• A Case of a Newborn With Nemaline Myopathy From Al-Qunfudhah City, Saudi Arabia
• A case of restrictive dermopathy in a Hutterite newborn: Diagnosis and creative skin-directed management
• A Case Report: Can Prioritizing Sensory Integration Therapy Help Improve Gross Motor Function in a Rare Case of Neurogenic Arthrogryposis Multiplex Congenita?
• A mutation in F-actin polymerization factor suppresses the distal arthrogryposis type 5 PIEZO2 pathogenic variant in Caenorhabditis elegans
• A Neuromuscular Perspective: Why Craniofacial Surgeons/Researchers Need to be Aware of Native American Myopathy?
• A novel compound heterozygous variant of <em>ECEL1</em> induced joint dysfunction and cartilage degradation: a case report and literature review
• A novel missense variant in OTUD5 causes X-linked multiple congenital anomalies-neurodevelopmental syndrome
• A novel RYR1 pathogenic variant - Common among Libyan Jews and associated with a broad phenotypic spectrum
• A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly
• A retrospective study on the correction of distal arthrogryposis with a progressive extension brace
• Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases
• Alteration of actin cytoskeletal organisation in fetal akinesia deformation sequence
• An outbreak of Akabane disease in a cattle herd on the Mughan plain, Iran
• An Unusual Presentation of Membranous Nephropathy in an Adult With Arthrogryposis: A Case Report
• Arthrogryposis Multiplex Congenita and the Importance of Orthoses: A Case Report
• Arthrogryposis multiplex congenita causing hypercapnic respiratory failure and airway obstruction in an adult patient
• Arthrogryposis multiplex congenita: dental and maxillofacial phenotype - A scoping review
• Arthrogryposis, renal dysfunction, cholestasis syndrome with a novel mutation in two siblings
• Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis
• Biallelic truncating TTN variants in M-band encoding exons cause a fetal lethal titinopathy
• Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth
• Bilateral Sprengel Deformities, Mirror Movements Synkinesis, and Arthrogryposis Multiplex Congenita: A Novel Combination
• Bone mineral density in adults with arthrogryposis multiplex congenita: a retrospective cohort analysis
• Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in <em>PARD6G-AS1</em> promotor in a case with arthrogryposis
• Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis
• Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures
• Clinical and molecular genetic characteristics of 24 families of hereditary neuropathy with liability to pressure palsy and literature review
• Clinical spectrum of congenital Zika virus infection in Brazil: Update and issues for research development
• Common data elements for arthrogryposis multiplex congenita: An international framework
• Complex neural tube and skeletal malformations, resembling Chiari malformations, in two calves
• Compound heterozygous variants in MYBPC1 lead to severe distal arthrogryposis type-1 manifestations
• Congenital Contractures and Fractures: A Variant of Bruck Syndrome Type 2
• Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia
• Distal Arthrogryposis with Impaired Proprioception and Touch: A Novel Variant in PIEZO2 Gene in Omani Patients and a Genotype-Phenotype Review from a Single-Center Experience
• DISTAL FEMUR HEMIEPIPHYSIODESIS IN KNEE RECURVATUM: A NEW SURGICAL TECHNIQUE
• Early Diagnosis and Management of Arthrogryposis Multiplex Congenita in a Neonate: A Case Study
• Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?
• ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant
• Effectiveness of the Ponseti method for congenital clubfoot in patients with arthrogryposis: A systematic review and meta-analysis of observational studies
• EVALUATION OF ARTHROGRYPOTIC FOOT TREATMENT: MINIMUM 10 YEARS FOLLOW-UP
• Expansion of the phenotypic spectrum of KARS1-related disorders to include arthrogryposis multiplex congenita and summary of experiences with lysine supplementation
• Foetal Akinesia Deformation Sequence: A Rare Lethal Entity
• Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B)
• Functional Independence of Children With Arthrogryposis
• Genotype-Phenotype Correlations and Sex Differences in ZC4H2-Associated Rare Disorder
• Hereditary Neuropathy with Liability to Pressure Palsy and Vocal Cord Paralysis After Pulmonary Lobectomy: A Case Report
• Heterogenic Genetic Background of Distal Arthrogryposis-Review of the Literature and Case Report
• Homologous mutations in human β, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation
• Identification of four TTN variants in three families with fetal akinesia deformation sequence
• Identification of gene signatures and molecular mechanisms underlying the mutual exclusion between psoriasis and leprosy
• Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants
• Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies
• Long-term Outcomes of Surgically Treated Congenital Dislocation of the Knee
• Management and outcome of fetal abdominal cysts in first trimester: systematic review of the literature
• MET is a new confirmed gene responsible for familial distal arthrogryposis
• Minimally Invasive Method for Treatment of Syndromic Congenital Vertical Talus Deformity in Children
• Morphological and functional cardiac alterations in children with congenital Zika syndrome and severe neurological deficits
• Multiple Pterygium Syndrome (Escobar Syndrome): A Rare Form of Prenatal Myasthenia Presenting With Arthrogryposis Multiplex Congenita
• Multiple Serial Casting for Recurrent Clubfoot in Arthrogryposis Corrects Deformity With Diminishing Returns
• Muscular phenotype description of abnormal THOC2 splicing
• Musculocontractural type of Ehlers-Danlos syndrome with novel CHST14 pathogenic variant in two siblings
• Myasthenia gravis-Gender aspects and family planning
• Nerve Transfers in Children with Non-traumatic Amyoplasia
• Nerventransfers bei Kindern mit nicht traumatischer AmyoplasieNerve Transfers in Children with Non-traumatic Amyoplasia
• Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype
• New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder
• Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3
• Novel variant in ACTA1 identified in a fetus with akinesia deformation sequence and cortical development delay
• Open reduction for hip dislocation in children with arthrogryposis multiplex congenital: Outcomes of a systematic review
• Outcomes of Ponseti Method for the Treatment of Clubfeet in Children With Arthrogryposis
• Pathogenic <em>TNNI1</em> variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
• Perinatal outcomes of pregnancies following autologous cryopreserved ovarian tissue transplantation: a systematic review with pooled analysis
• Poisonings in ruminants by Cenostigma pyramidale (Tul.) Gagnon &amp; G.P.Lewis (Fabaceae): A mini-review of teratogenic potential and phytochemical evidence
• Pregnancy in myasthenia gravis: a retrospective analysis of maternal and neonatal outcome from a large tertiary care centre in Germany
• Prenatal diagnosis (or lack thereof) of arthrogryposis multiplex congenita and its impact on the perinatal experience of parents: A retrospective survey
• Prenatal diagnosis of Freeman-Sheldon syndrome using ultrasound and genetic testing. Case report
• Presentation of Rare Phenotypes Associated with the <em>FKBP10</em> Gene
• Pterygium Syndrome
• Replication of Akabane virus and related orthobunyaviruses in a fetal-bovine-brain-derived cell line
• SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?
• Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series
• Sheep abortions associated with Neospora caninum and Toxoplasma gondii infections in multiple flocks from Southern Brazil
• Simple Talectomy is a Beneficial Surgical Procedure for Talipes Equinovarus and Other Severe Neuromuscular Foot Deformities
• STAC3 disorder: a common cause of congenital hypotonia in Southern African patients
• STAC3-related myopathy: A Report of a Cohort of Seven Saudi Arabian Patients
• Study of Akabane disease in an Iranian dairy herd: a re-emerging disease
• Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome
• Synthetic suture tape for medial patellofemoral ligament reconstruction is an effective treatment for complex paediatric patellofemoral instability
• Targeting PI3K/Akt/mTOR signaling in rodent models of PMP22 gene-dosage diseases
• The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature
• The experience of caregiving for children with rare musculoskeletal conditions: a qualitative study in arthrogryposis multiplex congenita
• The Human Phenotype Ontology in 2024: phenotypes around the world
• The Intrarater and Interrater Reliability of the OMT Classification Among Physicians With a Different Background
• The science of uncertainty guides fetal-neonatal neurology principles and practice: diagnostic-prognostic opportunities and challenges
• TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations
• Two Novel Variants Associated with Brain Abnormalities in Clinical Suspicion of Arthrogryposis and Similar Phenotype in Three Children: Challenges in Offering Prenatal Diagnosis
• Two Novel Variants in <em>PI4KA</em> in a Family Presenting With Hereditary Spastic Paraparesis: A Case Report
• Unlocking the Role of sMyBP-C: A Key Player in Skeletal Muscle Development and Growth
• Whole-exome-based single nucleotide variants and copy number analysis for prenatal diagnosis of compound heterozygosity of SMPD4
• Why Craniofacial Surgeons/Researchers Need to be Aware of Native American Myopathy?