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Publications

 

2021

 

PDF Icon Hypersensitivity pneumonitis: Lessons from a randomized controlled trial in children
Griese M, Stehling F, Schwerk N, Rosewich M, Jerkic P, Rock H, Ruckes C, Kronfeld K, Sebah D, Wetzke M, Seidl E, Pediatric Pulmonology 2021 May 28. doi: 10.1002/ppul.25513.

 

2020

 

PDF Icon Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants.
Lenz D, Stahl M, Seidl E, Schöndorf D, Brennenstuhl H, Gesenhues F, Heinzmann T, Longerich T, Mendes MI, Prokisch H, Salomons GS, Schön C, Smith DEC, Sommerburg O, Wagner M, Westhoff JH, Reiter K, Staufner C, Griese M.Pediatr Pulmonol. 2020 Aug 24. doi: 10.1002/ppul.25031.

 

PDF Icon Persistent tachypnea of infancy: Follow up at school age.
Seidl E, Carlens J, Schwerk N, Wetzke M, Marczak H, Lange J, Krenke K, Mayell SJ, Escribano A, Seidenberg J, Ahrens F, Hebestreit H, Nährlich L, Sismanlar T, Aslan AT, Snijders D, Ullmann N, Kappler M, Griese M.Pediatr Pulmonol. 2020 Aug 6. doi: 10.1002/ppul.25004.

 

PDF Icon Pulmonary function testing in children's interstitial lung disease.
Ring AM, Carlens J, Bush A, Castillo-Corullón S, Fasola S, Gaboli MP, Griese M, Koucky V, La Grutta S, Lombardi E, Proesmans M, Schwerk N, Snijders D, Nielsen KG, Buchvald F.Eur Respir Rev. 2020 Jul 21;29(157):200019. doi: 10.1183/16000617.0019-2020. Print 2020 Sep 30.PMID: 32699025 Free article. Review.

 

PDF Icon Variation in the bombesin staining of pulmonary neuroendocrine cells in pediatric pulmonary disorders-A useful marker for airway maturity.
Emiralioğlu N, Orhan D, Cinel G, Tuğcu GD, Yalçın E, Doğru D, Özçelik U, Griese M, Kiper N. Pediatr Pulmonol. 2020 Jun 18. doi: 10.1002/ppul.24910.

 

PDF Icon Prospective evaluation of hydroxychloroquine in pediatric interstitial lung diseases: Study protocol for an investigator-initiated, randomized controlled, parallel-group clinical trial.
Griese M, Köhler M, Witt S, Sebah D, Kappler M, Wetzke M, Schwerk N, Emiralioglu N, Kiper N, Kronfeld K, Ruckes C, Rock H, Anthony G, Seidl E.Trials. 2020 Apr 3;21(1):307. doi: 10.1186/s13063-020-4188-4.PMID: 32245508 Free PMC article.

 

PDF Icon Lymphocytic interstitial pneumonia and follicular bronchiolitis in children: A registry-based case series.
Prenzel F, Harfst J, Schwerk N, Ahrens F, Rietschel E, Schmitt-Grohé S, Rubak SML, Poplawska K, Baden W, Vogel M, Hollizeck S, Ley-Zaporozhan J, Brasch F, Reu S, Griese M; LIP/FB-Kids-Lung-Registry Study Group.Pediatr Pulmonol. 2020 Apr;55(4):909-917. doi: 10.1002/ppul.24680. Epub 2020 Feb 10.PMID: 32040879

 

PDF Icon Postinfectious Bronchiolitis Obliterans in Children: Diagnostic Workup and Therapeutic Options: A Workshop Report.
Jerkic SP, Brinkmann F, Calder A, Casey A, Dishop M, Griese M, Kurland G, Niemitz M, Nyilas S, Schramm D, Schubert R, Tamm M, Zielen S, Rosewich M.Can Respir J. 2020 Jan 30;2020:5852827. doi: 10.1155/2020/5852827. eCollection 2020.PMID: 32076469 Free PMC article. Review.

 

PDF Icon Lung ultrasound-a new diagnostic modality in persistent tachypnea of infancy.
Urbankowska E, Urbankowski T, Drobczyński Ł, Griese M, Lange J, Brzewski M, Kulus M, Krenke K.Pediatr Pulmonol. 2020 Apr;55(4):1028-1036. doi: 10.1002/ppul.24654. Epub 2020 Jan 24.PMID: 31978279

 

PDF Icon Inhaled GM-CSF for Pulmonary Alveolar Proteinosis.
Papiris SA, Griese M, Manali ED.N Engl J Med. 2020 Jan 9;382(2):197. doi: 10.1056/NEJMc1914606.

 

2019

 

PDF Icon One-year outcomes in a multicentre cohort study of incident rare diffuse parenchymal lung disease in children (ChILD).
Cunningham S, Graham C, MacLean M, Aurora P, Ashworth M, Barbato A, Calder A, Carlens J, Clement A, Hengst M, Kammer B, Kiper N, Krenke K, Kronfeld K, Lange J, Ley-Zaporozhan J, Nicholson AG, Reu S, Wesselak T, Wetzke M, Bush A, Schwerk N, Griese M; ChILDEU study group. Thorax. 2019 Nov 20. pii: thoraxjnl-2019-213217. Supplementals.

 

PDF Icon Metabolic labelling of choline phospholipids probes ABCA3 transport in lamellar bodies.
Li Y, Kinting S, Höppner S, Forstner ME, Uhl O, Koletzko B, Griese M. Biochim Biophys Acta Mol Cell Biol Lipids. 2019 Dec;1864(12):158516. doi: 10.1016/j.bbalip.2019.158516.

 

PDF Icon Abandoning developmental silos: what can paediatricians and adult interstitial lung disease physicians learn from each other?
Spagnolo P, Griese M, Cocconcelli E, Bernardinello N, Bush A. Curr Opin Pulm Med. 2019 Sep;25(5):418-425.

 

PDF Icon Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood.
Manali ED, Legendre M, Nathan N, Kannengiesser C, Coulomb-L'Hermine A, Tsiligiannis T, Tomos P, Griese M, Borie R, Clement A, Amselem S, Crestani B, Papiris SA. ERJ Open Res. 2019 Jul 22;5(3). pii: 00066-2019. doi: 10.1183/23120541.00066-2019.

 

PDF Icon Clinical characteristics of patients with familial idiopathic pulmonary fibrosis (f-IPF).
Krauss E, Gehrken G, Drakopanagiotakis F, Tello S, Dartsch RC, Maurer O, Windhorst A, von der Beck D, Griese M, Seeger W, Guenther A. BMC Pulm Med. 2019 Jul 18;19(1):130.

 

PDF Icon Potentiation of ABCA3 lipid transport function by ivacaftor and genistein.
Kinting S, Li Y, Forstner M, Delhommel F, Sattler M, Griese M. J Cell Mol Med. 2019 Aug;23(8):5225-5234. doi: 10.1111/jcmm.14397. Epub 2019 Jun 18.

 

PDF Icon Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension.
Galambos C, Mullen MP, Shieh JT, Schwerk N, Kielt MJ, Ullmann N, Boldrini R, Stucin-Gantar I, Haass C, Bansal M, Agrawal PB, Johnson J, Peca D, Surace C, Cutrera R, Pauciulo MW, Nichols WC, Griese M, Ivy D, Abman SH, Austin ED, Danhaive O. Eur Respir J. 2019 Aug 22;54(2). pii: 1801965.

 

PDF Icon Quantitative Lipidomics in Pulmonary Alveolar Proteinosis.
Griese M, Bonella F, Costabel U, de Blic J, Tran NB, Liebisch G. Am J Respir Crit Care Med. 2019 Oct 1;200(7):881-887. doi: 10.1164/rccm.201901-0086OC.

 

PDF Icon De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Diets IJ, van der Donk R, Baltrunaite K, Waanders E, Reijnders MRF, Dingemans AJM, Pfundt R, Vulto-van Silfhout AT, Wiel L, Gilissen C, Thevenon J, Perrin L, Afenjar A, Nava C, Keren B, Bartz S, Peri B, Beunders G, Verbeek N, van Gassen K, Thiffault I, Cadieux-Dion M, Huerta-Saenz L, Wagner M, Konstantopoulou V, Vodopiutz J, Griese M, Boel A, Callewaert B, Brunner HG, Kleefstra T, Hoogerbrugge N, de Vries BBA, Hwa V, Dauber A, Hehir-Kwa JY, Kuiper RP, Jongmans MCJ. Am J Hum Genet. 2019 Apr 4;104(4):758-766. doi: 10.1016/j.ajhg.2019.02.023. Epub 2019 Mar 28.

 

PDF Icon Pulmonary alveolar proteinosis.
Trapnell BC, Nakata K, Bonella F, Campo I, Griese M, Hamilton J, Wang T, Morgan C, Cottin V, McCarthy C. Nat Rev Dis Primers. 2019 Mar 7;5(1):16.

 

PDF Icon Lung disease in STAT3 hyper-IgE syndrome requires intense therapy.
Kröner C, Neumann J, Ley-Zaporozhan J, Hagl B, Meixner I, Spielberger BD, Dückers G, Belohradsky BH, Niehues T, Borte M, Rosenecker J, Kappler M, Nährig S, Reu S, Griese M, Renner ED. Allergy. 2019 Sep;74(9):1691-1702.

 

PDF Icon Patient education for children with interstitial lung diseases and their caregivers: A pilot study.
Niemitz M, Schrader M, Carlens J, Hengst M, Eismann C, Goldbeck L, Griese M, Schwerk N. Patient Educ Couns. 2019 Jan 23. pii: S0738-3991(19)30028-X. doi: 10.1016/j.pec.2019.01.016.

 

2018

 

PDF Icon Early onset children's interstitial lung diseases: Discrete entities or manifestations of pulmonary dysmaturity?
Bush A, Griese M, Seidl E, Kerem E, Reu S, Nicholson AG. Paediatr Respir Rev. 2018 Oct 9. pii: S1526-0542(18)30133-7. doi: 10.1016/j.prrv.2018.09.004.

 

PDF Icon The European research collaboration for Children's Interstitial Lung Disease (ChILDEU) ERS Clinical Research Collaboration.
Cunningham S, Gilbert C, Schwerk N; ChILDEU Clinical Research Collaboration Management Committee; Members of the ChILDEU Clinical Research Collaboration Management Committee: Eur Respir J. 2018 Dec 6;52(6). pii: 1801855. doi: 10.1183/13993003.01855-2018. Print 2018 Dec.

 

PDF Icon Congenital Vertical Tracheal Septum Misdiagnosed as Laryngomalacia.
Reiter K, Kramer J, Griese M, Kammer B. Am J Respir Crit Care Med. 2019 Apr 1;199(7):917-918. doi: 10.1164/rccm.201805-0891IM.

 

PDF Icon Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.
Xu Z, Lo WS, Beck DB, Schuch LA, Oláhová M, Kopajtich R, Chong YE, Alston CL, Seidl E, Zhai L, Lau CF, Timchak D, LeDuc CA, Borczuk AC, Teich AF, Juusola J, Sofeso C, Müller C, Pierre G, Hilliard T, Turnpenny PD, Wagner M, Kappler M, Brasch F, Bouffard JP, Nangle LA, Yang XL, Zhang M, Taylor RW, Prokisch H, Griese M, Chung WK, Schimmel P. Am J Hum Genet. 2018 Jul 5;103(1):100-114. doi: 10.1016/j.ajhg.2018.06.006.

 

PDF Icon Pulmonary interstitial glycogenosis - A systematic analysis of new cases.
Seidl E, Carlens J, Reu S, Wetzke M, Ley-Zaporozhan J, Brasch F, Wesselak T, Schams A, Rauch D, Schuch L, Kappler M, Schelstraete P, Wolf M, Stehling F, Haarmann E, Borensztajn D, van de Loo M, Rubak S, Lex C, Hinrichs B, Reiter K, Schwerk N, Griese M. Respir Med. 2018 Jul;140:11-20. doi: 10.1016/j.rmed.2018.05.009. Epub 2018 May 17.

 

PDF Icon Development and validation of a health-related quality of life questionnaire for pediatric patients with interstitial lung disease.
Niemitz M, Schwerk N, Goldbeck L, Griese M. Pediatr Pulmonol. 2018 Jul;53(7):954-963. doi: 10.1002/ppul.24018. Epub 2018 Apr 23.

 

PDF Icon Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.
Hengst M, Naehrlich L, Mahavadi P, Grosse-Onnebrink J, Terheggen-Lagro S, Skanke LH, Schuch LA, Brasch F, Guenther A, Reu S, Ley-Zaporozhan J, Griese M. Orphanet J Rare Dis. 2018 Mar 27;13(1):42

 

PDF Icon ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.
Schindlbeck U, Wittmann T, Höppner S, Kinting S, Liebisch G, Hegermann J, Griese M. Hum Mutat. 2018 Mar 5. doi: 10.1002/humu.23416

 

PDF Icon Chronic interstitial lung disease in children.
Griese M. Eur Respir Rev. 2018 Feb 7;27(147).

 

PDF Icon Functional rescue of misfolding ABCA3 mutations by small molecular correctors.
Kinting S, Höppner S, Schindlbeck U, Forstner ME, Harfst J, Wittmann T, Griese M. Hum Mol Genet. 2018 Jan 9. doi: 10.1093/hmg/ddy011. Supplements.

 

2017

 

PDF Icon International management platform for children's interstitial lung disease (chILD-EU)
Griese M, Seidl E, Hengst M, Reu S, Rock H, Anthony G, Kiper N, Emiralioğlu N, Snijders D, Goldbeck L, Leidl R, Ley-Zaporozhan J, Krüger-Stollfuss I, Kammer B, Wesselak T, Eismann C, Schams A, Neuner D, MacLean M, Nicholson AG, Lauren M, Clement A, Epaud R, de Blic J, Ashworth M, Aurora P, Calder A, Wetzke M, Kappler M, Cunningham S, Schwerk N, Bush A; and the other chILD-EU collaborators. Thorax. 2017 Oct 22. pii: thoraxjnl-2017-210519. doi: 10.1136/thoraxjnl-2017-210519. [Epub ahead of print]

 

PDF Icon Quantification of volume and lipid filling of intracellular vesicles carrying the ABCA3 transporter.
Höppner S, Kinting S, Torrano AA, Schindlbeck U, Bräuchle C, Zarbock R, Wittman T, Griese M. Biochim Biophys Acta. 2017 Sep 5. pii: S0167-4889(17)30229-X.

 

PDF Icon Pulmonary Alveolar Proteinosis: A Comprehensive Clinical Perspective.
Griese M. Pediatrics. 2017 Aug;140(2). pii: e20170610.

 

PDF Icon Serum YKL-40 is a reliable biomarker for pulmonary alveolar proteinosis.
Bonella F, Long X, He X, Ohshimo S, Griese M, Guzman J, Costabel U. Respirology. 2017 Oct;22(7):1371-1378. doi: 10.1111/resp.13082. Epub 2017 May 31.

 

PDF Icon Management of children with interstitial lung diseases: the difficult issue of acute exacerbations.
Clement A, de Blic J, Epaud R, Galeron L, Nathan N, Hadchouel A, Barbato A, Snijders D, Kiper N, Cunningham S, Griese M, Bush A, Schwerk N; chILD-EU collaboration.
Eur Respir J. 2016 Dec;48(6):1559-1563.

 

PDF Icon Serum YKL-40 as predictor of outcome in hypersensitivity pneumonitis.
Long X, He X, Ohshimo S, Griese M, Sarria R, Guzman J, Costabel U, Bonella F.
Eur Respir J. 2017 Feb 23;49(2). pii: 1501924.

 

PDF Icon Whole lung lavage therapy for pulmonary alveolar proteinosis: a global survey of current practices and procedures.
Campo I, Luisetti M, Griese M, Trapnell BC, Bonella F, Grutters J, Nakata K, Van Moorsel CH, Costabel U, Cottin V, Ichiwata T, Inoue Y, Braschi A, Bonizzoni G, Iotti GA, Tinelli C, Rodi G; WLL International Study Group.
Orphanet J Rare Dis. 2016 Aug 31;11(1):115.

 

PDF Icon Lung disease caused by ABCA3 mutations.
Kröner C, Wittmann T, Reu S, Teusch V, Klemme M, Rauch D, Hengst M, Kappler M, Cobanoglu N, Sismanlar T, Aslan AT, Campo I, Proesmans M, Schaible T, Terheggen-Lagro S, Regamey N, Eber E, Seidenberg J, Schwerk N, Aslanidis C, Lohse P, Brasch F, Zarbock R, Griese M. Thorax. 2017 Mar;72(3):213-220.

 

2016

 

PDF Icon A Global Survey on Whole Lung Lavage in Pulmonary Alveolar Proteinosis.
Campo I, Luisetti M, Griese M, Trapnell BC, Bonella F, Grutters JC, Nakata K, Van Moorsel CH, Costabel U, Cottin V, Ichiwata T, Inoue Y, Braschi A, Bonizzoni G, Iotti GA, Tinelli C, Rodi G; WLL International Study Group.
Chest. 2016 Jul;150(1):251-3.

 

PDF Icon European idiopathic pulmonary fibrosis Patient Charter: a missed opportunity.
Bush A, Barbato A, Clement A, Cunningham S, Blic Jd, Gilbert C, Goldbeck L, Kiper N, Schwerk N, Griese M.
Eur Respir J. 2016 Jul;48(1):282-3.

 

PDF Icon Homooligomerization of ABCA3 and its functional significance.
Frixel S, Lotz-Havla AS, Kern S, Kaltenborn E, Wittmann T, Gersting SW, Muntau AC, Zarbock R, Griese M.
Int J Mol Med. 2016 Aug;38(2):558-66.

 

PDF Icon Serum Levels of Surfactant Proteins in Patients with Combined Pulmonary Fibrosis and Emphysema (CPFE).
Papaioannou AI, Kostikas K, Manali ED, Papadaki G, Roussou A, Spathis A, Mazioti A, Tomos I, Papanikolaou I, Loukides S, Chainis K, Karakitsos P, Griese M, Papiris S.
PLoS One. 2016 Jun 23;11(6):e0157789.

 

PDF Icon Tools to explore ABCA3 mutations causing interstitial lung disease.
Wittmann T, Schindlbeck U, Höppner S, Kinting S, Frixel S, Kröner C, Liebisch G, Hegermann J, Aslanidis C, Brasch F, Reu S, Lasch P, Zarbock R, Griese M.
Pediatr Pulmonol. 2016 Dec;51(12):1284-1294.

 

PDF Icon MUC1 gene polymorphisms are associated with serum KL-6 levels and pulmonary dysfunction in pulmonary alveolar proteinosis.
Bonella F, Long X, Ohshimo S, Horimasu Y, Griese M, Guzman J, Kohno N, Costabel U.
Orphanet J Rare Dis. 2016 Apr 23;11:48.

 

PDF Icon Analysis of the Proteolytic Processing of ABCA3: Identification of Cleavage Site and Involved Proteases.
Hofmann N, Galetskiy D, Rauch D, Wittmann T, Marquardt A, Griese M, Zarbock R.
PLoS One. 2016 Mar 31;11(3):e0152594. doi: 10.1371/journal.pone.0152594. eCollection 2016.

 

PDF Icon Increased risk of interstitial lung disease in children with a single R288K variant of ABCA3.
Wittmann T, Frixel S, Höppner S, Schindlbeck U, Schams A, Kappler MV, Hegermann J, Wrede C, Liebisch G, Vierzig A, Zacharasiewicz A, Kopp M, Poets CF, Baden W, Hartl D, Van Kaam AH, Lohse P, Aslanidis C, Zarbock R, Griese M.
Mol Med. 2016 Feb 26. doi: 10.2119/molmed.2015.00244. [Epub ahead of print]

 

PDF Icon Persistent Tachypnea of Infancy. Usual and Aberrant.
Rauch D, Wetzke M, Reu S, Wesselak W, Schams A, Hengst M, Kammer B, Ley-Zaporozhan J, Kappler M, Proesmans M, Lange J, Escribano A, Kerem E, Ahrens F, Brasch F, Schwerk N, Griese M; PTI (Persistent Tachypnea of Infancy) Study Group of the Kids Lung Register.
Am J Respir Crit Care Med. 2016 Feb 15;193(4):438-47. doi: 10.1164/rccm.201508-1655OC.

 

PDF Icon Cardiovascular risk in pulmonary alveolar proteinosis.
Manali ED, Papadaki G, Konstantonis D, Tsangaris I, Papaioannou AI, Kolilekas L, Schams A, Kagouridis K, Karakatsani A, Orfanos S, Griese M, Papiris SA.
Expert Rev Respir Med. 2016 Feb;10(2):235-40. doi: 10.1586/17476348.2016.1116389. Epub 2015 Nov 27.

 

2015

 

PDF Icon Pulmonary alveolar proteinosis in a cat.
Szatmári V, Teske E, Nikkels PG, Griese M, de Jong PA, Grinwis G, Theegarten D, Veraa S, van Steenbeek FG, Drent M, Bonella F. BMC Vet Res. 2015 Dec 9;11:302.

 

PDF Icon Pushing chILD Forward: The Bright Future of Children's Interstitial Lung Diseases.
Griese M. Ann Am Thorac Soc. 2015 Oct;12(10):1428-9.

 

PDF Icon Categorizing diffuse parenchymal lung disease in children.
Griese M, Irnstetter A, Hengst M, Burmester H, Nagel F, Ripper J, Feilcke M, Pawlita I, Gothe F, Kappler M, Schams A, Wesselak T, Rauch D, Wittmann T, Lohse P, Brasch F, Kröner C.
Orphanet J Rare Dis. 2015 Sep 25;10(1):122. doi: 10.1186/s13023-015-0339-1.

 

PDF Icon Surfactant proteins in pediatric interstitial lung disease.
Griese M, Lorenz E, Hengst M, Schams A, Wesselak T, Rauch D, Wittmann T, Kirchberger V, Escribano A, Schaible T, Baden W, Schulze J, Krude H, Aslanidis C, Schwerk N, Kappler M, Hartl D, Lohse P, Zarbock R.
Pediatr Res. 2016 Jan;79(1-1):34-41. doi: 10.1038/pr.2015.173. Epub 2015 Sep 16.

 

PDF Icon Respiratory Bronchiolitis-Associated Interstitial Lung Disease in Childhood: New Sequela of Smoking.
Sismanlar T, Aslan AT, Turktas H, Memis L, Griese M.
Pediatrics. 2015 Oct;136(4):e1026-9. doi: 10.1542/peds.2015-1303. Epub 2015 Sep 7.

 

PDF Icon GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders.
Griese M, Zarbock R, Costabel U, Hildebrandt J, Theegarten D, Albert M, Thiel A, Schams A, Lange J, Krenke K, Wesselak T, Schön C, Kappler M, Blum H, Krebs S, Jung A, Kröner C, Klein C, Campo I, Luisetti M, Bonella F. BMC Pulm Med. 2015 Aug 12;15:87.

 

PDF Icon European protocols for the diagnosis and initial treatment of interstitial lung disease in children.
Bush A, Cunningham S, de Blic J, Barbato A, Clement A, Epaud R, Hengst M, Kiper N, Nicholson AG, Wetzke M, Snijders D, Schwerk N, Griese M; chILD-EU Collaboration.
Thorax. 2015 Nov;70(11):1078-84. doi: 10.1136/thoraxjnl-2015-207349. Epub 2015 Jul 1. Review. Supplements.

 

PDF Icon In vivo genome editing using nuclease-encoding mRNA corrects SP-B deficiency.
Mahiny AJ, Dewerth A, Mays LE, Alkhaled M, Mothes B, Malaeksefat E, Loretz B, Rottenberger J, Brosch DM, Reautschnig P, Surapolchai P, Zeyer F, Schams A, Carevic M, Bakele M, Griese M, Schwab M, Nürnberg B, Beer-Hammer S, Handgretinger R, Hartl D, Lehr CM, Kormann MS.
Nat Biotechnol. 2015 Jun;33(6):584-6. doi: 10.1038/nbt.3241. Epub 2015 May 18. No abstract available.

 

PDF Icon Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.
Hadchouel A, Wieland T, Griese M, Baruffini E, Lorenz-Depiereux B, Enaud L, Graf E, Dubus JC, Halioui-Louhaichi S, Coulomb A, Delacourt C, Eckstein G, Zarbock R, Schwarzmayr T, Cartault F, Meitinger T, Lodi T, de Blic J, Strom TM.
Am J Hum Genet. 2015 May 7;96(5):826-31. doi: 10.1016/j.ajhg.2015.03.010. Epub 2015 Apr 23.

 

PDF Icon Pulmonary alveolar proteinosis: time to shift?
Papiris SA, Tsirigotis P, Kolilekas L, Papadaki G, Papaioannou AI, Triantafillidou C, Papaporfyriou A, Karakatsani A, Kagouridis K, Griese M, Manali ED.
Expert Rev Respir Med. 2015 Jun;9(3):337-49. doi: 10.1586/17476348.2015.1035259. Epub 2015 Apr 12. Review.

 

PDF Icon ABCA3 protects alveolar epithelial cells against free cholesterol induced cell death.
Zarbock R, Kaltenborn E, Frixel S, Wittmann T, Liebisch G, Schmitz G, Griese M.
Biochim Biophys Acta. 2015 Jul;1851(7):987-95. doi: 10.1016/j.bbalip.2015.03.004. Epub 2015 Mar 25.

 

PDF Icon Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.
Reunert J, Lotz-Havla AS, Polo G, Kannenberg F, Fobker M, Griese M, Mengel E, Muntau AC, Schnabel P, Sommerburg O, Borggraefe I, Dardis A, Burlina AP, Mall MA, Ciana G, Bembi B, Burlina AB, Marquardt T.
JIMD Rep. 2015;23:17-26. doi: 10.1007/8904_2015_423. Epub 2015 Mar 13.

 

PDF Icon Surfactant lipidomics in healthy children and childhood interstitial lung disease.
Griese M, Kirmeier HG, Liebisch G, Rauch D, Stückler F, Schmitz G, Zarbock R; ILD-BAL working group of the Kids-Lung-Register.
PLoS One. 2015 Feb 18;10(2):e0117985. doi: 10.1371/journal.pone.0117985. eCollection 2015.

 

PDF Icon Life-threatening, giant pneumatoceles in the course of surfactant protein C deficiency.
Sismanlar T, Aslan AT, Griese M.
Pediatr Pulmonol. 2015 Feb 9. doi: 10.1002/ppul.23162. [Epub ahead of print]

 

PDF Icon Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.
Kröner C, Reu S, Teusch V, Schams A, Grimmelt AC, Barker M, Brand J, Gappa M, Kitz R, Kramer BW, Lange L, Lau S, Pfannenstiel C, Proesmans M, Seidenberg J, Sismanlar T, Aslan AT, Werner C, Zielen S, Zarbock R, Brasch F, Lohse P, Griese M. Eur Respir J. 2015 Feb 5. pii: ERJ-01294-2014.

 

2014

 

PDF Icon Hydroxychloroquine in children with interstitial (diffuse parenchymal) lung diseases.
Braun S, Ferner M, Kronfeld K, Griese M.
Pediatr Pulmonol. 2014 Dec 9. doi: 10.1002/ppul.23133. [Epub ahead of print]

 

PDF Icon Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis.
Hildebrandt J, Yalcin E, Bresser HG, Cinel G, Gappa M, Haghighi A, Kiper N, Khalilzadeh S, Reiter K, Sayer J, Schwerk N, Sibbersen A, Van Daele S, Nübling G, Lohse P, Griese M.
Orphanet J Rare Dis. 2014 Nov 26;9(1):171. [Epub ahead of print]

 

PDF Icon Pulmonary alveolar proteinosis in children on La Réunion Island: a new inherited disorder?
Enaud L, Hadchouel A, Coulomb A, Berteloot L, Lacaille F, Boccon-Gibod L, Boulay V, Darcel F, Griese M, Linard M, Louha M, Renouil M, Rivière JP, Toupance B, Verkarre V, Delacourt C, de Blic J.
Orphanet J Rare Dis. 2014 Jun 14;9:85. doi: 10.1186/1750-1172-9-85.

 

PDF Icon Long-term inhaled granulocyte macrophage-colony-stimulating factor in autoimmune pulmonary alveolar proteinosis: effectiveness, safety, and lowest effective dose.
Papiris SA, Tsirigotis P, Kolilekas L, Papadaki G, Papaioannou AI, Triantafillidou C, Papaporfyriou A, Karakatsani A, Kagouridis K, Griese M, Manali ED.
Clin Drug Investig. 2014 Aug;34(8):553-64. doi: 10.1007/s40261-014-0208-z.

 

PDF Icon A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant.
Campo I, Zorzetto M, Mariani F, Kadija Z, Morbini P, Dore R, Kaltenborn E, Frixel S, Zarbock R, Liebisch G, Hegermann J, Wrede C, Griese M, Luisetti M.
Respir Res. 2014 Apr 15;15:43. doi: 10.1186/1465-9921-15-43. Supplements.

 

PDF Icon Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
Thorwarth A, Schnittert-Hübener S, Schrumpf P, Müller I, Jyrch S, Dame C, Biebermann H, Kleinau G, Katchanov J, Schuelke M, Ebert G, Steininger A, Bönnemann C, Brockmann K, Christen HJ, Crock P, deZegher F, Griese M, Hewitt J, Ivarsson S, Hübner C, Kapelari K, Plecko B, Rating D, Stoeva I, Ropers HH, Grüters A, Ullmann R, Krude H.
J Med Genet. 2014 Jun;51(6):375-87. doi: 10.1136/jmedgenet-2013-102248. Epub 2014 Apr 8.

 

PDF Icon Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress.
van Hoorn J, Brouwers A, Griese M, Kramer B.
BMJ Case Rep. 2014 Mar 19;2014. pii: bcr2013203053. doi: 10.1136/bcr-2013-203053.

 

PDF Icon Neonatal respiratory insufficiency caused by an (homozygous) ABCA3-stop mutation: a systematic evaluation of therapeutic options.
Winter J, Essmann S, Kidszun A, Aslanidis C, Griese M, Poplawska K, Bartsch M, Schmitz G, Mildenberger E.
Klin Padiatr. 2014 Apr;226(2):53-8. doi: 10.1055/s-0033-1363687. Epub 2014 Mar 14. Review.

 

2013

 

PDF Icon Hypersensitivity pneumonitis: lessons for diagnosis and treatment of a rare entity in children.
Griese M, Haug M, Hartl D, Teusch V, Glöckner-Pagel J, Brasch F; National EAA Study Group.
Orphanet J Rare Dis. 2013 Aug 8;8:121. doi: 10.1186/1750-1172-8-121.

 

PDF Icon Successful treatment of neonatal respiratory failure caused by a novel surfactant protein C p.Cys121Gly mutation with hydroxychloroquine.
Hepping N, Griese M, Lohse P, Garbe W, Lange L.
J Perinatol. 2013 Jun;33(6):492-4. doi: 10.1038/jp.2012.131.

 

PDF Icon SFTPC mutations cause SP-C degradation and aggregate formation without increasing ER stress.
Thurm T, Kaltenborn E, Kern S, Griese M, Zarbock R.
Eur J Clin Invest. 2013 Aug;43(8):791-800. doi: 10.1111/eci.12107. Epub 2013 May 24.

 

PDF Icon Serum KL-6 is a predictor of outcome in pulmonary alveolar proteinosis.
Bonella F, Ohshimo S, Miaotian C, Griese M, Guzman J, Costabel U.
Orphanet J Rare Dis. 2013 Apr 4;8:53. doi: 10.1186/1750-1172-8-53.

    

PDF Icon The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.
Jessen B, Bode SF, Ammann S, Chakravorty S, Davies G, Diestelhorst J, Frei-Jones M, Gahl WA, Gochuico BR, Griese M, Griffiths G, Janka G, Klein C, Kögl T, Kurnik K, Lehmberg K, Maul-Pavicic A, Mumford AD, Pace D, Parvaneh N, Rezaei N, de Saint Basile G, Schmitt-Graeff A, Schwarz K, Karasu GT, Zieger B, Zur Stadt U, Aichele P, Ehl S.
Blood. 2013 Apr 11;121(15):2943-51. doi: 10.1182/blood-2012-10-463166. Epub 2013 Feb 12.

       

PDF Icon Research in progress: put the orphanage out of business
Andrew Bush, Gisela Anthony, Angelo Barbato, Steve Cunningham, Annick Clement, R Epaud, Carlee Gilbert, Lutz Goldbeck, Kai Kronfeld, Andrew G Nicholson, Nicolaus Schwerk, Matthias Griese, on behalf of the ch-ILD collaborators
Thorax Online First, published on February 21, 2013 as 10.1136/thoraxjnl-2012-203201