BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 31422367)

  • 1. 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]  

  • 2. Mutation screening of the
    Gu X; Li C; Chen Y; Wei Q; Cao B; Ou R; Yuan X; Hou Y; Zhang L; Liu H; Wu Y; Song W; Zhao B; Chen X; Shang HF
    J Neurol Neurosurg Psychiatry; 2019 Feb; 90(2):245-246. PubMed ID: 29954873
    [No 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. 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]  

  • 5. Genetic and functional analysis of KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis.
    Nakamura R; Tohnai G; Atsuta N; Nakatochi M; Hayashi N; Watanabe H; Yokoi D; Watanabe H; Katsuno M; Izumi Y; Taniguchi A; Kanai K; Morita M; Kano O; Kuwabara S; Oda M; Abe K; Aoki M; Aiba I; Okamoto K; Mizoguchi K; Hattori N; Nakashima K; Kaji R; Sobue G;
    Neurobiol Aging; 2021 Jan; 97():147.e11-147.e17. PubMed ID: 32888732
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Whole-Genome Sequencing Identified a Novel Mutation in the N-Terminal Domain of
    Wang H; Guan L; Ma X; Wang Y; Wang J; Zhang P; Deng M
    Genes (Basel); 2024 May; 15(6):. PubMed ID: 38927616
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Sural biopsy to detect the axonal cytoskeleton defects in
    Du K; Meng L; Lv H; Zhang W; Wang Z; Yuan Y
    Clin Neuropathol; 2021; 40(3):142-149. PubMed ID: 33155544
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Charcot-Marie-Tooth Disease Type 2-Like Phenotype due to a Novel Variant in the Stalk Domain of
    Liouta E; Poulidou V; Frontistis A; Moschou M; Fidani S; Papoulidis I; Spilioti M; Kimiskidis VK; Arnaoutoglou M
    Neurol India; 2023; 71(3):577-579. PubMed ID: 37322770
    [No Abstract]   [Full Text] [Related]  

  • 12. Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2.
    Lin S; Xu LQ; Xu GR; Guo LL; Lin BJ; Chen WJ; Wang N; Lin Y; He J
    Neurogenetics; 2020 Apr; 21(2):79-86. PubMed ID: 31832804
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene.
    Marchesi C; Ciano C; Salsano E; Nanetti L; Milani M; Gellera C; Taroni F; Fabrizi GM; Uncini A; Pareyson D
    Neuromuscul Disord; 2011 Feb; 21(2):129-31. PubMed ID: 20951041
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.
    Liu YT; Laurá M; Hersheson J; Horga A; Jaunmuktane Z; Brandner S; Pittman A; Hughes D; Polke JM; Sweeney MG; Proukakis C; Janssen JC; Auer-Grumbach M; Zuchner S; Shields KG; Reilly MM; Houlden H
    Neurology; 2014 Aug; 83(7):612-9. PubMed ID: 25008398
    [TBL] [Abstract][Full Text] [Related]  

  • 15. GLT8D1 may not be significant in Chinese sporadic amyotrophic lateral sclerosis patients.
    Yilihamu M; He J; Liu X; Tian J; Fan D
    Neurobiol Aging; 2021 Jun; 102():224.e1-224.e3. PubMed ID: 33714647
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.
    Park HJ; Kim HJ; Hong YB; Nam SH; Chung KW; Choi BO
    J Peripher Nerv Syst; 2014 Jun; 19(2):175-9. PubMed ID: 24750328
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. [Genetic distribution in Chinese patients with hereditary peripheral neuropathy].
    Liu XX; Duan XH; Zhang S; Sun AP; Zhang YS; Fan DS
    Beijing Da Xue Xue Bao Yi Xue Ban; 2022 Oct; 54(5):874-883. PubMed ID: 36241230
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation.
    Naruse H; Ishiura H; Mitsui J; Date H; Takahashi Y; Matsukawa T; Tanaka M; Ishii A; Tamaoka A; Hokkoku K; Sonoo M; Segawa M; Ugawa Y; Doi K; Yoshimura J; Morishita S; Goto J; Tsuji S
    Neurobiol Aging; 2018 Jan; 61():255.e9-255.e16. PubMed ID: 29033165
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.