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Items: 1 to 20 of 211

1.
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
AbstractArticlePDF–254K
2.
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
AbstractArticlePDF–220K
3.
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
AbstractArticlePDF–992K
4.
Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study
Joseph Muenzer, Barbara K. Burton, Paul Harmatz, Luis González Gutiérrez-Solana, Matilde Ruiz-Garcia, Simon A. Jones, Nathalie Guffon, Michal Inbar-Feigenberg, Drago Bratkovic, Michael Hale, Yuna Wu, Karen S. Yee, David A.H. Whiteman, David Alexanderian
Mol Genet Metab. Author manuscript; available in PMC 2024 Jan 30.
Published in final edited form as: Mol Genet Metab. 2022 Sep-Oct; 137(1-2): 127–139. Published online 2022 Aug 2. doi: 10.1016/j.ymgme.2022.07.017
Correction in:
Mol Genet Metab. 2023 Aug 3 : 107645.
PMCID:
PMC10826424
AbstractArticlePDF–874K
5.
A new physiological medium uncovers biochemical and cellular alterations in Lesch-Nyhan disease fibroblasts
Paula Escudero-Ferruz, Neus Ontiveros, Claudia Cano-Estrada, Diane J. Sutcliffe, H. A. Jinnah, Rosa J. Torres, José M. López
Mol Med. 2024; 30: 3. Published online 2024 Jan 3. doi: 10.1186/s10020-023-00774-8
PMCID:
PMC10765874
AbstractArticlePDF–3.9M
6.
Associations Among Diurnal Salivary Cortisol Patterns, Medication Use, and Behavioral Phenotype Features in a Community Sample of Rett Syndrome
Breanne J. Byiers, Ameante Payen, Timothy Feyma, Angela Panoskaltsis-Mortari, Michael J. Ehrhardt, Frank J. Symons
Am J Intellect Dev Disabil. Author manuscript; available in PMC 2023 Dec 6.
Published in final edited form as: Am J Intellect Dev Disabil. 2020 Sep 1; 125(5): 353–368. doi: 10.1352/1944-7558-125.5.353
PMCID:
PMC10699094
AbstractArticlePDF–782K
7.
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy
Vincenza Gragnaniello, Daniela Gueraldi, Andrea Puma, Anna Commone, Chiara Cazzorla, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Ronald J. A. Wanders, Alberto Burlina
Orphanet J Rare Dis. 2023; 18: 358. Published online 2023 Nov 16. doi: 10.1186/s13023-023-02940-x
PMCID:
PMC10652488
AbstractArticlePDF–1.1M
8.
Lis1 relieves cytoplasmic dynein-1 autoinhibition by acting as a molecular wedge
Eva P. Karasmanis, Janice M. Reimer, Agnieszka A. Kendrick, Kendrick H. V. Nguyen, Jennifer A. Rodriguez, Joey B. Truong, Indrajit Lahiri, Samara L. Reck-Peterson, Andres E. Leschziner
Nat Struct Mol Biol. 2023; 30(9): 1357–1364. Published online 2023 Aug 24. doi: 10.1038/s41594-023-01069-6
PMCID:
PMC10497415
AbstractArticlePDF–7.1M
9.
Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs
Guillaume Cogan, Nicolas Bourgon, Roxana Borghese, Emmanuel Julien, Aurélia Jaquette, Bertrand Stos, Amale Achaiaa, Sophie Chuon, Patrick Nitschke, Cécile Fourrage, Julien Stirnemann, Lucile Boutaud, Tania Attie‐Bitach
Mol Genet Genomic Med. 2023 Sep; 11(9): e2219. Published online 2023 Jun 23. doi: 10.1002/mgg3.2219
PMCID:
PMC10496051
AbstractArticlePDF–573K
10.
Ethics in pre-ART genetics: a missed X-linked Menkes disease case
A.-M. A. Gerdes, L. Birk Møller, N. Horn
J Assist Reprod Genet. 2023 Apr; 40(4): 811–816. Published online 2023 Mar 30. doi: 10.1007/s10815-023-02778-z
PMCID:
PMC10224873
AbstractArticlePDF–532K
11.
MECP2 duplication syndrome initially misdiagnosed as cerebral palsy: a case report
Tae-Yong Kim, Su-Ji Lee, Kyung-Min Kim, Sung-Rae Cho
J Int Med Res. 2023 Mar; 51(3): 03000605231162452. Published online 2023 Mar 29. doi: 10.1177/03000605231162452
PMCID:
PMC10064467
AbstractArticlePDF–527K
12.
Global prevalence of Rett syndrome: systematic review and meta-analysis
Uarda Petriti, Daniel C. Dudman, Emil Scosyrev, Sandra Lopez-Leon
Syst Rev. 2023; 12: 5. Published online 2023 Jan 16. doi: 10.1186/s13643-023-02169-6
PMCID:
PMC9841621
AbstractArticlePDF–1.3M
13.
The diagnostic experience of women with fragile X–associated primary ovarian insufficiency (FXPOI)
Bonnie Poteet, Nadia Ali, Cecelia Bellcross, Stephanie L. Sherman, Whitney Espinel, Heather Hipp, Emily G. Allen
J Assist Reprod Genet. 2023 Jan; 40(1): 179–190. Published online 2022 Nov 30. doi: 10.1007/s10815-022-02671-1
PMCID:
PMC9840735
AbstractArticlePDF–728K
14.
Simulations of Pathogenic E1α Variants: Allostery and Impact on Pyruvate Dehydrogenase Complex-E1 Structure and Function
Hatice Gokcan, Jirair K. Bedoyan, Olexandr Isayev
J Chem Inf Model. Author manuscript; available in PMC 2022 Jul 28.
Published in final edited form as: J Chem Inf Model. 2022 Jul 25; 62(14): 3463–3475. Published online 2022 Jul 7. doi: 10.1021/acs.jcim.2c00630
PMCID:
PMC9329271
AbstractArticlePDF–3.3M
15.
Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC-E1 structure and function
Nicole H. Ducich, Jason A. Mears, Jirair K. Bedoyan
J Inherit Metab Dis. Author manuscript; available in PMC 2022 Jul 20.
Published in final edited form as: J Inherit Metab Dis. 2022 May; 45(3): 557–570. Published online 2022 Feb 1. doi: 10.1002/jimd.12477
PMCID:
PMC9297371
AbstractArticlePDF–2.2M
16.
Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome
Christina G. Tise, Dena R. Matalon, Melanie A. Manning, Heather M. Byers, Monica Grover
J Investig Med High Impact Case Rep. 2022 Jan-Dec; 10: 23247096221101844. Published online 2022 May 31. doi: 10.1177/23247096221101844
PMCID:
PMC9160898
AbstractArticlePDF–593K
17.
Neuropsychological changes in FMR1 premutation carriers and onset of fragile X-associated tremor/ataxia syndrome
Jessica Famula, Emilio Ferrer, Randi J. Hagerman, Flora Tassone, Andrea Schneider, Susan M. Rivera, David Hessl
J Neurodev Disord. 2022; 14: 23. Published online 2022 Mar 23. doi: 10.1186/s11689-022-09436-y
PMCID:
PMC8942145
AbstractArticlePDF–733K
18.
Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?
Aleksandra Jezela-Stanek, Paulina Pokora, Marlena Młynek, Marta Smyk, Kamila Ziemkiewicz, Agnieszka Różdżyńska-Świątkowska, Anna Tylki-Szymańska
Clin Dysmorphol. 2021 Apr; 30(2): 76–82. Published online 2020 Dec 7. doi: 10.1097/MCD.0000000000000344
PMCID:
PMC8868176
AbstractArticlePDF–945K
19.
In vivo gene editing via homology-independent targeted integration for adrenoleukodystrophy treatment
Sung-Ah Hong, Jung Hwa Seo, Soohyun Wi, Eul Sik Jung, Jihyeon Yu, Gue-Ho Hwang, Ji Hea Yu, Ahreum Baek, Soeon Park, Sangsu Bae, Sung-Rae Cho
Mol Ther. 2022 Jan 5; 30(1): 119–129. Published online 2021 May 29. doi: 10.1016/j.ymthe.2021.05.022
PMCID:
PMC8753287
AbstractArticlePDF–1.7M
20.
Screening for FMR1 CGG Repeat Expansion in Thai Patients with Autism Spectrum Disorder
Areerat Hnoonual, Charunee Jankittunpaiboon, Pornprot Limprasert
Biomed Res Int. 2021; 2021: 4359308. Published online 2021 Dec 8. doi: 10.1155/2021/4359308
PMCID:
PMC8674057
AbstractArticlePDF–484K

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