PMC Articles for MedGen (Select 761340) - PMC

Select item 97239231.

Dysarthria in hereditary spastic paraplegia type 4

Lais Alves Jacinto-Scudeiro, Rui Rothe-Neves, Vanessa Brzoskowski dos Santos, Gustavo Dariva Machado, Daniela Burguêz, Marina Martins Pereira Padovani, Annelise Ayres, Rafaela Soares Rech, Carelis González-Salazar, Marcondes Cavalcante França Junior, Jonas Alex Morales Saute, Maira Rozenfeld Olchik

Clinics (Sao Paulo) 2023 Jan-Dec; 78: 100128. Published online 2022 Dec 5. doi: 10.1016/j.clinsp.2022.100128

PMCID:: PMC9723923

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Select item 93801352.

Home‐based biofeedback speech treatment improves dysarthria in repeat‐expansion SCAs

Adam P. Vogel, Lisa H. Graf, Michelle Magee, Ludger Schöls, Natalie Rommel, Matthis Synofzik

Ann Clin Transl Neurol. 2022 Aug; 9(8): 1310–1315. Published online 2022 Jun 21. doi: 10.1002/acn3.51613

PMCID:: PMC9380135

Article PubReader PDF–534K Cite

Select item 88403153.

Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia

Christelle M. Durand, Chloé Angelini, Vincent Michaud, Claire Delleci, Isabelle Coupry, Cyril Goizet, Aurelien Trimouille

BMC Neurol. 2022; 22: 53. Published online 2022 Feb 12. doi: 10.1186/s12883-022-02553-0

PMCID:: PMC8840315

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Select item 88247764.

Generation and Characterization of Six Human Induced Pluripotent Stem Cell Lines (iPSC) From Three Families with AP4M1-associated Hereditary Spastic Paraplegia (SPG50)

Kathrin Eberhardt, Hellen Jumo, Angelica D’Amore, Julian E. Alecu, Marvin Ziegler, Wardiya Afshar Saber, Mustafa Sahin, Darius Ebrahimi-Fakhari

Stem Cell Res. Author manuscript; available in PMC 2022 Feb 9.

Published in final edited form as: Stem Cell Res. 2021 May; 53: 102335. Published online 2021 Apr 16. doi: 10.1016/j.scr.2021.102335

PMCID:: PMC8824776

Article PubReader PDF–549K Cite

Select item 73063405.

Genetic mutation analysis of hereditary spastic paraplegia: A retrospective study

Fang Cui, LiuQing Sun, Jie Qiao, JianYong Li, Mao Li, SiYu Chen, Bo Sun, XuSheng Huang

Medicine (Baltimore) 2020 Jun 5; 99(23): e20193. Published online 2020 Jun 5. doi: 10.1097/MD.0000000000020193

PMCID:: PMC7306340

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Select item 63632746.

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study

Matthis Synofzik, Katrien Smets, Martial Mallaret, Daniela Di Bella, Constanze Gallenmüller, Jonathan Baets, Martin Schulze, Stefania Magri, Elisa Sarto, Mona Mustafa, Tine Deconinck, Tobias Haack, Stephan Züchner, Michael Gonzalez, Dagmar Timmann, Claudia Stendel, Thomas Klopstock, Alexandra Durr, Christine Tranchant, Marc Sturm, Wahiba Hamza, Lorenzo Nanetti, Caterina Mariotti, Michel Koenig, Ludger Schöls, Rebecca Schüle, Peter de Jonghe, Mathieu Anheim, Franco Taroni, Peter Bauer

Brain. 2016 May; 139(5): 1378–1393. Published online 2016 Apr 17. doi: 10.1093/brain/aww079

PMCID:: PMC6363274

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Select item 60354057.

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China

En-Lin Dong, Chong Wang, Shuang Wu, Ying-Qian Lu, Xiao-Hong Lin, Hui-Zhen Su, Miao Zhao, Jin He, Li-Xiang Ma, Ning Wang, Wan-Jin Chen, Xiang Lin

Mol Neurodegener. 2018; 13: 36. Published online 2018 Jul 6. doi: 10.1186/s13024-018-0269-1

PMCID:: PMC6035405

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Select item 52785258.

S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model

Pingting Liu, Baichun Jiang, Jian Ma, Pengfei Lin, Yinshuai Zhang, Changshun Shao, Wenjie Sun, Yaoqin Gong

Dis Model Mech. 2017 Jan 1; 10(1): 53–62. doi: 10.1242/dmm.026880

PMCID:: PMC5278525

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Select item 4850399.

Magnetic resonance imaging in degenerative ataxic disorders.

I E Ormerod, A E Harding, D H Miller, G Johnson, D MacManus, E P du Boulay, B E Kendall, I F Moseley, W I McDonald

J Neurol Neurosurg Psychiatry. 1994 Jan; 57(1): 51–57. doi: 10.1136/jnnp.57.1.51

PMCID:: PMC485039

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