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Select item 110763361.

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature

Ettore Cioffi, Gianluca Coppola, Olimpia Musumeci, Salvatore Gallone, Gabriella Silvestri, Salvatore Rossi, Fiorella Piemonte, Jessica D’Amico, Alessandra Tessa, Filippo Maria Santorelli, Carlo Casali

Neurogenetics. 2024; 25(2): 51–67. Published online 2024 Feb 9. doi: 10.1007/s10048-024-00749-9

PMCID:: PMC11076336

Abstract Article PDF–1.1M

Select item 110690542.

Plasma exosomes impair microglial degradation of α‐synuclein through V‐ATPase subunit V1G1

Yunna Li, Yiming Wang, Liang Kou, Sijia Yin, Xiaosa Chi, Yadi Sun, Jiawei Wu, Zongjie Jin, Qiulu Zhou, Wenkai Zou, Tao Wang, Yun Xia

CNS Neurosci Ther. 2024 May; 30(5): e14738. Published online 2024 May 3. doi: 10.1111/cns.14738

PMCID:: PMC11069054

Abstract Article PDF–25M

Select item 110480973.

Mice Mutated in the First Fibronectin Domain of Adhesion Molecule L1 Show Brain Malformations and Behavioral Abnormalities

Viviana Granato, Ludovica Congiu, Igor Jakovcevski, Ralf Kleene, Benjamin Schwindenhammer, Luciana Fernandes, Sandra Freitag, Melitta Schachner, Gabriele Loers

Biomolecules. 2024 Apr; 14(4): 468. Published online 2024 Apr 11. doi: 10.3390/biom14040468

PMCID:: PMC11048097

Abstract Article PDF–3.5M

Select item 110453894.

Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an ATP1A1 Variant

Gaku Okumura, Katsuya Nakamura, Rie Seyama, Yuri Uchiyama, Jun Shinagawa, Shinya Nishio, Junji Ikeda, Shohei Takayama, Minori Kodaira, Tomoki Kosho, Yutaka Takumi, Naomichi Matsumoto, Yoshiki Sekijima

Intern Med. 2024 Apr 1; 63(7): 1005–1008. Published online 2023 Aug 9. doi: 10.2169/internalmedicine.1935-23

PMCID:: PMC11045389

Abstract Article PDF–519K

Select item 110110675.

An Automated Imaging-Based Screen for Genetic Modulators of ER Organisation in Cultured Human Cells

M. Elena Garcia-Pardo, Jeremy C. Simpson, Niamh C. O’Sullivan

Cells. 2024 Apr; 13(7): 577. Published online 2024 Mar 26. doi: 10.3390/cells13070577

PMCID:: PMC11011067

Abstract Article PDF–4.7M

Select item 109630086.

KCTD10 regulates brain development by destabilizing brain disorder–associated protein KCTD13

Jianbo Cheng, Zhen Wang, Manpei Tang, Wen Zhang, Guozhong Li, Senwei Tan, Chenjun Mu, Mengyuan Hu, Dan Zhang, Xiangbin Jia, Yangxuan Wen, Hui Guo, Dan Xu, Liang Liu, Jiada Li, Kun Xia, Faxiang Li, Ranhui Duan, Zhiheng Xu, Ling Yuan

Proc Natl Acad Sci U S A. 2024 Mar 19; 121(12): e2315707121. Published online 2024 Mar 15. doi: 10.1073/pnas.2315707121

PMCID:: PMC10963008

Abstract Article PDF–20M

Select item 109303017.

BRAF基因突变所致心-面-皮肤综合征1例并文献复习

陈柏谕, 陈施梦, 熊娟, 尹飞

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021 Apr 28; 46(4): 432–437. Chinese. doi: 10.11817/j.issn.1672-7347.2021.190756

PMCID:: PMC10930301

Abstract Article PDF–1011K

Select item 109299048.

遗传性压力易感性周围神经病24个家系的临床和分子遗传学特征及文献回顾

曹婉芊, 黄顺祥, 赵华栋, 黎中政, 朱习影, 刘蕾, 张如旭

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023 Oct 28; 48(10): 1572–1582. Chinese. doi: 10.11817/j.issn.1672-7347.2023.230116

PMCID:: PMC10929904

Abstract Article PDF–1.5M

Select item 109297759.

一个早老素2基因突变导致的早发家族性阿尔茨海默病家系

李郴萍, 肖学文, 王俊岭, 沈璐, 焦彬

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021 Feb 28; 46(2): 189–194. Chinese. doi: 10.11817/j.issn.1672-7347.2021.190616

PMCID:: PMC10929775

Abstract Article PDF–1.1M

Select item 1089538010.

Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café‐au‐lait spots, and metabolic abnormality

Qi Yang, Shan Ou, Xunzhao Zhou, Sheng Yi, Li Lin, Shang Yi, Shujie Zhang, Zailong Qin, Jingsi Luo

Mol Genet Genomic Med. 2024 Feb; 12(2): e2408. Published online 2024 Feb 26. doi: 10.1002/mgg3.2408

PMCID:: PMC10895380

Abstract Article PDF–1.1M

Select item 1077939211.

SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability

Matthew P. O’Brien, Marina V. Pryzhkova, Evelyn M. R. Lake, Francesca Mandino, Xilin Shen, Ruchika Karnik, Alisa Atkins, Michelle J. Xu, Weizhen Ji, Monica Konstantino, Martina Brueckner, Laura R. Ment, Mustafa K. Khokha, Philip W. Jordan

Int J Mol Sci. 2024 Jan; 25(1): 430. Published online 2023 Dec 28. doi: 10.3390/ijms25010430

PMCID:: PMC10779392

Abstract Article PDF–3.7M

Select item 1076999112.

The relationship between disease-specific psychosocial stressors and depressive symptoms in Huntington’s disease

Hiba Bilal, Ian H. Harding, Julie C. Stout

J Neurol. 2024; 271(1): 289–299. Published online 2023 Sep 11. doi: 10.1007/s00415-023-11982-x

PMCID:: PMC10769991

Abstract Article PDF–566K

Select item 1076809713.

A case report of peroneal muscle atrophy type 2A2 with central nervous system involvement as initial presentation

Xin Xu, Fen Lu, Senjie Du, Li Zhang

BMC Pediatr. 2024; 24: 21. Published online 2024 Jan 5. doi: 10.1186/s12887-023-04441-z

PMCID:: PMC10768097

Abstract Article PDF–1.5M

Select item 1076418814.

六例KIF1A基因变异相关常染色体显性遗传神经发育障碍患儿临床和遗传学分析

林静琦, 李牛, 姚如恩, 郁婷婷, 王秀敏, 王剑

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Dec 25; 52(6): 693–700. Chinese. Published online 2023 Dec 12. doi: 10.3724/zdxbyxb-2023-0457

PMCID:: PMC10764188

Abstract Article PDF–2.6M

Select item 1073996615.

ANKS1B encoded AIDA-1 regulates social behaviors by controlling oligodendrocyte function

Chang Hoon Cho, Ilana Vasilisa Deyneko, Dylann Cordova-Martinez, Juan Vazquez, Anne S. Maguire, Jenny R. Diaz, Abigail U. Carbonell, Jaafar O. Tindi, Min-Hui Cui, Roman Fleysher, Sophie Molholm, Michael L. Lipton, Craig A. Branch, Louis Hodgson, Bryen A. Jordan

Nat Commun. 2023; 14: 8499. Published online 2023 Dec 21. doi: 10.1038/s41467-023-43438-1

PMCID:: PMC10739966

Abstract Article PDF–29M

Select item 1069001916.

Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression

Hector Garcia-Moreno, Douglas R Langbehn, Adesoji Abiona, Isabel Garrood, Zofia Fleszar, Marta Antonia Manes, Ana M Susana Morley, Emma Craythorne, Shehla Mohammed, Tanya Henshaw, Sally Turner, Harsha Naik, Istvan Bodi, Robert P E Sarkany, Hiva Fassihi, Alan R Lehmann, Paola Giunti

Brain. 2023 Dec; 146(12): 5044–5059. Published online 2023 Dec 1. doi: 10.1093/brain/awad266

PMCID:: PMC10690019

Abstract Article PDF–513K

Select item 1063461717.

Breathing and Oxygen Carrying Capacity in Ts65Dn and Down Syndrome

Lara R DeRuisseau, Candace N Receno, Caitlin Cunningham, Melissa L Bates, Morgan Goodell, Chen Liang, Brianna Eassa, Jessica Pascolla, Keith C DeRuisseau

Function (Oxf) 2023; 4(6): zqad058. Published online 2023 Oct 6. doi: 10.1093/function/zqad058

PMCID:: PMC10634617

Abstract Article PDF–1.0M

Select item 1061761818.

Glb1 knockout mouse model shares natural history with Type II GM1 gangliosidosis patients

Elena-Raluca Nicoli, Mylene Huebecker, Sangwoo T. Han, Karolyn Garcia, Jeeva Munasinghe, Martin Lizak, Yvonne Latour, Robin Yoon, Brianna Glase, Michal Tyrlik, Morteza Peiravi, Danielle Springer, Eva H. Baker, David Priestman, Rohini Sidhu, Pamela Kell, Xuntian Jiang, Josephine Kolstad, Anna Luisa Kuhn, Mohammed Salman Shazeeb, Maria T. Acosta, Richard L. Proia, Frances M. Platt, Cynthia J. Tifft

Mol Genet Metab. Author manuscript; available in PMC 2024 Feb 1.

Published in final edited form as: Mol Genet Metab. 2023 Feb; 138(2): 107508. Published online 2023 Jan 13. doi: 10.1016/j.ymgme.2023.107508

PMCID:: PMC10617618

Abstract Article PDF–1.7M

Select item 1049604919.

A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review

Shiyang Gao, Qianwen Zhang, Biyun Feng, Shili Gu, Zhiying Li, Lianping Sun, Ru‐en Yao, Tingting Yu, Yu Ding, Xiumin Wang

Mol Genet Genomic Med. 2023 Sep; 11(9): e2235. Published online 2023 Jul 19. doi: 10.1002/mgg3.2235

PMCID:: PMC10496049

Abstract Article PDF–1.2M

Select item 1041261120.

Abnormal spectral and scale-free properties of resting-state EEG in girls with Rett syndrome

Olga Sysoeva, Vladimir Maximenko, Alexander Kuc, Victoria Voinova, Olga Martynova, Alexander Hramov

Sci Rep. 2023; 13: 12932. Published online 2023 Aug 9. doi: 10.1038/s41598-023-39398-7

PMCID:: PMC10412611

Abstract Article PDF–2.6M

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