• "Mutation negative" familial cold autoinflammatory syndrome (FCAS) in an 8-year-old boy: clinical course and functional studies
• 6 years' experiences with the implantation of electric pacemaker
• A clinically relevant HIV-1 subunit vaccine protects rhesus macaques from in vivo passaged simian-human immunodeficiency virus infection
• A heated humidifier reduces upper airway dryness during continuous positive airway pressure therapy
• A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient
• Activation of caspase-3 in single neurons and autophagic granules of granulovacuolar degeneration in Alzheimer's disease. Evidence for apoptotic cell death
• Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis
• Anaplastic astrocytoma mimicking progressive multifocal leucoencephalopathy: a case report and review of the overlapping syndromes
• Antenatal Testing for Women With Preexisting Medical Conditions Using Only the Ultrasonographic Portion of the Biophysical Profile
• Antibodies to soluble CD4 in HIV-1-infected individuals
• Antibody signatures in patients with histopathologically defined multiple sclerosis patterns
• Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales
• Arthrogryposis multiplex congenita in a child with congenital fractures: a case report
• Benign pancreatic hyperenzymemia (Gullo syndrome), histamine intolerance, and carbohydrate malabsorption
• Bone collagen: new clues to its mineralization mechanism from recessive osteogenesis imperfecta
• Bruck syndrome
• Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation
• Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case
• Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contractures
• Bruck syndrome: osteogenesis imperfecta with congenital joint contractures
• Bruck syndrome: second antenatal diagnosis
• CD8⁺ T cell-mediated endotheliopathy is a targetable mechanism of neuro-inflammation in Susac syndrome
• Characterization of complications associated with open and endoscopic craniosynostosis surgery at a single institution
• Clinical and radiographic spectrum of pathologically confirmed tumefactive multiple sclerosis
• Clinical Characteristics and Treatment Outcomes of Children with Primary Osteoporosis
• COL1A1 and miR-29b show lower expression levels during osteoblast differentiation of bone marrow stromal cells from Osteogenesis Imperfecta patients
• Concentration-dependent effects of the esterase inhibitor BNPP on macrophage migration and myelin phagocytosis
• Concomitant Prevalence of Low Serum Diamine Oxidase Activity and Carbohydrate Malabsorption
• Correction to: Open-label pilot for treatment targeting gut dysbiosis in myalgic encephalomyelitis/chronic fatigue syndrome: neuropsychological symptoms and sex comparisons
• Current understanding of the pathophysiology of systemic juvenile idiopathic arthritis (sJIA) and target-directed therapeutic approaches
• Defective collagen fibril formation and mineralization in osteogenesis imperfecta with congenital joint contractures (Bruck syndrome)
• Difference in early development of presumed monozygotic twins with Rett syndrome
• Disentangling mechanisms involved in collagen pyridinoline cross-linking: The immunophilin FKBP65 is critical for dimerization of lysyl hydroxylase 2
• Do induced tachycardias within the scope of electrophysiological studies lead to elevated plasma troponin I levels?
• Does the 75SeHCAT test diagnose bile acid malabsorption?
• Evaluation of symptoms and symptom combinations in histamine intolerance
• Examining clinical similarities between myalgic encephalomyelitis/chronic fatigue syndrome and D-lactic acidosis: a systematic review
• Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage
• Fatal PML associated with efalizumab therapy: insights into integrin αLβ2 in JC virus control
• Fecal Calprotectin Elevations Associated with Food Intolerance/Malabsorption Are Significantly Reduced with Targeted Diets
• Fine analysis of humoral antibody response to envelope glycoprotein of SIV in infected and vaccinated macaques
• Fulminant course in a case of diffuse myelinoclastic encephalitis-- a case report
• Functional connectivity response to acute pain assessed by fNIRS is associated with BDNF genotype in fibromyalgia: an exploratory study
• Genomic structure and embryonic expression of zebrafish lysyl hydroxylase 1 and lysyl hydroxylase 2
• Good response to IL-1beta blockade by anakinra in a 23-year-old CINCA/NOMID patient without mutations in the CIAS1 gene. Cytokine profiles and functional studies
• Hypo-osmolal syndrome due to prolonged nausea
• IABP before cardiac surgery: clinical benefit compared to intraoperative implantation
• Identification and functional characterization of a novel mutation in the NKX2-1 gene: comparison with the data in the literature
• Immune correlates of protection from HIV infection and AIDS
• Immunological and pathological characterization of fatal rebound MS activity following natalizumab withdrawal
• Impact of the COVID-19 pandemic on cardiovascular mortality and catherization activity during the lockdown in central Germany: an observational study
• Incomplete protection, but suppression of virus burden, elicited by subunit simian immunodeficiency virus vaccines
• Intravenous immunoglobulin in children with Guillain-Barré syndrome
• Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants
• Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome
• Maraviroc and JC virus-associated immune reconstitution inflammatory syndrome
• Menkes' disease: case report
• Minimal Invasive Linea Alba Reconstruction for the Treatment of Umbilical and Epigastric Hernias with Coexisting Rectus Abdominis Diastasis
• Molecular insights into prolyl and lysyl hydroxylation of fibrillar collagens in health and disease
• Molecular Mechanisms of <em>Shigella</em> Pathogenesis; Recent Advances
• Mutation In Fkbp10 Gene Cause Bruck Syndrome 1 (Brks1) In A Pakistani Family Of Pashtun Origin
• Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta
• Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans
• Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome
• Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen
• Neurofibromatosis 1 associated with spinal muscular atrophy
• Nimesulide-induced hepatitis and acute liver failure
• Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients
• Novel Mutations in PLOD2 Cause Rare Bruck Syndrome
• Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta
• Open-label pilot for treatment targeting gut dysbiosis in myalgic encephalomyelitis/chronic fatigue syndrome: neuropsychological symptoms and sex comparisons
• Optic radiation damage in multiple sclerosis is associated with visual dysfunction and retinal thinning--an ultrahigh-field MR pilot study
• Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome
• Patatin-like phospholipase 3 (rs738409) gene polymorphism is associated with increased liver enzymes in obese adolescents and metabolic syndrome in all ages
• Pattern II and pattern III MS are entities distinct from pattern I MS: evidence from cerebrospinal fluid analysis
• Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review
• Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2
• Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome
• Plasma exchange therapy for steroid-unresponsive multiple sclerosis relapses: clinical experience with 16 patients
• Plasma HMGB1 levels and physical performance in ICU survivors
• Plasmapheresis for Management of Antiphospholipid Syndrome in the Neurosurgical Patient
• Presentation of Rare Phenotypes Associated with the <em>FKBP10</em> Gene
• Prevalence of hepatitis C virus infection in patients with lymphoproliferative disorders
• Prevention of vascular calcification by the endogenous chromogranin A-derived mediator that inhibits osteogenic transdifferentiation
• Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations
• Protection against lethal simian immunodeficiency virus SIVsmmPBj14 disease by a recombinant Semliki Forest virus gp160 vaccine and by a gp120 subunit vaccine
• Rapid and sustained remission of systemic juvenile idiopathic arthritis-associated macrophage activation syndrome through treatment with anakinra and corticosteroids
• Renal denervation: current state and future perspectives
• Rett syndrome: retrospective and prospective study of 28 patients
• Review of the contemporary literature on how children report sexual abuse to others: findings, methodological issues, and implications for forensic interviewers
• Schwann cell apoptosis in experimental autoimmune neuritis of the Lewis rat and the functional role of tumor necrosis factor-alpha
• Serum Diamine Oxidase Values, Indicating Histamine Intolerance, Influence Lactose Tolerance Breath Test Results
• Silicone implants and lymphoma: The role of inflammation
• Support for the microgenderome invites enquiry into sex differences
• The first case of Bruck syndrome associated with gastroschisis
• The role of short-term multilumen duodenojejunal manometry in patients with intestinal motor dysfunction
• Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study