• A network biology approach to unraveling inherited axonopathies
• A New Case of Autosomal-Dominant <em>POLR3B</em>-Related Disorder: Widening Genotypic and Phenotypic <em>Spectrum</em>
• A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report
• A profound computational study to prioritize the disease-causing mutations in PRPS1 gene
• A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia
• Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A
• Association between cytomegalovirus infection and neurological disorders: A systematic review
• Ataxia pancytopenia syndrome due to SAMD9L mutation presenting as demyelinating neuropathy
• Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the <em>PRPS1</em> gene
• Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study
• Avelumab Plus Talazoparib in Patients With BRCA1/2- or ATM-Altered Advanced Solid Tumors: Results From JAVELIN BRCA/ATM, an Open-Label, Multicenter, Phase 2b, Tumor-Agnostic Trial
• Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome
• Cell Death Mechanisms in a Mouse Model of Retinal Degeneration in Spinocerebellar Ataxia 7
• Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying <em>MME</em> mutations
• Characterization of a novel variant in the HR1 domain of <em>MFN2</em> in a patient with ataxia, optic atrophy and sensorineural hearing loss
• Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing loss
• Charcot-Marie-Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence
• Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects
• Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review
• Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia
• Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1
• Clinical spectrum of AIFM1-associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness
• Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1
• Coexistence of Charcot-Marie-Tooth disease type 1A and anti-MAG neuropathy
• Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein
• Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7
• Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
• Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases
• Early-onset cerebellar ataxia in a patient with CMT2A2
• EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset
• Electrodiagnostic Evaluation of Peripheral Neuropathy
• Electrodiagnostic Evaluation of Peripheral Neuropathy
• ELOVL5 mutations cause spinocerebellar ataxia 38
• Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy
• Expanding the spectrum of <em>KIF5A</em> mutations-case report of a large kindred with familial ALS and overlapping syndrome
• Family planning decisional needs assessment for recessive hereditary disorders: Insights from carrier couples and professionals
• FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome
• From splitting GLUT1 deficiency syndromes to overlapping phenotypes
• Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort
• Insights into phenotypic variability caused by GARS1 pathogenic variants
• Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
• Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46)
• Late-Onset Friedreich's Ataxia (LOFA) Mimicking Charcot-Marie-Tooth Disease Type 2: What Is Similar and What Is Different?
• Lhermitte Sign
• Lhermitte Sign
• LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2
• Megalencephalic leukoencephalopathy with subcortical cysts is a developmental disorder of the gliovascular unit
• Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype
• Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes
• Morc2a p.S87L mutant mice develop peripheral and central neuropathies associated with neuronal DNA damage and apoptosis
• Multiple urinary peptides display distinct sex-specific distribution
• Muscle spindle alterations precede onset of sensorimotor deficits in Charcot-Marie-Tooth type 2E
• Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease
• Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy
• Mutations in TGM6 induce the unfolded protein response in SCA35
• Neurological associations in auditory neuropathy spectrum disorder: Results from a tertiary hospital in South India
• Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound
• Neurophysiologic intraoperative monitoring (NIOM) in pediatric patients with polyneuropathy
• New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay
• Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel
• Novel insights into SLC25A46-related pathologies in a genetic mouse model
• Novel mutation in the periaxin gene causal to Charcot-Marie-Tooth disease type 4F
• Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease
• Novel Variants in <em>MPV17, PRX, GJB1</em>, and <em>SACS</em> Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases
• Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases
• Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report
• Partners in crime: Proteins implicated in RNA repeat expansion diseases
• Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair
• Pathways to healing: Plants with therapeutic potential for neurodegenerative diseases
• Peripheral Neuropathy in Spinocerebellar Ataxia Type 1, 2, 3, and 6
• Phenotypic Characterization of Larval Zebrafish (Danio rerio) with Partial Knockdown of the cacna1a Gene
• Phenotypic heterogeneity in patients with NEFL-related Charcot-Marie-Tooth disease
• Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder
• Plastin 3 in health and disease: a matter of balance
• PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum
• Predicting Mitochondrial Dynamic Behavior in Genetically Defined Neurodegenerative Diseases
• Progressive cerebellar ataxia and new-onset diabetes
• RNA-binding disturbances as a continuum from spinocerebellar ataxia type 2 to Parkinson disease
• Screening for <em>PRX</em> mutations in a large Chinese Charcot-Marie-Tooth disease cohort and literature review
• Screening for PRX mutations in a large Chinese Charcot-Marie-Tooth disease cohort and literature review
• SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families
• Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion
• Stepwise activation of the ATR signaling pathway upon increasing replication stress impacts fragile site integrity
• SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease
• Systematic review of CMTX1 patients with episodic neurological dysfunction
• The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C
• The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy
• The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics
• The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25
• The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
• The role of sleep in neuromuscular disorders
• The roles of HSP40/DNAJ protein family in neurodegenerative diseases
• The small heat shock protein HspB8: role in nervous system physiology and pathology
• The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy
• Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1
• Transient, Recurrent Central Nervous System Clinical Manifestations of X-Linked Charcot-Marie-Tooth Disease Presenting with Very Long Latency Periods between Episodes: Is Prolonged Sun Exposure a Provoking Factor?
• Ultrasound of peripheral nerves distinguishes inherited sensory neuronopathy of cerebellar ataxia with neuropathy and vestibular areflexia syndrome from inherited axonopathy
• Upside-Down Preference in the Forskolin-Induced In Vitro Differentiation of 50B11 Sensory Neurons: A Morphological Investigation by Label-Free Non-Linear Microscopy
• Wide phenotypic spectrum in axonal Charcot-Marie-Tooth neuropathy type 2 patients with KIF5A mutations
• X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation