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Items: 1 to 20 of 43

1.
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients
I Longo, S Frints, J Fryns, I Meloni, C Pescucci, F Ariani, M Borghgraef, M Raynaud, P Marynen, C Schwartz, A Renieri, G Froyen
J Med Genet. 2003 Jan; 40(1): 11–17. doi: 10.1136/jmg.40.1.11
PMCID:
PMC1735250
SummaryPDF–247K
2.
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
ArticlePDF–715K
3.
Fragile X-Associated Neuropsychiatric Disorders (FXAND) in Young Fragile X Premutation Carriers
Ramkumar Aishworiya, Dragana Protic, Si Jie Tang, Andrea Schneider, Flora Tassone, Randi Hagerman
Genes (Basel) 2022 Dec; 13(12): 2399. Published online 2022 Dec 17. doi: 10.3390/genes13122399
PMCID:
PMC9778214
ArticlePDF–553K
4.
Efficacy and safety of cannabidivarin treatment of epilepsy in girls with Rett syndrome: A phase 1 clinical trial
Ellen N. Hurley, Carolyn J. Ellaway, Alexandra M. Johnson, Linda Truong, Rebecca Gordon, Peter Galettis, Jennifer H. Martin, John A. Lawson
Epilepsia. 2022 Jul; 63(7): 1736–1747. Published online 2022 Apr 20. doi: 10.1111/epi.17247
PMCID:
PMC9544893
ArticlePDF–615K
5.
Myocardial Strain and Association With Clinical Outcomes in Danon Disease: A Model for Monitoring Progression of Genetic Cardiomyopathies
Quan M. Bui, Kimberly N. Hong, Megan Kraushaar, Gary S. Ma, Michela Brambatti, Andrew M. Kahn, Carol Elias Battiha, Kylie Boynton, Garrett Storm, Luisa Mestroni, Matthew R. G. Taylor, Anthony N. DeMaria, Eric A. Adler
J Am Heart Assoc. 2021 Dec 7; 10(23): e022544. Published online 2021 Nov 30. doi: 10.1161/JAHA.121.022544
PMCID:
PMC9075351
ArticlePDF–830K
6.
NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges
Jean-Marc Good, Isis Atallah, Mayte Castro Jimenez, David Benninger, Thierry Kuntzer, Andrea Superti-Furga, Christel Tran
Genes (Basel) 2021 May; 12(5): 695. Published online 2021 May 6. doi: 10.3390/genes12050695
PMCID:
PMC8148126
ArticlePDF–1.2M
7.
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
8.
Suppressor mutations in Mecp2-null mice implicate the DNA damage response in Rett syndrome pathology
Adebola Enikanolaiye, Julie Ruston, Rong Zeng, Christine Taylor, Marijke Schrock, Christie M. Buchovecky, Jay Shendure, Elif Acar, Monica J. Justice
Genome Res. 2020 Apr; 30(4): 540–552. doi: 10.1101/gr.258400.119
PMCID:
PMC7197480
ArticlePDF–2.8M
9.
Clustering of comorbid conditions among women who carry an FMR1 premutation
Emily Graves Allen, Krista Charen, Heather S. Hipp, Lisa Shubeck, Ashima Amin, Weiya He, Jessica Ezzell Hunter, Stephanie L. Sherman
Genet Med. 2020; 22(4): 758–766. Published online 2020 Jan 3. doi: 10.1038/s41436-019-0733-5
PMCID:
PMC7118023
ArticlePDF–529K
10.
MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2
Alexia Martínez de Paz, Leila Khajavi, Hélène Martin, Rafael Claveria-Gimeno, Susanne Tom Dieck, Manjinder S. Cheema, Jose V. Sanchez-Mut, Malgorzata M. Moksa, Annaick Carles, Nick I. Brodie, Taimoor I. Sheikh, Melissa E. Freeman, Evgeniy V. Petrotchenko, Christoph H. Borchers, Erin M. Schuman, Matthias Zytnicki, Adrian Velazquez-Campoy, Olga Abian, Martin Hirst, Manel Esteller, John B. Vincent, Cécile E. Malnou, Juan Ausió
Epigenetics Chromatin. 2019; 12: 63. Published online 2019 Oct 10. doi: 10.1186/s13072-019-0298-1
PMCID:
PMC6786283
ArticlePDF–6.6M
11.
Functional Motor Control Deficits in Older FMR1 Premutation Carriers
Seoung Hoon Park, Zheng Wang, Walker McKinney, Pravin Khemani, Su Lui, Evangelos A. Christou, Matthew W. Mosconi
Exp Brain Res. Author manuscript; available in PMC 2020 Sep 1.
Published in final edited form as: Exp Brain Res. 2019 Sep; 237(9): 2269–2278. Published online 2019 Jun 3. doi: 10.1007/s00221-019-05566-3
PMCID:
PMC6679741
ArticlePDF–447K
12.
Spectrum and time course of epilepsy and the associated cognitive decline in MECP2 duplication syndrome
Dana Marafi, Bernhard Suter, Rebecca Schultz, Daniel Glaze, Valory N. Pavlik, Alica M. Goldman
Neurology. 2019 Jan 8; 92(2): e108–e114. doi: 10.1212/WNL.0000000000006742
PMCID:
PMC6340341
ArticlePDF–162K
13.
Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life
Yuka Mori, Jenny Downs, Kingsley Wong, Barbara Anderson, Amy Epstein, Helen Leonard
Orphanet J Rare Dis. 2017; 12: 16. Published online 2017 Jan 19. doi: 10.1186/s13023-016-0563-3
PMCID:
PMC5248472
ArticlePDF–476K
14.
A Christianson syndrome-linked deletion mutation (∆287ES288) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death
Alina Ilie, Andy Y. L. Gao, Jonathan Reid, Annie Boucher, Cassandra McEwan, Hervé Barrière, Gergely L. Lukacs, R. Anne McKinney, John Orlowski
Mol Neurodegener. 2016; 11(1): 63. Published online 2016 Sep 2. doi: 10.1186/s13024-016-0129-9
PMCID:
PMC5010692
ArticlePDF–2.6M
15.
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability
Raman Kumar, Mark A. Corbett, Bregje W.M. van Bon, Joshua A. Woenig, Lloyd Weir, Evelyn Douglas, Kathryn L. Friend, Alison Gardner, Marie Shaw, Lachlan A. Jolly, Chuan Tan, Matthew F. Hunter, Anna Hackett, Michael Field, Elizabeth E. Palmer, Melanie Leffler, Carolyn Rogers, Jackie Boyle, Melanie Bienek, Corinna Jensen, Griet Van Buggenhout, Hilde Van Esch, Katrin Hoffmann, Martine Raynaud, Huiying Zhao, Robin Reed, Hao Hu, Stefan A. Haas, Eric Haan, Vera M. Kalscheuer, Jozef Gecz
Am J Hum Genet. 2015 Aug 6; 97(2): 302–310. doi: 10.1016/j.ajhg.2015.05.021
PMCID:
PMC4573269
ArticlePDF–1.4M
16.
Somatic Mutations in Cerebral Cortical Malformations
Saumya S. Jamuar, Anh-Thu N. Lam, Martin Kircher, Alissa M. D'Gama, Jian Wang, Brenda J. Barry, Xiaochang Zhang, Robert Sean Hill, Jennifer N. Partlow, Aldo Rozzo, Sarah Servattalab, Bhaven K. Mehta, Meral Topcu, Dina Amrom, Eva Andermann, Bernard Dan, Elena Parrini, Renzo Guerrini, Ingrid E. Scheffer, Samuel F. Berkovic, Richard J. Leventer, Yiping Shen, Bai Lin Wu, A. James Barkovich, Mustafa Sahin, Bernard S. Chang, Michael Bamshad, Deborah A. Nickerson, Jay Shendure, Annapurna Poduri, Timothy W. Yu, Christopher A. Walsh
N Engl J Med. Author manuscript; available in PMC 2015 Feb 21.
Published in final edited form as: N Engl J Med. 2014 Aug 21; 371(8): 733–743. doi: 10.1056/NEJMoa1314432
PMCID:
PMC4274952
ArticlePDF–1.0M
17.
Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain
María-Isabel Tejada, Guillermo Glover, Francisco Martínez, Miriam Guitart, Yolanda de Diego-Otero, Isabel Fernández-Carvajal, Feliciano J. Ramos, Concepción Hernández-Chico, Elizabet Pintado, Jordi Rosell, María-Teresa Calvo, Carmen Ayuso, María-Antonia Ramos-Arroyo, Hiart Maortua, Montserrat Milà
Biomed Res Int. 2014; 2014: 195793. Published online 2014 May 28. doi: 10.1155/2014/195793
PMCID:
PMC4058505
ArticlePDF–572K
18.
Subclinical Inflammatory Status in Rett Syndrome
Alessio Cortelazzo, Claudio De Felice, Roberto Guerranti, Cinzia Signorini, Silvia Leoncini, Alessandra Pecorelli, Gloria Zollo, Claudia Landi, Giuseppe Valacchi, Lucia Ciccoli, Luca Bini, Joussef Hayek
Mediators Inflamm. 2014; 2014: 480980. Published online 2014 Jan 6. doi: 10.1155/2014/480980
PMCID:
PMC3913335
ArticlePDF–2.8M
19.
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia
F E Abidi, L Holloway, C A Moore, D D Weaver, R J Simensen, R E Stevenson, R C Rogers, C E Schwartz
J Med Genet. Author manuscript; available in PMC 2013 Jul 15.
Published in final edited form as: J Med Genet. 2008 Dec; 45(12): 787–793. Published online 2008 Aug 12. doi: 10.1136/jmg.2008.058990
PMCID:
PMC3711528
ArticlePDF–1.9M
20.
Identification of Expanded Alleles of the FMR1 Gene Among High-Risk Population in Indonesia by Using Blood Spot Screening
Tri Indah Winarni, Agustini Utari, Farmaditya E.P. Mundhofir, Tzuhan Tong, Blythe Durbin-Johnson, Sultana M.H. Faradz, Flora Tassone
Genet Test Mol Biomarkers. 2012 Mar; 16(3): 162–166. doi: 10.1089/gtmb.2011.0089
PMCID:
PMC3306584
ArticlePDF–180K

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