Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln) by Nivedita U. Jerath, Tiffany Grider, Michael E. Shy

“…A recent advance in neurogenetics has allowed for more genes and mutations to be identified; over 76 different genetic loci for HSP and 59 gene products are currently known. …”
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Pharmacological approaches in drug-resistant pediatric epilepsies caused by pathogenic variants in potassium channel genes by Ilaria Filareto, Ilaria Mosca, Elena Freri, Francesca Ragona, Laura Canafoglia, Roberta Solazzi, Barbara Castellotti, Giuliana Messina, Cinzia Gellera, Maria Virginia Soldovieri, Paolo Ambrosino, Maurizio Taglialatela, Jacopo C. DiFrancesco, Tiziana Granata

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Genetic assimilation in the evolution of hominin neuroplasticity by Luiz do Valle Miranda

“…However, further studies in comparative genomics and neurogenetics are needed to fully understand how the evolutionary changes happened at the genetic level.…”
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Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome by Rama Krishna Sanjeev, Seema Kapoor, Manisha Goyal, Rajiv Kapur, Joseph Gerard Gleeson

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CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions by V. Montano, C. Simoncini, Cassi L. Calì, A. Legati, G. Siciliano, M. Mancuso

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Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln) by Sharmin Alhaque, Dimitri Budinger, Barbara Garavaglia, Giovanna Zorzi, Serena Barral, Manju A. Kurian

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Anxiety and depression in people with epilepsy during and one year after the COVID‐19 pandemic by Iris E. Martínez‐Juárez, Jimena Gonzalez‐Salido, Jimena Colado‐Martinez, Irving Fuentes‐Calvo, Santiago Philibert‐Rosas, E. Rodrigo Velásquez‐Coria, Salvador Martínez‐Medina, Mijail A. Rivas‐Cruz, Eithel Valenzuela‐Mendivil, Karen E. Guzmán‐Sánchez, Elizabeth M. Ruiz‐Peñaflor, Arnold R. Thomson‐Cerna, Emilia M. González‐Villagómez, Jimena Armenta‐Báez, Andrea Santos‐Peyret, Aurelio Jara‐Prado, Adriana Ochoa‐Morales, Daniel Crail‐Meléndez, Ángel Ruiz‐Chow, Mario A. Sebastián‐Díaz

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Advances in chromosomal microarray analysis: Transforming neurology and neurosurgery by Wireko Andrew Awuah, Muhammad Hamza Shah, Vivek Sanker, Krishitha Meenu Mannan, Sruthi Ranganathan, Princess Afia Nkrumah-Boateng, Mabel Frimpong, Kwadwo Darko, Joecelyn Kirani Tan, Toufik Abdul-Rahman, Oday Atallah

“…This review discusses CMA's pivotal role in bridging the gap between genomics and clinical practice, underscoring its potential to transform neurogenetics and ultimately improve patient care.…”
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Metformin for neurocognitive dysfunction in schizophrenia: a systematic review by Zhen-Juan Qin, Zhan-Ming Shi, Li-Juan Li, Xin Wei, Hui-Lin Hu, Wei Wei, Zhi-Yuan Xie, Hang-Xi Ji, Yu-Hua Wei, Wei Zheng, Wei Zheng

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Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing by Thomas Cassini, Sarah Silverstein, Molly Behan, Cynthia J. Tifft, May Christine Malicdan, David R. Adams, Undiagnosed Diseases Network, Sun‐Young Ahn, Debra S. Regier

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Remodeling of Mitochondria–Endoplasmic Reticulum Contact Sites Accompanies LUHMES Differentiation by Emad Norouzi Esfahani, Tomas Knedlik, Sang Hun Shin, Ana Paula Magalhães Rebelo, Agnese De Mario, Caterina Vianello, Luca Persano, Elena Rampazzo, Paolo Edomi, Camilla Bean, Dario Brunetti, Luca Scorrano, Samuele Greco, Marco Gerdol, Marta Giacomello

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QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration by Jayshree Advani, Puja A. Mehta, Andrew R. Hamel, Sudeep Mehrotra, Christina Kiel, Tobias Strunz, Ximena Corso-Díaz, Madeline Kwicklis, Freekje van Asten, Rinki Ratnapriya, Emily Y. Chew, Dena G. Hernandez, Sandra R. Montezuma, Deborah A. Ferrington, Bernhard H. F. Weber, Ayellet V. Segrè, Anand Swaroop

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Management of rare and undiagnosed diseases: insights from researchers and healthcare professionals in Türkiye by Sinem Durmus, Emrah Yucesan, Sinem Aktug, Begum Utz, Ahmet Okay Caglayan, Ahmet Okay Caglayan, Pinar Gencpinar, Cagatay Günay, Yavuz Oktay, Ravza Nur Yildirim, Ayca Yigit, Ugur Ozbek

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Assessment of mental health literacy using a multifaceted measure among a Chinese rural population by Liang Zhou, Shui-yuan Xiao, Mi Hu, Hui-ming Liu, Yu Yu, Zi-wei Liu, Xi-guang Liu, Joyce P Yang

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Factors Affecting Negative Symptoms in Schizophrenia and Their Relationship with Anxiety and Depression by Zeng G, Liang R, Xiao L, Cao W, Zhou W, Wang W, Liu C, Zhou H, Shi X, Chen B, Chen W

“…Gang Zeng,1,2,* Rongyu Liang,2,3,* Lingxian Xiao,2,4,* Weiye Cao,5 Wenqing Zhou,2,6 Wen Wang,5 Cuixia Liu,2,7 Huarong Zhou,1,2 Xiaolei Shi,1,2 Ben Chen,1,2 Wanhua Chen2,4 1Geriatric Neuroscience Center, The Affiliated Brain Hospital, Guangzhou Medical University, Guangzhou, People’s Republic of China; 2Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Guangzhou Medical University, Guangzhou, People’s Republic of China; 3Department of Geriatric Psychiatry, The Affiliated Brain Hospital, Guangzhou Medical University, Guangzhou, People’s Republic of China; 4Department of Nursing, The Affiliated Brain Hospital, Guangzhou Medical University, Guangzhou, People’s Republic of China; 5School of Nursing, Guangzhou Medical University, Guangzhou, People’s Republic of China; 6Adult Psychiatry Department, The Affiliated Brain Hospital, Guangzhou Medical University, Guangzhou, People’s Republic of China; 7Chronic Psychiatry Department, The Affiliated Brain Hospital, Guangzhou Medical University, Guangzhou, People’s Republic of China*These authors contributed equally to this workCorrespondence: Wenqing Zhou, Adult Psychiatry Department, Affiliated Brain Hospital of Guangzhou Medical University, 36 mingXin Road, Liwan District, Guangzhou, People’s Republic of China, Tel +86 15918636953, Email 996459134@qq.com Weiye Cao, School of Nursing, Guangzhou Medical University, 195 Dongfeng West Road, Yuexiu District, Guangzhou, People’s Republic of China, Tel +86 13149399874, Email 1271932456@qq.comObjective: Negative symptoms significantly impair daily functioning and worsen clinical outcomes. …”
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Associations of substance use and positive coping behaviors with sleep quality during the COVID-19 pandemic by Jessica Laudie, Bethany L. Stangl, Tommy Gunawan, Tommy Gunawan, Melanie L. Schwandt, Cecilia Cheng, Amanda K. Gilmore, Amanda K. Gilmore, David Goldman, David Goldman, Vijay A. Ramchandani, Nancy Diazgranados, Jeremy W. Luk

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MO-GCN: A multi-omics graph convolutional network for discriminative analysis of schizophrenia by Haiyuan Wang, Runlin Peng, Yuanyuan Huang, Liqin Liang, Wei Wang, Baoyuan Zhu, Chenyang Gao, Minxin Guo, Jing Zhou, Hehua Li, Xiaobo Li, Yuping Ning, Fengchun Wu, Kai Wu

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Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive att... by José Hernández-Rodríguez, Fernando Martínez-Valle, Xènia Acebes, Carmen Alerany, Jordi Antón, Gonzalo Calvo, Marian Corral, Jordi Cruz, M. Antònia Mangues-Bafalluy, José Mateo, Josefa Rivera, Albert Salazar, Roser Francisco, Cristina Mallol, Rita Reig-Viader, Ariadna Tigri-Santiña, Assumpta Ricart, Francesc Palau

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Pleiotropic effects of mutant huntingtin on retinopathy in two mouse models of Huntington's disease by Hui Xu, Anakha Ajayan, Ralf Langen, Jeannie Chen

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Edge-centric connectome-genetic markers of bridging factor to comorbidity between depression and anxiety by Zhiyi Chen, Yancheng Tang, Xuerong Liu, Wei Li, Yuanyuan Hu, Bowen Hu, Ting Xu, Rong Zhang, Lei Xia, Jing-Xuan Zhang, Zhibing Xiao, Ji Chen, Zhengzhi Feng, Yuan Zhou, Qinghua He, Jiang Qiu, Xu Lei, Hong Chen, Shaozheng Qin, Tingyong Feng

“…Our findings revealed a general factor of bridging symptoms and its neurobiological architectures, which enriched neurogenetic understanding of depression-anxiety comorbidity.…”
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