Disease: Neuropathy- congenital- with arthrogryposis multiplex
- <em>CNTNAP1</em> Mutations and Their Clinical Presentations: New Case Report and Systematic Review
- A case of congenital spinal muscular atrophy with pain due to a mutation in TRPV4
- A distinct congenital motor and sensory neuropathy (neuronal type) with dysmorphic features in a father and two sons. A variant of Charcot-Marie-Tooth disease
- A new form of congenital proprioceptive sensory neuropathy associated with arthrogryposis multiplex
- Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis
- Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles
- Arthrogryposis multiplex congenita with posterior column degeneration and peripheral neuropathy: a case report
- Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis
- Characteristic clinical and ultrastructural findings in nesprinopathies
- Clinical implications of peripheral myelin protein 22 for nerve compression and neural regeneration: a review
- CNTNAP1-Related Congenital Hypomyelinating Neuropathy
- CONDUCTION VELOCITY OF MOTOR NERVES IN INFANTS AND CHILDREN
- Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita
- Congenital non-progressive peripheral neuropathy with arthrogryposis multiplex
- Effect of Intrathecal Baclofen on Delayed-Onset Paroxysmal Dystonia due to Compression Injury Resulting From Congenital and Progressive Spinal Bone Deformities in Chondrodysplasia Punctata
- Electromyography (EMG) accuracy compared to muscle biopsy in childhood
- Elements of myo- and neuropathies in congenital foot deformities
- Experience in molecular diagnostic in hereditary neuropathies in a pediatric tertiary hospital
- Freeman-Sheldon (whistling face) syndrome with hyperpyrexia in the newborn: case report
- Homozygous TRPV4 Mutation Broadens the Phenotypic Spectrum of Congenital Spinal Muscular Atrophy and Arthrogryposis: A Case Report
- Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
- Lissencephaly associated with congenital hypomyelinating and axonal neuropathy
- Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene
- Paralytic deformities of the lower limb
- Phenotype and genotype correlation in childhood spinal muscular atrophy
- Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2
- Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy
- Phenotypic variability of TRPV4 related neuropathies
- Prenatal diagnosis of arthrogryposis multiplex congenita with increased nuchal translucency but without any underlying fetal neurogenic or myogenic pathology
- Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy
- Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy
- Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy
- Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation
- Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature
- Similar Cognitive Skill Impairment in Children with Upper Limb Motor Disorders Due to Arthrogryposis Multiplex Congenita and Obstetrical Brachial Plexus Palsy
- The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations
- The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
- The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)
- The emerging spectrum of foetal acetylcholine receptor antibody-associated disorders (FARAD)
- The heterogeneity of distal arthrogryposis
- The pathogenesis of fetal hypokinesia. A neurological study of 75 cases of congenital contractures with emphasis on cerebral lesions
- Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy