• A Case of Apoplexy Attack-Like Neuropathy due to Hereditary Neuropathy with Liability to Pressure Palsies in a Patient Diagnosed with Chronic Cerebral Infarction
• A comprehensive perspective of Huntington's disease and mitochondrial dysfunction
• A novel Xp11.22-22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy
• A severe case of Moebius syndrome with calcification on the fourth ventricular floor
• ARC Syndrome-Linked Vps33B Protein Is Required for Inflammatory Endosomal Maturation and Signal Termination
• Arthrogryposis syndrome (Kuskokwim disease) in the Eskimo
• Arthrogryposis, renal tubular dysfunction, cholestasis (ARC) syndrome: case report and review of the literature
• Autogenous bone graft for expansion thoracoplasty in Adam Robert Wright syndrome: a case report and review
• AUTOSOMAL DOMINANT MÜLLER CELL SHEEN DYSTROPHY: Clinical, Histopathologic, and Genetic Assessment in an Extended Family With Long Follow-Up
• Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility
• Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2
• Cerebro-oculo-facio-skeletal syndrome: further delineation
• Characterization of a 500-kb contig spanning the region between c-Ha-Ras and MUC2 on chromosome 11p15.5
• Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey
• Clinical and pathological aspects of ARC (arthrogryposis, renal dysfunction and cholestasis) syndrome in two siblings
• COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum
• Congenital idiopathic clubfoot deformities
• Corneal impairment in a patient with type 2 distal arthrogryposis
• De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy
• Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family
• Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders
• ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects
• Excessive mechanotransduction in sensory neurons causes joint contractures
• Exome Sequencing in an ADSHE Family: VUS Identification and Limits
• Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
• Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes
• Expanding the phenotypic variability of MORC2 gene mutations: From Charcot-Marie-Tooth disease to late-onset pure motor neuropathy
• Familial diseases revealed by a fetal anomaly
• Familial scleroderma-like deformity of the fingers
• Fetal infection with Schmallenberg virus - An experimental pathogenesis study in pregnant cows
• Fetuses and infants with Amyoplasia congenita in congenital Zika syndrome: The evidence of a viral cause. A narrative review of 144 cases
• Freeman-Sheldon syndrome--prenatal and postnatal diagnosis
• Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population
• German syndrome in sibs
• Hereditary neuropathy with liability to pressure palsies
• Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement
• Hydrops amnii in sheep associated with hydranencephaly and arthrogryposis with wesselsbron disease and rift valley fever viruses as aetiological agents
• Hyperexplexia
• Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence
• Identification of UBA1 as the causative gene of an X-linked non-Kennedy spinal-bulbar muscular atrophy
• Incidence of maxillofacial involvement in arthrogryposis multiplex congenita
• Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene
• Insight into evolution of a giant congenital nevomelanocytic nevus over 14 years
• Interstitial deletion 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalities
• Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy
• Isolated and combined genetic tremor syndromes: a critical appraisal based on the 2018 MDS criteria
• Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations
• Lethal nemalinic myopathy and congenital arthrogryposis
• Limb pterygium syndromes: a review and report of eleven patients
• Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome
• Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling
• Mid-trimester absent nasal bone and transient unilateral hydronephrosis associated with 16p13.3 microduplication
• Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
• Monosomy 21: a possible stepwise evolution of the karyotype
• Mutation In Fkbp10 Gene Cause Bruck Syndrome 1 (Brks1) In A Pakistani Family Of Pashtun Origin
• Mutations in ECEL1 cause distal arthrogryposis type 5D
• Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome
• Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
• Nemaline Myopathy – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
• New Insights of a Neuronal Peptidase DINE/ECEL1: Nerve Development, Nerve Regeneration and Neurogenic Pathogenesis
• New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene
• New syndrome of spondylospinal thoracic dysostosis with multiple pterygia and arthrogryposis
• Novel in-frame <em>FLNB</em> deletion causes Larsen syndrome in a three-generation pedigree
• Novel missense <em>WFS1</em> variant causing autosomal dominant atypical Wolfram syndrome
• Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome
• Otolaryngological manifestations of arthrogryposis multiplex congenita
• Oxytocin-based therapies for treatment of Prader-Willi and Schaaf-Yang syndromes: evidence, disappointments, and future research strategies
• Panorama of the distal myopathies
• Peripheral neuropathy in diabetes: it's not always what it looks like
• Physical functioning and activities of daily living in adults with amyoplasia, the most common form of arthrogryposis. A cross-sectional study
• PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review
• PIEZO2-related distal arthrogryposis type 5: Longitudinal follow-up of a three-generation family broadens phenotypic spectrum, complications, and health surveillance recommendations for this patient group
• Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis
• Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man
• Restrictive dermopathy: a rare laminopathy
• Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis
• Segregation of two variants suggests the presence of autosomal dominant and recessive forms of <em>WFS1</em>-related disease within the same family: expanding the phenotypic spectrum of Wolfram Syndrome
• Separating monosomy-21 from the "arthrogryposis basket"
• Surgical treatment for scoliosis associated with rare disease
• The 1960s epidemic of arthrogryposis multiplex congenita: a survey from the United Kingdom, Australia and the United States of America
• The heterogeneity of distal arthrogryposis
• The Molecular Genetics of Gordon Syndrome
• The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis
• The phenotype of the Gly94fsX222 PMP22 insertion
• The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B
• The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies
• Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities
• Trisomy of chromosome 18 in the baboon (Papio hamadryas anubis)
• Unilateral Congenital Knee and Hip Dislocation with Bilateral Clubfoot - A rare Packaging disorder
• Vps33b is crucial for structural and functional hepatocyte polarity
• Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations
• X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G&gt;A substitution in the UBA1 gene, expanding the phenotype
• XK-aprosencephaly and related entities