Disease: Congenital hypomyelination neuropathy
- <em>CNTNAP1</em> Mutations and Their Clinical Presentations: New Case Report and Systematic Review
- A <em>CNTNAP1</em> Missense Variant Is Associated with Canine Laryngeal Paralysis and Polyneuropathy
- A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)
- A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)
- A double point mutation in the DNA-binding region of Egr2 switches its function from inhibition to induction of proliferation: A potential contribution to the development of congenital hypomyelinating neuropathy
- A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function
- A Novel Asp121Asn Mutation of Myelin Protein Zero Is Associated with Late-Onset Axonal Charcot-Marie-Tooth Disease, Hearing Loss and Pupil Abnormalities
- A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease
- A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene
- A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1
- A novel MPZ gene mutation in congenital neuropathy with hypomyelination
- A novel MPZ gene mutation in exon 2 causing late-onset demyelinating Charcot-Marie-Tooth disease
- Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis
- An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
- Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination
- Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met
- Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation
- Clinical implications of peripheral myelin protein 22 for nerve compression and neural regeneration: a review
- Clinico-pathologic conference: congenital hypomyelinating neuropathy in two infants of a triplet birth
- Clinicopathological and genetic study of early-onset demyelinating neuropathy
- CNTNAP1-Related Congenital Hypomyelinating Neuropathy
- Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity
- Congenital cataracts facial dysmorphism neuropathy syndrome--first Hungarian case report
- Congenital cataracts-facial dysmorphism-neuropathy
- Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4
- Congenital hypomyelinating neuropathy
- Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene
- Congenital hypomyelinating neuropathy due to a novel MPZ mutation
- Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletion
- Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation
- Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family
- Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation
- Congenital hypomyelination neuropathy in a newborn infant: unusual cause of diaphragmatic and vocal cord paralyses
- Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region
- Corrigendum: Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy
- Corrigendum: Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy
- Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants
- De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease
- Dejerine-Sottas disease: a case report
- Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0
- Deletions in the spinal muscular atrophy gene region in a newborn with neuropathy and extreme generalized muscular weakness
- Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy
- Diagnosis of a floppy neonate with misleading clues: unraveled as congenital hypomyelinating neuropathy
- Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice
- Disruption of Krox20-Nab interaction in the mouse leads to peripheral neuropathy with biphasic evolution
- Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation
- Early onset (childhood) monogenic neuropathies
- Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene
- EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset
- EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy
- Expression of kinase-deficient MEK2 ameliorates Pelizaeus-Merzbacher disease phenotypes in mice
- Foot pad skin biopsy in mouse models of hereditary neuropathy
- Genetic epidemiology of Charcot-Marie-Tooth disease
- Genetic spectrum of hereditary neuropathies with onset in the first year of life
- Gpr126 is essential for peripheral nerve development and myelination in mammals
- Hereditary peripheral neuropathies
- Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy
- Homozygous splice-site mutation c.78 + 5G>A in PMP22 causes congenital hypomyelinating neuropathy
- Homozygous splice-site mutation c.78 + 5G>A in PMP22 causes congenital hypomyelinating neuropathy
- Hypomyelination and congenital cataract: broadening the clinical phenotype
- Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families
- Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder
- Hypomyelination and Congenital Cataract: Three Siblings Presentation
- Improving clinical course in congenital hypomyelinating neuropathy
- Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy
- Molecular diagnosis of hereditary neuropathies such as Charcot-Marie-Tooth disease
- Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease
- Mouse models of human CNTNAP1-associated congenital hypomyelinating neuropathy and genetic restoration of murine neurological deficits
- Mutations in the Myelin Protein Zero result in a spectrum of Charcot-Marie-Tooth phenotypes
- Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy
- Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort
- Nab proteins are essential for peripheral nervous system myelination
- Nerve conduction studies and needle EMG in very small children
- Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy
- Novel FAM126A mutations in hypomyelination and congenital cataract disease
- Novel MPZ mutations and congenital hypomyelinating neuropathy
- Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy
- Occupational Therapy Intervention in the Child with Leukodystrophy: Case Report
- Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy
- P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves
- Pathology of a mouse mutation in peripheral myelin protein P0 is characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder
- Peripheral myelin maintenance is a dynamic process requiring constant Krox20 expression
- Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental "neural crest syndrome" related to a SOX10 mutation
- Phenomenon of Schwann cell apoptosis in a case of congenital hypomyelinating neuropathy with basal lamina onion bulb formation
- Phenotype and genotype correlation in childhood spinal muscular atrophy
- Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy
- Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain
- PMP22 related congenital hypomyelination neuropathy
- Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain
- Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients
- Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease
- Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies
- Severe demyelinating hypertrophic polyneuropathy caused by a de novo frameshift mutation within the intracellular domain of myelin protein zero (MPZ/P0)
- Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature
- Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation
- Structural and Functional Abnormalities of the Neuromuscular Junction in the Trembler-J Homozygote Mouse Model of Congenital Hypomyelinating Neuropathy
- The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement
- Tracing myelin protein zero (P0) in vivo by construction of P0-GFP fusion proteins
- Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome
- Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy