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Select item 110240181.

Dodecyl creatine ester therapy: from promise to reality

Aloïse Mabondzo, Jiddeke van de Kamp, Saadet Mercimek-Andrews

Cell Mol Life Sci. 2024 Dec; 81(1): 186. Published online 2024 Apr 17. doi: 10.1007/s00018-024-05218-y

PMCID:: PMC11024018

Article PDF–503K

Select item 104880642.

Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement

Anna Burban, Szymon Pucyło, Aleksandra Sikora, Grzegorz Opolski, Marcin Grabowski, Agnieszka Kołodzińska

Int J Mol Sci. 2023 Sep; 24(17): 13239. Published online 2023 Aug 26. doi: 10.3390/ijms241713239

PMCID:: PMC10488064

Article PDF–457K

Select item 98475863.

Abnormalities of Neural Stem Cells in Lesch-Nyhan Disease

Ashok R Dinasarapu, Diane J Sutcliffe, Fatemeh Seifar, Jasper E Visser, H A Jinnah

J Neurogenet. Author manuscript; available in PMC 2023 Oct 13.

Published in final edited form as: J Neurogenet. 2022 Mar-Jun; 36(2-3): 81–87. Published online 2022 Oct 13. doi: 10.1080/01677063.2022.2129632

PMCID:: PMC9847586

Article PDF–1.0M

Select item 97791614.

TRIAC Treatment Improves Impaired Brain Network Function and White Matter Loss in Thyroid Hormone Transporter Mct8/Oatp1c1 Deficient Mice

Jonathan Rochus Reinwald, Wolfgang Weber-Fahr, Alejandro Cosa-Linan, Robert Becker, Markus Sack, Claudia Falfan-Melgoza, Natalia Gass, Urs Braun, Christian Clemm von Hohenberg, Jiesi Chen, Steffen Mayerl, Thomas F. Muente, Heike Heuer, Alexander Sartorius

Int J Mol Sci. 2022 Dec; 23(24): 15547. Published online 2022 Dec 8. doi: 10.3390/ijms232415547

PMCID:: PMC9779161

Article PDF–6.0M

Select item 96025895.

Sleep Respiratory Disturbances in Girls with Rett Syndrome

Xinyan Zhang, Marcel Smits, Leopold Curfs, Karen Spruyt

Int J Environ Res Public Health. 2022 Oct; 19(20): 13082. Published online 2022 Oct 12. doi: 10.3390/ijerph192013082

PMCID:: PMC9602589

Article PDF–367K

Select item 89517976.

Expression of FMRpolyG in Peripheral Blood Mononuclear Cells of Women with Fragile X Mental Retardation 1 Gene Premutation

Xuan Phuoc Nguyen, Adriana Vilkaite, Birgitta Messmer, Jens E. Dietrich, Katrin Hinderhofer, Knut Schäkel, Thomas Strowitzki, Julia Rehnitz

Genes (Basel) 2022 Mar; 13(3): 451. Published online 2022 Mar 1. doi: 10.3390/genes13030451

PMCID:: PMC8951797

Article PDF–2.2M

Select item 85773167.

Glucocorticoid regulation and neuroanatomy in fragile x syndrome

Jennifer L. Bruno, David S. Hong, Amy A. Lightbody, S.M. Hadi Hosseini, Joachim Hallmayer, Allan L. Reiss

J Psychiatr Res. Author manuscript; available in PMC 2022 Feb 1.

Published in final edited form as: J Psychiatr Res. 2021 Feb; 134: 81–88. Published online 2020 Dec 11. doi: 10.1016/j.jpsychires.2020.12.015

PMCID:: PMC8577316

Article PDF–795K

Select item 84500828.

Cyclic mismatch binding ligands interact with disease-associated CGG trinucleotide repeats in RNA and suppress their translation

Patryk Konieczny, Sanjukta Mukherjee, Ewa Stepniak-Konieczna, Katarzyna Taylor, Daria Niewiadomska, Agnieszka Piasecka, Agnieszka Walczak, Anna Baud, Chikara Dohno, Kazuhiko Nakatani, Krzysztof Sobczak

Nucleic Acids Res. 2021 Sep 20; 49(16): 9479–9495. Published online 2021 Aug 6. doi: 10.1093/nar/gkab669

PMCID:: PMC8450082

Article PDF–7.0M

Select item 79802229.

Neuronal non-CG methylation is an essential target for MeCP2 function

Rebekah Tillotson, Justyna Cholewa-Waclaw, Kashyap Chhatbar, John C. Connelly, Sophie A. Kirschner, Shaun Webb, Martha V. Koerner, Jim Selfridge, David A. Kelly, Dina De Sousa, Kyla Brown, Matthew J. Lyst, Skirmantas Kriaucionis, Adrian Bird

Mol Cell. 2021 Mar 18; 81(6): 1260–1275.e12. doi: 10.1016/j.molcel.2021.01.011

PMCID:: PMC7980222

Article

Select item 739488210.

Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach

Maggie Westemeyer, Jennifer Saucier, Jody Wallace, Sarah A. Prins, Aparna Shetty, Meenakshi Malhotra, Zachary P. Demko, Christine M. Eng, Louis Weckstein, Robert Boostanfar, Matthew Rabinowitz, Peter Benn, Dianne Keen-Kim, Paul Billings

Genet Med. 2020; 22(8): 1320–1328. Published online 2020 May 5. doi: 10.1038/s41436-020-0807-4

Correction in:: Genet Med. 2020; 22(7): 1282.

PMCID:: PMC7394882

Article PDF–560K

Select item 735732911.

Molecular Mechanism of Telomere Length Dynamics and Its Prognostic Value in Pediatric Cancers

Zhaoming Wang, Stephen V Rice, Ti-Cheng Chang, Yu Liu, Qi Liu, Na Qin, Daniel K Putnam, Kyla Shelton, Jennifer Q Lanctot, Carmen L Wilson, Kirsten K Ness, Michael C Rusch, Michael N Edmonson, Gang Wu, John Easton, Chimene A Kesserwan, James R Downing, Xiang Chen, Kim E Nichols, Yutaka Yasui, Leslie L Robison, Jinghui Zhang

J Natl Cancer Inst. 2020 Jul; 112(7): 756–764. Published online 2019 Oct 24. doi: 10.1093/jnci/djz210

PMCID:: PMC7357329

Article PDF–1.2M

Select item 658155812.

Pituitary Adenoma in Pediatric and Adolescent Populations

Jie Chen, Robert E Schmidt, Sonika Dahiya

J Neuropathol Exp Neurol. 2019 Jul; 78(7): 626–632. Published online 2019 Apr 26. doi: 10.1093/jnen/nlz040

PMCID:: PMC6581558

Article PDF–570K

Select item 637733613.

Surface- and voxel-based brain morphologic study in Rett and Rett-like syndrome with MECP2 mutation

Tadashi Shiohama, Jacob Levman, Emi Takahashi

Int J Dev Neurosci. Author manuscript; available in PMC 2020 Apr 1.

Published in final edited form as: Int J Dev Neurosci. 2019 Apr; 73: 83–88. Published online 2019 Jan 25. doi: 10.1016/j.ijdevneu.2019.01.005

PMCID:: PMC6377336

Article PDF–827K

Select item 619549114.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

Nataliya Di Donato, Andrew E. Timms, Kimberly A. Aldinger, Ghayda M. Mirzaa, James T. Bennett, Sarah Collins, Carissa Olds, Davide Mei, Sara Chiari, Gemma Carvill, Candace T. Myers, Jean-Baptiste Rivière, Maha S. Zaki, University of Washington Center for Mendelian Genomics, Joseph G. Gleeson, Andreas Rump, Valerio Conti, Elena Parrini, M. Elizabeth Ross, David H. Ledbetter, Renzo Guerrini, William B. Dobyns

Genet Med. Author manuscript; available in PMC 2018 Oct 20.

Published in final edited form as: Genet Med. 2018 Nov; 20(11): 1354–1364. Published online 2018 Apr 19. doi: 10.1038/gim.2018.8

PMCID:: PMC6195491

Article PDF–785K

Select item 598521715.

Loss of Chromatin Remodeling Proteins and/or CDKN2A Associates With Metastasis of Pancreatic Neuroendocrine Tumors and Reduced Patient Survival Times

Somak Roy, William A. LaFramboise, Ta-Chiang Liu, Dengfeng Cao, Alyssa Luvison, Caitlyn Miller, Maureen A. Lyons, Roderick J. O’Sullivan, Amer H. Zureikat, Melissa E. Hogg, Allan Tsung, Kenneth K. Lee, Nathan Bahary, Randall E. Brand, Jennifer S. Chennat, Kenneth E. Fasanella, Kevin McGrath, Marina N Nikiforova, Georgios I. Papachristou, Adam Slivka, Herbert J. Zeh, Aatur D. Singhi

Gastroenterology. Author manuscript; available in PMC 2018 Jun 3.

Published in final edited form as: Gastroenterology. 2018 Jun; 154(8): 2060–2063.e8. Published online 2018 Mar 2. doi: 10.1053/j.gastro.2018.02.026

PMCID:: PMC5985217

Article PDF–696K

Select item 565051116.

Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length

Igor Albizua, Benjamin L. Rambo-Martin, Emily G. Allen, Weiya He, Ashima S. Amin, Stephanie L. Sherman

Am J Med Genet A. Author manuscript; available in PMC 2018 Nov 1.

Published in final edited form as: Am J Med Genet A. 2017 Nov; 173(11): 2985–2994. Published online 2017 Sep 21. doi: 10.1002/ajmg.a.38476

PMCID:: PMC5650511

Article PDF–544K

Select item 552261717.

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

Fanny Kortüm, Soma Das, Max Flindt, Deborah J. Morris-Rosendahl, Irina Stefanova, Amy Goldstein, Denise Horn, Eva Klopocki, Gerhard Kluger, Peter Martin, Anita Rauch, Agathe Roumer, Sulagna Saitta, Laurence E. Walsh, Dagmar Wieczorek, Gökhan Uyanik, Kerstin Kutsche, William B. Dobyns

J Med Genet. Author manuscript; available in PMC 2017 Jul 22.

Published in final edited form as: J Med Genet. 2011 Jun; 48(6): 396–406. Published online 2011 Mar 25. doi: 10.1136/jmg.2010.087528

PMCID:: PMC5522617

Article PDF–1.3M

Select item 549811218.

Abnormal Trajectories in Cerebellum and Brainstem Volumes in Carriers of the Fragile X Premutation

Jun Yi Wang, David Hessl, Randi J. Hagerman, Tony J. Simon, Flora Tassone, Emilio Ferrer, Susan M. Rivera

Neurobiol Aging. Author manuscript; available in PMC 2018 Jul 1.

Published in final edited form as: Neurobiol Aging. 2017 Jul; 55: 11–19. Published online 2017 Mar 18. doi: 10.1016/j.neurobiolaging.2017.03.018

PMCID:: PMC5498112

Article PDF–925K

Select item 491025219.

ATRX immunostaining predicts IDH and H3F3A status in gliomas

Azadeh Ebrahimi, Marco Skardelly, Irina Bonzheim, Ines Ott, Helmut Mühleisen, Franziska Eckert, Ghazaleh Tabatabai, Jens Schittenhelm

Acta Neuropathol Commun. 2016; 4: 60. Published online 2016 Jun 16. doi: 10.1186/s40478-016-0331-6

PMCID:: PMC4910252

Article PDF–1.7M

Select item 471721520.

Improving preimplantation genetic diagnosis for Fragile X syndrome: two new powerful single-round multiplex indirect and direct tests

Emmanuelle Kieffer, Jean-Christophe Nicod, Nathalie Gardes, Claire Kastner, Nicolas Becker, Catherine Celebi, Olivier Pirrello, Catherine Rongières, Isabelle Koscinski, Philippe Gosset, Céline Moutou

Eur J Hum Genet. 2016 Feb; 24(2): 221–227. Published online 2015 May 13. doi: 10.1038/ejhg.2015.96

PMCID:: PMC4717215

Article PDF–525K

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