142 related articles for article (PubMed ID: 36604770)
1. Expanding the spectrum of
Dulski J; Strongosky AJ; Al-Shaikh RH; Wszolek ZK
Amyotroph Lateral Scler Frontotemporal Degener; 2023 May; 24(3-4):347-350. PubMed ID: 36604770
[TBL] [Abstract][Full Text] [Related]
2. Hot-spot KIF5A mutations cause familial ALS.
Brenner D; Yilmaz R; Müller K; Grehl T; Petri S; Meyer T; Grosskreutz J; Weydt P; Ruf W; Neuwirth C; Weber M; Pinto S; Claeys KG; Schrank B; Jordan B; Knehr A; Günther K; Hübers A; Zeller D; Kubisch C; Jablonka S; Sendtner M; Klopstock T; de Carvalho M; Sperfeld A; Borck G; Volk AE; Dorst J; Weis J; Otto M; Schuster J; Del Tredici K; Braak H; Danzer KM; Freischmidt A; Meitinger T; Strom TM; Ludolph AC; Andersen PM; Weishaupt JH;
Brain; 2018 Mar; 141(3):688-697. PubMed ID: 29342275
[TBL] [Abstract][Full Text] [Related]
3. Mutation analysis of KIF5A in Chinese amyotrophic lateral sclerosis patients.
Zhang K; Liu Q; Shen D; Tai H; Liu S; Wang Z; Shi J; Fu H; Wu S; Ding Q; Hu Y; Wu Y; Li X; Guan Y; Liu M; Cui L; Zhang X
Neurobiol Aging; 2019 Jan; 73():229.e1-229.e4. PubMed ID: 30301576
[TBL] [Abstract][Full Text] [Related]
4. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A; Kenna KP; Renton AE; Ticozzi N; Faghri F; Chia R; Dominov JA; Kenna BJ; Nalls MA; Keagle P; Rivera AM; van Rheenen W; Murphy NA; van Vugt JJFA; Geiger JT; Van der Spek RA; Pliner HA; Shankaracharya ; Smith BN; Marangi G; Topp SD; Abramzon Y; Gkazi AS; Eicher JD; Kenna A; ; Mora G; Calvo A; Mazzini L; Riva N; Mandrioli J; Caponnetto C; Battistini S; Volanti P; La Bella V; Conforti FL; Borghero G; Messina S; Simone IL; Trojsi F; Salvi F; Logullo FO; D'Alfonso S; Corrado L; Capasso M; Ferrucci L; ; Moreno CAM; Kamalakaran S; Goldstein DB; ; Gitler AD; Harris T; Myers RM; ; Phatnani H; Musunuri RL; Evani US; Abhyankar A; Zody MC; ; Kaye J; Finkbeiner S; Wyman SK; LeNail A; Lima L; Fraenkel E; Svendsen CN; Thompson LM; Van Eyk JE; Berry JD; Miller TM; Kolb SJ; Cudkowicz M; Baxi E; ; Benatar M; Taylor JP; Rampersaud E; Wu G; Wuu J; ; Lauria G; Verde F; Fogh I; Tiloca C; Comi GP; Sorarù G; Cereda C; ; Corcia P; Laaksovirta H; Myllykangas L; Jansson L; Valori M; Ealing J; Hamdalla H; Rollinson S; Pickering-Brown S; Orrell RW; Sidle KC; Malaspina A; Hardy J; Singleton AB; Johnson JO; Arepalli S; Sapp PC; McKenna-Yasek D; Polak M; Asress S; Al-Sarraj S; King A; Troakes C; Vance C; de Belleroche J; Baas F; Ten Asbroek ALMA; Muñoz-Blanco JL; Hernandez DG; Ding J; Gibbs JR; Scholz SW; Floeter MK; Campbell RH; Landi F; Bowser R; Pulst SM; Ravits JM; MacGowan DJL; Kirby J; Pioro EP; Pamphlett R; Broach J; Gerhard G; Dunckley TL; Brady CB; Kowall NW; Troncoso JC; Le Ber I; Mouzat K; Lumbroso S; Heiman-Patterson TD; Kamel F; Van Den Bosch L; Baloh RH; Strom TM; Meitinger T; Shatunov A; Van Eijk KR; de Carvalho M; Kooyman M; Middelkoop B; Moisse M; McLaughlin RL; Van Es MA; Weber M; Boylan KB; Van Blitterswijk M; Rademakers R; Morrison KE; Basak AN; Mora JS; Drory VE; Shaw PJ; Turner MR; Talbot K; Hardiman O; Williams KL; Fifita JA; Nicholson GA; Blair IP; Rouleau GA; Esteban-Pérez J; García-Redondo A; Al-Chalabi A; ; Rogaeva E; Zinman L; Ostrow LW; Maragakis NJ; Rothstein JD; Simmons Z; Cooper-Knock J; Brice A; Goutman SA; Feldman EL; Gibson SB; Taroni F; Ratti A; Gellera C; Van Damme P; Robberecht W; Fratta P; Sabatelli M; Lunetta C; Ludolph AC; Andersen PM; Weishaupt JH; Camu W; Trojanowski JQ; Van Deerlin VM; Brown RH; van den Berg LH; Veldink JH; Harms MB; Glass JD; Stone DJ; Tienari P; Silani V; Chiò A; Shaw CE; Traynor BJ; Landers JE
Neuron; 2018 Mar; 97(6):1267-1288. PubMed ID: 29566793
[TBL] [Abstract][Full Text] [Related]
5. Genotype-phenotype correlations of
de Boer EMJ; van Rheenen W; Goedee HS; Kamsteeg EJ; Brilstra EH; Veldink JH; van Den Berg LH; van Es MA
Amyotroph Lateral Scler Frontotemporal Degener; 2021 Nov; 22(7-8):561-570. PubMed ID: 33829936
[TBL] [Abstract][Full Text] [Related]
6. Generation of an iPSC line from a patient with spastic paraplegia type 10 carrying a novel mutation in KIF5A gene.
Santangelo S; Bossolasco P; Magri S; Colombrita C; Invernizzi S; Gellera C; Nanetti L; Di Bella D; Silani V; Taroni F; Ratti A
Stem Cell Res; 2023 Feb; 66():103008. PubMed ID: 36565680
[TBL] [Abstract][Full Text] [Related]
7. Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis.
Kaji S; Kawarai T; Miyamoto R; Nodera H; Pedace L; Orlacchio A; Izumi Y; Takahashi R; Kaji R
J Neurol Sci; 2016 May; 364():45-9. PubMed ID: 27084214
[TBL] [Abstract][Full Text] [Related]
8. Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p.
Hsiung GY; DeJesus-Hernandez M; Feldman HH; Sengdy P; Bouchard-Kerr P; Dwosh E; Butler R; Leung B; Fok A; Rutherford NJ; Baker M; Rademakers R; Mackenzie IR
Brain; 2012 Mar; 135(Pt 3):709-22. PubMed ID: 22344582
[TBL] [Abstract][Full Text] [Related]
9. Wide phenotypic spectrum in axonal Charcot-Marie-Tooth neuropathy type 2 patients with KIF5A mutations.
Nam DE; Yoo DH; Choi SS; Choi BO; Chung KW
Genes Genomics; 2018 Jan; 40(1):77-84. PubMed ID: 29892902
[TBL] [Abstract][Full Text] [Related]
10. Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis.
Naruse H; Ishiura H; Mitsui J; Takahashi Y; Matsukawa T; Sakuishi K; Nakamagoe K; Miyake Z; Tamaoka A; Goto J; Yoshimura J; Doi K; Morishita S; Toda T; Tsuji S
Neurogenetics; 2021 Mar; 22(1):11-17. PubMed ID: 32815063
[TBL] [Abstract][Full Text] [Related]
11. Intrafamilial phenotypic heterogeneity in a Taiwanese family with a MAPT p.R5H mutation: a case report and literature review.
Lin HC; Lin CH; Chen PL; Cheng SJ; Chen PH
BMC Neurol; 2017 Sep; 17(1):186. PubMed ID: 28923025
[TBL] [Abstract][Full Text] [Related]
12. Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia.
Yan J; Deng HX; Siddique N; Fecto F; Chen W; Yang Y; Liu E; Donkervoort S; Zheng JG; Shi Y; Ahmeti KB; Brooks B; Engel WK; Siddique T
Neurology; 2010 Aug; 75(9):807-14. PubMed ID: 20668259
[TBL] [Abstract][Full Text] [Related]
13. Whole-exome sequencing identified novel KIF5A mutations in Chinese patients with amyotrophic lateral sclerosis and Charcot-Marie-Tooth type 2.
He J; Liu X; Tang L; Zhao C; He J; Fan D
J Neurol Neurosurg Psychiatry; 2020 Mar; 91(3):326-328. PubMed ID: 31422367
[No Abstract] [Full Text] [Related]
14. Longitudinal imaging in
Floeter MK; Bageac D; Danielian LE; Braun LE; Traynor BJ; Kwan JY
Neuroimage Clin; 2016; 12():1035-1043. PubMed ID: 27995069
[TBL] [Abstract][Full Text] [Related]
15. Novel TARDBP missense mutation caused familial amyotrophic lateral sclerosis with frontotemporal dementia and parkinsonism.
Chen S; Zhou RL; Zhang W; Che CH; Feng SY; Huang HP; Liu CY; Zou ZY
Neurobiol Aging; 2021 Nov; 107():168-173. PubMed ID: 34175147
[TBL] [Abstract][Full Text] [Related]
16. Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort.
Van Mossevelde S; van der Zee J; Gijselinck I; Engelborghs S; Sieben A; Van Langenhove T; De Bleecker J; Baets J; Vandenbulcke M; Van Laere K; Ceyssens S; Van den Broeck M; Peeters K; Mattheijssens M; Cras P; Vandenberghe R; De Jonghe P; Martin JJ; De Deyn PP; Cruts M; Van Broeckhoven C;
Brain; 2016 Feb; 139(Pt 2):452-67. PubMed ID: 26674655
[TBL] [Abstract][Full Text] [Related]
17. Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature.
Giannoccaro MP; Bartoletti-Stella A; Piras S; Pession A; De Massis P; Oppi F; Stanzani-Maserati M; Pasini E; Baiardi S; Avoni P; Parchi P; Liguori R; Capellari S
J Neurol; 2017 Jul; 264(7):1426-1433. PubMed ID: 28620717
[TBL] [Abstract][Full Text] [Related]
18. Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred.
Saez-Atienzar S; Dalgard CL; Ding J; Chiò A; Alba C; Hupalo DN; Wilkerson MD; Bowser R; Pioro EP; Bedlack R; Traynor BJ
Neurology; 2020 Dec; 95(22):1015-1018. PubMed ID: 33077544
[No Abstract] [Full Text] [Related]
19. Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia.
Gkazi SA; Troakes C; Topp S; Miller JW; Vance CA; Sreedharan J; Al-Chalabi A; Kirby J; Shaw PJ; Al-Sarraj S; King A; Smith BN; Shaw CE
Neurobiol Aging; 2019 Jan; 73():229.e5-229.e9. PubMed ID: 30348461
[TBL] [Abstract][Full Text] [Related]
20. Lab resource: Single cell line generation and characterization of a human-derived induced pluripotent stem cell line (IGIBi005-A) from a patient with spastic paraplegia/ataxia/ALS phenotype due to the mutation of the gene Kinesin Family Member 5A (KIF5A).
Ahmad I; Goel D; Ghosh A; Kapoor H; Kumar D; Srivastava AK; Faruq M
Stem Cell Res; 2022 Oct; 64():102904. PubMed ID: 36055117
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
