BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

167 related articles for article (PubMed ID: 36860166)

  • 1. Variants in ATP5F1B are associated with dominantly inherited dystonia.
    Nasca A; Mencacci NE; Invernizzi F; Zech M; Keller Sarmiento IJ; Legati A; Frascarelli C; Bustos BI; Romito LM; Krainc D; Winkelmann J; Carecchio M; Nardocci N; Zorzi G; Prokisch H; Lubbe SJ; Garavaglia B; Ghezzi D
    Brain; 2023 Jul; 146(7):2730-2738. PubMed ID: 36860166
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
    Zech M; Kopajtich R; Steinbrücker K; Bris C; Gueguen N; Feichtinger RG; Achleitner MT; Duzkale N; Périvier M; Koch J; Engelhardt H; Freisinger P; Wagner M; Brunet T; Berutti R; Smirnov D; Navaratnarajah T; Rodenburg RJT; Pais LS; Austin-Tse C; O'Leary M; Boesch S; Jech R; Bakhtiari S; Jin SC; Wilbert F; Kruer MC; Wortmann SB; Eckenweiler M; Mayr JA; Distelmaier F; Steinfeld R; Winkelmann J; Prokisch H
    Ann Neurol; 2022 Feb; 91(2):225-237. PubMed ID: 34954817
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
    Neilson DE; Zech M; Hufnagel RB; Slone J; Wang X; Homan S; Gutzwiller LM; Leslie EJ; Leslie ND; Xiao J; Hedera P; LeDoux MS; Gebelein B; Wilbert F; Eckenweiler M; Winkelmann J; Gilbert DL; Huang T
    Mov Disord; 2022 Feb; 37(2):375-383. PubMed ID: 34636445
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.
    Baide-Mairena H; Gaudó P; Marti-Sánchez L; Emperador S; Sánchez-Montanez A; Alonso-Luengo O; Correa M; Grau AM; Ortigoza-Escobar JD; Artuch R; Vázquez E; Del Toro M; Garrido-Pérez N; Ruiz-Pesini E; Montoya J; Bayona-Bafaluy MP; Pérez-Dueñas B
    Mol Genet Metab; 2019 Mar; 126(3):250-258. PubMed ID: 30642748
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.
    Mayr JA; Havlícková V; Zimmermann F; Magler I; Kaplanová V; Jesina P; Pecinová A; Nusková H; Koch J; Sperl W; Houstek J
    Hum Mol Genet; 2010 Sep; 19(17):3430-9. PubMed ID: 20566710
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel THAP1 missense variant with incomplete penetrance in a case of generalized young onset dystonia showing good response to deep brain stimulation.
    Keller Sarmiento IJ; Fraint A; Kinsley L; Akhtar RS; Silani V; Lubbe SJ; Krainc D; Mencacci NE
    Parkinsonism Relat Disord; 2022 Dec; 105():7-8. PubMed ID: 36323131
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
    Zech M; Brunet T; Škorvánek M; Blaschek A; Vill K; Hanker B; Hüning I; Haň V; Došekova P; Gdovinová Z; Alhaddad B; Berutti R; Strom TM; Růžička E; Kamsteeg EJ; van der Smagt JJ; Wagner M; Jech R; Winkelmann J
    Parkinsonism Relat Disord; 2020 Aug; 77():70-75. PubMed ID: 32629324
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?
    Huang M; Nibbeling EAR; Lagrand TJ; Souza IA; Groen JL; Gandini MA; Zhang FX; Koelman JHTM; Adir N; Sinke RJ; Zamponi GW; Tijssen MAJ; Verbeek DS
    Mol Brain; 2021 Jan; 14(1):18. PubMed ID: 33478561
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation.
    Ganetzky RD; Markhard AL; Yee I; Clever S; Cahill A; Shah H; Grabarek Z; To TL; Mootha VK
    N Engl J Med; 2022 Oct; 387(15):1395-1403. PubMed ID: 36239646
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.
    Zimprich A; Grabowski M; Asmus F; Naumann M; Berg D; Bertram M; Scheidtmann K; Kern P; Winkelmann J; Müller-Myhsok B; Riedel L; Bauer M; Müller T; Castro M; Meitinger T; Strom TM; Gasser T
    Nat Genet; 2001 Sep; 29(1):66-9. PubMed ID: 11528394
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
    Zech M; Lam DD; Francescatto L; Schormair B; Salminen AV; Jochim A; Wieland T; Lichtner P; Peters A; Gieger C; Lochmüller H; Strom TM; Haslinger B; Katsanis N; Winkelmann J
    Am J Hum Genet; 2015 Jun; 96(6):883-93. PubMed ID: 26004199
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
    Mencacci NE; Rubio-Agusti I; Zdebik A; Asmus F; Ludtmann MH; Ryten M; Plagnol V; Hauser AK; Bandres-Ciga S; Bettencourt C; Forabosco P; Hughes D; Soutar MM; Peall K; Morris HR; Trabzuni D; Tekman M; Stanescu HC; Kleta R; Carecchio M; Zorzi G; Nardocci N; Garavaglia B; Lohmann E; Weissbach A; Klein C; Hardy J; Pittman AM; Foltynie T; Abramov AY; Gasser T; Bhatia KP; Wood NW
    Am J Hum Genet; 2015 Jun; 96(6):938-47. PubMed ID: 25983243
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Rare variants in IMPDH2 cause autosomal dominant dystonia in Chinese population.
    Lin J; Li C; Cui Y; Hou Y; Zhang L; Ou R; Wei Q; Liu K; Yang T; Xiao Y; Jiang Q; Zhao B; Yang J; Chen X; Shang H
    J Neurol; 2023 Apr; 270(4):2197-2203. PubMed ID: 36648520
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Segawa disease with a novel heterozygous mutation in exon 5 of the GCH-1 gene (E183K).
    Ikeda T; Kanmura K; Kodama Y; Sawada K; Nunoi H; Hasegawa K
    Brain Dev; 2009 Feb; 31(2):173-5. PubMed ID: 18621497
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.
    Mencacci NE; Brockmann MM; Dai J; Pajusalu S; Atasu B; Campos J; Pino G; Gonzalez-Latapi P; Patzke C; Schwake M; Tucci A; Pittman A; Simon-Sanchez J; Carvill GL; Balint B; Wiethoff S; Warner TT; Papandreou A; Soo A; Rein R; Kadastik-Eerme L; Puusepp S; Reinson K; Tomberg T; Hanagasi H; Gasser T; Bhatia KP; Kurian MA; Lohmann E; Õunap K; Rosenmund C; Südhof TC; Wood NW; Krainc D; Acuna C
    J Clin Invest; 2021 Apr; 131(7):. PubMed ID: 33539324
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.