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Select item 113735131.

Hereditary spastic paraplegia and extensive leukoencephalopathy: a case report of a unique phenotype associated with a GJB1/Cx32 p.Pro174Ser variant

Haruko Nakamura, Hiroshi Doi, Yosuke Miyaji, Taishi Wada, Erisa Takahashi, Mikiko Tada, Hiromi Fukuda, Atsushi Fujita, Yuichi Higashiyama, Yuri Nagao, Kazue Kimura, Masaharu Hayashi, Kyoko Hoshino, Naomichi Matsumoto, Fumiaki Tanaka

BMC Neurol. 2024; 24: 310. Published online 2024 Sep 4. doi: 10.1186/s12883-024-03823-9

PMCID:: PMC11373513

Article PDF–1.1M

Select item 112550722.

Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability

Ettore Cioffi, Valeria Gioiosa, Alessandra Tessa, Antonio Petrucci, Rosanna Trovato, Filippo Maria Santorelli, Carlo Casali

Neurol Sci. 2024; 45(8): 3845–3852. Published online 2024 Mar 1. doi: 10.1007/s10072-024-07423-w

PMCID:: PMC11255072

Article PDF–711K

Select item 112357293.

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

Article PDF–4.0M

Select item 109795134.

The Reelin Receptor ApoER2 is a Cargo for the Adaptor Protein Complex AP-4: Implications for Hereditary Spastic Paraplegia

Mario O. Caracci, Héctor Pizarro, Carlos Alarcón-Godoy, Luz M. Fuentealba, Pamela Farfán, Raffaella De Pace, Natacha Santibañez, Viviana A. Cavieres, Tammy P. Pástor, Juan S. Bonifacino, Gonzalo A. Mardones, María-Paz Marzolo

Prog Neurobiol. Author manuscript; available in PMC 2025 Mar 1.

Published in final edited form as: Prog Neurobiol. 2024 Mar; 234: 102575. Published online 2024 Jan 26. doi: 10.1016/j.pneurobio.2024.102575

Correction in:: Prog Neurobiol. 2024 Oct; 241: 102662.

PMCID:: PMC10979513

Article PDF–4.0M

Select item 109238885.

DDHD2, whose mutations cause spastic paraplegia type 54, enhances lipophagy via engaging ATG8 family proteins

Fei Jia, Xiaoman Wang, Yuhua Fu, Shi-Min Zhao, Boxun Lu, Chenji Wang

Cell Death Differ. 2024 Mar; 31(3): 348–359. Published online 2024 Feb 8. doi: 10.1038/s41418-024-01261-1

PMCID:: PMC10923888

Article PDF–11M

Select item 107596406.

Adult-onset combined oxidative phosphorylation deficiency type 14 manifests as epileptic status: a new phenotype and literature review

Xu Zhang, Feng Xiang, Desheng Li, Fei Yang, Shengyuan Yu, Xiangqing Wang

BMC Neurol. 2024; 24: 15. Published online 2024 Jan 2. doi: 10.1186/s12883-023-03480-4

PMCID:: PMC10759640

Article PDF–1.8M

Select item 106447727.

Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient

Shan-Yu Gao, Yu-Xing Liu, Yi Dong, Liang-Liang Fan, Qi Ding, Lv Liu

Front Genet. 2023; 14: 1205052. Published online 2023 Oct 31. doi: 10.3389/fgene.2023.1205052

PMCID:: PMC10644772

Article PDF–2.0M

Select item 100140048.

Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia

Shih‐Yu Fang, Ying‐Tsen Chou, Kuo‐Chou Hsu, Shao‐Lun Hsu, Kai‐Wei Yu, Yu‐Shuen Tsai, Yi‐Chu Liao, Pei‐Chien Tsai, Yi‐Chung Lee

Ann Clin Transl Neurol. 2023 Mar; 10(3): 353–362. Published online 2023 Jan 6. doi: 10.1002/acn3.51724

PMCID:: PMC10014004

Article PDF–2.1M

Select item 96312389.

Force generation of KIF1C is impaired by pathogenic mutations

Nida Siddiqui, Daniel Roth, Algirdas Toleikis, Alexander J. Zwetsloot, Robert A. Cross, Anne Straube

Curr Biol. 2022 Sep 12; 32(17): 3862–3870.e6. doi: 10.1016/j.cub.2022.07.029

PMCID:: PMC9631238

Article

Select item 938017910.

New phenotype of RTN2‐related spectrum: Complicated form of spastic paraplegia‐12

Wotu Tian, Haoran Zheng, Zeyu Zhu, Chao Zhang, Xinghua Luan, Li Cao

Ann Clin Transl Neurol. 2022 Aug; 9(8): 1108–1115. Published online 2022 Jun 9. doi: 10.1002/acn3.51605

PMCID:: PMC9380179

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Select item 909753911.

Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia

Yuzhi Shi, An Wang, Bin Chen, Xingao Wang, Songtao Niu, Wei Li, Shaowu Li, Zaiqiang Zhang

Front Neurol. 2022; 13: 872927. Published online 2022 Apr 28. doi: 10.3389/fneur.2022.872927

PMCID:: PMC9097539

Article PDF–2.9M

Select item 902674712.

Mitochondrial and Neuronal Dysfunctions in L1 Mutant Mice

Ludovica Congiu, Viviana Granato, Gabriele Loers, Ralf Kleene, Melitta Schachner

Int J Mol Sci. 2022 Apr; 23(8): 4337. Published online 2022 Apr 14. doi: 10.3390/ijms23084337

PMCID:: PMC9026747

Article PDF–1.7M

Select item 859314613.

Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias

Gabriela Marchisio Giordani, Fabrício Diniz, Helena Fussiger, Carelis Gonzalez-Salazar, Karina Carvalho Donis, Fernando Freua, Roberta Paiva Magalhães Ortega, Julian Letícia de Freitas, Orlando Graziani Povoas Barsottini, Sergio Rosemberg, Fernando Kok, José Luiz Pedroso, Marcondes Cavalcante França, Jr, Jonas Alex Morales Saute

Sci Rep. 2021; 11: 22248. Published online 2021 Nov 15. doi: 10.1038/s41598-021-01635-2

PMCID:: PMC8593146

Article PDF–1.3M

Select item 852593814.

Lysosomal targeting of autophagosomes by the TECPR domain of TECPR2

Milana Fraiberg, Bat-Chen Tamim-Yecheskel, Kamilya Kokabi, Nemanja Subic, Gali Heimer, Franziska Eck, Karsten Nalbach, Christian Behrends, Bruria Ben-Zeev, Oren Shatz, Zvulun Elazar

Autophagy. 2021; 17(10): 3096–3108. Published online 2020 Nov 29. doi: 10.1080/15548627.2020.1852727

PMCID:: PMC8525938

Article PDF–21M

Select item 830736015.

Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia

Liriopé Toupenet Marchesi, Marion Leblanc, Giovanni Stevanin

Cells. 2021 Jul; 10(7): 1678. Published online 2021 Jul 2. doi: 10.3390/cells10071678

PMCID:: PMC8307360

Article PDF–946K

Select item 813036216.

A new family with spastic paraplegia type 51 and novel mutations in AP4E1

Izabela Winkler, Paweł Miotła, Monika Lejman, Aleksandra Pietrzyk, Magdalena Kacprzak, Marcin Kubiak, Agnieszka Sobczyńska-Tomaszewska, Maciej Skrzypczak, Ilona Jaszczuk

BMC Med Genomics. 2021; 14: 131. Published online 2021 May 18. doi: 10.1186/s12920-021-00980-5

PMCID:: PMC8130362

Article PDF–1.0M

Select item 797400217.

Proton MR Spectroscopic Imaging in Pelizaeus-Merzbacher Disease

Francesca Pizzini, Ali. S. Fatemi, Peter B. Barker, Lidia M. Nagae-Poetscher, Alena Horská, Andrew W. Zimmerman, Hugo W. Moser, Genila Bibat, Sakkubai Naidu

AJNR Am J Neuroradiol. 2003 Sep; 24(8): 1683–1689.

PMCID:: PMC7974002

Article PDF–229K

Select item 789359818.

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

Gijs H.P. Tazelaar, Annelot M. Dekker, Joke J.F.A. van Vugt, Rick A. van der Spek, Henk-Jan Westeneng, Lindy J.B.G. Kool, Kevin P. Kenna, Wouter van Rheenen, Sara L. Pulit, Russell L. McLaughlin, William Sproviero, Alfredo Iacoangeli, Annemarie Hübers, David Brenner, Karen E. Morrison, Pamela J. Shaw, Christopher E. Shaw, Monica Povedano Panadés, Jesus S. Mora Pardina, Jonathan D. Glass, Orla Hardiman, Ammar Al-Chalabi, Philip van Damme, Wim Robberecht, John E. Landers, Albert C. Ludolph, Jochen H. Weishaupt, Leonard H. van den Berg, Jan H. Veldink, Michael A. van Es

Neurobiol Aging. Author manuscript; available in PMC 2021 Feb 19.

Published in final edited form as: Neurobiol Aging. 2019 Feb; 74: 234.e9–234.e15. Published online 2018 Sep 22. doi: 10.1016/j.neurobiolaging.2018.09.012

PMCID:: PMC7893598

Article PDF–561K

Select item 779705819.

Characterization of the first tetrameric transcription factor of the GntR superfamily with allosteric regulation from the bacterial pathogen Agrobacterium fabrum

Armelle Vigouroux, Thibault Meyer, Anaïs Naretto, Pierre Legrand, Magali Aumont-Nicaise, Aurélie Di Cicco, Sébastien Renoud, Jeanne Doré, Daniel Lévy, Ludovic Vial, Céline Lavire, Solange Moréra

Nucleic Acids Res. 2021 Jan 11; 49(1): 529–546. Published online 2020 Dec 11. doi: 10.1093/nar/gkaa1181

PMCID:: PMC7797058

Article PDF–6.8M

Select item 744751620.

Janus-faced spatacsin (SPG11): involvement in neurodevelopment and multisystem neurodegeneration

Tatyana Pozner, Martin Regensburger, Tobias Engelhorn, Jürgen Winkler, Beate Winner

Brain. 2020 Aug; 143(8): 2369–2379. Published online 2020 May 1. doi: 10.1093/brain/awaa099

PMCID:: PMC7447516

Article PDF–524K

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