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Items: 1 to 20 of 164

1.
Hereditary spastic paraplegias: When to expect bladder dysfunction a genetic and urodynamic study
Pauline Lallemant‐Dudek, Marine Guillaud‐Bataille, Claire Hentzen, Charles Joussain, Bertrand Pichon, Gilberte Robain, Rebecca Haddad, Giulia Coarelli, Anna Heinzmann, Pierre Denys, Gérard Amarenco, Alexandra Durr
Eur J Neurol. 2025 Jan; 32(1): e70003. Published online 2024 Dec 20. doi: 10.1111/ene.70003
PMCID:
PMC11660083
AbstractArticlePDF–608K
2.
胚胎植入前遗传学检测结合三代测序在阻断遗传性痉挛性截瘫中的成功应用
齐 淇, 周 征, 马 金召, 姚 兵, 陈 莉
Nan Fang Yi Ke Da Xue Xue Bao. 2024 Nov 20; 44(11): 2184–2191. Chinese. doi: 10.12122/j.issn.1673-4254.2024.11.15
PMCID:
PMC11605195
AbstractArticlePDF–1.8M
3.
Cul-4 inhibition rescues spastin levels and reduces defects in hereditary spastic paraplegia models
Francesca Sardina, Claudia Carsetti, Ludovica Giorgini, Gaia Fattorini, Gianluca Cestra, Cinzia Rinaldo
Brain. 2024 Oct; 147(10): 3534–3546. Published online 2024 Mar 29. doi: 10.1093/brain/awae095
PMCID:
PMC11449140
AbstractArticlePDF–945K
4.
Spastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation
Min Luo, Yanying Wang, Jinxiu Liang, Xinhua Wan
J Transl Med. 2024; 22: 872. Published online 2024 Sep 27. doi: 10.1186/s12967-024-05669-8
PMCID:
PMC11429824
AbstractArticlePDF–4.7M
5.
Spastin regulates ER-mitochondrial contact sites and mitochondrial homeostasis
Amelie Raby, Sonia Missiroli, Peggy Sanatine, Dominique Langui, Julien Pansiot, Nissai Beaude, Lucie Vezzana, Rachelle Saleh, Martina Marinello, Mireille Laforge, Paolo Pinton, Ana Buj-Bello, Andrea Burgo
iScience. 2024 Sep 20; 27(9): 110683. Published online 2024 Aug 6. doi: 10.1016/j.isci.2024.110683
PMCID:
PMC11382127
AbstractArticlePDF–9.4M
6.
Metabolite profile in hereditary spastic paraplegia analyzed using magnetic resonance spectroscopy: a cross-sectional analysis in a longitudinal study
Domenico Montanaro, Marinela Vavla, Francesca Frijia, Alessio Coi, Alessandra Baratto, Rosa Pasquariello, Cristina Stefan, Andrea Martinuzzi
Front Neurosci. 2024; 18: 1416093. Published online 2024 Aug 13. doi: 10.3389/fnins.2024.1416093
PMCID:
PMC11347332
AbstractArticlePDF–678K
7.
Novel de novo SPAST mutation in a Han Chinese SPG4 patient: a case report
Yu-Han Xu, Bao-Yu Yuan, Jia-Le Ji, Di Wu, Hong Zhou, Yi-Jing Guo
Front Genet. 2024; 15: 1410381. Published online 2024 Jul 30. doi: 10.3389/fgene.2024.1410381
PMCID:
PMC11319187
AbstractArticlePDF–2.0M
8.
Relationship between brain white matter damage and grey matter atrophy in hereditary spastic paraplegia types 4 and 5
Yuqing Tu, Ying Liu, Shuping Fan, Jiaqi Weng, Mengcheng Li, Fan Zhang, Ying Fu, Jianping Hu
Eur J Neurol. 2024 Aug; 31(8): e16310. Published online 2024 Apr 23. doi: 10.1111/ene.16310
PMCID:
PMC11235729
AbstractArticlePDF–4.0M
9.
A novel SPAST gene splicing variant (c.1617-2A>C) in a heterozygous carrier with hereditary spastic paraplegia
Elvira Sbragia, Andrea Assini, Silvia Calzavara, Paola Carrera, Claudio Marcello Solaro, Emilio Di Maria
eNeurologicalSci. 2024 Jun; 35: 100506. Published online 2024 May 29. doi: 10.1016/j.ensci.2024.100506
PMCID:
PMC11179584
AbstractArticlePDF–404K
10.
Identification of novel variations in three cases with rare inherited neuromuscular disorder
Wen-Qi Chen, Yu-Fan Yuan, Ke-Na Hu, Dong-Lan Sun, Si-Wen Wang, Qing-Bing He, Yan-Ming Liu, Cong-Ying Han, Jing Zhang, Ya-Zhou Li
Exp Ther Med. 2024 Jun; 27(6): 270. Published online 2024 Apr 29. doi: 10.3892/etm.2024.12558
PMCID:
PMC11097291
AbstractArticlePDF–3.2M
11.
SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism
Ewelina Elert-Dobkowska, Iwona Stepniak, Wiktoria Radziwonik-Fraczyk, Amir Jahic, Christian Beetz, Anna Sulek
Int J Mol Sci. 2024 May; 25(9): 5008. Published online 2024 May 3. doi: 10.3390/ijms25095008
PMCID:
PMC11084448
AbstractArticlePDF–1.2M
12.
Surgical treatment options for spasticity in children and adolescents with hereditary spastic paraplegia
Laura A. van de Pol, Nina Burgert, Petra E. M. van Schie, K. Mariam Slot, Alida A. Gouw, Annemieke I. Buizer
Childs Nerv Syst. 2024; 40(3): 855–861. Published online 2023 Oct 3. doi: 10.1007/s00381-023-06159-w
PMCID:
PMC10891194
AbstractArticlePDF–511K
13.
The Effect of Co-Culture with Different Pichia kluyveri and Saccharomyces cerevisiae on Volatile Compound and Characteristic Fingerprints of Mulberry Wine
Bo Ding, Shutian Zhao, Wenxue Zhang, Ying Lin, Ling Xiong
Foods. 2024 Feb; 13(3): 422. Published online 2024 Jan 28. doi: 10.3390/foods13030422
PMCID:
PMC10855979
AbstractArticlePDF–8.4M
14.
A Novel SPAST Variant Associated with Isolated Spastic Paraplegia
Helle Høyer, Ola Nakken, Trygve Holmøy
Case Rep Genet. 2023; 2023: 4553365. Published online 2023 Dec 31. doi: 10.1155/2023/4553365
PMCID:
PMC10771913
AbstractArticlePDF–1.6M
15.
Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations
Rosangela Ferese, Simona Scala, Antonio Suppa, Rosa Campopiano, Francesco Asci, Alessandro Zampogna, Maria Antonietta Chiaravalloti, Annamaria Griguoli, Marianna Storto, Alba Di Pardo, Emiliano Giardina, Stefania Zampatti, Francesco Fornai, Giuseppe Novelli, Mirco Fanelli, Chiara Zecca, Giancarlo Logroscino, Diego Centonze, Stefano Gambardella
Front Neurol. 2023; 14: 1296924. Published online 2023 Dec 7. doi: 10.3389/fneur.2023.1296924
PMCID:
PMC10748595
AbstractArticlePDF–1.5M
16.
A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics
Jie Wang, Yihan Wu, Hong Dong, Yunpeng Ji, Lichun Zhang, Yaxian Liu, Yueshi Liu, Xin Gao, Yueqi Jia, Xiaohua Wang
BMC Med Genomics. 2023; 16: 321. Published online 2023 Dec 8. doi: 10.1186/s12920-023-01759-6
PMCID:
PMC10704811
AbstractArticlePDF–2.6M
17.
Movement disorders in hereditary spastic paraplegias
Jose Luiz Pedroso, Thiago Cardoso Vale, Julian Letícia de Freitas, Filipe Miranda Milagres Araújo, Alex Tiburtino Meira, Pedro Braga Neto, Marcondes C. França, Junior, Vitor Tumas, Hélio A. G. Teive, Orlando G. P. Barsottini
Arq Neuropsiquiatr. 2023 Nov; 81(11): 1000–1007. Published online 2023 Nov 30. doi: 10.1055/s-0043-1777005
PMCID:
PMC10689114
AbstractArticlePDF–405K
18.
Long-term progression of clinician-reported and gait performance outcomes in hereditary spastic paraplegias
Diana Maria Cubillos Arcila, Gustavo Dariva Machado, Valéria Feijó Martins, Vanessa Bielefeldt Leotti, Rebecca Schüle, Leonardo Alexandre Peyré-Tartaruga, Jonas Alex Morales Saute
Front Neurosci. 2023; 17: 1226479. Published online 2023 Sep 22. doi: 10.3389/fnins.2023.1226479
PMCID:
PMC10556702
AbstractArticlePDF–2.6M
19.
Amplifying the spectrum of SPAST gene mutations
Lorenzo Verriello, Incoronata Renata Lonigro, Maria Elena Pessa, Elena Betto, Giada Pauletto, Federico Fogolari, Gian Luigi Gigli, Francesco Curcio
Acta Biomed. 2021; 92(Suppl 1): e2021220. Published online 2021 Nov 4. doi: 10.23750/abm.v92iS1.11608
PMCID:
PMC10523053
AbstractArticlePDF–1.7M
20.
Dysfunctional neuro-muscular mechanisms explain gradual gait changes in prodromal spastic paraplegia
Christian Lassmann, Winfried Ilg, Tim W. Rattay, Ludger Schöls, Martin Giese, Daniel F. B. Haeufle
J Neuroeng Rehabil. 2023; 20: 90. Published online 2023 Jul 15. doi: 10.1186/s12984-023-01206-8
PMCID:
PMC10349428
AbstractArticlePDF–4.6M

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