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Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects.
Nosrati MSS, Doustmohammadi A, Severino M, Romano F, Zafari M, Nemati AH, Velmans C, Netzer C, Breuer J, Broekaert IJ, Joachim A, Almasri N, Kruer MC, Skidmore P, Bisarad P, Hoque J, Bakhtiari S, Torella A, Nigro V, Buffelli F, Fulcheri E, Müller A, Zara F, Capra V, Scala M. Nosrati MSS, et al. Among authors: muller a. Clin Genet. 2025 Jan;107(1):83-90. doi: 10.1111/cge.14621. Epub 2024 Sep 21. Clin Genet. 2025. PMID: 39305096 Free PMC article.
Severe phenotype with cis-acting heterozygous PMP22 mutations.
Niedrist D, Joncourt F, Mátyás G, Müller A. Niedrist D, et al. Among authors: muller a. Clin Genet. 2009 Mar;75(3):286-9. doi: 10.1111/j.1399-0004.2008.01120.x. Epub 2008 Nov 29. Clin Genet. 2009. PMID: 19067730
Expand Long PCR for fragile X mutation detection.
Hećimović S, Barisić I, Müller A, Petković I, Barić I, Ligutić I, Pavelić K. Hećimović S, et al. Among authors: muller a. Clin Genet. 1997 Sep;52(3):147-54. doi: 10.1111/j.1399-0004.1997.tb02535.x. Clin Genet. 1997. PMID: 9377803
Clinical expression of Menkes syndrome in females.
Gerdes AM, Tønnesen T, Horn N, Grisar T, Marg W, Müller A, Reinsch R, Barton NW, Guiraud P, Joannard A, et al. Gerdes AM, et al. Among authors: muller a. Clin Genet. 1990 Dec;38(6):452-9. doi: 10.1111/j.1399-0004.1990.tb03612.x. Clin Genet. 1990. PMID: 2289318
Exploring the long-term impact of a nurse-midwife mentorship intervention in Neno district, Malawi: a secondary data analysis of maternal and neonatal complications.
Rouse M, Mphande I, Mwale N, Kapira S, Sayenda M, Mvula MG, Openshaw M, Kapito E, Kutsamba M, Maweu D, Mitchell A, Dandu M, Muller A, Blair AH, Baltzell K. Rouse M, et al. Among authors: muller a. BMC Glob Public Health. 2024 Nov 11;2(1):74. doi: 10.1186/s44263-024-00107-9. BMC Glob Public Health. 2024. PMID: 39681971
Spermidine alleviates depression via control of the stress response.
Mackert S, Niemeyer C, Mecdad Y, Ebert T, Bajaj T, Durand S, Hofer SJ, Zellner A, Besteher B, Engelmann J, Gisabella B, Kempf V, Heckmann LA, Laakmann M, Newman EL, Sokn C, Heinz DE, Junglas E, Uribe-Marino A, Magnes C, Klengel C, Müller A, Opriessnig L, Meinitzer A, Lennarz M, Martin KMW, Albatarni R, Brockherde M, Lieb K, Rohner H, Stoffel-Wagner B, Philipsen A, Kuster B, Kölle M, Ressler KJ, Opel N, Schmidt MV, Pantazopoulos H, Müller MB, Kroemer G, Eisenberg T, Hartmann J, Madeo F, Gassen NC. Mackert S, et al. Among authors: muller a. bioRxiv [Preprint]. 2024 Dec 7:2024.12.04.626625. doi: 10.1101/2024.12.04.626625. bioRxiv. 2024. PMID: 39677641 Free PMC article. Preprint.
Further delineation of the SCAF4-associated neurodevelopmental disorder.
Schmid CM, Gregor A, Ruiz A, Manso Bazús C, Herman I, Ammouri F, Kotzaeridou U, McNiven V, Dupuis L, Steindl K, Begemann A, Rauch A, Suter AA, Isidor B, Mercier S, Nizon M, Cogné B, Deb W, Besnard T, Haack TB, Falb RJ, Müller AJ, Linden T, Haldeman-Englert CR, Ockeloen CW, Mattioli F, Reymond A, Ibrahim N, Naz S, Lacaze E, Bassetti JA, Hoefele J, Brunet T, Riedhammer KM, Elloumi HZ, Person R, Zou F, Kahle JJ, Cremer K, Schmidt A, Delrue MA, Almeida PM, Ramos F, Srivastava S, Quinlan A, Robertson S, Manka E, Kuechler A, Spranger S, Nowaczyk MJM, Elshafie RM, Alsharhan H, Hillman PR, Dunnington LA, Braakman HMH, McKee S, Moresco A, Ignat AD, Newbury-Ecob R, Banneau G, Patat O, Kuerbitz J, Rzucidlo S, Sell SS, Gordon P, Schuhmann S, Reis A, Halleb Y, Stoeva R, Keren B, Al Masseri Z, Tümer Z, Hammer-Hansen S, Krüger Sølyst S, Steigerwald CG, Abreu NJ, Faust H, Müller-Nedebock A, Tran Mau-Them F, Sticht H, Zweier C. Schmid CM, et al. Among authors: muller aj. Eur J Hum Genet. 2024 Dec 12. doi: 10.1038/s41431-024-01760-2. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39668183
Effects on family functioning and the home environment of a family-based preventive intervention for children of parents with severe mental illness: A randomized controlled trial.
Gjøde ICT, Müller AD, Hjorthøj C, Hemager N, Ingversen S, Moszkowicz M, Christensen SH, Mikkelsen LJ, Nielsen SS, Melau M, Forman J, Nordentoft M, Thorup AAE. Gjøde ICT, et al. Among authors: muller ad. J Consult Clin Psychol. 2024 Dec 12. doi: 10.1037/ccp0000924. Online ahead of print. J Consult Clin Psychol. 2024. PMID: 39666517
Lysosomal damage due to cholesterol accumulation triggers immunogenic cell death.
Alvarez-Valadez K, Sauvat A, Diharce J, Leduc M, Stoll G, Guittat L, Lambertucci F, Paillet J, Motino O, Ferret L, Muller A, Forveille S, Maiuri MC, Kepp O, G de Brevern A, Wodrich H, G Pol J, Kroemer G, Djavaheri-Mergny M. Alvarez-Valadez K, et al. Among authors: muller a. Autophagy. 2024 Dec 11. doi: 10.1080/15548627.2024.2440842. Online ahead of print. Autophagy. 2024. PMID: 39663580
6,205 results