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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: bauer m, bauer p. Brain. 2024 Apr 4;147(4):1436-1456. doi: 10.1093/brain/awad380. Brain. 2024. PMID: 37951597 Free PMC article.
De novo mutations in PURA are associated with hypotonia and developmental delay.
Tanaka AJ, Bai R, Cho MT, Anyane-Yeboa K, Ahimaz P, Wilson AL, Kendall F, Hay B, Moss T, Nardini M, Bauer M, Retterer K, Juusola J, Chung WK. Tanaka AJ, et al. Among authors: bauer m. Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000356. doi: 10.1101/mcs.a000356. Cold Spring Harb Mol Case Stud. 2015. PMID: 27148565 Free PMC article.
Phenotype and natural history in Marshall-Smith syndrome.
Shaw AC, van Balkom ID, Bauer M, Cole TR, Delrue MA, Van Haeringen A, Holmberg E, Knight SJ, Mortier G, Nampoothiri S, Pušeljić S, Zenker M, Cormier-Daire V, Hennekam RC. Shaw AC, et al. Among authors: bauer m. Am J Med Genet A. 2010 Nov;152A(11):2714-26. doi: 10.1002/ajmg.a.33709. Am J Med Genet A. 2010. PMID: 20949508
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Hustead V, Mascotti K, Schultz R, Hallam L, McRae D, Nicholson AG, Newbury R, Durham-O'Donnell J, Knight G, Kini U, Shaikh TH, Martin V, Tyreman M, Simonic I, Willatt L, Paterson J, Mehta S, Rajan D, Fitzgerald T, Gribble S, Prigmore E, Patel A, Shaffer LG, Carter NP, Cheung SW, Langston C, Shaw-Smith C. Stankiewicz P, et al. Among authors: bauer m. Am J Hum Genet. 2009 Jun;84(6):780-91. doi: 10.1016/j.ajhg.2009.05.005. Epub 2009 Jun 4. Am J Hum Genet. 2009. PMID: 19500772 Free PMC article.
Medical comorbidities in bipolar disorder (BIPCOM): clinical validation of risk factors and biomarkers to improve prevention and treatment. Study protocol.
de Girolamo G, Andreassen OA, Bauer M, Brambilla P, Calza S, Citerà N, Corcoy R, Fagiolini A, Garcia-Argibay M, Godin O, Klingler F, Kobayashi NF, Larsson H, Leboyer M, Matura S, Martinelli A, De la Peña-Arteaga V, Poli R, Reif A, Ritter P, Rødevand LN, Magno M, Caselani E; BIPCOM consortium. de Girolamo G, et al. Among authors: bauer m. Int J Bipolar Disord. 2024 May 4;12(1):15. doi: 10.1186/s40345-024-00337-8. Int J Bipolar Disord. 2024. PMID: 38703295 Free PMC article.
St. John's wort extract with a high hyperforin content does not induce P-glycoprotein activity at the human blood-brain barrier.
El Biali M, Wölfl-Duchek M, Jackwerth M, Mairinger S, Weber M, Bamminger K, Poschner S, Rausch I, Schindler N, Lozano IH, Jäger W, Nics L, Tournier N, Hacker M, Zeitlinger M, Bauer M, Langer O. El Biali M, et al. Among authors: bauer m. Clin Transl Sci. 2024 May;17(5):e13804. doi: 10.1111/cts.13804. Clin Transl Sci. 2024. PMID: 38700454 Free PMC article.
4,215 results