Ehlers-Danlos and hypermobility papers

The Ehlers-Danlos and hypermobility papers library is curated by Umbra- a freelance research librarian, who has a ko-fi people can donate to if you wish to support and continue the existence of this resource - please give what you can!

It is a collection of up to date research papers on subjects which you may find useful for doing your own studies. In addition, there is also some helpful instructions on several ways to gain access to any papers you may need.

If you have any questions about our library you should contact Umbra (available at umbrary@gmail.com). You can find her most up-to-date collection of papers on a google doc as this page is managed in periodic batches

This library currently contains 244 papers!

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Finding more 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- Dermatosparaxis type

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.