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Select item 11423151.

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene

Monica L Stepp, A Lauren Cason, Merran Finnis, Marie Mangelsdorf, Elke Holinski-Feder, David Macgregor, Andrée MacMillan, Jeanette JA Holden, Jozef Gecz, Roger E Stevenson, Charles E Schwartz

BMC Med Genet. 2005; 6: 16. Published online 2005 Apr 25. doi: 10.1186/1471-2350-6-16

PMCID:: PMC1142315

Article PDF–256K

Select item 32234982.

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Maurizio Scarpa, Zsuzsanna Almássy, Michael Beck, Olaf Bodamer, Iain A Bruce, Linda De Meirleir, Nathalie Guffon, Encarna Guillén-Navarro, Pauline Hensman, Simon Jones, Wolfgang Kamin, Christoph Kampmann, Christina Lampe, Christine A Lavery, Elisa Leão Teles, Bianca Link, Allan M Lund, Gunilla Malm, Susanne Pitz, Michael Rothera, Catherine Stewart, Anna Tylki-Szymańska, Ans van der Ploeg, Robert Walker, Jiri Zeman, James E Wraith

Orphanet J Rare Dis. 2011; 6: 72. Published online 2011 Nov 7. doi: 10.1186/1750-1172-6-72

PMCID:: PMC3223498

Article PDF–831K

Select item 110752293.

Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report

Shaoping Zhong, Jianying Liu, Yangye Lian, Binbin Zhou, Xin Wang, Jing Ding

BMC Neurol. 2024; 24: 154. Published online 2024 May 7. doi: 10.1186/s12883-024-03641-z

PMCID:: PMC11075229

Article PDF–3.1M

Select item 110608344.

Age-dependent cognitive changes in carriers of the Fragile X Syndrome

Kim M. Cornish, Lexin Li, Cary S. Kogan, Sebastien Jacquemont, Jeremy Turk, Ann Dalton, Randi J. Hagerman., Paul J. Hagerman

Cortex. Author manuscript; available in PMC 2024 Apr 30.

Published in final edited form as: Cortex. 2008 Jun; 44(6): 628–636. Published online 2007 Dec 23. doi: 10.1016/j.cortex.2006.11.002

PMCID:: PMC11060834

Article PDF–254K

Select item 110582305.

Mature neurons from iPSCs unveil neurodegeneration-related pathways in mucopolysaccharidosis type II: GSK-3β inhibition for therapeutic potential

Tzu-Yu Chen, Shuan-Pei Lin, De-Fong Huang, Hsien-Sung Huang, Feng-Chiao Tsai, Li-Jen Lee, Hsiang-Yu Lin, Hsiang-Po Huang

Cell Death Dis. 2024 Apr; 15(4): 302. Published online 2024 Apr 29. doi: 10.1038/s41419-024-06692-9

PMCID:: PMC11058230

Article PDF–7.3M

Select item 110572266.

Sleep problems in Fragile X syndrome: Cross-sectional analysis of a large clinic-based cohort

Dejan B. Budimirovic, Dragana D. Protic, Carol M. Delahunty, Howard F. Andrews, Tse-Hwei Choo, Qing Xu, Elizabeth Berry-Kravis, Walter E. Kaufmann

Am J Med Genet A. Author manuscript; available in PMC 2024 Apr 29.

Published in final edited form as: Am J Med Genet A. 2022 Apr; 188(4): 1029–1039. Published online 2021 Dec 10. doi: 10.1002/ajmg.a.62601

PMCID:: PMC11057226

Article PDF–220K

Select item 110557647.

Systematic and quantitative analysis of stop codon readthrough in Rett syndrome nonsense mutations

Dennis Lebeda, Adrian Fierenz, Lina Werfel, Rina Rosin-Arbesfeld, Julia Hofhuis, Sven Thoms

J Mol Med (Berl) 2024; 102(5): 641–653. Published online 2024 Mar 2. doi: 10.1007/s00109-024-02436-6

PMCID:: PMC11055764

Article PDF–5.6M

Select item 110546298.

Potential Prodromal Digital Postural Sway Markers for Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Detected via Dual-Tasking and Sensory Manipulation

Emily C. Timm, Nicollette L. Purcell, Bichun Ouyang, Elizabeth Berry-Kravis, Deborah A. Hall, Joan Ann O’Keefe

Sensors (Basel) 2024 Apr; 24(8): 2586. Published online 2024 Apr 18. doi: 10.3390/s24082586

PMCID:: PMC11054629

Article PDF–992K

Select item 110481799.

Metformin Induces MeCP2 in the Hippocampus of Male Mice with Sex-Specific and Brain-Region-Dependent Molecular Impact

Khatereh Saei Arezoumand, Chris-Tiann Roberts, Mojgan Rastegar

Biomolecules. 2024 Apr; 14(4): 505. Published online 2024 Apr 21. doi: 10.3390/biom14040505

PMCID:: PMC11048179

Article PDF–3.7M

Select item 1104796110.

Fragile X Messenger Ribonucleoprotein Protein and Its Multifunctionality: From Cytosol to Nucleolus and Back

Mohamed S. Taha, Mohammad Reza Ahmadian

Biomolecules. 2024 Apr; 14(4): 399. Published online 2024 Mar 26. doi: 10.3390/biom14040399

PMCID:: PMC11047961

Article PDF–1.2M

Select item 1104706511.

Beneficial Effects of the Direct AMP-Kinase Activator PXL770 in In Vitro and In Vivo Models of X-Linked Adrenoleukodystrophy

Pierre-Axel Monternier, Parveen Parasar, Pierre Theurey, Pascale Gluais Dagorn, Navtej Kaur, Tavarekere N Nagaraja, Pascale Fouqueray, Sébastien Bolze, David E. Moller, Jaspreet Singh, Sophie Hallakou-Bozec

J Pharmacol Exp Ther. 2022 Aug; 382(2): 208–222. Published online 2022 Aug. doi: 10.1124/jpet.122.001208

PMCID:: PMC11047065

Article PDF–2.1M

Select item 1104538212.

Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1

Naoki Takegami, Takashi Matsukawa, Masashi Hamada, Shuichi Tanifuji, Takayuki Tamura, Nanaka Yamaguchi-Takegami, Hiroyuki Ishiura, Jun Mitsui, Kaori Sakuishi, Shoji Tsuji, Tatsushi Toda

Intern Med. 2024 Apr 1; 63(7): 999–1004. Published online 2023 Aug 9. doi: 10.2169/internalmedicine.2240-23

PMCID:: PMC11045382

Article PDF–715K

Select item 1104487213.

Lentiviral Gene Therapy for Mucopolysaccharidosis II with Tagged Iduronate 2-Sulfatase Prevents Life-Threatening Pathology in Peripheral Tissues But Fails to Correct Cartilage

Fabio Catalano, Eva C. Vlaar, Zina Dammou, Drosos Katsavelis, Tessa F. Huizer, Giacomo Zundo, Marianne Hoogeveen-Westerveld, Esmeralda Oussoren, Hannerieke J.M.P. van den Hout, Gerben Schaaf, Karin Pike-Overzet, Frank J.T. Staal, Ans T. van der Ploeg, W.W.M. Pim Pijnappel

Hum Gene Ther. April 2024; 35(7-8): 256–268. Published online 2024 Apr 16. doi: 10.1089/hum.2023.177

PMCID:: PMC11044872

Article PDF–2.3M

Select item 1103999814.

Extending MeCP2 interactome: canonical nucleosomal histones interact with MeCP2

David Ortega-Alarcon, Rafael Claveria-Gimeno, Sonia Vega, Ladan Kalani, Olga C Jorge-Torres, Manel Esteller, Juan Ausio, Olga Abian, Adrian Velazquez-Campoy

Nucleic Acids Res. 2024 Apr 24; 52(7): 3636–3653. Published online 2024 Feb 7. doi: 10.1093/nar/gkae051

PMCID:: PMC11039998

Article PDF–3.3M

Select item 1103225215.

Epigenetic Causes of Overgrowth Syndromes

Julian C Lui, Jeffrey Baron

J Clin Endocrinol Metab. 2024 Feb; 109(2): 312–320. Published online 2023 Jul 14. doi: 10.1210/clinem/dgad420

PMCID:: PMC11032252

Article

Select item 1102998416.

A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report

Jinxin Liu, Xin Wang, Di Huang, Yuna Qi, Lei Xu, Yankun Shao

Medicine (Baltimore) 2024 Apr 19; 103(16): e37874. Published online 2024 Apr 19. doi: 10.1097/MD.0000000000037874

PMCID:: PMC11029984

Article PDF–618K

Select item 1102401817.

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 1101298318.

X-Linked Epilepsies: A Narrative Review

Pia Bernardo, Claudia Cuccurullo, Marica Rubino, Gabriella De Vita, Gaetano Terrone, Leonilda Bilo, Antonietta Coppola

Int J Mol Sci. 2024 Apr; 25(7): 4110. Published online 2024 Apr 8. doi: 10.3390/ijms25074110

PMCID:: PMC11012983

Article PDF–18M

Select item 1099771119.

Mitochondrial dysfunction in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome: prospect use of antioxidants and mitochondrial nutrients

Giovanni Pagano, Alex Lyakhovich, Federico V. Pallardó, Luca Tiano, Adriana Zatterale, Marco Trifuoggi

Mol Biol Rep. 2024; 51(1): 480. Published online 2024 Apr 5. doi: 10.1007/s11033-024-09415-7

PMCID:: PMC10997711

Article PDF–791K

Select item 1098428820.

Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report

Denis M. Nyaga, Michael S. Hildebrand, Guillem de Valles‐Ibáñez, Ngaire F. Keenan, Zimeng Ye, Christy W. LaFlamme, Heather C. Mefford, Mark F. Bennett, Melanie Bahlo, Lynette G. Sadleir

Epilepsia Open. 2024 Apr; 9(2): 758–764. Published online 2024 Jan 5. doi: 10.1002/epi4.12887

PMCID:: PMC10984288

Article PDF–1.5M

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