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Items: 1 to 20 of 500

1.
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
ArticlePubReaderPDF–1.1MCite
2.
Functional analysis of two SLC9A6 frameshift variants in lymphoblastoid cells from patients with Christianson syndrome
Hailan He, Huiwen Zhang, Hui Chen, Fang He, Fei Yin, Tobias Stauber, Xiaomin Zou, Jing Peng
CNS Neurosci Ther. 2023 Dec; 29(12): 4059–4069. Published online 2023 Jun 28. doi: 10.1111/cns.14329
PMCID:
PMC10651982
ArticlePubReaderPDF–6.3MCite
3.
Deciphering neuronal deficit and protein profile changes in human brain organoids from patients with creatine transporter deficiency
Léa Broca-Brisson, Rania Harati, Clémence Disdier, Orsolya Mozner, Romane Gaston-Breton, Auriane Maïza, Narciso Costa, Anne-Cécile Guyot, Balazs Sarkadi, Agota Apati, Matthew R Skelton, Lucie Madrange, Frank Yates, Jean Armengaud, Rifat Hamoudi, Aloïse Mabondzo
eLife. 2023; 12: RP88459. Published online 2023 Oct 13. doi: 10.7554/eLife.88459
PMCID:
PMC10575631
ArticlePubReaderPDF–10MCite
4.
Exploration of SUMO2/3 Expression Levels and Autophagy Process in Fragile X-Associated Tremor/Ataxia Syndrome: Addressing Study Limitations and Insights for Future Research
Maria Isabel Alvarez-Mora, Glòria Garrabou, Laura Molina-Porcel, Ruben Grillo-Risco, Francisco Garcia-Garcia, Tamara Barcos, Judith Cantó-Santos, Laia Rodriguez-Revenga
Cells. 2023 Oct; 12(19): 2364. Published online 2023 Sep 26. doi: 10.3390/cells12192364
PMCID:
PMC10571773
ArticlePubReaderPDF–1.6MCite
5.
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation
Flora Tassone, Dragana Protic, Emily Graves Allen, Alison D. Archibald, Anna Baud, Ted W. Brown, Dejan B. Budimirovic, Jonathan Cohen, Brett Dufour, Rachel Eiges, Nicola Elvassore, Lidia V. Gabis, Samantha J. Grudzien, Deborah A. Hall, David Hessl, Abigail Hogan, Jessica Ezzell Hunter, Peng Jin, Poonnada Jiraanont, Jessica Klusek, R. Frank Kooy, Claudine M. Kraan, Cecilia Laterza, Andrea Lee, Karen Lipworth, Molly Losh, Danuta Loesch, Reymundo Lozano, Marsha R. Mailick, Apostolos Manolopoulos, Veronica Martinez-Cerdeno, Yingratana McLennan, Robert M. Miller, Federica Alice Maria Montanaro, Matthew W. Mosconi, Sarah Nelson Potter, Melissa Raspa, Susan M. Rivera, Katharine Shelly, Peter K. Todd, Katarzyna Tutak, Jun Yi Wang, Anne Wheeler, Tri Indah Winarni, Marwa Zafarullah, Randi J. Hagerman
Cells. 2023 Sep; 12(18): 2330. Published online 2023 Sep 21. doi: 10.3390/cells12182330
PMCID:
PMC10529056
ArticlePubReaderPDF–4.4MCite
6.
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach
Ainhoa Pascual-Alonso, Clara Xiol, Dmitrii Smirnov, Robert Kopajtich, Holger Prokisch, Judith Armstrong
Hum Genomics. 2023; 17: 85. Published online 2023 Sep 15. doi: 10.1186/s40246-023-00532-1
PMCID:
PMC10503149
ArticlePubReaderPDF–3.6MCite
7.
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
ArticlePubReaderPDF–573KCite
8.
Early Administration of the Phytocannabinoid Cannabidivarin Prevents the Neurobehavioral Abnormalities Associated with the Fmr1-KO Mouse Model of Fragile X Syndrome
Marika Premoli, William Fyke, Luigi Bellocchio, Valerie Lemaire, Marie Wolley-Roberts, Bruno Bontempi, Susanna Pietropaolo
Cells. 2023 Aug; 12(15): 1927. Published online 2023 Jul 25. doi: 10.3390/cells12151927
PMCID:
PMC10416983
ArticlePubReaderPDF–4.6MCite
9.
Evaluation of Novel Enhancer Compounds in Gentamicin-Mediated Readthrough of Nonsense Mutations in Rett Syndrome
Keit Men Wong, Eike Wegener, Alireza Baradaran-Heravi, Brenda Huppke, Jutta Gärtner, Peter Huppke
Int J Mol Sci. 2023 Jul; 24(14): 11665. Published online 2023 Jul 19. doi: 10.3390/ijms241411665
PMCID:
PMC10380790
ArticlePubReaderPDF–2.8MCite
10.
A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss
Spiros Vittas, Maria Bisba, Georgia Christopoulou, Loukia Apostolakopoulou, Roser Pons, Pantelis Constantoulakis
Genes (Basel) 2023 Jul; 14(7): 1333. Published online 2023 Jun 24. doi: 10.3390/genes14071333
PMCID:
PMC10379727
ArticlePubReaderPDF–2.9MCite
11.
Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X Syndrome
Ramkumar Aishworiya, Mei-Hung Chi, Marwa Zafarullah, Guadalupe Mendoza, Matthew Dominic Ponzini, Kyoungmi Kim, Hazel Maridith Barlahan Biag, Angela John Thurman, Leonard Abbeduto, David Hessl, Jamie Leah Randol, Francois V. Bolduc, Sebastien Jacquemont, Sarah Lippé, Paul Hagerman, Randi Hagerman, Andrea Schneider, Flora Tassone
Cells. 2023 Jul; 12(14): 1920. Published online 2023 Jul 24. doi: 10.3390/cells12141920
PMCID:
PMC10377864
ArticlePubReaderPDF–2.1MCite
12.
Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome
David E. Godler, Yoshimi Inaba, Minh Q. Bui, David Francis, Cindy Skinner, Charles E. Schwartz, David J. Amor
Int J Mol Sci. 2023 Jul; 24(13): 10712. Published online 2023 Jun 27. doi: 10.3390/ijms241310712
PMCID:
PMC10342127
ArticlePubReaderPDF–4.4MCite
13.
Assessing the performance of European-derived cardiometabolic polygenic risk scores in South-Asians and their interplay with family history
Emadeldin Hassanin, Carlo Maj, Hannah Klinkhammer, Peter Krawitz, Patrick May, Dheeraj Reddy Bobbili
BMC Med Genomics. 2023; 16: 164. Published online 2023 Jul 12. doi: 10.1186/s12920-023-01598-5
PMCID:
PMC10339617
ArticlePubReaderPDF–2.1MCite
14.
Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death
Deborah A. Hall, Sukriti Nag, Bichun Ouyang, David A. Bennett, Yuanqing Liu, Aisha Ali, Lili Zhou, Elizabeth Berry-Kravis
Mov Disord. Author manuscript; available in PMC 2023 Jul 11.
Published in final edited form as: Mov Disord. 2020 Aug; 35(8): 1448–1456. Published online 2020 May 28. doi: 10.1002/mds.28086
PMCID:
PMC10335806
ArticlePubReaderPDF–369KCite
15.
Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder
Joseph Nicho Gonzalez, Sylvie Goldman, Melissa T. Carter, Jennifer M. Bain
Genes (Basel) 2023 Jun; 14(6): 1154. Published online 2023 May 26. doi: 10.3390/genes14061154
PMCID:
PMC10298048
ArticlePubReaderPDF–480KCite
16.
Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome
Cristian-Gabriel Ciobanu, Irina Nucă, Roxana Popescu, Lucian-Mihai Antoci, Lavinia Caba, Anca Viorica Ivanov, Karina-Alexandra Cojocaru, Cristina Rusu, Cosmin-Teodor Mihai, Monica-Cristina Pânzaru
Int J Mol Sci. 2023 Jun; 24(11): 9206. Published online 2023 May 24. doi: 10.3390/ijms24119206
PMCID:
PMC10252420
ArticlePubReaderPDF–1.0MCite
17.
HCFC1 variants in the proteolysis domain are associated with X‐linked idiopathic partial epilepsy: Exploring the underlying mechanism
Na He, Bao‐Zhu Guan, Jie Wang, Han‐Kui Liu, Yong Mao, Zhi‐Gang Liu, Fei Yin, Jing Peng, Bo Xiao, Bei‐sha Tang, Dong Zhou, Guang Huang, Qi‐Lin Dai, Ying Zeng, Hong Han, Qiong‐Xiang Zhai, Bin Li, Bin Tang, Wen‐Bin Li, Wang Song, Liu Liu, Yi‐Wu Shi, Bing‐Mei Li, Tao Su, Peng Zhou, Xiao‐Rong Liu, Li‐Wu Guo, Yong‐Hong Yi, Wei‐Ping Liao
Clin Transl Med. 2023 Jun; 13(6): e1289. Published online 2023 Jun 1. doi: 10.1002/ctm2.1289
PMCID:
PMC10235798
ArticlePubReaderPDF–4.0MCite
18.
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders
Eric Frankel, Avijit Podder, Megan Sharifi, Roshan Pillai, Newell Belnap, Keri Ramsey, Julius Dodson, Pooja Venugopal, Molly Brzezinski, Lorida Llaci, Brittany Gerald, Gabrielle Mills, Meredith Sanchez-Castillo, Chris D. Balak, Szabolcs Szelinger, Wayne M. Jepsen, Ashley L. Siniard, Ryan Richholt, Marcus Naymik, Isabelle Schrauwen, David W. Craig, Ignazio S. Piras, Matthew J. Huentelman, Nicholas J. Schork, Vinodh Narayanan, Sampathkumar Rangasamy
Cells. 2023 May; 12(10): 1437. Published online 2023 May 21. doi: 10.3390/cells12101437
PMCID:
PMC10217403
ArticlePubReaderPDF–2.2MCite
19.
Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome
Qi Guo, Emi Kouyama-Suzuki, Yoshinori Shirai, Xueshan Cao, Toru Yanagawa, Takuma Mori, Katsuhiko Tabuchi
Cells. 2023 Apr; 12(8): 1177. Published online 2023 Apr 18. doi: 10.3390/cells12081177
PMCID:
PMC10136522
ArticlePubReaderPDF–3.5MCite
20.
Fragile X mental retardation protein coordinates neuron-to-glia communication for clearance of developmentally transient brain neurons
Chunzhu Song, Kendal Broadie
Proc Natl Acad Sci U S A. 2023 Mar 21; 120(12): e2216887120. Published online 2023 Mar 15. doi: 10.1073/pnas.2216887120
PMCID:
PMC10041173
ArticlePubReaderPDF–2.8MCite

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