174 related articles for article (PubMed ID: 30038238)
21. Clinical Manifestations Associated with the Domain-Containing Protein 2 Gene Mutation in an Iranian Family with Spastic Paraplegia 54.
Yari A; Etesam S; Zarifi S; Parvizpour S; Miri-Moghaddam E
Neurodegener Dis; 2022; 22(3-4):139-150. PubMed ID: 36977391
[TBL] [Abstract][Full Text] [Related]
22. Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.
Doi H; Ushiyama M; Baba T; Tani K; Shiina M; Ogata K; Miyatake S; Fukuda-Yuzawa Y; Tsuji S; Nakashima M; Tsurusaki Y; Miyake N; Saitsu H; Ikeda S; Tanaka F; Matsumoto N; Yoshida K
Sci Rep; 2014 Nov; 4():7132. PubMed ID: 25417924
[TBL] [Abstract][Full Text] [Related]
23. A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system.
Khundadze M; Kollmann K; Koch N; Biskup C; Nietzsche S; Zimmer G; Hennings JC; Huebner AK; Symmank J; Jahic A; Ilina EI; Karle K; Schöls L; Kessels M; Braulke T; Qualmann B; Kurth I; Beetz C; Hübner CA
PLoS Genet; 2013; 9(12):e1003988. PubMed ID: 24367272
[TBL] [Abstract][Full Text] [Related]
24. A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia.
Miura S; Morikawa T; Fujioka R; Kosaka K; Yamada K; Hattori G; Motomura M; Taniwaki T; Shibata H
Eur J Med Genet; 2016 Aug; 59(8):413-6. PubMed ID: 27216551
[TBL] [Abstract][Full Text] [Related]
25. Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome.
De Pace R; Skirzewski M; Damme M; Mattera R; Mercurio J; Foster AM; Cuitino L; Jarnik M; Hoffmann V; Morris HD; Han TU; Mancini GMS; Buonanno A; Bonifacino JS
PLoS Genet; 2018 Apr; 14(4):e1007363. PubMed ID: 29698489
[TBL] [Abstract][Full Text] [Related]
26. In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11.
Varga RE; Khundadze M; Damme M; Nietzsche S; Hoffmann B; Stauber T; Koch N; Hennings JC; Franzka P; Huebner AK; Kessels MM; Biskup C; Jentsch TJ; Qualmann B; Braulke T; Kurth I; Beetz C; Hübner CA
PLoS Genet; 2015 Aug; 11(8):e1005454. PubMed ID: 26284655
[TBL] [Abstract][Full Text] [Related]
27. Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.
Kumar KR; Wali GM; Kamate M; Wali G; Minoche AE; Puttick C; Pinese M; Gayevskiy V; Dinger ME; Roscioli T; Sue CM; Cowley MJ
Neurogenetics; 2016 Oct; 17(4):265-270. PubMed ID: 27679996
[TBL] [Abstract][Full Text] [Related]
28. Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family.
Gun Bilgic D; Gerik Celebi HB; Aydin Gumus A; Bilgic A; Yazici H; Ceylaner S; Yilmaz C; Polat M; Akbal Sahin M; Dereli F; Cam FS
J Clin Neurosci; 2020 Dec; 82(Pt B):214-218. PubMed ID: 33246910
[TBL] [Abstract][Full Text] [Related]
29. Phosphorylation of human phospholipase A1 DDHD1 at newly identified phosphosites affects its subcellular localization.
Matsumoto N; Nemoto-Sasaki Y; Oka S; Arai S; Wada I; Yamashita A
J Biol Chem; 2021 Jul; 297(1):100851. PubMed ID: 34089703
[TBL] [Abstract][Full Text] [Related]
30. Loss of Enzyme Activity in Mutated B4GALNT1 Gene Products in Patients with Hereditary Spastic Paraplegia Results in Relatively Mild Neurological Disorders: Similarity with Phenotypes of B4galnt1 Knockout Mice.
Bhuiyan RH; Ohmi Y; Ohkawa Y; Zhang P; Takano M; Hashimoto N; Okajima T; Furukawa K; Furukawa K
Neuroscience; 2019 Jan; 397():94-106. PubMed ID: 30521973
[TBL] [Abstract][Full Text] [Related]
31. Oleic Acid-Containing Phosphatidylinositol Is a Blood Biomarker Candidate for SPG28.
Morikawa T; Takahashi M; Izumi Y; Bamba T; Moriyama K; Hattori G; Fujioka R; Miura S; Shibata H
Biomedicines; 2023 Apr; 11(4):. PubMed ID: 37189713
[TBL] [Abstract][Full Text] [Related]
32. ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.
Cooper HM; Yang Y; Ylikallio E; Khairullin R; Woldegebriel R; Lin KL; Euro L; Palin E; Wolf A; Trokovic R; Isohanni P; Kaakkola S; Auranen M; Lönnqvist T; Wanrooij S; Tyynismaa H
Hum Mol Genet; 2017 Apr; 26(8):1432-1443. PubMed ID: 28158749
[TBL] [Abstract][Full Text] [Related]
33. Progressive spinal axonal degeneration and slowness in ALS2-deficient mice.
Yamanaka K; Miller TM; McAlonis-Downes M; Chun SJ; Cleveland DW
Ann Neurol; 2006 Jul; 60(1):95-104. PubMed ID: 16802286
[TBL] [Abstract][Full Text] [Related]
34. A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.
Beetz C; Koch N; Khundadze M; Zimmer G; Nietzsche S; Hertel N; Huebner AK; Mumtaz R; Schweizer M; Dirren E; Karle KN; Irintchev A; Alvarez V; Redies C; Westermann M; Kurth I; Deufel T; Kessels MM; Qualmann B; Hübner CA
J Clin Invest; 2013 Oct; 123(10):4273-82. PubMed ID: 24051375
[TBL] [Abstract][Full Text] [Related]
35. Multimodal MRI-based study in patients with SPG4 mutations.
Rezende TJ; de Albuquerque M; Lamas GM; Martinez AR; Campos BM; Casseb RF; Silva CB; Branco LM; D'Abreu A; Lopes-Cendes I; Cendes F; França MC
PLoS One; 2015; 10(2):e0117666. PubMed ID: 25658484
[TBL] [Abstract][Full Text] [Related]
36. Ddhd1 knockout mouse as a model of locomotive and physiological abnormality in familial spastic paraplegia.
Morikawa T; Ohishi H; Kosaka K; Shimojo T; Nagano A; Taniguchi I; Fujioka R; Moriyama K; Unoki M; Takahashi M; Nakao M; Izumi Y; Bamba T; Sasaki H; Miura S; Shibata H
Biosci Rep; 2021 Feb; 41(2):. PubMed ID: 33600578
[TBL] [Abstract][Full Text] [Related]
37. Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia.
Citrigno L; Magariello A; Pugliese P; Di Palma G; Conforti FL; Petrone A; Muglia M
Acta Neurol Belg; 2018 Dec; 118(4):643-646. PubMed ID: 30411208
[TBL] [Abstract][Full Text] [Related]
38. The DDHD2-STXBP1 interaction mediates long-term memory via generation of saturated free fatty acids.
Akefe IO; Saber SH; Matthews B; Venkatesh BG; Gormal RS; Blackmore DG; Alexander S; Sieriecki E; Gambin Y; Bertran-Gonzalez J; Vitale N; Humeau Y; Gaudin A; Ellis SA; Michaels AA; Xue M; Cravatt B; Joensuu M; Wallis TP; Meunier FA
EMBO J; 2024 Feb; 43(4):533-567. PubMed ID: 38316990
[TBL] [Abstract][Full Text] [Related]
39. Mitochondrial dysfunction in neurodegenerative disorders and ageing.
Turner C; Schapira AH
Adv Exp Med Biol; 2001; 487():229-51. PubMed ID: 11403163
[No Abstract] [Full Text] [Related]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]