185 related articles for article (PubMed ID: 31135052)
1. FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Rattay TW; Lindig T; Baets J; Smets K; Deconinck T; Söhn AS; Hörtnagel K; Eckstein KN; Wiethoff S; Reichbauer J; Döbler-Neumann M; Krägeloh-Mann I; Auer-Grumbach M; Plecko B; Münchau A; Wilken B; Janauschek M; Giese AK; De Bleecker JL; Ortibus E; Debyser M; Lopez de Munain A; Pujol A; Bassi MT; D'Angelo MG; De Jonghe P; Züchner S; Bauer P; Schöls L; Schüle R
Brain; 2019 Jun; 142(6):1561-1572. PubMed ID: 31135052
[TBL] [Abstract][Full Text] [Related]
2. Novel biallelic FA2H mutations in a Japanese boy with fatty acid hydroxylase-associated neurodegeneration.
Kawaguchi M; Sassa T; Kidokoro H; Nakata T; Kato K; Muramatsu H; Okuno Y; Yamamoto H; Kaname T; Kihara A; Natsume J
Brain Dev; 2020 Feb; 42(2):217-221. PubMed ID: 31837835
[TBL] [Abstract][Full Text] [Related]
3. Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35).
German A; Jukic J; Laner A; Arnold P; Socher E; Mennecke A; Schmidt MA; Winkler J; Abicht A; Regensburger M
Genes (Basel); 2023 Dec; 15(1):. PubMed ID: 38275596
[TBL] [Abstract][Full Text] [Related]
4. Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).
Dick KJ; Eckhardt M; Paisán-Ruiz C; Alshehhi AA; Proukakis C; Sibtain NA; Maier H; Sharifi R; Patton MA; Bashir W; Koul R; Raeburn S; Gieselmann V; Houlden H; Crosby AH
Hum Mutat; 2010 Apr; 31(4):E1251-60. PubMed ID: 20104589
[TBL] [Abstract][Full Text] [Related]
5. Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.
Bektaş G; Yeşil G; Yıldız EP; Aydınlı N; Çalışkan M; Özmen M
Turk J Pediatr; 2017; 59(3):329-334. PubMed ID: 29376581
[TBL] [Abstract][Full Text] [Related]
6. Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient.
Uhrova Meszarosova A; Safka Brozkova D; Vyhnalek M; Mazanec R; Lastuvkova J; Trkova M; Bittoova M; Soldatova I; Seeman P
J Clin Neurosci; 2019 Jan; 59():337-339. PubMed ID: 30446360
[TBL] [Abstract][Full Text] [Related]
7. Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
Pensato V; Castellotti B; Gellera C; Pareyson D; Ciano C; Nanetti L; Salsano E; Piscosquito G; Sarto E; Eoli M; Moroni I; Soliveri P; Lamperti E; Chiapparini L; Di Bella D; Taroni F; Mariotti C
Brain; 2014 Jul; 137(Pt 7):1907-20. PubMed ID: 24833714
[TBL] [Abstract][Full Text] [Related]
8. SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations.
Liao X; Luo Y; Zhan Z; Du J; Hu Z; Wang J; Guo J; Hu Z; Yan X; Pan Q; Xia K; Tang B; Shen L
Clin Genet; 2015; 87(1):85-9. PubMed ID: 24359114
[TBL] [Abstract][Full Text] [Related]
9. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
Kruer MC; Paisán-Ruiz C; Boddaert N; Yoon MY; Hama H; Gregory A; Malandrini A; Woltjer RL; Munnich A; Gobin S; Polster BJ; Palmeri S; Edvardson S; Hardy J; Houlden H; Hayflick SJ
Ann Neurol; 2010 Nov; 68(5):611-8. PubMed ID: 20853438
[TBL] [Abstract][Full Text] [Related]
10. Decreased turnover of the CNS myelin protein Opalin in a mouse model of hereditary spastic paraplegia 35.
Hardt R; Jordans S; Winter D; Gieselmann V; Wang-Eckhardt L; Eckhardt M
Hum Mol Genet; 2021 Jan; 29(22):3616-3630. PubMed ID: 33215680
[TBL] [Abstract][Full Text] [Related]
11. Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.
Mari F; Berti B; Romano A; Baldacci J; Rizzi R; Grazia Alessandrì M; Tessa A; Procopio E; Rubegni A; Lourenḉo CM; Simonati A; Guerrini R; Santorelli FM
Neurogenetics; 2018 May; 19(2):123-130. PubMed ID: 29423566
[TBL] [Abstract][Full Text] [Related]
12. A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients.
Mo L; Tie X; Che F; Zhang L; Li B; Wang G; Yang Y
Pediatr Neurol; 2024 Mar; 152():200-208. PubMed ID: 38306901
[TBL] [Abstract][Full Text] [Related]
13. The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families.
Hashemi N; Abadi RNS; Alavi A; Rohani M; Ghasemi A; Tavasoli AR
Neurol Sci; 2023 Dec; 44(12):4359-4362. PubMed ID: 37410270
[TBL] [Abstract][Full Text] [Related]
14. A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: a case report with literature review.
Cao L; Huang XJ; Chen CJ; Chen SD
J Neurol Sci; 2013 Jun; 329(1-2):1-5. PubMed ID: 23566484
[TBL] [Abstract][Full Text] [Related]
15. Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration.
Engin Erdal A; Yürek B; Kıreker Köylü O; Ceylan AC; Çıtak Kurt AN; Kasapkara ÇS
J Pediatr Endocrinol Metab; 2024 Mar; 37(3):271-275. PubMed ID: 38353247
[TBL] [Abstract][Full Text] [Related]
16. Hereditary spastic paraplegia type 35 in a family from Mali.
Landouré G; Dembélé K; Cissé L; Samassékou O; Diarra S; Bocoum A; Dembélé ME; Fischbeck KH; Guinto CO;
Am J Med Genet A; 2019 Jul; 179(7):1122-1125. PubMed ID: 31087769
[TBL] [Abstract][Full Text] [Related]
17. FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.
Garone C; Pippucci T; Cordelli DM; Zuntini R; Castegnaro G; Marconi C; Graziano C; Marchiani V; Verrotti A; Seri M; Franzoni E
Dev Med Child Neurol; 2011 Oct; 53(10):958-61. PubMed ID: 21592092
[TBL] [Abstract][Full Text] [Related]
18. Fatty Acid 2-Hydroxylase and 2-Hydroxylated Sphingolipids: Metabolism and Function in Health and Diseases.
Eckhardt M
Int J Mol Sci; 2023 Mar; 24(5):. PubMed ID: 36902339
[TBL] [Abstract][Full Text] [Related]
19. Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments.
Magariello A; Russo C; Citrigno L; Züchner S; Patitucci A; Mazzei R; Conforti FL; Ferlazzo E; Aguglia U; Muglia M
J Neurol Sci; 2017 Jan; 372():347-349. PubMed ID: 28017243
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
