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Items: 1 to 20 of 500

1.
Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Stephen Ashwal, David Michelson, Lauren Plawner, William B. Dobyns
Neurology. 2009 Sep 15; 73(11): 887–897. doi: 10.1212/WNL.0b013e3181b783f7
PMCID:
PMC2744281
AbstractArticlePDF–1.9M
2.
Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada
Deirdre Weymann, John Buckell, Patrick Fahr, Rosalie Loewen, Morgan Ehman, Samantha Pollard, Jan M. Friedman, Sylvia Stockler-Ipsiroglu, Alison M. Elliott, Sarah Wordsworth, James Buchanan, Dean A. Regier
JAMA Netw Open. 2024 Jul; 7(7): e2420842. Published online 2024 Jul 10. doi: 10.1001/jamanetworkopen.2024.20842
PMCID:
PMC11238031
AbstractArticle
3.
Quantitative proteomics reveals CLR interactome in primary human cells
Dimitrios Manolis, Shirin Hasan, Anthony Maraveyas, Darragh P. O'Brien, Benedikt M. Kessler, Holger Kramer, Leonid L. Nikitenko
J Biol Chem. 2024 Jun; 300(6): 107399. Published online 2024 May 20. doi: 10.1016/j.jbc.2024.107399
PMCID:
PMC11231609
AbstractArticlePDF–3.1M
4.
Genetic evidence for causal association between migraine and dementia: a mendelian randomization study
Qiuyi Chen, Chengcheng Zhang, Shiyang Wu, Yiwei He, Yuhan Liu, Libin Zheng, Bin Li, Guiyou Liu, Lu Liu
BMC Med Genomics. 2024; 17: 180. Published online 2024 Jul 5. doi: 10.1186/s12920-024-01956-x
PMCID:
PMC11229492
AbstractArticlePDF–2.6M
5.
Identification of Polymorphisms in EAAT1 Glutamate Transporter Gene SLC1A3 Associated with Reduced Migraine Risk
Cassie L. Albury, Heidi G. Sutherland, Alexis W. Y. Lam, Ngan K. Tran, Rod A. Lea, Larisa M. Haupt, Lyn R. Griffiths
Genes (Basel) 2024 Jun; 15(6): 797. Published online 2024 Jun 18. doi: 10.3390/genes15060797
PMCID:
PMC11202508
AbstractArticlePDF–251K
6.
Genetic Correlations between Migraine and Carpal Tunnel Syndrome
Akira Wiberg, Maria A. Lucey, Sam Kleeman, Youngjoo Kang, Mike Ng, Dominic Furniss
Plast Reconstr Surg. 2024 Jul; 154(1): 126–134. Published online 2023 Aug 18. doi: 10.1097/PRS.0000000000010976
PMCID:
PMC11195923
AbstractArticlePDF–1.2M
7.
Genetic architecture of childhood speech disorder: a review
Angela T. Morgan, David J. Amor, Miya D. St John, Ingrid. E. Scheffer, Michael S. Hildebrand
Mol Psychiatry. 2024; 29(5): 1281–1292. Published online 2024 Feb 16. doi: 10.1038/s41380-024-02409-8
PMCID:
PMC11189821
AbstractArticlePDF–1.2M
8.
Pumilio-1 mediated translational control of claudin-5 at the blood-brain barrier
Yosuke Hashimoto, Chris Greene, Nicole Hanley, Natalie Hudson, David Henshall, Kieron J. Sweeney, Donncha F. O’Brien, Matthew Campbell
Fluids Barriers CNS. 2024; 21: 52. Published online 2024 Jun 19. doi: 10.1186/s12987-024-00553-5
PMCID:
PMC11188261
AbstractArticlePDF–11M
9.
Identifying novel proteins for migraine by integrating proteomes from blood and CSF with genome‐wide association data
Peng‐Peng Niu, Rui Zhang, Chan Zhang, Shuo Li, Yu‐Sheng Li
CNS Neurosci Ther. 2024 Jun; 30(6): e14817. Published online 2024 Jun 19. doi: 10.1111/cns.14817
PMCID:
PMC11186850
AbstractArticlePDF–4.2M
10.
In Silico Assisted Identification, Synthesis, and In Vitro Pharmacological Characterization of Potent and Selective Blockers of the Epilepsy-Associated KCNT1 Channel
Nunzio Iraci, Lidia Carotenuto, Tania Ciaglia, Giorgio Belperio, Francesca Di Matteo, Ilaria Mosca, Giusy Carleo, Manuela Giovanna Basilicata, Paolo Ambrosino, Rita Turcio, Deborah Puzo, Giacomo Pepe, Isabel Gomez-Monterrey, Maria Virginia Soldovieri, Veronica Di Sarno, Pietro Campiglia, Francesco Miceli, Alessia Bertamino, Carmine Ostacolo, Maurizio Taglialatela
J Med Chem. 2024 Jun 13; 67(11): 9124–9149. Published online 2024 May 23. doi: 10.1021/acs.jmedchem.4c00268
PMCID:
PMC11181338
AbstractArticlePDF–8.9M
11.
Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review
Hadassa Kwetsie, Malu van Schaijk, Sven Van Der Lee, Dederieke Maes-Festen, Leontine W. Ten Hoopen, Mieke M. van Haelst, Michael Coesmans, Esther Van Den Berg, Marie Claire Y. De Wit, Yolande Pijnenburg, Eleonora Aronica, Erik Boot, Agnies M. Van Eeghen
Neurology. 2024 Jun 11; 102(11): e209413. Published online 2024 May 17. doi: 10.1212/WNL.0000000000209413
PMCID:
PMC11175636
AbstractArticlePDF–715K
12.
Single-Base Gene Variants in MIR-146A and SCN1A Genes Related to the Epileptogenic Process in Drug-Responsive and Drug-Resistant Temporal Lobe Epilepsy—A Preliminary Study in a Brazilian Cohort Sample
Renata Parissi Buainain, André Rodrigues Sodré, Jéssica Silva dos Santos, Karen Antonia Girotto Takazaki, Luciano de Souza Queiroz, Carlos Tadeu Parisi de Oliveira, Paulo Henrique Pires de Aguiar, Fernando Augusto Lima Marson, Manoela Marques Ortega
Int J Mol Sci. 2024 Jun; 25(11): 6005. Published online 2024 May 30. doi: 10.3390/ijms25116005
PMCID:
PMC11172889
AbstractArticlePDF–510K
13.
Identifying therapeutic target genes for migraine by systematic druggable genome-wide Mendelian randomization
Chengcheng Zhang, Yiwei He, Lu Liu
J Headache Pain. 2024; 25(1): 100. Published online 2024 Jun 12. doi: 10.1186/s10194-024-01805-3
PMCID:
PMC11167905
AbstractArticlePDF–4.0M
14.
A cross-tissue transcriptome-wide association study reveals novel susceptibility genes for migraine
Jianxiong Gui, Xiaoyue Yang, Chen Tan, Lingman Wang, Linxue Meng, Ziyao Han, Jie Liu, Li Jiang
J Headache Pain. 2024; 25(1): 94. Published online 2024 Jun 5. doi: 10.1186/s10194-024-01802-6
PMCID:
PMC11151630
AbstractArticlePDF–2.8M
15.
Genetic evidence for the causal relationships between migraine, dementia, and longitudinal brain atrophy
Lei Zhao, Yilan Tang, Yiheng Tu, Jin Cao
J Headache Pain. 2024; 25(1): 93. Published online 2024 Jun 5. doi: 10.1186/s10194-024-01801-7
PMCID:
PMC11151614
AbstractArticlePDF–1.6M
16.
The search for migraine genes: an overview of current knowledge
N. J. Colson, F. Fernandez, R. A. Lea, L. R. Griffiths
Cell Mol Life Sci. 2007 Feb; 64(3): 331–344. Published online 2006 Dec 22. doi: 10.1007/s00018-006-5592-y
PMCID:
PMC11149465
AbstractArticlePDF–130K
17.
Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey
Sam Amin, Rikke S. Møller, Angel Aledo‐Serrano, Alexis Arzimanoglou, Patrick Bager, Sergiusz Jóźwiak, Gerhard Josef Kluger, Sandra López‐Cabeza, Rima Nabbout, Carol‐Anne Partridge, Susanne Schubert‐Bast, Nicola Specchio, Reetta Kälviäinen
Epilepsia Open. 2024 Jun; 9(3): 832–849. Published online 2024 Mar 7. doi: 10.1002/epi4.12914
PMCID:
PMC11145618
AbstractArticlePDF–6.2M
18.
Potassium channel‐related epilepsy: Pathogenesis and clinical features
Tong Zhao, Le Wang, Fang Chen
Epilepsia Open. 2024 Jun; 9(3): 891–905. Published online 2024 Apr 1. doi: 10.1002/epi4.12934
PMCID:
PMC11145612
AbstractArticlePDF–777K
19.
First report of Tunisian patients with CDKL5‐related encephalopathy
Chahnez Charfi Triki, Salma Zouari Mallouli, Marwa Ben Jdila, Mariem Ben Said, Fatma Kamoun Feki, Sarah Weckhuysen, Sabeur Masmoudi, Faiza Fakhfakh
Epilepsia Open. 2024 Jun; 9(3): 906–917. Published online 2024 Apr 29. doi: 10.1002/epi4.12824
PMCID:
PMC11145601
AbstractArticlePDF–619K
20.
HMG-CoA reductase is a potential therapeutic target for migraine: a mendelian randomization study
Kang Qu, Ming-xi Li, Peng Yu, International Headache Genetics Consortium, Bai-hua Wu, Miao Shi, Ming Dong
Sci Rep. 2024; 14: 12094. Published online 2024 May 27. doi: 10.1038/s41598-024-61628-9
PMCID:
PMC11130224
AbstractArticlePDF–3.6M

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