• A case of congenital axonal neuropathy associated with West syndrome
• A case of infantile neuroaxonal dystrophy of neonatal onset
• A cohort study of Han Chinese MFN2-related Charcot-Marie-Tooth 2A
• A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy
• A model of motor neuron loss: selective deficits after ricin injection
• A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease
• A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers
• A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy
• A Novel Synergistic Association of Variants in PTRH2 and KIF1A Relates to a Syndrome of Hereditary Axonopathy, Outer Hair Cell Dysfunction, Intellectual Disability, Pancreatic Lipomatosis, Diabetes, Cerebellar Atrophy, and Vertebral Artery Hypoplasia
• Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants
• Acute onset of infantile spinal muscular atrophy
• Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation
• ATP7A-related copper transport diseases-emerging concepts and future trends
• Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction
• Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel <em>de novo</em> heterozygous <em>DNM1L</em> variant
• Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case
• Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
• Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy
• Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
• Clinical features and diagnosis of Pelizaeus-Merzbacher disease: five case reports
• Clinically relevant mouse models of Charcot-Marie-Tooth type 2S
• Clinically relevant mouse models of severe spinal muscular atrophy with respiratory distress type 1
• Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy--a new distal hereditary motor neuropathy phenotype
• De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay
• Diagnostic value of muscle, sural nerve and skin biopsies in childhood neuromuscular disorders
• Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1
• Distinct phenotypes within autosomal recessive ataxias not linked to already known loci
• Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum
• Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement
• Expanding the spectrum of genes responsible for hereditary motor neuropathies
• GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course
• Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand
• Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset
• Genetic evaluation of inherited motor/sensory neuropathy
• Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years
• Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene
• Genotype-phenotype correlations of AR-CMT2S in a cohort of axonal Charcot-Marie-Tooth patients from Central South China
• Glaucoma
• Glaucoma
• Glaucoma (Nursing)
• Glaucoma (Nursing)
• Guillain-Barré syndrome: perspectives with infants and children
• HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases
• Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder
• Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease
• Immune-mediated inflammatory polyneuropathy overlapping Charcot-Marie-Tooth 1B
• Immunohistochemical localization of cytokines, C5b-9 and ICAM-1 in peripheral nerve of Guillain-Barré syndrome
• Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood?
• Infantile onset neurofibromatosis type 2 presenting with peripheral facial palsy, skin patches, retinal hamartoma and foot drop
• Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky
• Infantile spinal muscular atrophy type 1 mimicking axonal sensory-motor polyneuropathy
• Infantile-Onset Charcot-Marie-Tooth Disease With Pyramidal Features and White Matter Abnormalities Due to a <em>De novo MORC2</em> Gene Variant: A Case Report and Brief Review of the Literature
• Infantile-Onset Charcot-Marie-Tooth Disease With Pyramidal Features and White Matter Abnormalities Due to a De novo MORC2 Gene Variant: A Case Report and Brief Review of the Literature
• Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene
• Inherited peripheral neuropathy
• Insidious peripheral neuropathy occurring under treatment in infantile MTHFR deficiency
• Insights into phenotypic variability caused by GARS1 pathogenic variants
• IOSCA - Infantile onset spinocerebellar ataxia
• Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect
• Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease
• Molecular basis of hereditary neuropathies
• Motor neuropathy contributes to crouching in patients with Dravet syndrome
• MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B
• Multifaceted and Age-Dependent Phenotypes Associated With Biallelic <em>PNPLA6</em> Gene Variants: Eight Novel Cases and Review of the Literature
• Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan
• Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin
• Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease
• Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features
• Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder
• Nerve conduction velocity in CMT1A: what else can we tell?
• Neurofilament Proteins as Prognostic Biomarkers in Neurological Disorders
• Neuronal phospholipid deacylation is essential for axonal and synaptic integrity
• Neuropathology of the spinal nerve roots, spinal cord, and brain in the first autopsied case of Charcot-Marie-Tooth disease 4F with a D651N mutation in the periaxin gene
• Novel mutations in the <em>HADHB</em> gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency
• Peripheral nerve pathology at fixed stage in spinal muscular atrophy with respiratory distress type 1
• Peripheral neuropathy in the Twitcher mouse involves the activation of axonal caspase 3
• PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings
• PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression
• Progressive infantile axonal polyneuropathy
• Pseudodominance in Friedreich Ataxia-Impact of High Prevalence of Carriers and Intrafamilial Clinical Variation
• Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy
• Report of a novel ATP7A mutation causing distal motor neuropathy
• SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency
• Screening for Fabry disease in unknown origin axonal polyneuropathy: to do or not to do, this is the question!
• Severe distal muscle involvement and mild sensory neuropathy in a boy with infantile onset Pompe disease treated with enzyme replacement therapy for 6 years
• Severe infantile axonal neuropathy with respiratory failure
• Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked <em>LAS1L</em> Gene
• Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene
• Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1
• Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency
• Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1: Two Cases
• Skeletal muscle involvement in biallelic <em>SORD</em> mutations: case report and review of the literature
• Sphingomyelin as a myelin biomarker in CSF of acquired demyelinating neuropathies
• Sulfatide levels correlate with severity of neuropathy in metachromatic leukodystrophy
• Taxane and epothilone-induced peripheral neurotoxicity: From pathogenesis to treatment
• Techniques for the standard histological and ultrastructural assessment of nerve biopsies
• The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy
• Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease
• Type I spinal muscular atrophy can mimic sensory-motor axonal neuropathy
• Xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other cases