BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

418 related articles for article (PubMed ID: 33236446)

  • 1. EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
    Kuipers DJS; Mandemakers W; Lu CS; Olgiati S; Breedveld GJ; Fevga C; Tadic V; Carecchio M; Osterman B; Sagi-Dain L; Wu-Chou YH; Chen CC; Chang HC; Wu SL; Yeh TH; Weng YH; Elia AE; Panteghini C; Marotta N; Pauly MG; Kühn AA; Volkmann J; Lace B; Meijer IA; Kandaswamy K; Quadri M; Garavaglia B; Lohmann K; Bauer P; Mencacci NE; Lubbe SJ; Klein C; Bertoli-Avella AM; Bonifati V
    Ann Neurol; 2021 Mar; 89(3):485-497. PubMed ID: 33236446
    [TBL] [Abstract][Full Text] [Related]  

  • 2. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
    Mao D; Reuter CM; Ruzhnikov MRZ; Beck AE; Farrow EG; Emrick LT; Rosenfeld JA; Mackenzie KM; Robak L; Wheeler MT; Burrage LC; Jain M; Liu P; Calame D; Küry S; Sillesen M; Schmitz-Abe K; Tonduti D; Spaccini L; Iascone M; Genetti CA; Koenig MK; Graf M; Tran A; Alejandro M; ; Lee BH; Thiffault I; Agrawal PB; Bernstein JA; Bellen HJ; Chao HT
    Am J Hum Genet; 2020 Apr; 106(4):570-583. PubMed ID: 32197074
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Altered activation of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in PKR activator protein PACT.
    Vaughn LS; Bragg DC; Sharma N; Camargos S; Cardoso F; Patel RC
    J Biol Chem; 2015 Sep; 290(37):22543-57. PubMed ID: 26231208
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Dystonia 16 (DYT16) mutations in PACT cause dysregulated PKR activation and eIF2α signaling leading to a compromised stress response.
    Burnett SB; Vaughn LS; Sharma N; Kulkarni R; Patel RC
    Neurobiol Dis; 2020 Dec; 146():105135. PubMed ID: 33049316
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A Recurrent EIF2AK2 Missense Variant Causes Autosomal-Dominant Isolated Dystonia.
    Musacchio T; Zech M; Reich MM; Winkelmann J; Volkmann J
    Ann Neurol; 2021 Jun; 89(6):1257-1258. PubMed ID: 33866603
    [No Abstract]   [Full Text] [Related]  

  • 6. Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.
    Harrer P; Škorvánek M; Kittke V; Dzinovic I; Borngräber F; Thomsen M; Mandel V; Svorenova T; Ostrozovicova M; Kulcsarova K; Berutti R; Busch H; Ott F; Kopajtich R; Prokisch H; Kumar KR; Mencacci NE; Kurian MA; Di Fonzo A; Boesch S; Kühn AA; Blümlein U; Lohmann K; Haslinger B; Weise D; Jech R; Winkelmann J; Zech M
    Mov Disord; 2023 Oct; 38(10):1914-1924. PubMed ID: 37485550
    [TBL] [Abstract][Full Text] [Related]  

  • 7. DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.
    Zech M; Castrop F; Schormair B; Jochim A; Wieland T; Gross N; Lichtner P; Peters A; Gieger C; Meitinger T; Strom TM; Oexle K; Haslinger B; Winkelmann J
    Mov Disord; 2014 Oct; 29(12):1504-10. PubMed ID: 25142429
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.
    Zech M; Boesch S; Maier EM; Borggraefe I; Vill K; Laccone F; Pilshofer V; Ceballos-Baumann A; Alhaddad B; Berutti R; Poewe W; Haack TB; Haslinger B; Strom TM; Winkelmann J
    Am J Hum Genet; 2016 Dec; 99(6):1377-1387. PubMed ID: 27839873
    [TBL] [Abstract][Full Text] [Related]  

  • 9. AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.
    Garavaglia B; Vallian S; Romito LM; Straccia G; Capecci M; Invernizzi F; Andrenelli E; Kazemi A; Boesch S; Kopajtich R; Olfati N; Shariati M; Shoeibi A; Sadr-Nabavi A; Prokisch H; Winkelmann J; Zech M
    Parkinsonism Relat Disord; 2022 Apr; 97():52-56. PubMed ID: 35306330
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.
    Doss S; Lohmann K; Seibler P; Arns B; Klopstock T; Zühlke C; Freimann K; Winkler S; Lohnau T; Drungowski M; Nürnberg P; Wiegers K; Lohmann E; Naz S; Kasten M; Bohner G; Ramirez A; Endres M; Klein C
    J Neurol; 2014 Jan; 261(1):207-12. PubMed ID: 24202787
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The protein activator of protein kinase R, PACT/RAX, negatively regulates protein kinase R during mouse anterior pituitary development.
    Dickerman BK; White CL; Kessler PM; Sadler AJ; Williams BR; Sen GC
    FEBS J; 2015 Dec; 282(24):4766-81. PubMed ID: 26414443
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Clinical and genetic analysis of childhood-onset myoclonus dystonia syndrome caused by SGCE variants].
    Tian XJ; Ding CH; Zhang YH; Dai LF; Chen CH; Li JW; Wang X; Han TL; Wang XH; Deng J
    Zhonghua Er Ke Za Zhi; 2020 Feb; 58(2):123-128. PubMed ID: 32102149
    [No Abstract]   [Full Text] [Related]  

  • 13. Monogenic variants in dystonia: an exome-wide sequencing study.
    Zech M; Jech R; Boesch S; Škorvánek M; Weber S; Wagner M; Zhao C; Jochim A; Necpál J; Dincer Y; Vill K; Distelmaier F; Stoklosa M; Krenn M; Grunwald S; Bock-Bierbaum T; Fečíková A; Havránková P; Roth J; Příhodová I; Adamovičová M; Ulmanová O; Bechyně K; Danhofer P; Veselý B; Haň V; Pavelekova P; Gdovinová Z; Mantel T; Meindl T; Sitzberger A; Schröder S; Blaschek A; Roser T; Bonfert MV; Haberlandt E; Plecko B; Leineweber B; Berweck S; Herberhold T; Langguth B; Švantnerová J; Minár M; Ramos-Rivera GA; Wojcik MH; Pajusalu S; Õunap K; Schatz UA; Pölsler L; Milenkovic I; Laccone F; Pilshofer V; Colombo R; Patzer S; Iuso A; Vera J; Troncoso M; Fang F; Prokisch H; Wilbert F; Eckenweiler M; Graf E; Westphal DS; Riedhammer KM; Brunet T; Alhaddad B; Berutti R; Strom TM; Hecht M; Baumann M; Wolf M; Telegrafi A; Person RE; Zamora FM; Henderson LB; Weise D; Musacchio T; Volkmann J; Szuto A; Becker J; Cremer K; Sycha T; Zimprich F; Kraus V; Makowski C; Gonzalez-Alegre P; Bardakjian TM; Ozelius LJ; Vetro A; Guerrini R; Maier E; Borggraefe I; Kuster A; Wortmann SB; Hackenberg A; Steinfeld R; Assmann B; Staufner C; Opladen T; Růžička E; Cohn RD; Dyment D; Chung WK; Engels H; Ceballos-Baumann A; Ploski R; Daumke O; Haslinger B; Mall V; Oexle K; Winkelmann J
    Lancet Neurol; 2020 Nov; 19(11):908-918. PubMed ID: 33098801
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The Expanding Phenotypic Spectrums Associated with ATP1A3 Mutation in a Family with Rapid-Onset Dystonia Parkinsonism.
    Yuan Y; Ran L; Lei L; Zhu H; Zhu X; Chen H
    Neurodegener Dis; 2020; 20(2-3):84-89. PubMed ID: 33326973
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel THAP1 sequence variants in primary dystonia.
    Xiao J; Zhao Y; Bastian RW; Perlmutter JS; Racette BA; Tabbal SD; Karimi M; Paniello RC; Wszolek ZK; Uitti RJ; Van Gerpen JA; Simon DK; Tarsy D; Hedera P; Truong DD; Frei KP; Dev Batish S; Blitzer A; Pfeiffer RF; Gong S; LeDoux MS
    Neurology; 2010 Jan; 74(3):229-38. PubMed ID: 20083799
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The double-stranded RNA-activated protein kinase PKR is dispensable for regulation of translation initiation in response to either calcium mobilization from the endoplasmic reticulum or essential amino acid starvation.
    Kimball SR; Clemens MJ; Tilleray VJ; Wek RC; Horetsky RL; Jefferson LS
    Biochem Biophys Res Commun; 2001 Jan; 280(1):293-300. PubMed ID: 11162513
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family.
    Khan AU; Khan I; Khan MI; Latif M; Siddiqui MI; Khan SU; Htar TT; Wahid G; Ullah I; Bibi F; Khan A; Naseer MI; Seo GH; Jelani M
    Am J Med Genet A; 2022 Sep; 188(9):2693-2700. PubMed ID: 35703069
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A truncated PACT protein resulting from a frameshift mutation reported in movement disorder DYT16 triggers caspase activation and apoptosis.
    Burnett SB; Vaughn LS; Strom JM; Francois A; Patel RC
    J Cell Biochem; 2019 Nov; 120(11):19004-19018. PubMed ID: 31246344
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
    Zech M; Kumar KR; Reining S; Reunert J; Tchan M; Riley LG; Drew AP; Adam RJ; Berutti R; Biskup S; Derive N; Bakhtiari S; Jin SC; Kruer MC; Bardakjian T; Gonzalez-Alegre P; Keller Sarmiento IJ; Mencacci NE; Lubbe SJ; Kurian MA; Clot F; Méneret A; de Sainte Agathe JM; Fung VSC; Vidailhet M; Baumann M; Marquardt T; Winkelmann J; Boesch S
    Mov Disord; 2022 Jan; 37(1):137-147. PubMed ID: 34596301
    [TBL] [Abstract][Full Text] [Related]  

  • 20. KMT2B rare missense variants in generalized dystonia.
    Zech M; Jech R; Havránková P; Fečíková A; Berutti R; Urgošík D; Kemlink D; Strom TM; Roth J; Růžička E; Winkelmann J
    Mov Disord; 2017 Jul; 32(7):1087-1091. PubMed ID: 28520167
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.