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Select item 110557971.

Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound

Katharina Kneer, Stephanie Straub, Julia Wittlinger, Jan-Hendrik Stahl, Natalie Winter, Dagmar Timmann, Ludger Schöls, Matthis Synofzik, Friedemann Bender, Alexander Grimm

J Neurol. 2024; 271(5): 2494–2502. Published online 2024 Jan 23. doi: 10.1007/s00415-023-12159-2

PMCID:: PMC11055797

Abstract Article PDF–805K

Select item 107220992.

Histological studies on the relationship between the low seed set and abnormal embryo sacs in sweet potato, Ipomoea batatas (L.) Lam.

Tatsuro Murata

Breed Sci. 2023 Sep; 73(4): 393–400. Published online 2023 Sep 9. doi: 10.1270/jsbbs.23022

PMCID:: PMC10722099

Abstract Article PDF–5.5M

Select item 106714343.

OsmiRNA5488 Regulates the Development of Embryo Sacs and Targets OsARF25 in Rice (Oryza sativa L.)

Shengyuan Guo, Chuanjiang Zheng, Yan Wang, Yangwen Xu, Jinwen Wu, Lan Wang, Xiangdong Liu, Zhixiong Chen

Int J Mol Sci. 2023 Nov; 24(22): 16240. Published online 2023 Nov 13. doi: 10.3390/ijms242216240

PMCID:: PMC10671434

Abstract Article PDF–3.6M

Select item 106029644.

A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration

Kari J. Ekenstedt, Katie M. Minor, G. Diane Shelton, James J. Hammond, Andrew D. Miller, Susan M. Taylor, Yanyun Huang, James R. Mickelson

Hum Genet. 2023; 142(11): 1587–1601. Published online 2023 Sep 27. doi: 10.1007/s00439-023-02599-1

PMCID:: PMC10602964

Abstract Article PDF–3.5M

Select item 104134085.

Does the Presence of Extended Jugular Lymphatic Sacs Add More Risk to Nuchal Thickness for Genetic and Structural Abnormality?

Mehmet Obut, Arife Akay, Ibanoglu Can Müjde, Özge Yucel Çelik, Asya Kalayci Öncü, Zuat Acar, Erdal Seker, Erkan Saglam, Cantekin Iskender

J Med Ultrasound. 2023 Apr-Jun; 31(2): 119–126. Published online 2022 Nov 9. doi: 10.4103/jmu.jmu_225_21

PMCID:: PMC10413408

Abstract Article PDF–1.0M

Select item 103712406.

Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model

Andrea Del Bondio, Fabiana Longo, Daniele De Ritis, Erica Spirito, Paola Podini, Bernard Brais, Angela Bachi, Angelo Quattrini, Francesca Maltecca

JCI Insight. 2023 Jun 22; 8(12): e163576. Published online 2023 Jun 22. doi: 10.1172/jci.insight.163576

PMCID:: PMC10371240

Abstract Article PDF–15M

Select item 101225847.

In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Aurélie Louit, Marie-Josée Beaudet, Mathieu Blais, François Gros-Louis, Nicolas Dupré, François Berthod

Stem Cells Int. 2023; 2023: 1496597. Published online 2023 Apr 15. doi: 10.1155/2023/1496597

PMCID:: PMC10122584

Abstract Article PDF–2.7M

Select item 99563298.

Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot–Marie–Tooth and Spastic Ataxia of Charlevoix–Saguenay Type Diseases

Qaiser Zaman, Muhammad Abbas Khan, Kalsoom Sahar, Gauhar Rehman, Hamza Khan, Mehwish Rehman, Najumuddin, Ilyas Ahmad, Muhmmad Tariq, Osama Yousef Muthaffar, Angham Abdulrhman Abdulkareem, Fehmida Bibi, Muhammad Imran Naseer, Muhammad Shah Faisal, Naveed Wasif, Musharraf Jelani

Genes (Basel) 2023 Feb; 14(2): 328. Published online 2023 Jan 27. doi: 10.3390/genes14020328

PMCID:: PMC9956329

Abstract Article PDF–7.1M

Select item 99416679.

Systematic literature review of the use of Staff Attitudes to Coercion Scale (SACS)

Tonje Lossius Husum, Johan Siqveland, Torleif Ruud, Jakub Lickiewicz

Front Psychiatry. 2023; 14: 1063276. Published online 2023 Feb 7. doi: 10.3389/fpsyt.2023.1063276

PMCID:: PMC9941667

Abstract Article PDF–752K

Select item 980560910.

A novel single-point mutation of NEFH and biallelic SACS mutation presenting as intermediate form Charcot-Marie-Tooth: A case report in Vietnam

Anh Tuan Truong, Anh Thi Lan Luong, Linh Hai Nguyen, Huong Van Nguyen, Diep Ngoc Nguyen, Ngoc Thi Minh Nguyen

Surg Neurol Int. 2022; 13: 553. Published online 2022 Nov 25. doi: 10.25259/SNI_803_2022

PMCID:: PMC9805609

Abstract Article PDF–984K

Select item 976486011.

Measuring self-as-context in Chinese college students: Validity and reliability of the Chinese version of self-as-context scale (C-SACS)

Shuanghu Fang, Mingjie Huang, Yiyi Wang

Front Psychol. 2022; 13: 1051661. Published online 2022 Dec 6. doi: 10.3389/fpsyg.2022.1051661

PMCID:: PMC9764860

Abstract Article PDF–881K

Select item 972079912.

Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay due to Novel Mutations in the SACS Gene

Rohan Sharma, Akilandeswari Aravindhan, Clara Puente, Aravindhan Veerapandiyan

J Investig Med High Impact Case Rep. 2022 Jan-Dec; 10: 23247096221139670. Published online 2022 Dec 2. doi: 10.1177/23247096221139670

PMCID:: PMC9720799

Abstract Article PDF–795K

Select item 952698013.

Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome

Marjolaine Tremblay, Laura Girard-Côté, Bernard Brais, Cynthia Gagnon

Orphanet J Rare Dis. 2022; 17: 369. Published online 2022 Oct 1. doi: 10.1186/s13023-022-02497-1

PMCID:: PMC9526980

Abstract Article PDF–1.4M

Select item 951123414.

Participation and Functional Independence in Adults With Recessive Spastic Ataxia of Charlevoix-Saguenay

Samar Muslemani, Isabelle Lessard, Caroline Lavoie, Isabelle Côté, Bernard Brais, Jean Mathieu, Cynthia Gagnon

Can J Occup Ther. 2022 Sep; 89(3): 315–325. Published online 2022 Apr 26. doi: 10.1177/00084174221088417

PMCID:: PMC9511234

Abstract Article PDF–739K

Select item 943786015.

The ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics

Vincent Francis, Walaa Alshafie, Rahul Kumar, Martine Girard, Bernard Brais, Peter S. McPherson

J Biol Chem. 2022 Sep; 298(9): 102320. Published online 2022 Aug 4. doi: 10.1016/j.jbc.2022.102320

Correction in:: J Biol Chem. 2022 Dec; 298(12): 102718.

PMCID:: PMC9437860

Abstract Article PDF–3.2M

Select item 938082816.

Differentially Expressed Genes of Pseudomonas aeruginosa Isolates from Eyes with Keratitis and Healthy Conjunctival Sacs

Xiubin Ma, Qing Liu, Fangying Song, Yusen Huang

Infect Drug Resist. 2022; 15: 4495–4506. Published online 2022 Aug 12. doi: 10.2147/IDR.S374335

PMCID:: PMC9380828

Abstract Article PDF–4.4M

Select item 933197417.

Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in SACS KO Cell Model

Federica Morani, Stefano Doccini, Daniele Galatolo, Francesco Pezzini, Rabah Soliymani, Alessandro Simonati, Maciej M. Lalowski, Federica Gemignani, Filippo M. Santorelli

Biomolecules. 2022 Aug; 12(8): 1024. Published online 2022 Jul 24. doi: 10.3390/biom12081024

PMCID:: PMC9331974

Abstract Article PDF–2.8M

Select item 925445118.

Immunostaining of phospho-RIPK3 in L929 cells, murine yolk sacs, ceca, and small intestines

Lang Li, Kai Huang, Chenchen Ruan, Jiahuai Han, Yingying Zhang

STAR Protoc. 2022 Sep 16; 3(3): 101517. Published online 2022 Jul 1. doi: 10.1016/j.xpro.2022.101517

PMCID:: PMC9254451

Abstract Article PDF–2.9M

Select item 898192219.

The role of activation of two different sGC binding sites by NO‐dependent and NO‐independent mechanisms in the regulation of SACs in rat ventricular cardiomyocytes

Andre G. Kamkin, Olga V. Kamkina, Andrey L. Shim, Andrey Bilichenko, Vadim M. Mitrokhin, Viktor E. Kazansky, Tatiana S. Filatova, Denis V. Abramochkin, Mitko I. Mladenov

Physiol Rep. 2022 Apr; 10(7): e15246. Published online 2022 Apr 5. doi: 10.14814/phy2.15246