These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
43. [A case of spastic paraplegia 48 with a novel mutation in the AP5Z1 gene]. Maruta K; Ando M; Otomo T; Takashima H Rinsho Shinkeigaku; 2020 Aug; 60(8):543-548. PubMed ID: 32641631 [TBL] [Abstract][Full Text] [Related]
44. [A case of spastic paraparesis with mental deterioration and markedly thin corpus callosum--callosal dysfunction demonstrated by magnetic stimulation]. Katayama T; Sakamoto N; Kuroda K; Yahara O; Ugawa Y Rinsho Shinkeigaku; 1998 May; 38(5):418-22. PubMed ID: 9805987 [TBL] [Abstract][Full Text] [Related]
45. High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia. Saffari A; Brechmann B; Böger C; Saber WA; Jumo H; Whye D; Wood D; Wahlster L; Alecu JE; Ziegler M; Scheffold M; Winden K; Hubbs J; Buttermore ED; Barrett L; Borner GHH; Davies AK; Ebrahimi-Fakhari D; Sahin M Nat Commun; 2024 Jan; 15(1):584. PubMed ID: 38233389 [TBL] [Abstract][Full Text] [Related]
46. Transactivation response DNA-binding protein of 43 kDa proteinopathy and lysosomal abnormalities in spastic paraplegia type 11. Mori S; Honda H; Hamasaki H; Sasagasako N; Suzuki SO; Furuya H; Taniwaki T; Iwaki T Neuropathology; 2021 Aug; 41(4):253-265. PubMed ID: 34031922 [TBL] [Abstract][Full Text] [Related]
47. Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia. Ebrahimi-Fakhari D; Alecu JE; Ziegler M; Geisel G; Jordan C; D'Amore A; Yeh RC; Akula SK; Saffari A; Prabhu SP; Sahin M; Yang E; Neurology; 2021 Nov; 97(19):e1942-e1954. PubMed ID: 34544818 [TBL] [Abstract][Full Text] [Related]
49. NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup. Elsaid MF; Ibrahim K; Chalhoub N; Elsotouhy A; El Mudehki N; Abdel Aleem A BMC Med Genet; 2017 Mar; 18(1):33. PubMed ID: 28327087 [TBL] [Abstract][Full Text] [Related]
54. Clinical features of hereditary spastic paraplegia with thin corpus callosum: report of 5 Chinese cases. Tang BS; Chen X; Zhao GH; Shen L; Yan XX; Jiang H; Luo W Chin Med J (Engl); 2004 Jul; 117(7):1002-5. PubMed ID: 15265372 [TBL] [Abstract][Full Text] [Related]
55. Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations. Chen J; Zhao Z; Shen H; Bing Q; Li N; Guo X; Hu J BMC Neurol; 2022 May; 22(1):180. PubMed ID: 35578252 [TBL] [Abstract][Full Text] [Related]
56. Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50). Eberhardt K; Jumo H; D'Amore A; Alecu JE; Ziegler M; Afshar Saber W; Sahin M; Ebrahimi-Fakhari D Stem Cell Res; 2021 May; 53():102335. PubMed ID: 34087981 [TBL] [Abstract][Full Text] [Related]
57. Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. van Gassen KL; van der Heijden CD; de Bot ST; den Dunnen WF; van den Berg LH; Verschuuren-Bemelmans CC; Kremer HP; Veldink JH; Kamsteeg EJ; Scheffer H; van de Warrenburg BP Brain; 2012 Oct; 135(Pt 10):2994-3004. PubMed ID: 22964162 [TBL] [Abstract][Full Text] [Related]
58. Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). Winner B; Uyanik G; Gross C; Lange M; Schulte-Mattler W; Schuierer G; Marienhagen J; Hehr U; Winkler J Arch Neurol; 2004 Jan; 61(1):117-21. PubMed ID: 14732628 [TBL] [Abstract][Full Text] [Related]
59. Rescue axonal defects by targeting mitochondrial dynamics in hereditary spastic paraplegias. Mou Y; Li XJ Neural Regen Res; 2019 Apr; 14(4):574-577. PubMed ID: 30632492 [TBL] [Abstract][Full Text] [Related]
60. Deletion of Transferrin Receptor 1 in Parvalbumin Interneurons Induces a Hereditary Spastic Paraplegia-Like Phenotype. Xiong W; Jin L; Zhao Y; Wu Y; Dong J; Guo Z; Zhu M; Dai Y; Pan Y; Zhu X J Neurosci; 2023 Jul; 43(27):5092-5113. PubMed ID: 37308296 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]