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Page 1
Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia.
Masuho I, Fang M, Geng C, Zhang J, Jiang H, Özgul RK, Yılmaz DY, Yalnızoğlu D, Yüksel D, Yarrow A, Myers A, Burn SC, Crotwell PL, Padilla-Lopez S, Dursun A, Martemyanov KA, Kruer MC. Masuho I, et al. Among authors: myers a. Neurol Genet. 2016 May 12;2(3):e78. doi: 10.1212/NXG.0000000000000078. eCollection 2016 Jun. Neurol Genet. 2016. PMID: 27222887 Free PMC article. No abstract available.
Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.
Salih MA, Seidahmed MZ, El Khashab HY, Hamad MH, Bosley TM, Burn S, Myers A, Landsverk ML, Crotwell PL, Bilguvar K, Mane S, Kruer MC. Salih MA, et al. Among authors: myers a. Tremor Other Hyperkinet Mov (N Y). 2015 Jul 9;5:306. doi: 10.7916/D8D21WQ0. eCollection 2015. Tremor Other Hyperkinet Mov (N Y). 2015. PMID: 26203402 Free PMC article.
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
Madeo M, Stewart M, Sun Y, Sahir N, Wiethoff S, Chandrasekar I, Yarrow A, Rosenfeld JA, Yang Y, Cordeiro D, McCormick EM, Muraresku CC, Jepperson TN, McBeth LJ, Seidahmed MZ, El Khashab HY, Hamad M, Azzedine H, Clark K, Corrochano S, Wells S, Elting MW, Weiss MM, Burn S, Myers A, Landsverk M, Crotwell PL, Waisfisz Q, Wolf NI, Nolan PM, Padilla-Lopez S, Houlden H, Lifton R, Mane S, Singh BB, Falk MJ, Mercimek-Mahmutoglu S, Bilguvar K, Salih MA, Acevedo-Arozena A, Kruer MC. Madeo M, et al. Among authors: myers a. Am J Hum Genet. 2016 Jun 2;98(6):1249-1255. doi: 10.1016/j.ajhg.2016.04.008. Epub 2016 May 26. Am J Hum Genet. 2016. PMID: 27236917 Free PMC article.
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A; DDD Study; Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T. Snijders Blok L, et al. Among authors: myers a. Am J Hum Genet. 2015 Aug 6;97(2):343-52. doi: 10.1016/j.ajhg.2015.07.004. Epub 2015 Jul 30. Am J Hum Genet. 2015. PMID: 26235985 Free PMC article.
Case 4: Thrombocytopenia and Hematochezia in an Infant.
Schaller A, Myers A, Khan S, Joshi A, Rodriguez V, Maher G. Schaller A, et al. Among authors: myers a. Pediatr Rev. 2019 May;40(5):254-255. doi: 10.1542/pir.2016-0199. Pediatr Rev. 2019. PMID: 31043446 No abstract available.
Disentangling Sources of Momentum Fluctuations in Xe+Xe and Pb+Pb Collisions with the ATLAS Detector.
Aad G, Aakvaag E, Abbott B, Abdelhameed S, Abeling K, Abicht NJ, Abidi SH, Aboelela M, Aboulhorma A, Abramowicz H, Abreu H, Abulaiti Y, Acharya BS, Ackermann A, Adam Bourdarios C, Adamczyk L, Addepalli SV, Addison MJ, Adelman J, Adiguzel A, Adye T, Affolder AA, Afik Y, Agaras MN, Agarwala J, Aggarwal A, Agheorghiesei C, Ahmadov F, Ahmed WS, Ahuja S, Ai X, Aielli G, Aikot A, Ait Tamlihat M, Aitbenchikh B, Akbiyik M, Åkesson TPA, Akimov AV, Akiyama D, Akolkar NN, Aktas S, Al Khoury K, Alberghi GL, Albert J, Albicocco P, Albouy GL, Alderweireldt S, Alegria ZL, Aleksa M, Aleksandrov IN, Alexa C, Alexopoulos T, Alfonsi F, Algren M, Alhroob M, Ali B, Ali HMJ, Ali S, Alibocus SW, Aliev M, Alimonti G, Alkakhi W, Allaire C, Allbrooke BMM, Allen JF, Allendes Flores CA, Allport PP, Aloisio A, Alonso F, Alpigiani C, Alsolami ZMK, Alvarez Estevez M, Alvarez Fernandez A, Alves Cardoso M, Alviggi MG, Aly M, Amaral Coutinho Y, Ambler A, Amelung C, Amerl M, Ames CG, Amidei D, Amini B, Amirie KJ, Amor Dos Santos SP, Amos KR, An S, Ananiev V, Anastopoulos C, Andeen T, Anders JK, Anderson AC, Andrean SY, Andreazza A, Angelidakis S, Angerami A, Anisenkov AV, Annovi A, Antel C, Antipov E, Antonelli M, … See abstract for full author list ➔ Aad G, et al. Among authors: myers aj. Phys Rev Lett. 2024 Dec 20;133(25):252301. doi: 10.1103/PhysRevLett.133.252301. Phys Rev Lett. 2024. PMID: 39752696 Free article.
Neoadjuvant anti-PD1 immunotherapy for surgically accessible recurrent glioblastoma: clinical and molecular outcomes of a stage 2 single-arm expansion cohort.
McFaline-Figueroa JR, Sun L, Youssef GC, Huang R, Li G, Kim J, Lee EQ, Nayak L, Chukwueke U, Beroukhim R, Batchelor TT, Chiocca EA, Everson RG, Doherty L, Stefanik J, Partridge K, Spearman A, Myers A, Westergaard C, Russ A, Lavallee M, Smokovich A, LaForest-Roys C, Garcia Fox R, McCluskey C, Bi WL, Arnaout O, Peruzzi P, Cosgrove GR, Ligon KL, Arrillaga-Romany I, Clarke JL, Reardon DA, Cloughesy TF, Prins RM, Wen PY. McFaline-Figueroa JR, et al. Among authors: myers a. Nat Commun. 2024 Dec 30;15(1):10757. doi: 10.1038/s41467-024-54326-7. Nat Commun. 2024. PMID: 39737895 Free PMC article. Clinical Trial.
Gene model for the ortholog Myc in Drosophila ananassae.
Myers A, Hoffman A, Natysin M, Arsham AM, Stamm J, Thompson JS, Rele CP, Reed LK. Myers A, et al. MicroPubl Biol. 2024 Nov 30;2024:10.17912/micropub.biology.000856. doi: 10.17912/micropub.biology.000856. eCollection 2024. MicroPubl Biol. 2024. PMID: 39677519 Free PMC article.
1,612 results