BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

49 related articles for article (PubMed ID: 37485550)

  • 1. CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes.
    Sorrentino U; Boesch S; Doummar D; Ravelli C; Serranova T; Indelicato E; Winkelmann J; Burglen L; Jech R; Zech M
    J Neurol; 2024 May; 271(5):2859-2865. PubMed ID: 38441608
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
    Thomsen M; Marth K; Loens S; Everding J; Junker J; Borngräber F; Ott F; Jesús S; Gelderblom M; Odorfer T; Kuhlenbäumer G; Kim HJ; Schaeffer E; Becktepe J; Kasten M; Brüggemann N; Pfister R; Kollewe K; Krauss JK; Lohmann E; Hinrichs F; Berg D; Jeon B; Busch H; Altenmüller E; Mir P; Kamm C; Volkmann J; Zittel S; Ferbert A; Zeuner KE; Rolfs A; Bauer P; Kühn AA; Bäumer T; Klein C; Lohmann K
    Mov Disord; 2024 Mar; 39(3):526-538. PubMed ID: 38214203
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
    Kaiyrzhanov R; Rad A; Lin SJ; Bertoli-Avella A; Kallemeijn WW; Godwin A; Zaki MS; Huang K; Lau T; Petree C; Efthymiou S; Karimiani EG; Hempel M; Normand EA; Rudnik-Schöneborn S; Schatz UA; Baggelaar MP; Ilyas M; Sultan T; Alvi JR; Ganieva M; Fowler B; Aanicai R; Tayfun GA; Al Saman A; Alswaid A; Amiri N; Asilova N; Shotelersuk V; Yeetong P; Azam M; Babaei M; Monajemi GB; Mohammadi P; Samie S; Banu SH; Pinto Basto J; Kortüm F; Bauer M; Bauer P; Beetz C; Garshasbi M; Issa AH; Eyaid W; Ahmed H; Hashemi N; Hassanpour K; Herman I; Ibrohimov S; Abdul-Majeed BA; Imdad M; Isrofilov M; Kaiyal Q; Khan S; Kirmse B; Koster J; Lourenço CM; Mitani T; Moldovan O; Murphy D; Najafi M; Pehlivan D; Rocha ME; Salpietro V; Schmidts M; Shalata A; Mahroum M; Talbeya JK; Taylor RW; Vazquez D; Vetro A; Waterham HR; Zaman M; Schrader TA; Chung WK; Guerrini R; Lupski JR; Gleeson J; Suri M; Jamshidi Y; Bhatia KP; Vona B; Schrader M; Severino M; Guille M; Tate EW; Varshney GK; Houlden H; Maroofian R
    Brain; 2024 Apr; 147(4):1436-1456. PubMed ID: 37951597
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The Clinical Spectrum of ANO3-Report of a New Family and Literature Review.
    Percetti M; Zini M; Soliveri P; Cogiamanian F; Ferrara M; Orunesu E; Ranghetti A; Ferrarese C; Pezzoli G; Garavaglia B; Isaias IU; Sacilotto G
    Mov Disord Clin Pract; 2024 Mar; 11(3):289-297. PubMed ID: 38284143
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies.
    van der Veen S; Tse GTW; Ferretti A; Garone G; Post B; Specchio N; Fung VSC; Trivisano M; Scheffer IE
    Neurology; 2023 Nov; 101(19):e1884-e1892. PubMed ID: 37748886
    [TBL] [Abstract][Full Text] [Related]  

  • 6. De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures.
    Keller Sarmiento IJ; Bustos BI; Blackburn J; Hac NEF; Ruzhnikov M; Monroe M; Levy RJ; Kinsley L; Li M; Silani V; Lubbe SJ; Krainc D; Mencacci NE
    Mov Disord; 2024 Apr; ():. PubMed ID: 38576116
    [TBL] [Abstract][Full Text] [Related]  

  • 7. POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation.
    Yau WY; Ashton C; Mulroy E; Foltynie T; Limousin P; Vandrovcova J; Verma KP; Stell R; Davis M; Lamont P
    Ann Clin Transl Neurol; 2024 May; ():. PubMed ID: 38700104
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel syndromic neurodevelopmental disorder caused by
    Ganesh VS; Riquin K; Chatron N; Lamar KM; Aziz MC; Monin P; O'Leary M; Goodrich JK; Garimella KV; England E; Yoon E; Weisburd B; Aguet F; Bacino CA; Murdock DR; Dai H; Rosenfeld JA; Emrick LT; Ketkar S; ; Sarusi Y; Sanlaville D; Kayani S; Broadbent B; Isidor B; Pengam A; Cogné B; MacArthur DG; Ulitsky I; Carvill GL; O'Donnell-Luria A
    medRxiv; 2024 Feb; ():. PubMed ID: 38496558
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Tremulous dystonia due to GNAL haploinsufficiency caused by 18p deletion syndrome.
    Braccia A; Carecchio M; Sciacca FL; Castagna A; Elia AE; Romito LM
    J Mov Disord; 2024 May; ():. PubMed ID: 38736233
    [No Abstract]   [Full Text] [Related]  

  • 10. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
    Maroofian R; Kaiyrzhanov R; Cali E; Zamani M; Zaki MS; Ferla M; Tortora D; Sadeghian S; Saadi SM; Abdullah U; Karimiani EG; Efthymiou S; Yeşil G; Alavi S; Al Shamsi AM; Tajsharghi H; Abdel-Hamid MS; Saadi NW; Al Mutairi F; Alabdi L; Beetz C; Ali Z; Toosi MB; Rudnik-Schöneborn S; Babaei M; Isohanni P; Muhammad J; Khan S; Al Shalan M; Hickey SE; Marom D; Elhanan E; Kurian MA; Marafi D; Saberi A; Hamid M; Spaull R; Meng L; Lalani S; Maqbool S; Rahman F; Seeger J; Palculict TB; Lau T; Murphy D; Mencacci NE; Steindl K; Begemann A; Rauch A; Akbas S; Aslanger AD; Salpietro V; Yousaf H; Ben-Shachar S; Ejeskär K; Al Aqeel AI; High FA; Armstrong-Javors AE; Zahraei SM; Seifi T; Zeighami J; Shariati G; Sedaghat A; Asl SN; Shahrooei M; Zifarelli G; Burglen L; Ravelli C; Zschocke J; Schatz UA; Ghavideldarestani M; Kamel WA; Van Esch H; Hackenberg A; Taylor JC; Al-Gazali L; Bauer P; Gleeson JJ; Alkuraya FS; Lupski JR; Galehdari H; Azizimalamiri R; Chung WK; Baig SM; Houlden H; Severino M
    Brain; 2023 Dec; 146(12):5031-5043. PubMed ID: 37517035
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1.
    Monfrini E; Pelucchi S; Hollmén M; Viitala M; Mariani R; Bertola F; Majore S; Di Fonzo A; Piperno A
    Am J Hum Genet; 2023 Aug; 110(8):1436-1443. PubMed ID: 37490907
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Filling the Gap in Assessing Pain in Dystonia.
    Tinazzi M; Artusi CA
    Mov Disord; 2023 Jul; 38(7):1121-1124. PubMed ID: 37505206
    [No Abstract]   [Full Text] [Related]  

  • 13. eIF2α phosphorylation evokes dystonia-like movements with D2-receptor and cholinergic origin and abnormal neuronal connectivity.
    Lewis SA; Forstrom J; Tavani J; Schafer R; Tiede Z; Padilla-Lopez SR; Kruer MC
    bioRxiv; 2024 May; ():. PubMed ID: 38798458
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The integrated stress response pathway and neuromodulator signaling in the brain: lessons learned from dystonia.
    Calakos N; Caffall ZF
    J Clin Invest; 2024 Apr; 134(7):. PubMed ID: 38557486
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Update on KMT2B-Related Dystonia.
    Zech M; Lam DD; Winkelmann J
    Curr Neurol Neurosci Rep; 2019 Nov; 19(11):92. PubMed ID: 31768667
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 3.