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Items: 1 to 20 of 40

1.
Síndrome de discapacidad intelectual ligada a X con macrocefalia por deleción del gen BRWD3
Ignacio Arroyo-Carrera, Rafael Romero-Peguero, Rebeca Martín-Fernández, Alba Ramajo-Polo, Verónica García-Navas Núñez
Rev Neurol. 2024; 78(11): 323–326. Spanish. Published online 2024 Jun 1. doi: 10.33588/rn.7811.2024057
PMCID:
PMC11407458
ArticlePDF–367K
2.
Magnetic Nanoparticle‐Assisted Non‐Viral CRISPR‐Cas9 for Enhanced Genome Editing to Treat Rett Syndrome
Hyeon‐Yeol Cho, Myungsik Yoo, Thanapat Pongkulapa, Hudifah Rabie, Alysson R. Muotri, Perry T. Yin, Jeong‐Woo Choi, Ki‐Bum Lee
Adv Sci (Weinh) 2024 Jun; 11(24): 2306432. Published online 2024 Apr 22. doi: 10.1002/advs.202306432
PMCID:
PMC11200027
ArticlePDF–4.0M
3.
Altered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Disease
Janis Stavusis, Ieva Micule, Ieva Grinfelde, Anna Zdanovica, Janis Pudulis, Sandra Valeina, Svetlana Sepetiene, Baiba Lace, Inna Inashkina
Medicina (Kaunas) 2024 Jan; 60(1): 99. Published online 2024 Jan 5. doi: 10.3390/medicina60010099
PMCID:
PMC10821070
ArticlePDF–699K
4.
Identification of USP9X as a leukemia susceptibility gene
Saumya Dushyant Sisoudiya, Pamela Mishra, He Li, Jeremy M. Schraw, Michael E. Scheurer, Sejal Salvi, Harsha Doddapaneni, Donna Muzny, Danielle Mitchell, Olga Taylor, Aniko Sabo, Philip J. Lupo, Sharon E. Plon
Blood Adv. 2023 Aug 22; 7(16): 4563–4575. Published online 2023 Jun 10. doi: 10.1182/bloodadvances.2023009814
PMCID:
PMC10425687
ArticlePDF–1.3M
5.
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach
Marc Engelen, Wouter J.C. van Ballegoij, Eric James Mallack, Keith P. Van Haren, Wolfgang Köhler, Ettore Salsano, A.S.P. van Trotsenburg, Fanny Mochel, Caroline Sevin, Molly O. Regelmann, Nicholas A. Tritos, Alyssa Halper, Robin H. Lachmann, James Davison, Gerald V. Raymond, Troy C. Lund, Paul J. Orchard, Joern-Sven Kuehl, Caroline A. Lindemans, Paul Caruso, Bela Rui Turk, Ann B. Moser, Frédéric M. Vaz, Sacha Ferdinandusse, Stephan Kemp, Ali Fatemi, Florian S. Eichler, Irene C. Huffnagel
Neurology. 2022 Nov 22; 99(21): 940–951. doi: 10.1212/WNL.0000000000201374
PMCID:
PMC9687408
ArticlePDF–649K
6.
ABCD1 and X-linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models
Joshua Manor, Hyunglok Chung, Pranjali K. Bhagwat, Michael F. Wangler
J Neurosci Res. Author manuscript; available in PMC 2022 Nov 15.
Published in final edited form as: J Neurosci Res. 2021 Dec; 99(12): 3170–3181. Published online 2021 Oct 29. doi: 10.1002/jnr.24953
PMCID:
PMC9665428
ArticlePDF–364K
7.
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study
Ferdy S van Geest, Stefan Groeneweg, Erica L T van den Akker, Iuliu Bacos, Diana Barca, Sjoerd A A van den Berg, Enrico Bertini, Doris Brunner, Nicola Brunetti-Pierri, Marco Cappa, Gerarda Cappuccio, Krishna Chatterjee, Alexander D Chesover, Peter Christian, Régis Coutant, Dana Craiu, Patricia Crock, Cheyenne Dewey, Alice Dica, Paul Dimitri, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Luigi R Garibaldi, Belinda George, Annette Hackenberg, Bianka Heinrich, Tony Huynh, Anna Kłosowska, Amy Lawson-Yuen, Michaela Linder-Lucht, Greta Lyons, Felipe Monti Lora, Carla Moran, Katalin E Müller, Laura Paone, Praveen G Paul, Michel Polak, Francesco Porta, Christina Reinauer, Yolanda B de Rijke, Rowen Seckold, Tuba Seven Menevşe, Peter Simm, Anna Simon, Marco Spada, Athanasia Stoupa, Lilla Szeifert, Davide Tonduti, Hans van Toor, Serap Turan, Joel Vanderniet, Monique de Waart, Ronald van der Wal, Adri van der Walt, Anne-Marie van Wermeskerken, Jolanta Wierzba, Federica Zibordi, Amnon Zung, Robin P Peeters, W Edward Visser
J Clin Endocrinol Metab. 2022 Mar; 107(3): e1136–e1147. Published online 2021 Oct 22. doi: 10.1210/clinem/dgab750
PMCID:
PMC8852204
Article
8.
Zespół łamliwego Chromosomu x i Choroby FMR1-zależne - Objawy Kliniczne, Epidemiologia i Podłoże Molekularne Choroby
Aleksandra Landowska, Sylwia Rzońca, Jerzy Bal, Monika Gos
Dev Period Med. 2018 Mar; 22(1): 14–21. Polish. Published online 2018 Apr 12. doi: 10.34763/devperiodmed.20182201.1421
PMCID:
PMC8522919
ArticlePDF–447K
9.
Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns
Anouk M Olthof, Alisa K White, Stephen Mieruszynski, Karen Doggett, Madisen F Lee, Almahdi Chakroun, Alice K Abdel Aleem, Justine Rousseau, Cinzia Magnani, Chaim M Roifman, Philippe M Campeau, Joan K Heath, Rahul N Kanadia
Nucleic Acids Res. 2021 Apr 6; 49(6): 3524–3545. Published online 2021 Feb 28. doi: 10.1093/nar/gkab118
PMCID:
PMC8034651
ArticlePDF–7.2M
10.
Aging in fragile X premutation carriers
Reymundo Lozano, Naomi Saito, Dallas Reed, Marwa Eldeeb, Andrea Schneider, David Hessl, Flora Tassone, Laurel Beckett, Randi Hagerman
Cerebellum. Author manuscript; available in PMC 2021 Apr 5.
Published in final edited form as: Cerebellum. 2016 Oct; 15(5): 587–594. doi: 10.1007/s12311-016-0805-x
PMCID:
PMC8020959
ArticlePDF–466K
11.
A case report of delayed diagnosis of danon disease: Caused by a newly recognized mutation in the lysosome-associated membrane protein-2 gene
Ying Zhang, Hang Ren, Shanshan Zhou
Medicine (Baltimore) 2020 Oct 2; 99(40): e22640. Published online 2020 Oct 2. doi: 10.1097/MD.0000000000022640
PMCID:
PMC7535637
ArticlePDF–739K
12.
Delayed emergence from propofol anesthesia in a patient with Lesch-Nyhan syndrome: A case report
Jungwon Lee, Sung Mee Jung, Sungmin Jeon
Medicine (Baltimore) 2020 Aug 21; 99(34): e21847. Published online 2020 Aug 21. doi: 10.1097/MD.0000000000021847
PMCID:
PMC7447411
ArticlePDF–172K
13.
Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report
Alina Bogliş, Adriana S. Cosma, Florin Tripon, Claudia Bãnescu
Medicine (Baltimore) 2020 Aug 14; 99(33): e21632. Published online 2020 Aug 14. doi: 10.1097/MD.0000000000021632
PMCID:
PMC7437857
ArticlePDF–798K
14.
Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis
Yi Gu, Bingwu Xiang, Lina Zhu, Xiuwei Ma, Xiang Chen, Tao Cai
BMC Med Genet. 2020; 21: 99. Published online 2020 May 11. doi: 10.1186/s12881-020-01042-w
PMCID:
PMC7216709
ArticlePDF–2.0M
15.
Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles
Alison Pandelache, Emma K Baker, Solange M. Aliaga, Marta Arpone, Robin Forbes, Zornitza Stark, David Francis, David E. Godler
Genes (Basel) 2019 Apr; 10(4): 279. Published online 2019 Apr 5. doi: 10.3390/genes10040279
PMCID:
PMC6523498
ArticlePDF–960K
16.
Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology
H. Jürgen Wenzel, Karl D. Murray, Saif N. Haify, Michael R. Hunsaker, Jared J. Schwartzer, Kyoungmi Kim, Albert R. La Spada, Bryce L. Sopher, Paul J. Hagerman, Christopher Raske, Lies-Anne W.F.M. Severijnen, Rob Willemsen, Renate K. Hukema, Robert F. Berman
Acta Neuropathol Commun. 2019; 7: 27. Published online 2019 Feb 26. doi: 10.1186/s40478-019-0677-7
PMCID:
PMC6390634
ArticlePDF–14M
17.
Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability
Alena Zablotskaya, Hilde Van Esch, Kevin J. Verstrepen, Guy Froyen, Joris R. Vermeesch
BMC Med Genomics. 2018; 11: 123. Published online 2018 Dec 19. doi: 10.1186/s12920-018-0446-7
PMCID:
PMC6299999
ArticlePDF–2.5M
18.
Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome
Cheng Cheng, Pan-Yue Deng, Yoshiho Ikeuchi, Carla Yuede, Daofeng Li, Nicholas Rensing, Ju Huang, Dustin Baldridge, Susan E. Maloney, Joseph D. Dougherty, John Constantino, Arezu Jahani-Asl, Michael Wong, David F. Wozniak, Ting Wang, Vitaly A. Klyachko, Azad Bonni
Cell Rep. Author manuscript; available in PMC 2018 Nov 28.
Published in final edited form as: Cell Rep. 2018 Nov 6; 25(6): 1404–1414.e6. doi: 10.1016/j.celrep.2018.10.043
PMCID:
PMC6261530
ArticlePDF–991K
19.
Fragile X syndrome: a review of clinical and molecular diagnoses
Claudia Ciaccio, Laura Fontana, Donatella Milani, Silvia Tabano, Monica Miozzo, Susanna Esposito
Ital J Pediatr. 2017; 43: 39. Published online 2017 Apr 19. doi: 10.1186/s13052-017-0355-y
PMCID:
PMC5395755
ArticlePDF–598K
20.
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels
Holly LaDuca, Kelly D. Farwell, Huy Vuong, Hsiao-Mei Lu, Wenbo Mu, Layla Shahmirzadi, Sha Tang, Jefferey Chen, Shruti Bhide, Elizabeth C. Chao
PLoS One. 2017; 12(2): e0170843. Published online 2017 Feb 2. doi: 10.1371/journal.pone.0170843
PMCID:
PMC5289469
ArticlePDF–716K

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