Disease: Hypertrophic neuropathy of Dejerine-Sottas
- "Ears of the lynx" sign in hereditary spastic paraplegias is not always the same!
- 3D Analysis of Joint-Sparing Charcot-Marie-Tooth Surgery Effect on Initial Standing Foot Alignment
- A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing
- A Hundred Faces for a Unique Disorder: Hereditary Spastic Paraplegia
- A missense mutation in human INSC causes peripheral neuropathy
- A novel mutation in SORD gene associated with distal hereditary motor neuropathies
- A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family
- A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia
- A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A
- AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient
- Acute-Onset Quadriplegia Presenting With Hyperreflexia: A Dilemma in Diagnosis
- Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
- An Automated Imaging-Based Screen for Genetic Modulators of ER Organisation in Cultured Human Cells
- An interesting cause of wrist drop: The crow position in yoga and hereditary neuropathy with liability to pressure palsies
- An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study
- AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia
- Atlastin-1 regulates endosomal tubulation and lysosomal proteolysis in human cortical neurons
- Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy
- Central neurodegeneration in Kennedy's disease accompanies peripheral motor dysfunction
- Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia
- Charcot-Marie-Tooth Disease and Hearing Loss: A Systematic Review With Meta-Analysis
- Charcot-Marie-Tooth type 2A in vivo models: Current updates
- Clinical and genetic analysis of a Chinese patient with Alström syndrome
- Clinical and molecular insights into A97S variants in hereditary transthyretin amyloid polyneuropathy in South China
- Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J
- Clinical phenotype and genetic characteristics of a Chinese pedigree affected with Spastic paraplegia type 5A
- Cochlear implantation in patients with Charcot-Marie-Tooth disease: two cases with a review of the literature
- Compound Heterozygous Mutations of <em>SACS</em> in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity
- Decreasing ganglioside synthesis delays motor and cognitive symptom onset in Spg11 knockout mice
- Defining the cardiovascular phenotype of adults with Alström syndrome
- Developmental and epileptic encephalopathy produced by the ATP1A2 mutation
- Diagnostic value of lower extremity ultrasonographic nerve enlargement for differentiating demyelinating Charcot-Marie-Tooth disease from chronic inflammatory demyelinating polyneuropathy
- Distal hereditary motor neuropathies
- Electrophysiological and radiological diagnosis of hereditary motor and sensory polyneuropathy
- Expanding SPG18 clinical spectrum: autosomal dominant mutation causes complicated hereditary spastic paraplegia in a large family
- Expanding the Clinical Spectrum of <em>DRP2</em>-Associated Charcot-Marie-Tooth Disease
- Fam134c and Fam134b shape axonal endoplasmic reticulum architecture in vivo
- Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy
- Foot surgery for adults with Charcot-Marie-Tooth disease
- Forefoot Morphotypes in Cavovarus Feet: A Novel Assessment of Deformity
- Generation of one induced pluripotent stem cell line JUCGRMi004-A from a Charcot-Marie-Tooth disease type 1A (CMT1A) patient with PMP22 duplication
- Genetic analysis of a Chinese pedigree affected with atypical Charcot-Marie-Tooth disease type 1A due to duplication of PMP22 gene
- Genetic and clinical profile of 15 Chinese families with GDAP1-related Charcot-Marie-Tooth disease and identification of H256R as a frequent mutation
- Genetic Landscape of <em>SH3TC2</em> variants in Russian patients with Charcot-Marie-Tooth disease
- Genotype-phenotype correlations of AR-CMT2S in a cohort of axonal Charcot-Marie-Tooth patients from Central South China
- Giant Axonal Neuropathy: A Case Report of Subclinical Childhood Manifestations
- Hereditary motor and sensory neuropathy Okinawa type mimicking proximal myopathy
- Hereditary motor sensory neuropathy with proximal involvement (HMSN-P) associated with TFG p.Pro285Leu variant in an Italian family with a motor neuron disease-like clinical picture
- HSPB1 mutation causing distal Hereditary Motor Neuropathy type 2B in a Polish family
- Identification and analyses of exonic and copy number variants in spastic paraplegia
- Identification of novel compound heterozygous variants of the ALMS1 gene in a child with Alström syndrome by whole genome sequencing
- Insights into phenotypic variability caused by GARS1 pathogenic variants
- Intrathecal Gene Therapy for Giant Axonal Neuropathy
- Lack of effect from genetic deletion of Hdac6 in a humanized mouse model of CMT2D
- Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination
- Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy
- Loss of Fic causes progressive neurodegeneration in a Drosophila model of hereditary spastic paraplegia
- Loss-of-function mutation in DDX53 associated with hereditary spastic paraplegia-like disorder
- Mesenchymal-specific Alms1 knockout in mice recapitulates metabolic features of Alström syndrome
- Mobile digital gait analysis captures effects of botulinum toxin in hereditary spastic paraplegia
- MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study
- Neddylation orchestrates the complex transcriptional and posttranscriptional program that drives Schwann cell myelination
- Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes
- Novel genetic variant in hereditary spastic paraparesis
- Obesity-Related Ciliopathies: Focus on Advances of Biomarkers
- One-Year Longitudinal Assessment of Patients With CMT1A Using Quantitative MRI
- Outcome measures for hereditary spastic paraplegia clinical trials: Learnings from an Australian HSP center
- Overburden of rare ALMS1 deleterious variants in Chinese early-onset type 2 diabetes with severe insulin resistance
- p62/sequestosome-1 as a severity-reflecting plasma biomarker in Charcot-Marie-Tooth disease type 1A
- Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias
- Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A
- Relationship between brain white matter damage and grey matter atrophy in hereditary spastic paraplegia types 4 and 5
- Research Toward Understanding the Benefits and Limitations of Orthotic Use To Improve Mobility and Balance for Individuals With Neuropathic Conditions
- RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity
- Selenoprotein I is indispensable for ether lipid homeostasis and proper myelination
- Sensory-motor circuit is a therapeutic target for dystonia musculorum mice, a model of hereditary sensory and autonomic neuropathy 6
- Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders
- Single Nucleotide Polymorphism in Cell Adhesion Molecule L1 Affects Learning and Memory in a Mouse Model of Traumatic Brain Injury
- SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights
- SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause
- SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism
- Testing SIPA1L2 as a modifier of CMT1A using mouse models
- The <em>Hexokinase 1</em> 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering
- The molecular mechanisms that underlie IGHMBP2-related diseases
- The motor band sign differentiates hereditary spastic paraplegia from the others upper motor neuron syndromes
- The various forms of hereditary motor neuron disorders and their historical descriptions
- Trk-fused gene plays a critical role in diet-induced adipose tissue expansion and is also involved in thyroid hormone action
- TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations
- Unexpected complexity in the molecular diagnosis of spastic paraplegia 11
- Upper Limbs Muscle Co-Contraction Changes Correlate With The Physical Motor Impairments in CMT
- Upper motor neuron signs in primary lateral sclerosis and hereditary spastic paraplegia
- Use of NaF and FDG PET/CT Scan for the Assessment of Charcot Joint in Charcot-Marie-Tooth Disease: All That Glitters is Gold?
- Use of transcranial motor evoked potentials (TcMEPs) in spine deformity surgery in a case of Charcot-Marie-tooth disease-what we should know? A case report
- Validation of the Italian version of a patient-reported outcome measure for Hereditary Spastic Paraplegia
- Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies
- Vitamin D<sub>3</sub> deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis
- Whole exome sequencing in Serbian patients with hereditary spastic paraplegia
- Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease
- Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report
- Will new investigational drugs change the way we treat Charcot-Marie-Tooth disease?