BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

182 related articles for article (PubMed ID: 35876425)

  • 1. MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
    Reid KM; Spaull R; Salian S; Barwick K; Meyer E; Zhen J; Hirata H; Sheipouri D; Benkerroum H; Gorman KM; Papandreou A; Simpson MA; Hirano Y; Farabella I; Topf M; Grozeva D; Carss K; Smith M; Pall H; Lunt P; De Gressi S; Kamsteeg EJ; Haack TB; Carr L; Guerreiro R; Bras J; Maher ER; Scott RH; Vandenberg RJ; Raymond FL; Chong WK; Sudhakar S; Mankad K; Reith ME; Campeau PM; Harvey RJ; Kurian MA
    Mov Disord; 2022 Oct; 37(10):2139-2146. PubMed ID: 35876425
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
    Meng L; Isohanni P; Shao Y; Graham BH; Hickey SE; Brooks S; Suomalainen A; Joset P; Steindl K; Rauch A; Hackenberg A; High FA; Armstrong-Javors A; Mencacci NE; Gonzàlez-Latapi P; Kamel WA; Al-Hashel JY; Bustos BI; Hernandez AV; Krainc D; Lubbe SJ; Van Esch H; De Luca C; Ballon K; Ravelli C; Burglen L; Qebibo L; Calame DG; Mitani T; Marafi D; Pehlivan D; Saadi NW; Sahin Y; Maroofian R; Efthymiou S; Houlden H; Maqbool S; Rahman F; Gu S; Posey JE; Lupski JR; Hunter JV; Wangler MF; Carroll CJ; Yang Y
    Ann Neurol; 2021 Apr; 89(4):828-833. PubMed ID: 33443317
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genetic intersection between dystonia and neurodevelopmental disorders: Insights from genomic sequencing.
    Dzinovic I; Winkelmann J; Zech M
    Parkinsonism Relat Disord; 2022 Sep; 102():131-140. PubMed ID: 36088199
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Highlighting the Dystonic Phenotype Related to GNAO1.
    Wirth T; Garone G; Kurian MA; Piton A; Millan F; Telegrafi A; Drouot N; Rudolf G; Chelly J; Marks W; Burglen L; Demailly D; Coubes P; Castro-Jimenez M; Joriot S; Ghoumid J; Belin J; Faucheux JM; Blumkin L; Hull M; Parnes M; Ravelli C; Poulen G; Calmels N; Nemeth AH; Smith M; Barnicoat A; Ewenczyk C; Méneret A; Roze E; Keren B; Mignot C; Beroud C; Acosta F; Nowak C; Wilson WG; Steel D; Capuano A; Vidailhet M; Lin JP; Tranchant C; Cif L; Doummar D; Anheim M
    Mov Disord; 2022 Jul; 37(7):1547-1554. PubMed ID: 35722775
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
    Pérez-Dueñas B; Gorman K; Marcé-Grau A; Ortigoza-Escobar JD; Macaya A; Danti FR; Barwick K; Papandreou A; Ng J; Meyer E; Mohammad SS; Smith M; Muntoni F; Munot P; Uusimaa J; Vieira P; Sheridan E; Guerrini R; Cobben J; Yilmaz S; De Grandis E; Dale RC; Pons R; Peall KJ; Leuzzi V; Kurian MA
    Mov Disord; 2022 Nov; 37(11):2197-2209. PubMed ID: 36054588
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force.
    van der Veen S; Zutt R; Klein C; Marras C; Berkovic SF; Caviness JN; Shibasaki H; de Koning TJ; Tijssen MAJ
    Mov Disord; 2019 Nov; 34(11):1602-1613. PubMed ID: 31584223
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A TNR Frameshift Variant in Weimaraner Dogs with an Exercise-Induced Paroxysmal Movement Disorder.
    Christen M; Gutierrez-Quintana R; James M; Faller KME; Lowrie M; Rusbridge C; Bossens K; Mellersh C; Pettitt L; Heinonen T; Lohi H; Jagannathan V; Leeb T
    Mov Disord; 2023 Jun; 38(6):1094-1099. PubMed ID: 37023257
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.
    Montaut S; Tranchant C; Drouot N; Rudolf G; Guissart C; Tarabeux J; Stemmelen T; Velt A; Fourrage C; Nitschké P; Gerard B; Mandel JL; Koenig M; Chelly J; Anheim M;
    JAMA Neurol; 2018 Oct; 75(10):1234-1245. PubMed ID: 29913018
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study.
    Dale RC; Grattan-Smith P; Nicholson M; Peters GB
    Dev Med Child Neurol; 2012 Jul; 54(7):618-23. PubMed ID: 22515636
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Characterization of the GABRB2-Associated Neurodevelopmental Disorders.
    El Achkar CM; Harrer M; Smith L; Kelly M; Iqbal S; Maljevic S; Niturad CE; Vissers LELM; Poduri A; Yang E; Lal D; Lerche H; Møller RS; Olson HE;
    Ann Neurol; 2021 Mar; 89(3):573-586. PubMed ID: 33325057
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A New Pathologic
    Owczarzak LR; Hogan KE; Dineen RT; Gill CE; Li MH
    Tremor Other Hyperkinet Mov (N Y); 2022; 12():7. PubMed ID: 35415007
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series.
    Dzinovic I; Škorvánek M; Necpál J; Boesch S; Švantnerová J; Wagner M; Havránková P; Pavelekova P; Haň V; Janzarik WG; Berweck S; Diebold I; Kuster A; Jech R; Winkelmann J; Zech M
    Parkinsonism Relat Disord; 2021 Sep; 90():73-78. PubMed ID: 34399161
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8.
    Doummar D; Treven M; Qebibo L; Devos D; Ghoumid J; Ravelli C; Kranz G; Krenn M; Demailly D; Cif L; Davion JB; Zimprich F; Burglen L; Zech M
    Ann Clin Transl Neurol; 2021 Oct; 8(10):1986-1990. PubMed ID: 34415117
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study.
    Zech M; Jech R; Boesch S; Škorvánek M; Necpál J; Švantnerová J; Wagner M; Sadr-Nabavi A; Distelmaier F; Krenn M; Serranová T; Rektorová I; Havránková P; Mosejová A; Příhodová I; Šarláková J; Kulcsarová K; Ulmanová O; Bechyně K; Ostrozovičová M; Haň V; Ventosa JR; Brunet T; Berutti R; Shariati M; Shoeibi A; Schneider SA; Kuster A; Baumann M; Weise D; Wilbert F; Janzarik WG; Eckenweiler M; Mall V; Haslinger B; Berweck S; Winkelmann J; Oexle K
    Mov Disord; 2021 Aug; 36(8):1959-1964. PubMed ID: 33949708
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update.
    Lange LM; Gonzalez-Latapi P; Rajalingam R; Tijssen MAJ; Ebrahimi-Fakhari D; Gabbert C; Ganos C; Ghosh R; Kumar KR; Lang AE; Rossi M; van der Veen S; van de Warrenburg B; Warner T; Lohmann K; Klein C; Marras C;
    Mov Disord; 2022 May; 37(5):905-935. PubMed ID: 35481685
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.