152 related articles for article (PubMed ID: 36239107)
1. Two novel mutations in ALDH18A1 and SPG11 gene found by whole-exome sequencing in spastic paraplegia disease patients in Iran.
Komachali SR; Siahpoosh Z; Salehi M
Genomics Inform; 2022 Sep; 20(3):e30. PubMed ID: 36239107
[TBL] [Abstract][Full Text] [Related]
2. Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1.
Kalmár T; Maróti Z; Zimmermann A; Sztriha L
Brain Dev; 2021 Jan; 43(1):144-151. PubMed ID: 32798076
[TBL] [Abstract][Full Text] [Related]
3. Novel Compound Missense and Intronic Splicing Mutation in
Chen YJ; Zhang ZQ; Wang MW; Qiu YS; Yuan RY; Dong EL; Zhao Z; Zhou HT; Wang N; Chen WJ; Lin X
Front Neurol; 2021; 12():627531. PubMed ID: 34093392
[No Abstract] [Full Text] [Related]
4. Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Kara E; Tucci A; Manzoni C; Lynch DS; Elpidorou M; Bettencourt C; Chelban V; Manole A; Hamed SA; Haridy NA; Federoff M; Preza E; Hughes D; Pittman A; Jaunmuktane Z; Brandner S; Xiromerisiou G; Wiethoff S; Schottlaender L; Proukakis C; Morris H; Warner T; Bhatia KP; Korlipara LV; Singleton AB; Hardy J; Wood NW; Lewis PA; Houlden H
Brain; 2016 Jul; 139(Pt 7):1904-18. PubMed ID: 27217339
[TBL] [Abstract][Full Text] [Related]
5. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Coutelier M; Goizet C; Durr A; Habarou F; Morais S; Dionne-Laporte A; Tao F; Konop J; Stoll M; Charles P; Jacoupy M; Matusiak R; Alonso I; Tallaksen C; Mairey M; Kennerson M; Gaussen M; Schule R; Janin M; Morice-Picard F; Durand CM; Depienne C; Calvas P; Coutinho P; Saudubray JM; Rouleau G; Brice A; Nicholson G; Darios F; Loureiro JL; Zuchner S; Ottolenghi C; Mochel F; Stevanin G
Brain; 2015 Aug; 138(Pt 8):2191-205. PubMed ID: 26026163
[TBL] [Abstract][Full Text] [Related]
6. Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in
Yu AC; Chan AY; Au WC; Shen Y; Chan TF; Chan HE
Cold Spring Harb Mol Case Stud; 2016 Nov; 2(6):a001248. PubMed ID: 27900367
[TBL] [Abstract][Full Text] [Related]
7. Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment.
Koh K; Ishiura H; Beppu M; Shimazaki H; Ichinose Y; Mitsui J; Kuwabara S; Tsuji S; Takiyama Y;
J Hum Genet; 2018 Sep; 63(9):1009-1013. PubMed ID: 29915212
[TBL] [Abstract][Full Text] [Related]
8. SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report.
Koh K; Takaki R; Ishiura H; Tsuji S; Takiyama Y
BMC Neurol; 2021 Feb; 21(1):64. PubMed ID: 33573605
[TBL] [Abstract][Full Text] [Related]
9. Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.
Krenn M; Zulehner G; Hotzy C; Rath J; Stogmann E; Wagner M; Haack TB; Strom TM; Zimprich A; Zimprich F
Eur J Neurol; 2017 May; 24(5):741-747. PubMed ID: 28332297
[TBL] [Abstract][Full Text] [Related]
10. Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.
Mademont-Soler I; Esteba-Castillo S; Jiménez-Xifra A; Alemany B; Ribas-Vidal N; Cutillas M; Coll M; Pinsach ML; Pagans S; Alcalde M; Viñas-Jornet M; Montero-Vale M; de Castro-Miró M; Rodríguez J; Armengol L; Queralt X; Obón M
Mol Genet Genomic Med; 2024 Jun; 12(6):e2475. PubMed ID: 38938072
[TBL] [Abstract][Full Text] [Related]
11. Δ
Marco-Marín C; Escamilla-Honrubia JM; Llácer JL; Seri M; Panza E; Rubio V
J Inherit Metab Dis; 2020 Jul; 43(4):657-670. PubMed ID: 32017139
[TBL] [Abstract][Full Text] [Related]
12. A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81.
Sarma AS; Siddardha B; T PL; Ranganath P; Dalal A
J Gene Med; 2023 Jul; 25(7):e3501. PubMed ID: 36942482
[TBL] [Abstract][Full Text] [Related]
13. Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.
Bettencourt C; López-Sendón JL; García-Caldentey J; Rizzu P; Bakker IM; Shomroni O; Quintáns B; Dávila JR; Bevova MR; Sobrido MJ; Heutink P; de Yébenes JG
Clin Genet; 2014 Feb; 85(2):154-8. PubMed ID: 23438842
[TBL] [Abstract][Full Text] [Related]
14. Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
Estrada-Cuzcano A; Martin S; Chamova T; Synofzik M; Timmann D; Holemans T; Andreeva A; Reichbauer J; De Rycke R; Chang DI; van Veen S; Samuel J; Schöls L; Pöppel T; Mollerup Sørensen D; Asselbergh B; Klein C; Zuchner S; Jordanova A; Vangheluwe P; Tournev I; Schüle R
Brain; 2017 Feb; 140(2):287-305. PubMed ID: 28137957
[TBL] [Abstract][Full Text] [Related]
15. Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families.
Zulfiqar S; Tariq M; Ali Z; Fatima A; Klar J; Abdullah U; Ali A; Ramzan S; He S; Zhang J; Khan A; Shah S; Khan S; Makhdoom EH; Schuster J; Dahl N; Baig SM
J Clin Neurosci; 2019 Sep; 67():19-23. PubMed ID: 31281085
[TBL] [Abstract][Full Text] [Related]
16. KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families.
Rudenskaya GE; Kadnikova VA; Ryzhkova OP; Bessonova LA; Dadali EL; Guseva DS; Markova TV; Khmelkova DN; Polyakov AV
BMC Neurol; 2020 Aug; 20(1):290. PubMed ID: 32746806
[TBL] [Abstract][Full Text] [Related]
17. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Montecchiani C; Pedace L; Lo Giudice T; Casella A; Mearini M; Gaudiello F; Pedroso JL; Terracciano C; Caltagirone C; Massa R; St George-Hyslop PH; Barsottini OG; Kawarai T; Orlacchio A
Brain; 2016 Jan; 139(Pt 1):73-85. PubMed ID: 26556829
[TBL] [Abstract][Full Text] [Related]
18. Identification of a Mutation in SPG11 in an Iranian Patient with Spastic Paraplegia and Ears of the Lynx Sign.
Sayad A; Akbari MT; Hesami O; Ghafouri-Fard S; Taheri M
J Mol Neurosci; 2020 Jun; 70(6):959-961. PubMed ID: 32040826
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Case report: Novel mutations in the SPG11 gene in a case of autosomal recessive hereditary spastic paraplegia with a thin corpus callosum.
Duan JQ; Liu H; Wu JQ
Front Integr Neurosci; 2023; 17():1117617. PubMed ID: 37035454
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
