetic landscape of Charcot-Marie-Tooth disease in Vietnam: A prospective multicenter study.

Two novel SH3TC2 mutations predispose to Charcot-Marie-Tooth disease type 4C by mistargeting away from TFRC.

Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13.

Talar Morphology of Charcot-Marie-Tooth Patients With Cavovarus Feet.

Spinal cord cross sign: a potential marker for hereditary spastic paraplegia type 5.

Transcriptomic analysis reinforces the implication of spatacsin in neuroinflammation and neurodevelopment.

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

Co-Existent Central and Peripheral Demyelination: Related or Coincidental?

Electrical impedance myography detects progressive pathological alterations in the hindlimb muscle of the PMP22-C3 mice, an animal model of CMT1A.

Patient-Relevant Digital-Motor Outcomes for Clinical Trials in Hereditary Spastic Paraplegia Type 7: A Multicenter PROSPAX Study.

Co-occurrence of Charcot-Marie-Tooth disease type 1 and glomerulosclerosis in a patient with a de novo INF2 variant.

Genetically confirmed Charcot-Marie-Tooth disease type 2A manifesting with postural tremor: a case report.

Spastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation.

Lower limb nerve ultrasound: A four-way comparison of acquired and inherited axonopathy, inherited neuronopathy and healthy controls.

Sensory-Motor Neuropathy in Mfn2 T105M Knock-in Mice and Its Reversal by a Novel Piperine-Derived Mitofusin Activator.

Hereditary spastic paraplegia and extensive leukoencephalopathy: a case report of a unique phenotype associated with a GJB1/Cx32 p.Pro174Ser variant.

Noninvasive ventilation and laser-assisted unilateral posterior cordotomy as novel multidisciplinary approaches for Charcot-Marie-Tooth disease 4B vocal cord paralysis: a case report.

Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J.

Identification of novel compound heterozygous variants of the ALMS1 gene in a child with Alström syndrome by whole genome sequencing.

[Developmental and epileptic encephalopathy produced by the ATP1A2 mutation].

Cochlear implantation in patients with Charcot-Marie-Tooth disease: two cases with a review of the literature.

Lack of effect from genetic deletion of Hdac6 in a humanized mouse model of CMT2D.

Late Onset of Severe Demyelinating Peripheral Neuropathy in a 62-Year-Old African American Woman.

Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A.

Evolutionary analysis and biological characterization of a novel alphabaculovirus isolated from Mythimna separata.

Morc2a variants cause hydroxyl radical-mediated neuropathy and are rescued by restoring GHKL ATPase.

Glucagon-like peptide-1 analogues in monogenic syndromic obesity: Real-world data from a large cohort of Alström syndrome patients.

Upper and lower limb tremor in Charcot-Marie-Tooth neuropathy type 1A and the implications for standing balance.

Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand.

Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy.

Heterogenous electrophysiological features in early stage of hereditary transthyretin amyloidosis neuropathy.

Unveiling the clinical and electrophysiological profile of CMTX6: Insights from two Brazilian families.

Intravenous Administration of an AAV9 Vector Ubiquitously Expressing C1orf194 Gene Improved CMT-Like Neuropathy in C1orf194-/- Mice.

Diagnostic value of nerve conduction study in NOTCH2NLC-related neuronal intranuclear inclusion disease.

Two new mouse models of Gjb1-associated Charcot-Marie-Tooth disease type 1X.

Evaluation of the median nerve by shear wave elastography in patients with Charcot-Marie-Tooth disease type 1A.

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.

Disease-specific wearable sensor algorithms for profiling activity, gait, and balance in individuals with Charcot-Marie-Tooth disease type 1A.

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

Pyrroline-5-carboxylate reductase 2 (PYCR2) deficiency causes hereditary spastic paraplaegia in late childhood.

Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study.

Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia.

Proof of principle for the clinical use of a CE-certified automatic imaging analysis tool in rare diseases studying hereditary spastic paraplegia type 4 (SPG4).

Knock-in mouse models for CMTX1 show a loss of function phenotype in the peripheral nervous system.

Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.

Young infants with PMP22 duplication can have minor nerve conduction study abnormalities.

Stance and swing phase ankle phenotypes in youth with Charcot-Marie-Tooth type 1: An evaluation using comprehensive gait analysis techniques.

Evidence of nerve hypertrophy in patients with inclusion body myositis on lower limb MRI.

Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry.

The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.

Utility of Carpal Tunnel Release and Ulnar Decompression in CMT1A and HNPP.

A Rare Phenotype of Uncommon Charcot-Marie-Tooth Genotypes Complicated With Inflammation Evaluated by Genetics and Magnetic Resonance Neurography.

Alpha-1 Antitrypsin Reduces Disease Progression in a Mouse Model of Charcot-Marie-Tooth Type 1A: A Role for Decreased Inflammation and ADAM-17 Inhibition.

[Analysis of a pedigree with distal hereditary motor neuropathy type 2A caused by mutation in HSPB8 gene].

EGR2-related mixed demyelinating and axonal Charcot-Marie-Tooth disease: An electrodiagnostic, nerve imaging, and histological study.

Hearing Loss in Adults With Alström Syndrome-Experience From the UK National Alström Service.

Clinicopathological features in two families with MARS-related Charcot-Marie-Tooth disease.

Clinical and genetic features of Charcot-Marie-Tooth disease patients with IGHMBP2 mutations.

Multiple sclerosis in patients with hereditary spastic paraplegia: a case report and systematic review.

Do different foot types affect the 6-min walk test capacity of younths with Charcot-Marie-Tooth neuropathy ?

Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1.

Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies.

Age-Dependent Increase in Schmidt-Lanterman Incisures and a Cadm4-Associated Membrane Skeletal Complex in Fatty Acid 2-hydroxylase Deficient Mice: a Mouse Model of Spastic Paraplegia SPG35.

Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation.

Predicting Mitochondrial Dynamic Behavior in Genetically Defined Neurodegenerative Diseases.

Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.

Pathology of the peripheral neuropathy Charcot-Marie-Tooth disease type 4H in Holstein Friesian cattle with a splice site mutation in FGD4.

Illustration of a rare case of hereditary spastic paraplegia type 30 associated with a missense variant in the non-motor domain of KIF1A.

Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study.

Same same, but different? The neurological presentation of wildtype transthyretin (ATTRwt) amyloidosis.

HDAC6 Inhibition Corrects Electrophysiological and Axonal Transport Deficits in a Human Stem Cell-Based Model of Charcot-Marie-Tooth Disease (Type 2D).

Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1.

A longitudinal and cross-sectional study of plasma neurofilament light chain concentration in Charcot-Marie-Tooth disease.

Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.

Aberrant Mitochondrial Dynamics and Exacerbated Response to Neuroinflammation in a Novel Mouse Model of CMT2A.

Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy.

A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A.

Charcot-Marie-Tooth neuropathy score and ambulation index are both predictors of orthotic need for patients with CMT.

Potential markers for sample size estimations in hereditary spastic paraplegia type 5.

Quantitative assessment of muscle echogenicity in Charcot-Marie-Tooth disease type 1A by automatic thresholding methods.

A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy.

SIRT2-knockdown rescues GARS-induced Charcot-Marie-Tooth neuropathy.

Updated review of therapeutic strategies for Charcot-Marie-Tooth disease and related neuropathies.

Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population.

GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease.

Neuro-Ophthalmic Phenotype of OPA3.

Tetrahydroquinoline-Capped Histone Deacetylase 6 Inhibitor SW-101 Ameliorates Pathological Phenotypes in a Charcot-Marie-Tooth Type 2A Mouse Model.

Genetic and clinical spectrums in Korean Charcot-Marie-Tooth disease patients with myelin protein zero mutations.

A novel PMP22 insertion mutation causing Charcot-Marie-Tooth disease type 3: A case report.

AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies.

Charcot-Marie-Tooth Disease With Long-Term Follow-Up on Auditory Neuropathy-After Cochlear Implantation Or Hearing Aid Use.

Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7.

AAV1.NT-3 gene therapy for X-linked Charcot-Marie-Tooth neuropathy type 1.

Metabolic and Functional Improvements in a Patient with Charcot-Marie-Tooth Disease Type 2 after EGCG Administration: A Case Report.

Employment status of patients with Charcot-Marie-Tooth type 1A.

A novel histone deacetylase 6 inhibitor improves myelination of Schwann cells in a model of Charcot-Marie-Tooth disease type 1A.

[The application of scales and characteristics of disability in the common genotypes of Charcot-Marie-Tooth disease].

Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec.

Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland - genetic and clinical presentation.

Systematic review of CMTX1 patients with episodic neurological dysfunction.

Decreased turnover of the CNS myelin protein Opalin in a mouse model of hereditary spastic paraplegia 35.

The prevalence of hereditary neuromuscular disorders in Northern Norway.

Short hairpin RNA treatment improves gait in a mouse model of Charcot‑Marie‑Tooth disease type 1A.

Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56.

Charcot-Marie-Tooth disease type 1A: Longitudinal change in nerve ultrasound parameters.

Diffuse brain connectivity changes in Charcot-Marie-Tooth type 1a patients: a resting-state functional magnetic resonance imaging study.

Assessing non-Mendelian inheritance in inherited axonopathies.

Long-term walking ability and patient satisfaction after lower limb functional surgery in patients affected by Charcot-Marie-Tooth disease: A retrospective study.

Vagus Nerve Ultrasound in Chronic Inflammatory Demyelinating Polyradiculoneuropathy and Charcot-Marie-Tooth Disease Type 1A.

Confounding clinical presentation and different disease progression in CMT4B1.

Early-onset cerebellar ataxia in a patient with CMT2A2.

Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.

Truncated mutants of beta-glucosidase 2 (GBA2) are localized in the mitochondrial matrix and cause mitochondrial fragmentation.

Disruption of dystonin in Schwann cells results in late-onset neuropathy and sensory ataxia.

Quality of life in hereditary neuropathy with liability to pressure palsies is as impaired as in Charcot-Marie-Tooth disease type 1A.

Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy.

FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.

Segmental nerve enlargement in CMT4J.

HDAC6 inhibition promotes α-tubulin acetylation and ameliorates CMT2A peripheral neuropathy in mice.

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

Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy.

Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11.

Novel HDAC6 Inhibitors Increase Tubulin Acetylation and Rescue Axonal Transport of Mitochondria in a Model of Charcot-Marie-Tooth Type 2F.

Homozygous splice-site mutation c.78 + 5G>A in PMP22 causes congenital hypomyelinating neuropathy.

Clinical characterisation of sensory neuropathy with anti-FGFR3 autoantibodies.

Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia.

Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia.

Slowed vertical saccades as a hallmark of hereditary spastic paraplegia type 7.

Longitudinal 16-year study of dominant intermediate CMT type C neuropathy.

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.

Muscle pathology of hereditary motor and sensory neuropathy with proximal dominant involvement with TFG mutation.

Novel mutation in the periaxin gene causal to Charcot-Marie-Tooth disease type 4F.

A neutral lipid-enriched diet improves myelination and alleviates peripheral nerve pathology in neuropathic mice.

Acute neurotoxicity following vincristine due to Charcot-Marie-Tooth disease in a young child with medulloblastoma.

A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset.

[A genotyping study of 13 cases of early-onset Charcot-Marie-Tooth disease].

Severe Consequences of SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J.

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp).

PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability.

Hereditary spastic paraplegia type 35 in a family from Mali.

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.

[Deletional variant of REEP1 gene in a pedigree affected with spastic paraplegia type 31].

Physical function and performance measures of children and adolescents with Charcot-Marie-Tooth disease.

Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.

Functional effects of botulinum toxin type A in the hip adductors and subsequent stretching in patients with hereditary spastic paraplegia.

Familial, long-term pollakisuria as initial manifestation of HSP4 due to the SPAST variant c.683-2A>C.

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.

A novel CPT1C variant causes pure hereditary spastic paraplegia with benign clinical course.

Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS).

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.

Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene.

Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies.

Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy.

Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A).

Diffusion tensor imaging of the sciatic nerve in Charcot-Marie-Tooth disease type I patients: a prospective case-control study.

Autonomic dysfunction in hereditary spastic paraplegia type 4.

Enhanced axonal neuregulin-1 type-III signaling ameliorates neurophysiology and hypomyelination in a Charcot-Marie-Tooth type 1B mouse model.

Walking Speed Is Correlated With the Isokinetic Muscular Strength of the Knee in Patients With Charcot-Marie-Tooth Type 1A.

Impaired sensorimotor control of the hand in congenital absence of functional muscle spindles.

Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.

Myelinated axons fail to develop properly in a genetically authentic mouse model of Charcot-Marie-Tooth disease type 2E.

Botulinum toxin for hereditary spastic paraplegia: effects on motor and non-motor manifestations.

Association of miR-149 polymorphism with onset age and severity in Charcot-Marie-Tooth disease type 1A.

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.

Five novel ALMS1 gene mutations in six patients with Alström syndrome.

Is Going Beyond Rasch Analysis Necessary to Assess the Construct Validity of a Motor Function Scale?

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.

Gait and footwear in children and adolescents with Charcot-Marie-Tooth disease: A cross-sectional, case-controlled study.

Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.

Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy.

Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination.

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.

Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.

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