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Current and Future Treatments in Primary Ciliary Dyskinesia

International journal of molecular sciences, 2021-09, Vol.22 (18), p.9834

2021

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European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

The European respiratory journal, 2017-01, Vol.49 (1), p.1601090-1601090

2017

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Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex

American journal of human genetics, 2015-10, Vol.97 (4), p.546-554

2015

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Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

American journal of human genetics, 2012-10, Vol.91 (4), p.672-684

2012

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SPEF2- and HYDIN -Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics

American journal of respiratory cell and molecular biology, 2020-03, Vol.62 (3), p.382-396

2020

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An international registry for primary ciliary dyskinesia

The European respiratory journal, 2016-03, Vol.47 (3), p.849-859

2016

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Multiple breath washout and oscillometry after allogenic HSCT: a scoping review

European respiratory review, 2023-09, Vol.32 (169), p.220251

2023

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The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

Nature genetics, 2011-01, Vol.43 (1), p.79-84

2011

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The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results

The European respiratory journal, 2017-01, Vol.49 (1), p.1601181-1601181

2017

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Exhaled breath analysis using electronic nose in cystic fibrosis and primary ciliary dyskinesia patients with chronic pulmonary infections

PloS one, 2014-12, Vol.9 (12), p.e115584-e115584

2014

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A systematic literature review of the clinical and socioeconomic burden of bronchiectasis

European respiratory review, 2024-07, Vol.33 (173), p.240049

2024

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The single-breath diffusing capacity of CO and NO in healthy children of European descent

PloS one, 2014-12, Vol.9 (12), p.e113177-e113177

2014

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Quantitative 99mTc-albumin colloid nasal mucociliary clearance as an outcome in primary ciliary dyskinesia

ERJ open research, 2023-09, Vol.9 (5)

2023

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Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force

Orphanet journal of rare diseases, 2023-05, Vol.18 (1), p.109-109, Article 109

2023

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Characteristics and impact of exercise-induced laryngeal obstruction: an international perspective

ERJ open research, 2021-04, Vol.7 (2), p.195

2021

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Pulmonary radioaerosol mucociliary clearance assessment: searching for genotype-specific differences and potential as an outcome measure in primary ciliary dyskinesia

ERJ open research, 2023-11, Vol.9 (6), p.685

2023

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The effect of time-of-day and chest physiotherapy on multiple breath washout measures in children with clinically stable cystic fibrosis

PloS one, 2018-01, Vol.13 (1), p.e0190894-e0190894

2018

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Correction: The Single-Breath Diffusing Capacity of CO and NO in Healthy Children of European Descent

PloS one, 2017-06, Vol.12 (6), p.e0179097-e0179097

2017

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Plethysmographic Measurements of Specific Airway Resistance in Young Children

Chest, 2005-07, Vol.128 (1), p.355-362

2005

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Registries and collaborative studies for primary ciliary dyskinesia in Europe

ERJ open research, 2020-04, Vol.6 (2), p.5

2020

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Motile ciliopathies

Nature reviews. Disease primers, 2020-09, Vol.6 (1), p.77-77, Article 77

2020

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Discriminative Capacity of Bronchodilator Response Measured with Three Different Lung Function Techniques in Asthmatic and Healthy Children Aged 2 to 5 Years

American journal of respiratory and critical care medicine, 2001-08, Vol.164 (4), p.554-559

2001

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Turning lung clearance index on its head. Reference data for SF 6 multiple-breath washout derived ventilation distribution efficiency

Journal of applied physiology (1985), 2023-02, Vol.134 (2), p.316-327

2023

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Nationwide lung function monitoring from infancy in newborn-screened children with cystic fibrosis

ERJ open research, 2023-09, Vol.9 (5), p.317

2023

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Current and Future Treatments in Primary Ciliary Dyskinesia

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex

Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

SPEF2- and HYDIN -Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics

An international registry for primary ciliary dyskinesia

Multiple breath washout and oscillometry after allogenic HSCT: a scoping review

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results

Exhaled breath analysis using electronic nose in cystic fibrosis and primary ciliary dyskinesia patients with chronic pulmonary infections

A systematic literature review of the clinical and socioeconomic burden of bronchiectasis

The single-breath diffusing capacity of CO and NO in healthy children of European descent

Quantitative 99mTc-albumin colloid nasal mucociliary clearance as an outcome in primary ciliary dyskinesia

Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force

Characteristics and impact of exercise-induced laryngeal obstruction: an international perspective

Pulmonary radioaerosol mucociliary clearance assessment: searching for genotype-specific differences and potential as an outcome measure in primary ciliary dyskinesia

The effect of time-of-day and chest physiotherapy on multiple breath washout measures in children with clinically stable cystic fibrosis

Correction: The Single-Breath Diffusing Capacity of CO and NO in Healthy Children of European Descent

Plethysmographic Measurements of Specific Airway Resistance in Young Children

Registries and collaborative studies for primary ciliary dyskinesia in Europe

Motile ciliopathies

Discriminative Capacity of Bronchodilator Response Measured with Three Different Lung Function Techniques in Asthmatic and Healthy Children Aged 2 to 5 Years

Pulmonary exacerbations in patients with primary ciliary dyskinesia: an expert consensus definition for use in clinical trials

Turning lung clearance index on its head. Reference data for SF 6 multiple-breath washout derived ventilation distribution efficiency

Nationwide lung function monitoring from infancy in newborn-screened children with cystic fibrosis

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