Ehlers-Danlos and hypermobility papers

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Papers

Hypermobility- General

• (December 2020) Headaches in hypermobility syndromes: A pain in the neck?

• (July 2020) Hypermobile Ehlers-Danlos Syndromes: Complex Phenotypes, Challenging Diagnoses and Poorly Understood Causes. *

• (June 2019) Recognizing and Effectively Managing Hypermobility-Related Conditions.

• (June 2019) Characterizing adolescents with heavy menstrual bleeding and generalized joint hypermobility.

• (December 2018) Autism, Joint Hypermobility-Related Disorders and Pain.

• (December 2017) Contemporary approach to joint hypermobility and related disorders.

• (April 2017) Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type.

• (March 2017) A framework for the classification of joint hypermobility and related conditions.

• (February 2014) Orthopedic aspects of collagen disorders.

EDS- General

• (September 2020) Increased augmentation index in patients with Ehlers-Danlos syndrome.

• (June 2020) Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives.

• (January 2020) Arterial Elasticity in Ehlers-Danlos Syndromes.

• (October 2019) Resistance to local anesthesia in people with the Ehlers-Danlos Syndromes presenting for dental surgery.

• (April 2019) Treatment of the wide open wound in the Ehlers-Danlos syndrome.

• (March 2019) Use of prescription opioid and other drugs among a cohort of persons with Ehlers-Danlos syndrome: A retrospective study.

• (February 2019) Heritable disorders of connective tissue: description of a data repository and initial cohort characterization.

• (January 2019) Comparison of tetradecyl sulfate versus polidocanol injections for stabilisation of joints that regularly dislocate in an Ehlers-Danlos population.

• (December 2018) Hemostatic abnormalities in patients with Ehlers-Danlos syndrome.

• (November 2018) Quality improvement of clinic flow for complex genetic conditions: Using Ehlers–Danlos syndrome as a model.

• (October 2018) Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.

• (April 2018) Ehlers-Danlos syndromes and epilepsy: An updated review.

EDS - Classical type

• (October 2020) Classic Ehlers–Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1.

• (June 2020) Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility.

• (October 2019) Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant.

• (February 2019) Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome.

• (February 2019) Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients’ skin fibroblasts.

EDS - Hypermobility type

• (July 2019) An acquired or heritable connective tissue disorder? A review of hypermobile Ehlers Danlos Syndrome.

• (July 2019) Pain in hypermobile Ehlers-Danlos syndrome: New insights using new criteria.

• (June 2019) Oro-dental characteristics in patients with hypermobile Ehlers-Danlos Syndrome compared to a healthy control group.

• (May 2019) Predictors of pain and mobility disability in the hypermobile Ehlers-Danlos syndrome.

• (February 2019) Hypermobile type Ehlers‐Danlos syndrome associated with hypogammaglobulinemia and fibromyalgia: A case‐based review on new classification, diagnosis, and multidisciplinary management.

• (January 2019) Updates in Clinical and Genetics Aspects of Hypermobile Ehlers Danlos Syndrome.

• (September 2018) Mitral valve prolapse and aortic root dilation in adults with hypermobile Ehlers-Danlos syndrome and related disorders.

• (August 2018) Features that exacerbate fatigue severity in joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type.

• (December 2017) The natural history of children with joint hypermobility syndrome and Ehlers-Danlos hypermobility type: a longitudinal cohort study.

• 2017) A humanisation approach for the management of Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobility Type (JHS/EDS-HT).

• (March 2017) Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.

• (October 2016) Ehlers–Danlos Syndrome—Hypermobility Type: A Much Neglected Multisystemic Disorder.

• (December 2014) Autonomic symptom burden in the hypermobility type of Ehlers-Danlos syndrome: a comparative study with two other EDS types, fibromyalgia, and healthy controls.

EDS- Vascular type

• (November 2020) Current management of the vascular subtype of Ehlers-Danlos syndrome. *

• (June 2020) Vascular Ehlers-Danlos Syndrome: Literature review and surgical management of intracranial vascular complications.

• (November 2019) Trigeminal Autonomic Cephalalgias Manifested As The Only Initial Symptom Of Ehlers–Danlos Syndrome Type IV.

• (November 2019) Vascular Ehlers-Danlos syndrome: Can the beneficial effect of celiprolol be extrapolated to bisoprolol?

• (July 2019) Management of Colonic Complications of Type IV Ehlers Danlos Syndrome.

• (June 2019) Essential Fatty Acid Deficiency (EFAD) in a Patient with Vascular Ehlers Danlos Syndrome. (EDS-4) (P12-053-19)

• (May 2019) Natural history of gastrointestinal manifestations in vascular Ehlers-Danlos syndrome: A 17-year retrospective review. *

• (April 2019) Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study.

• (April 2019) Vascular Ehlers-Danlos Syndrome Management: The Paris Way, A Step Forward on a Long Road.

• (March 2019) Accuracy of Clinical Diagnostic Criteria for Patients With Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre.

• (March 2019) Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.

• (January 2019) Fragility of Life: Recurrent Intestinal Perforation Due to Vascular Ehlers-Danlos Syndrome.

• (October 2018) The Many Radiological Presentations of Pulmonary Nodules in Type IV Ehlers-Danlos Syndrome.

• (May 2018) Bowel perforation in type IV vascular Ehlers-Danlos syndrome. A systematic review.

• (April 2018) Vascular Ehlers-Danlos Syndrome Presenting as a Pulsatile Neck Mass: a Case Report and Review of Literature.

• (January 2018) Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.

EDS- Kyphoscoliosis type

• (July 2019) Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers-Danlos Syndrome.

• (May 2019) FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome.

• (June 2017) A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

EDS - Arthrochalsia type

• (May 2020) Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.*

• (August 2011) Ehlers-Danlos Arthrochalasia type (VIIA-B) – expanding the phenotype: from prenatal life through adulthood.

EDS- Tenascin-X Deficient type

• (March 2017) Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients. *

EDS- Periodontal type

• (December 2019) Two Different Missense C1S Mutations, Associated to Periodontal Ehlers-Danlos Syndrome, Lead to Identical Molecular Outcomes.

• (November 2019) C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome.

• (December 2018) Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy.

• (October 2018) High risk of peri‐implant disease in periodontal Ehlers–Danlos Syndrome. A case series.

• (October 2016) Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.

EDS- Spondylodysplastic

• (October 2019) Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.

• (October 2018) Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.

Genetics

• (July 2020) Recent Advances in the Molecular Biology of Systemic Mastocytosis: Implications for Diagnosis, Prognosis, and Therapy.

• (July 2020) Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups.

• (July 2020) Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing. *

• (July 2020) The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency.

• (May 2020) Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders.

• (December 2019) COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.

• (October 2019) Ehlers-Danlos syndrome-related genes and serum strontium, zinc, and lithium levels in generalized joint hypermobility: A case-control study.

• (July 2019) Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.

• (July 2019) Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases. *

• (June 2019) Measurement of Serum Tenascin-X in Joint Hypermobility Syndrome Patients.

• (June 2019) Ehlers-Danlos syndrome and other heritable connective tissue disorders that impact pregnancies can be detected using next-generation DNA sequencing.

• (March 2019) A novel role for the extracellular matrix glycoprotein‐Tenascin‐X in gastric function.

• (February 2019) Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome.

• (September 2018) The extracellular matrix glycoprotein tenascin‐X regulates peripheral sensory and motor neurones.

• (August 2018) FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.

• (May 2018) Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome.

• (March 2018) Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.

• (March 2018) Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1.

• (March 2018) COL1A1 Mutations Presenting as Descending Perineum Syndrome in a Young Patient With Hypermobility Syndrome.

• (June 2017) P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.

• (September 2016) A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome.

Reproductive Health

• (September 2020) Understanding hypermobile Ehlers-Danlos syndrome and Hypermobility Spectrum Disorders in the context of childbearing: An international qualitative study.

Quality of life

• (September 2020) Psychosocial Influence of Ehlers–Danlos Syndrome in Daily Life of Patients: A Qualitative Study.

• (August 2019) Symptom complaints and impact on functioning in youth with hypermobile Ehlers-Danlos syndrome.

• (July 2019) Understanding the psychosocial impact of joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type: a qualitative interview study.

• (July 2019) Flexible bodies-Restricted lives: A qualitative exploratory study of embodiment in living with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

• (September 2018) Pain and sleep quality in children with non-vascular Ehlers-Danlos syndromes.

• (October 2017) Subjective health complaints and illness perception amongst adults with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-HypermobilityType - a cross-sectional study.

• (December 2016) Disability in Adolescents and Adults Diagnosed With Hypermobility-Related Disorders: A Meta-Analysis.

Pharmacology- General

• (July 2020) Risperidone for the Management of Treatment-Resistant Anxiety in a Patient with Ehlers-Danlos Syndrome: A Case Report.

• (July 2018) Pharmacological resources, diagnostic approach and coordination of care in joint hypermobility-related disorders.

• (June 2018) Hypermobile Ehlers-Danlos syndrome and rehabilitation: taking stock of evidence based medicine: a systematic review of the literature. *

• (March 2015) The role of narrative medicine in the management of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

Comorbidity

• (December 2020) The Relationship between Autism and Ehlers-Danlos Syndromes/Hypermobility Spectrum Disorders. *

• (September 2020) Oral Conditions and Oral Health-Related Quality of Life of People with Ehlers-Danlos Syndromes (EDS): A Questionnaire-Based Cross-Sectional Study.

• (July 2020) Compressive Garments in Individuals with Autism and Severe Proprioceptive Dysfunction: A Retrospective Exploratory Case Series.

• (May 2020) The most common comorbidities in patients with Ehlers-Danlos syndrome: a 15-year nationwide population-based cohort study. *

• (August 2019) Urogenital and pelvic complications in the Ehlers-Danlos syndromes and associated hypermobility spectrum disorders: A scoping review.

• (July 2019) The Relationship Between Hypermobile Ehlers-Danlos Syndrome (hEDS), Postural Orthostatic Tachycardia Syndrome (POTS), and Mast Cell Activation Syndrome (MCAS).

• (March 2019) A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly.

• (February 2019) Prevalence of Obstructive Sleep Apnea in Joint Hypermobility Syndrome: A Systematic Review and Meta-Analysis.

• (August 2018) Association of Postural Tachycardia Syndrome and Ehlers-Danlos Syndrome with Mast Cell Activation Disorders.

• (August 2018) Clinical features of children, adolescents, and adults with coexisting hypermobility syndromes and von Willebrand disease.

• (July 2018) Mitral valve prolapse and aortic root dilation in adults with hypermobile Ehlers-Danlos syndrome and related disorders.

• (July 2018) Evaluation of Temporomandibular Disorders and Comorbidities in Patients with Ehler-–Danlos: Clinical and Digital Findings.

• (April 2018) Ehlers-Danlos syndromes and epilepsy: An updated review.

• (August 2017) Ehlers–Danlos hypermobility type in an adult with chronic pain and fatigue: a case study.

• (June 2017) Natural history of aortic root dilation through young adulthood in a hypermobile Ehlers-Danlos syndrome cohort.

• (March 2017) Chronic fatigue in Ehlers-Danlos syndrome-Hypermobile type.

• (February 2017) Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure?

• (September 2016) Nationwide population-based cohort study of celiac disease and risk of Ehlers-Danlos syndrome and joint hypermobility syndrome.

• (September 2015) Goose skin in a girl with Ehlers–Danlos syndrome.

• (August 2012) Joint hypermobility, obstetrical outcomes, and pelvic floor disorders.

Gastrointestinal issues

• (July 2020) Functional gastrointestinal disorders are increased in joint hypermobility-related disorders with concomitant postural orthostatic tachycardia syndrome.

• (July 2020) Colonoscopy is safe and not associated with higher pain scores in patients with hypermobility spectrum disorder: results from an exploratory prospective study.

• (April 2020) Prevalence and Predictors of Gastrointestinal Dysmotility in Patients with Hypermobile Ehlers-Danlos Syndrome: A Tertiary Care Center Experience.

• (February 2019) Joint Hypermobility Syndrome Affects Response to a Low Fermentable Oligosaccharide, Disaccharide, Monosaccharide and Polyol Diet in Irritable Bowel Syndrome Patients: A Retrospective Study.

• (July 2018) Gastrointestinal Symptoms in Marfan Syndrome and Hypermobile Ehlers-Danlos Syndrome

• (June 2018) Spectrum of Gastrointestinal Manifestations in Joint Hypermobility Syndromes.

• (August 2017) Gastrointestinal disorders in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type: A review for the gastroenterologist.

• (April 2015) Functional gastrointestinal disorders are associated with the joint hypermobility syndrome in secondary care: a case-control study.

• (March 2015) Gastrointestinal and nutritional issues in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

Diagnostics

• (April 2020) Does the item ‘hands on floor’ add value to the Beighton score in identifying joint hypermobility?

• (March 2020) Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers-Danlos syndrome clinic: A retrospective review. *

• (January 2020) Quantitative measures of tissue mechanics to detect hypermobile Ehlers-Danlos syndrome and hypermobility syndrome disorders: a systematic review. *

• (February 2020) Family history of associated disorders in patients with postural tachycardia syndrome.

• (August 2019) Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes.

• (July 2019) Underlying Ehlers-Danlos syndrome discovered during neuro-ophthalmic evaluation of concussion patients: a case series.

• (May 2019) Electron microscopy in the diagnosis of Ehlers-Danlos syndromes: correlation with clinical and genetic investigations.

• (April 2019) Gleno-humeral abduction measurement in patients with Ehlers-Danlos syndrome. *

• (July 2018) Association of Autonomic Nervous System Abnormalities on Head-Up Tilt Table Test with Joint Hypermobility.

• (June 2018) The Upper Limb Hypermobility Assessment Tool: A novel validated measure of adult joint mobility.

• (November 2017) Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.

• (March 2017) The 2017 international classification of the Ehlers-Danlos syndromes.

• (July 2016) Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes.

• (June 2015) Diagnosis, Management and Assessment of Adults with Joint Hypermobility Syndrome: A UK-Wide Survey of Physiotherapy Practice.

• (March 2015) Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. *

• (March 2015) The neuromuscular differential diagnosis of joint hypermobility.

• (December 2014) Vascular Ehlers-Danlos Syndrome Without the Characteristic Facial Features - A Case Report.

Bone And Joint Health/Structure

• (December 2020) Pelvic Girdle Pain, Hypermobility Spectrum Disorder and Hypermobility-Type Ehlers-Danlos Syndrome: A Narrative Literature Review.

• (April 2020) Bone Disease in Patients with Ehlers-Danlos Syndromes.

• (February 2020) Gait biomechanics in joint hypermobility syndrome: a spatiotemporal, kinematic and kinetic analysis. *

• (February 2019) Skeletal fragility: an emerging complication of Ehlers-Danlos syndrome.

• (January 2020) Arterial Elasticity in Ehlers-Danlos Syndromes. *

• (January 2019) Comparison of tetradecyl sulfate versus polidocanol injections for stabilisation of joints that regularly dislocate in an Ehlers-Danlos population. *

• (June 2018) Clinical Relevance of Joint Hypermobility and Its Impact on Musculoskeletal Pain and Bone Mass.

• (June 2018) Slipping Rib Syndrome: A review of evaluation, diagnosis and treatment.

• (August 2016) Bone involvement in adult patients affected with Ehlers-Danlos syndrome.

• (June 2015) The effects of neuromuscular taping on gait walking strategy in a patient with joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type.

• (November 2013) Do people with benign joint hypermobility syndrome (BJHS) have reduced joint proprioception? A systematic review and meta-analysis.

• (August 2011) Impact of joint laxity and hypermobility on the musculoskeletal system.

Psychological variables

• (July 2019) Pain and gastrointestinal dysfunction are significant associations with psychiatric disorders in patients with Ehlers-Danlos syndrome and hypermobility spectrum disorders: a retrospective study.

• (May 2018) Low- and high-anxious hypermobile Ehlers-Danlos syndrome patients: comparison of psychosocial and health variables.

• (March 2018) A Cohort Study Comparing Women with Autism Spectrum Disorder with and without Generalized Joint Hypermobility.

• (June 2015) Emotion processing in joint hypermobility: A potential link to the neural bases of anxiety and related somatic symptoms in collagen anomalies.

• (March 2015) Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers-Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised.

• (January 2015) Joint hypermobility and the heritable disorders of connective tissue: clinical and empirical evidence of links with psychiatry.

• (January 2014) The relationship between benign joint hypermobility syndrome and psychological distress: a systematic review and meta-analysis.

Neurology

• (August 2018) Application of immunotherapy for neurological manifestations in hypermobile Ehlers–Danlos syndrome.

• (September 2017) Generalised joint hypermobility and neurodevelopmental traits in a non-clinical adult population.

• (March 2015) Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type: Update and perspectives.

• (October 2014) Neurological manifestations of Ehlers-Danlos syndrome(s): A review.

Pain Management

• (September 2020) Pain due to Ehlers-Danlos Syndrome Is Associated with Deficit of the Endogenous Pain Inhibitory Control.

• (September 2020) Pain Symptomatology and Management in Pediatric Ehlers-Danlos Syndrome: A Review.

• (August 2020) Use of complementary therapies for chronic pain management in patients with reported Ehlers-Danlos syndrome or hypermobility spectrum disorders.

• (July 2020) Ehlers-Danlos Syndrome and Hypermobility Syndrome Compared with Other Common Chronic Pain Diagnoses-A Study from the Swedish Quality Registry for Pain Rehabilitation.

• (January 2018) Cognitive, emotional, and behavioral considerations for chronic pain management in the Ehlers-Danlos syndrome hypermobility-type: a narrative review.

• (December 2016) Anesthetic Management of a Patient With Ehlers-Danlos Syndrome.

• (September 2016) Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

• (August 2015) Chronic pain in hypermobility syndrome and Ehlers–Danlos syndrome (hypermobility type): it is a challenge.

• (June 2015) Chronic pain in patients with the hypermobility type of Ehlers-Danlos syndrome: evidence for generalized hyperalgesia.

• (March 2015) Connective tissue, Ehlers-Danlos syndrome(s), and head and cervical pain.

Exercise/Rehabilitation

• (September 2020) Surgical Management of Shoulder and Knee Instability in Patients with Ehlers-Danlos Syndrome: Joint Hypermobility Syndrome.

• (April 2020) Does muscle strength change over time in patients with hypermobile Ehlers-Danlos syndrome/ Hypermobility Spectrum Disorder? An 8-year follow-up study. *

• (February 2020) Structured Rehabilitation Program for Multidirectional Shoulder Instability in a Patient with Ehlers-Danlos Syndrome.

• (November 2019) High Prevalence of Connective Tissue Gene Variants in Professional Ballet.

• (June 2019) The effect of five isometric exercises on glenohumeral translations in healthy subjects and patients with the hypermobility type of the ehlers-danlos syndrome (heds) or hypermobility spectrum disorder (hsd) with multidirectional shoulder instability: an observational study.

• (March 2019) Inspiratory muscle strength training improves lung function in patients with the hypermobile Ehlers-Danlos syndrome: A randomized controlled trial.

• (February 2019) Exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type.

• (January 2018) Experiences and attitudes about physical activity and exercise in patients with chronic pain: a qualitative interview study.

• (November 2017) Exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type.

• (September 2017) Effects of spinal stabilization exercises in women with benign joint hypermobility syndrome: a randomized controlled trial. *

• (August 2015) How do people with chronically painful joint hypermobility syndrome make decisions about activity?

• (July 2015) Functional adaptation of tendon and skeletal muscle to resistance training in three patients with genetically verified classic Ehlers Danlos Syndrome.

• (September 2014) The effectiveness of therapeutic exercise for joint hypermobility syndrome: a systematic review.

• (July 2014) Physiotherapy and occupational therapy interventions for people with benign joint hypermobility syndrome: a systematic review of clinical trials.

POTS

• (December 2020) Cerebral Blood Flow and Cognitive Performance in Postural Tachycardia Syndrome: Insights from Sustained Cognitive Stress Test. *

• (November 2020) Mechanisms and management of gastrointestinal symptoms in postural orthostatic tachycardia syndrome.

• (October 2020) Postural Orthostatic Tachycardia Syndrome Misdiagnosed as Anxiety: A Case Report with a Review of Therapy and Pathophysiology.

• (October 2020) Postural Tachycardia Syndrome: Nutrition Implications. *

• (September 2020) Attention and executive function are impaired during active standing in postural tachycardia syndrome.

• (August 2020) Treatment of Postural Orthostatic Tachycardia Syndrome With Medication: A Systematic Review. *

• (July 2020) Involuntary emotional expression disorder in postural tachycardia syndrome.

• (July 2020) A new insight on postural tachycardia syndrome in 102 adults with hypermobile Ehlers-Danlos Syndrome/hypermobility spectrum disorder.

• (June 2020) Functional capacity and quality of life in the postural tachycardia syndrome: A retrospective cross-sectional study.

• (June 2020) Brain fog in postural tachycardia syndrome: An objective cerebral blood flow and neurocognitive analysis.

• (June 2020) The Relationship Between Hypermobile Ehlers-Danlos Syndrome (hEDS), Postural Orthostatic Tachycardia Syndrome (POTS), and Mast Cell Activation Syndrome (MCAS).

• (May 2020) Postural Orthostatic Tachycardia Syndrome (POTS): A critical assessment.

• (January 2020) Prevalence of hypermobile Ehlers-Danlos syndrome in postural orthostatic tachycardia syndrome.

• (August 2019) Clinical neurophysiology of postural tachycardia syndrome.

• (October 2018) Postural Tachycardia Syndrome (POTS) and the GI Tract: A Primer for the Gastroenterologist.

• (August 2018) Gastrointestinal symptoms in postural tachycardia syndrome: a systematic review.

• (July 2018) Postural Orthostatic Tachycardia Syndrome: Prevalence, Pathophysiology, and Management.

• (June 2018) Activity and Exercise Intolerance After Concussion: Identification and Management of Postural Orthostatic Tachycardia Syndrome.

• (April 2018) Evaluation of postural tachycardia syndrome (POTS).

• (March 2018) Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome.

• (December 2017) Postural tachycardia syndrome: current perspectives.

• (December 2017) Postural tachycardia in hypermobile Ehlers-Danlos syndrome: A distinct subtype?

Mastocytosis / MCAS

• (July 2020) The impact of psychological stress on mast cells

• (June 2020) Mast cell activation syndromes - evaluation of current diagnostic criteria and laboratory tools in clinical practice. (Review)

• (June 2020) Recent Advances in the Molecular Biology of Systemic Mastocytosis: Implications for Diagnosis, Prognosis, and Therapy.

• (June 2020) Risk and management of patients with mastocytosis and MCAS in the SARS-CoV-2 (COVID-19) pandemic: Expert opinions.

• (April 2020) Mast Cell Activation Syndrome: A Primer for the Gastroenterologist.

• (March 2020) The Utility of Measuring Urinary Metabolites of Mast Cell Mediators in Systemic Mastocytosis and Mast Cell Activation Syndrome.

• (January 2020) An increased bone mineral density is an adverse prognostic factor in patients with systemic mastocytosis.

• (July 2019) Systemic mastocytosis with normal serum tryptase; rule or exception?

• (June 2019) Recognition and Management of Medication Excipient Reactivity in Patients With Mast Cell Activation Syndrome.

• (June 2019) Recent advances in our understanding of mast cell activation - or should it be mast cell mediator disorders? (73 PAGES!) *

• (June 2019) Why the 20% + 2 Tryptase Formula Is a Diagnostic Gold Standard for Severe Systemic Mast Cell Activation and Mast Cell Activation Syndrome. *

• (June 2019) Multidisciplinary Challenges in Mastocytosis and How to Address with Personalized Medicine Approaches.

• (May 2019) PD-L1 Expression in Mastocytosis.

• (May 2019) Gastrointestinal Mastocytosis: A Potential Diagnostic Pitfall to Be Aware.

• (April 2019) Doctor, I Think I Am Suffering from MCAS: Differential Diagnosis and Separating Facts from Fiction. *

• (April 2019) Everyday life and mastocytosis from a patient perspective-a qualitative study.

• (April 2019) Mast Cell Activation Syndrome and Mastocytosis: Initial Treatment Options and Long-Term Management. *

• (March 2019) World Health Organization class-independent risk categorization in mastocytosis.

• (March 2019) Systemic mastocytosis in adults: 2019 update on diagnosis, risk stratification and management. *

• (March 2019) Indolent systemic mastocytosis mimicking Crohn’s disease.

• (December 2018) Mast Cells as Key Players in Allergy and Inflammation.

• (December 2018) Cutaneous mastocytosis treatment: strategies, limitations and perspectives.

• (August 2018) The Mastocytosis Society Survey on Mast Cell Disorders: Part 2-Patient Clinical Experiences and Beyond. *

• (January 2014) The Mastocytosis Society survey on mast cell disorders: patient experiences and perceptions.

Tenascins

• (December 2020) The Roles of Tenascins in Cardiovascular, Inflammatory, and Heritable Connective Tissue Diseases. *

Professional Resources & Patient Care

• (October 2020) Setting a research agenda for vascular Ehlers-Danlos syndrome using a patient and stakeholder engagement model.