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136 results

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Page 1
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P. Dodd DO, et al. Among authors: leigh mw. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826
Decoding negative genetic panels in primary ciliary dyskinesia.
Gardner RA, Sagel SD, Knowles MR, Ferkol TW, Davis SD, Leigh MW, Zariwala MA. Gardner RA, et al. Among authors: leigh mw. Pediatr Pulmonol. 2024 Mar;59(3):784-787. doi: 10.1002/ppul.26790. Epub 2023 Dec 5. Pediatr Pulmonol. 2024. PMID: 38051289 No abstract available.
Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial.
Ringshausen FC, Shapiro AJ, Nielsen KG, Mazurek H, Pifferi M, Donn KH, van der Eerden MM, Loebinger MR, Zariwala MA, Leigh MW, Knowles MR, Ferkol TW; CLEAN-PCD investigators and study team. Ringshausen FC, et al. Among authors: leigh mw. Lancet Respir Med. 2024 Jan;12(1):21-33. doi: 10.1016/S2213-2600(23)00226-6. Epub 2023 Aug 31. Lancet Respir Med. 2024. PMID: 37660715 Clinical Trial.
Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype.
Kinghorn B, Rosenfeld M, Sullivan E, Onchiri F, Ferkol TW, Sagel SD, Dell SD, Milla C, Shapiro AJ, Sullivan KM, Zariwala MA, Pittman JE, Mollica F, Tiddens HAWM, Kemner-van de Corput M, Knowles MR, Davis SD, Leigh MW. Kinghorn B, et al. Among authors: leigh mw. Ann Am Thorac Soc. 2023 Apr;20(4):539-547. doi: 10.1513/AnnalsATS.202206-524OC. Ann Am Thorac Soc. 2023. PMID: 36442147 Free PMC article.
Laterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype.
Barber AT, Shapiro AJ, Davis SD, Ferkol TW, Atkinson JJ, Sagel SD, Dell SD, Olivier KN, Milla CE, Rosenfeld M, Li L, Lin FC, Sullivan KM, Capps NA, Zariwala MA, Knowles MR, Leigh MW. Barber AT, et al. Among authors: leigh mw. Ann Am Thorac Soc. 2023 Mar;20(3):397-405. doi: 10.1513/AnnalsATS.202206-487OC. Ann Am Thorac Soc. 2023. PMID: 36342963 Free PMC article.
HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians.
Shapiro AJ, Sillon G, D'Agostino D, Baret L, López-Giráldez F, Mane S, Leigh MW, Davis SD, Knowles MR, Zariwala MA. Shapiro AJ, et al. Among authors: leigh mw. Ann Am Thorac Soc. 2023 Jan;20(1):140-144. doi: 10.1513/AnnalsATS.202203-253RL. Ann Am Thorac Soc. 2023. PMID: 36112114 Free PMC article. No abstract available.
A multi-disciplinary, comprehensive approach to management of children with heterotaxy.
Saba TG, Geddes GC, Ware SM, Schidlow DN, Del Nido PJ, Rubalcava NS, Gadepalli SK, Stillwell T, Griffiths A, Bennett Murphy LM, Barber AT, Leigh MW, Sabin N, Shapiro AJ. Saba TG, et al. Among authors: leigh mw. Orphanet J Rare Dis. 2022 Sep 9;17(1):351. doi: 10.1186/s13023-022-02515-2. Orphanet J Rare Dis. 2022. PMID: 36085154 Free PMC article. Review.
Airway Inflammation in Children with Primary Ciliary Dyskinesia.
Sagel SD, Kupfer O, Wagner BD, Davis SD, Dell SD, Ferkol TW, Hoppe JE, Rosenfeld M, Sullivan KM, Tiddens HAWM, Knowles MR, Leigh MW. Sagel SD, et al. Among authors: leigh mw. Ann Am Thorac Soc. 2023 Jan;20(1):67-74. doi: 10.1513/AnnalsATS.202204-314OC. Ann Am Thorac Soc. 2023. PMID: 35984413 Free PMC article.
136 results