620 related articles for article (PubMed ID: 27034427)
1. Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.
Hotchkiss L; Donkervoort S; Leach ME; Mohassel P; Bharucha-Goebel DX; Bradley N; Nguyen D; Hu Y; Gurgel-Giannetti J; Bönnemann CG
J Child Neurol; 2016 Aug; 31(9):1114-9. PubMed ID: 27034427
[TBL] [Abstract][Full Text] [Related]
2. Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.
Ylikallio E; Kim D; Isohanni P; Auranen M; Kim E; Lönnqvist T; Tyynismaa H
Eur J Hum Genet; 2015 Oct; 23(10):1427-30. PubMed ID: 25585697
[TBL] [Abstract][Full Text] [Related]
3. KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
Pennings M; Schouten MI; van Gaalen J; Meijer RPP; de Bot ST; Kriek M; Saris CGJ; van den Berg LH; van Es MA; Zuidgeest DMH; Elting MW; van de Kamp JM; van Spaendonck-Zwarts KY; Die-Smulders C; Brilstra EH; Verschuuren CC; de Vries BBA; Bruijn J; Sofou K; Duijkers FA; Jaeger B; Schieving JH; van de Warrenburg BP; Kamsteeg EJ
Eur J Hum Genet; 2020 Jan; 28(1):40-49. PubMed ID: 31488895
[TBL] [Abstract][Full Text] [Related]
4. Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene.
Cheon CK; Lim SH; Kim YM; Kim D; Lee NY; Yoon TS; Kim NS; Kim E; Lee JR
Sci Rep; 2017 Oct; 7(1):12527. PubMed ID: 28970574
[TBL] [Abstract][Full Text] [Related]
5. Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene.
Van Beusichem AE; Nicolai J; Verhoeven J; Speth L; Coenen M; Willemsen MA; Kamsteeg EJ; Stumpel C; Vermeulen RJ
Neuropediatrics; 2020 Apr; 51(2):146-153. PubMed ID: 31805580
[TBL] [Abstract][Full Text] [Related]
6. De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
Lee JR; Srour M; Kim D; Hamdan FF; Lim SH; Brunel-Guitton C; Décarie JC; Rossignol E; Mitchell GA; Schreiber A; Moran R; Van Haren K; Richardson R; Nicolai J; Oberndorff KM; Wagner JD; Boycott KM; Rahikkala E; Junna N; Tyynismaa H; Cuppen I; Verbeek NE; Stumpel CT; Willemsen MA; de Munnik SA; Rouleau GA; Kim E; Kamsteeg EJ; Kleefstra T; Michaud JL
Hum Mutat; 2015 Jan; 36(1):69-78. PubMed ID: 25265257
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
Klebe S; Lossos A; Azzedine H; Mundwiller E; Sheffer R; Gaussen M; Marelli C; Nawara M; Carpentier W; Meyer V; Rastetter A; Martin E; Bouteiller D; Orlando L; Gyapay G; El-Hachimi KH; Zimmerman B; Gamliel M; Misk A; Lerer I; Brice A; Durr A; Stevanin G
Eur J Hum Genet; 2012 Jun; 20(6):645-9. PubMed ID: 22258533
[TBL] [Abstract][Full Text] [Related]
9. A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia.
Kurihara M; Ishiura H; Bannai T; Mitsui J; Yoshimura J; Morishita S; Hayashi T; Shimizu J; Toda T; Tsuji S
Intern Med; 2020 Mar; 59(6):839-842. PubMed ID: 31813911
[TBL] [Abstract][Full Text] [Related]
10. Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.
Citterio A; Arnoldi A; Panzeri E; Merlini L; D'Angelo MG; Musumeci O; Toscano A; Bondi A; Martinuzzi A; Bresolin N; Bassi MT
J Neurol; 2015 Dec; 262(12):2684-90. PubMed ID: 26410750
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span.
Yücel-Yılmaz D; Yücesan E; Yalnızoğlu D; Oğuz KK; Sağıroğlu MŞ; Özbek U; Serdaroğlu E; Bilgiç B; Erdem S; İşeri SAU; Hanağası H; Gürvit H; Özgül RK; Dursun A
Brain Dev; 2018 Jun; 40(6):458-464. PubMed ID: 29544888
[TBL] [Abstract][Full Text] [Related]
13. Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report.
Spagnoli C; Rizzi S; Salerno GG; Frattini D; Fusco C
Ital J Pediatr; 2019 Dec; 45(1):155. PubMed ID: 31796088
[TBL] [Abstract][Full Text] [Related]
14. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Klebe S; Depienne C; Gerber S; Challe G; Anheim M; Charles P; Fedirko E; Lejeune E; Cottineau J; Brusco A; Dollfus H; Chinnery PF; Mancini C; Ferrer X; Sole G; Destée A; Mayer JM; Fontaine B; de Seze J; Clanet M; Ollagnon E; Busson P; Cazeneuve C; Stevanin G; Kaplan J; Rozet JM; Brice A; Durr A
Brain; 2012 Oct; 135(Pt 10):2980-93. PubMed ID: 23065789
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Minnerop M; Kurzwelly D; Wagner H; Soehn AS; Reichbauer J; Tao F; Rattay TW; Peitz M; Rehbach K; Giorgetti A; Pyle A; Thiele H; Altmüller J; Timmann D; Karaca I; Lennarz M; Baets J; Hengel H; Synofzik M; Atasu B; Feely S; Kennerson M; Stendel C; Lindig T; Gonzalez MA; Stirnberg R; Sturm M; Roeske S; Jung J; Bauer P; Lohmann E; Herms S; Heilmann-Heimbach S; Nicholson G; Mahanjah M; Sharkia R; Carloni P; Brüstle O; Klopstock T; Mathews KD; Shy ME; de Jonghe P; Chinnery PF; Horvath R; Kohlhase J; Schmitt I; Wolf M; Greschus S; Amunts K; Maier W; Schöls L; Nürnberg P; Zuchner S; Klockgether T; Ramirez A; Schüle R
Brain; 2017 Jun; 140(6):1561-1578. PubMed ID: 28459997
[TBL] [Abstract][Full Text] [Related]
17. KIF1A mutation in a patient with progressive neurodegeneration.
Okamoto N; Miya F; Tsunoda T; Yanagihara K; Kato M; Saitoh S; Yamasaki M; Kanemura Y; Kosaki K
J Hum Genet; 2014 Nov; 59(11):639-41. PubMed ID: 25253658
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Goizet C; Boukhris A; Durr A; Beetz C; Truchetto J; Tesson C; Tsaousidou M; Forlani S; Guyant-Maréchal L; Fontaine B; Guimarães J; Isidor B; Chazouillères O; Wendum D; Grid D; Chevy F; Chinnery PF; Coutinho P; Azulay JP; Feki I; Mochel F; Wolf C; Mhiri C; Crosby A; Brice A; Stevanin G
Brain; 2009 Jun; 132(Pt 6):1589-600. PubMed ID: 19439420
[TBL] [Abstract][Full Text] [Related]
20. A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.
Tomaselli PJ; Rossor AM; Horga A; Laura M; Blake JC; Houlden H; Reilly MM
J Peripher Nerv Syst; 2017 Dec; 22(4):460-463. PubMed ID: 28834584
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]