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Items: 1 to 20 of 35

1.
An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration
Amina Kurtovic-Kozaric, Moriel Singer-Berk, Jordan Wood, Emily Evangelista, Leena Panwala, Amanda Hope, Stefanie M. Heinrich, Samantha Baxter, Mark J. Kiel
Orphanet J Rare Dis. 2024; 19: 388. Published online 2024 Oct 18. doi: 10.1186/s13023-024-03275-x
PMCID:
PMC11489993
AbstractArticlePDF–1.2M
2.
The Clinical, Radiological and Genetic Spectrum of PLA2G6-Associated Neurodegeneration: An Experience From a Tertiary Center
Vikram V. Holla, M. M. Samim, Riyanka Kumari, Debjyoti Dhar, Prashant Phulpagar, Neeharika Sriram, Shweta Prasad, Jitender Saini, Nitish Kamble, Ravi Yadav, Babylakshmi Muthusamy, Dr. Pramod Kumar Pal
Tremor Other Hyperkinet Mov (N Y) 2024; 14: 41. Published online 2024 Aug 21. doi: 10.5334/tohm.897
PMCID:
PMC11342831
AbstractArticlePDF–1.7M
3.
Comparison of clinical outcomes between total hip replacement and total knee replacement
Alexander Green, Alex Walsh, Oday Al-Dadah
World J Orthop. 2023 Dec 18; 14(12): 853–867. Published online 2023 Dec 18. doi: 10.5312/wjo.v14.i12.853
PMCID:
PMC10758591
AbstractArticlePDF–481K
4.
ANAD: Arabic news article dataset
Mohammed Altamimi, Abdulaziz M. Alayba
Data Brief. 2023 Oct; 50: 109460. Published online 2023 Jul 29. doi: 10.1016/j.dib.2023.109460
PMCID:
PMC10415830
AbstractArticlePDF–863K
5.
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15
Afshin Saffari, Melanie Kellner, Catherine Jordan, Helena Rosengarten, Alisa Mo, Bo Zhang, Oleksandr Strelko, Sonja Neuser, Marie Y Davis, Nobuaki Yoshikura, Naonobu Futamura, Tomoya Takeuchi, Shin Nabatame, Hiroyuki Ishiura, Shoji Tsuji, Huda Shujaa Aldeen, Elisa Cali, Clarissa Rocca, Henry Houlden, Stephanie Efthymiou, Birgit Assmann, Grace Yoon, Bianca A Trombetta, Pia Kivisäkk, Florian Eichler, Haitian Nan, Yoshihisa Takiyama, Alessandra Tessa, Filippo M Santorelli, Mustafa Sahin, Craig Blackstone, Edward Yang, Rebecca Schüle, Darius Ebrahimi-Fakhari
Brain. 2023 May; 146(5): 2003–2015. Published online 2022 Oct 31. doi: 10.1093/brain/awac391
PMCID:
PMC10411936
AbstractArticlePDF–926K
6.
PLA2G6‐associated late‐onset parkinsonism in a Sudanese family
Yousuf Bakhit, Christelle Tesson, Mohamed O. Ibrahim, Khalid Eltom, Isra Eltazi, Liena E.O. Elsayed, Suzanne Lesage, Osheik Seidi, Jean‐Christophe Corvol, Ullrich Wüllner, Sudanese Parkinson's Disease Study Group
Ann Clin Transl Neurol. 2023 Jun; 10(6): 983–989. Published online 2023 May 3. doi: 10.1002/acn3.51781
PMCID:
PMC10270271
AbstractArticlePDF–4.8M
7.
Human–Computer Interaction with a Real-Time Speech Emotion Recognition with Ensembling Techniques 1D Convolution Neural Network and Attention
Waleed Alsabhan
Sensors (Basel) 2023 Feb; 23(3): 1386. Published online 2023 Jan 26. doi: 10.3390/s23031386
PMCID:
PMC9921095
AbstractArticlePDF–2.9M
8.
Nano-Modified Polymer Gels as Temperature- and Salt-Resistant Fluid-Loss Additive for Water-Based Drilling Fluids
Jian Li, Jinsheng Sun, Kaihe Lv, Yuxi Ji, Jintao Ji, Jingping Liu
Gels. 2022 Sep; 8(9): 547. Published online 2022 Aug 29. doi: 10.3390/gels8090547
PMCID:
PMC9498723
AbstractArticlePDF–5.6M
9.
Auditory Neuropathy / Auditory Dyssynchrony in children with Cochlear Implants
Ana Claudia Martinho de Carvalho, Maria Cecilia Bevilacqua, Koichi Sameshima, Orozimbo Alves Costa Filho
Braz J Otorhinolaryngol. 2011 Jul-Aug; 77(4): 481–487. Published online 2015 Oct 19. doi: 10.1590/S1808-86942011000400012
PMCID:
PMC9450761
AbstractArticlePDF–477K
10.
Extratympanic electrocochleography in the diagnosis of auditory neuropathy/auditory dyssynchrony
Adriana Ribeiro Tavares Anastasio, Kátia de Freitas Alvarenga, Orozimbo Alves Costa Filho
Braz J Otorhinolaryngol. 2008 Jan-Feb; 74(1): 132–136. Published online 2015 Oct 19. doi: 10.1016/S1808-8694(15)30763-1
PMCID:
PMC9450606
AbstractArticlePDF–405K
11.
Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration
Yalan Wan, Yanyan Jiang, Zhiying Xie, Chen Ling, Kang Du, Ran Li, Yun Yuan, Zhaoxia Wang, Wei Sun, Haiqiang Jin
Front Neurol. 2022; 13: 922528. Published online 2022 Jul 13. doi: 10.3389/fneur.2022.922528
PMCID:
PMC9327523
AbstractArticlePDF–963K
12.
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy
Celine Deneubourg, Mauricio Ramm, Luke J. Smith, Olga Baron, Kritarth Singh, Susan C. Byrne, Michael R. Duchen, Mathias Gautel, Eeva-Liisa Eskelinen, Manolis Fanto, Heinz Jungbluth
Autophagy. 2022; 18(3): 496–517. Published online 2021 Aug 19. doi: 10.1080/15548627.2021.1943177
PMCID:
PMC9037555
AbstractArticlePDF–2.0M
13.
Human-Computer Interaction with Detection of Speaker Emotions Using Convolution Neural Networks
Abeer Ali Alnuaim, Mohammed Zakariah, Aseel Alhadlaq, Chitra Shashidhar, Wesam Atef Hatamleh, Hussam Tarazi, Prashant Kumar Shukla, Rajnish Ratna
Comput Intell Neurosci. 2022; 2022: 7463091. Published online 2022 Mar 31. doi: 10.1155/2022/7463091
PMCID:
PMC8989588
AbstractArticlePDF–2.7M
14.
Clinical application of 3D-printed patient-specific guide plate combined with computer navigation in acetabular reconstruction following resection of periacetabular tumors
Jingyi Dang, Jun Fu, Dong Liu, Zhao Zhang, Zhenzhou Mi, Debin Cheng, Xincheng Liu, Yushen Zhang, Dongze Zhu, Lei Wang, Yubo Shi, Hongbin Fan
Ann Transl Med. 2022 Jan; 10(2): 76. doi: 10.21037/atm-21-7013
PMCID:
PMC8848447
AbstractArticlePDF–1.6M
15.
New Insights of Phospholipase A2 Associated Neurodegeneration Phenotype Based on the Long-Term Follow-Up of a Large Hungarian Family
Renata Toth-Bencsik, Peter Balicza, Edina Timea Varga, Andras Lengyel, Gabor Rudas, Aniko Gal, Maria Judit Molnar
Front Genet. 2021; 12: 628904. Published online 2021 Jun 8. doi: 10.3389/fgene.2021.628904
PMCID:
PMC8217829
AbstractArticlePDF–675K
16.
Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl
Sakshi Jain, Himani Bhasin, Marta Romani, Enza maria valente, Suvasini Sharma
J Pediatr Neurosci. 2019 Apr-Jun; 14(2): 90–93. doi: 10.4103/jpn.JPN_91_18
PMCID:
PMC6712922
AbstractArticle
17.
Cortical Auditory Evoked Potentials in Children with Auditory Neuropathy/Dys-Synchrony
Seyede Farank Emami, Ali Abdoli
Indian J Otolaryngol Head Neck Surg. 2019 Jun; 71(2): 238–242. Published online 2018 Jul 23. doi: 10.1007/s12070-018-1445-x
PMCID:
PMC6582116
AbstractArticlePDF–316K
18.
Early Ataxia and Subsequent Parkinsonism: PLA2G6 Mutations Cause a Continuum Rather Than Three Discrete Phenotypes
Roberto Erro, Bettina Balint, Manju A. Kurian, Florian Brugger, Marina Picillo, Paolo Barone, Kailash P. Bhatia, Maria Teresa Pellecchia
Mov Disord Clin Pract. 2017 Jan-Feb; 4(1): 125–128. Published online 2016 Mar 31. doi: 10.1002/mdc3.12319
PMCID:
PMC6407056
AbstractArticlePDF–140K
19.
The Prevalence and Causes of Auditory Neuropathy/Dys-synchrony (AN/AD) in Children with Hearing Impairment
Nasrin Gohari, Seyede Farank Emami, Sedigheh Sadat Mirbagheri, Akram Valizadeh, Nastaran Abdollahi, Mahta Borzuei
Indian J Otolaryngol Head Neck Surg. 2019 Mar; 71(1): 71–75. Published online 2018 Sep 17. doi: 10.1007/s12070-018-1494-1
PMCID:
PMC6401023
AbstractArticlePDF–369K
20.
PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes
Yu-pei Guo, Bei-sha Tang, Ji-feng Guo
Front Neurol. 2018; 9: 1100. Published online 2018 Dec 18. doi: 10.3389/fneur.2018.01100
PMCID:
PMC6305538
AbstractArticlePDF–1.1M

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