• A child diagnosed with rigid spine syndrome complicated by ventilatory disorders: a nursing case report
• A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy
• A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report
• A patient of Charcot-Marie-tooth disease with rigid spine and respiratory failure
• A Roma founder <em>BIN1</em> mutation causes a novel phenotype of centronuclear myopathy with rigid spine
• Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene
• Anaesthetic implications of rigid spine syndrome
• Anesthesia for Cesarean delivery in a parturient with rigid spine syndrome
• Arthrodesis versus dynamic neutralization: A short/mid- and long-term retrospective evaluation in degenerative disk disease treatment
• Assessment of Clinical Decision Support System Efficiency in Spinal Neurosurgery for Personalized Minimally Invasive Technologies Used on Lumbar Spine
• Atypical phenotype in two patients with LAMA2 mutations
• BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease
• C2 translaminar screw fixation in pediatric occipitocervical fusion
• Can C1 lateral mass and C3 pedicle screw fixation be used as an option for atlantoaxial reduction and stabilization in Klippel-Feil patients? A study of its morphological feasibility, technical nuances, and clinical efficiency
• Cardiac findings in congenital muscular dystrophies
• Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy
• Case report: Early-onset Parkinson's disease with initial spastic paraparesis and hyperreflexia caused by compound heterozygous <em>PRKN</em>-gene exon 2 and 4 deletions
• Case Report: Posterolateral Epidural Supra-C2-Root Approach (PESCA) for Biopsy of a Retro-Odontoid Lesions in Same Sitting After Occipitocervical Fixation and Decompression in a Case of Crowned Dens Syndrome With Brainstem Compression and Displacement
• Changes in sagittal balance and pre-existing junctional angle influence development of proximal junctional kyphosis in growth guidance systems for early-onset scoliosis
• Clinical and electroencephalogram characteristics and treatment outcomes in children with benign epilepsy and centrotemporal spikes
• Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)
• Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene
• Comparison of clinical and radiological results of dynamic and rigid instrumentation in degenerative lumbar spinal stenosis
• Congenital Cervical Spinal Deformities
• Congenital muscular dystrophies
• Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study
• Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects
• Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives
• Congenital myopathy presenting as recurrent pneumonia with lung collapse and pulmonary artery hypertension
• Consequences of mutations within the C terminus of the FHL1 gene
• Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation
• Core myopathies
• Correction of pediatric cervical kyphosis with standalone posterior approach-a single-center experience of seven cases
• Correlation between thigh muscle magnetic resonance imaging findings and clinical features of congenital muscular dystrophies: a preliminary study
• Developing consensus for the management of pediatric cervical spine disorders and stabilization: a modified Delphi study
• Diagnostic orientation of « Rigid spine » familial case with whole body muscle MRI
• Dysferlinopathies
• Dysferlinopathy associated with rigid spine syndrome
• Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emerin expression
• Evaluation of long-term clinical outcomes and the incidence of adjacent proximal segment degenerative disease with algorithmic transforaminal interbody fusion: A multicenter prospective study
• Familial adult-onset Pompe disease associated with unusual clinical and histological features
• Fhl1 W122S causes loss of protein function and late-onset mild myopathy
• FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy
• Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome
• Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer
• Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes
• Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
• Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome
• Late onset Pompe disease mimicking rigid spine syndrome
• Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes
• Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report
• Multiminicore disease with respiratory failure
• Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy
• Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine
• Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity
• Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome
• Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies
• New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure
• Novel DYSF mutations in Thai patients with distal myopathy
• Parkinsonism-Plus Syndrome Secondary to Neurosyphilis: Case Report and Literature Review
• Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients
• Presence of emerinopathy in cases of rigid spine syndrome
• Primary neurogenic and myogenic disorders of posture
• RCC (reinforced criss-cross construct): an easy and effective multi-rod thoraco-lumbar posterior reconstruction technique
• Reducing body myopathy and other FHL1-related muscular disorders
• Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy
• Response to botulinum toxin in a case of rigid spine syndrome
• Rigid spinal muscular dystrophy and rigid spine syndrome: report of 7 children
• Rigid spine congenital muscular dystrophy produced by SEPN1 mutations (RSMD1)
• Rigid Spine Muscular Dystrophy Type 1 Presenting with Neck Tilt
• Rigid spine syndrome (vacuolar variant). A quantitative electromyograhic study
• Rigid Spine Syndrome among Children in Oman
• Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement
• Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1)
• Rigid spine syndrome revealing late-onset Pompe disease
• Rigid spine syndrome with chronic respiratory failure
• Rigid spine syndrome with fiber type disproportion
• Rigid spine syndrome: a noninvasive cardiac evaluation
• Rigid spine syndrome: a radiologic and manometric study of the pharynx and esophagus
• Rigid spine syndrome: vacuolar variant multimodal evoked potentials
• Rigid spine syndrome. Case report
• Rigid spine syndrome. Two case-reports
• Rimmed vacuoles in facioscapulohumeral muscular dystrophy: a unique ultrastructural feature
• Scoliosis correction in an adolescent with a rigid spine syndrome: case report
• Screening for late-onset Pompe disease in Poland
• SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness
• SEPN1 Related Myopathy Presenting as Chronic Respiratory Insufficiency
• SEPN1-related Rigid Spine Muscular Dystrophy
• Septal Extension Graft in Increasing Nasal Tip Projection
• Severe Case of Oral Baclofen Withdrawal Resulting in Mechanical Ventilation
• Siblings with Proximal Muscle Weakness-Rigid Spine Is the Clue!
• SLIMMER (FHL1B/KyoT3) interacts with the proapoptotic protein Siva-1 (CD27BP) and delays skeletal myoblast apoptosis
• Staged Corrective Surgery for a Patient With Sagittal Malalignment Related to Noonan Syndrome: A Case Report
• Surgical Management of Thoracolumbar Scoliosis Secondary to Hip Joint Ankylosis and Severe Pelvic Obliquity
• Targeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1
• The Autism Spectrum: Behavioral, Psychiatric and Genetic Associations
• The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes
• The myotubularin-desmin complex regulates mitochondria dynamics
• Toward deconstructing the phenotype of late-onset Pompe disease
• Whole body muscle MRI protocol: pattern recognition in early onset NM disorders