BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

153 related articles for article (PubMed ID: 36933031)

  • 1. Mutation screening of AOPEP variants in a large dystonia cohort.
    Lin J; Li C; Cui Y; Hou Y; Zhang L; Ou R; Wei Q; Liu K; Huang R; Yang T; Xiao Y; Jiang Q; Yang J; Chen X; Shang H
    J Neurol; 2023 Jun; 270(6):3225-3233. PubMed ID: 36933031
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. [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]  

  • 7. AOPEP Homozygous Loss-of-Function Variant in an Indian Patient with Early-Onset Generalized Dystonia.
    Fevga C; Ferraro F; Breedveld GJ; Savant Sankhla C; Bonifati V
    Mov Disord; 2022 Apr; 37(4):874-875. PubMed ID: 35072283
    [No Abstract]   [Full Text] [Related]  

  • 8. 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]  

  • 9. Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study.
    Wadon ME; Fenner E; Kendall KM; Bailey GA; Sandor C; Rees E; Peall KJ
    J Neurol; 2022 Dec; 269(12):6436-6451. PubMed ID: 35925398
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [A childhood-onset rapid-onset dystonia parkinsonism family with ATP1A3 gene mutation and literatures review].
    Zhang CL; Yin F; He F; Gai N; Shi ZQ; Peng J
    Zhonghua Er Ke Za Zhi; 2017 Apr; 55(4):288-293. PubMed ID: 28441826
    [No Abstract]   [Full Text] [Related]  

  • 11. 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]  

  • 12. Expanded Genetic Spectrum and Variable Disease Onset in AOPEP-Associated Dystonia.
    Menden B; Gutschalk A; Wunderlich G; Haack TB
    Mov Disord; 2022 May; 37(5):1113-1115. PubMed ID: 35587627
    [No Abstract]   [Full Text] [Related]  

  • 13. A novel compound heterozygous mutation of
    Wu R; Dou W; Zhou H; Shi M
    Front Neurol; 2023; 14():1105760. PubMed ID: 37082441
    [TBL] [Abstract][Full Text] [Related]  

  • 14. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
    Cif L; Demailly D; Lin JP; Barwick KE; Sa M; Abela L; Malhotra S; Chong WK; Steel D; Sanchis-Juan A; Ngoh A; Trump N; Meyer E; Vasques X; Rankin J; Allain MW; Applegate CD; Attaripour Isfahani S; Baleine J; Balint B; Bassetti JA; Baple EL; Bhatia KP; Blanchet C; Burglen L; Cambonie G; Seng EC; Bastaraud SC; Cyprien F; Coubes C; d'Hardemare V; ; Doja A; Dorison N; Doummar D; Dy-Hollins ME; Farrelly E; Fitzpatrick DR; Fearon C; Fieg EL; Fogel BL; Forman EB; Fox RG; ; Gahl WA; Galosi S; Gonzalez V; Graves TD; Gregory A; Hallett M; Hasegawa H; Hayflick SJ; Hamosh A; Hully M; Jansen S; Jeong SY; Krier JB; Krystal S; Kumar KR; Laurencin C; Lee H; Lesca G; François LL; Lynch T; Mahant N; Martinez-Agosto JA; Milesi C; Mills KA; Mondain M; Morales-Briceno H; ; Ostergaard JR; Pal S; Pallais JC; Pavillard F; Perrigault PF; Petersen AK; Polo G; Poulen G; Rinne T; Roujeau T; Rogers C; Roubertie A; Sahagian M; Schaefer E; Selim L; Selway R; Sharma N; Signer R; Soldatos AG; Stevenson DA; Stewart F; Tchan M; ; Verma IC; de Vries BBA; Wilson JL; Wong DA; Zaitoun R; Zhen D; Znaczko A; Dale RC; de Gusmão CM; Friedman J; Fung VSC; King MD; Mohammad SS; Rohena L; Waugh JL; Toro C; Raymond FL; Topf M; Coubes P; Gorman KM; Kurian MA
    Brain; 2020 Dec; 143(11):3242-3261. PubMed ID: 33150406
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.
    Carecchio M; Invernizzi F; Gonzàlez-Latapi P; Panteghini C; Zorzi G; Romito L; Leuzzi V; Galosi S; Reale C; Zibordi F; Joseph AP; Topf M; Piano C; Bentivoglio AR; Girotti F; Morana P; Morana B; Kurian MA; Garavaglia B; Mencacci NE; Lubbe SJ; Nardocci N
    Mov Disord; 2019 Oct; 34(10):1516-1527. PubMed ID: 31216378
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants.
    Salamon A; Nagy ZF; Pál M; Szabó M; Csősz Á; Szpisjak L; Gárdián G; Zádori D; Széll M; Klivényi P
    Int J Mol Sci; 2023 Jun; 24(13):. PubMed ID: 37445923
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset.
    Todisco M; Gana S; Cosentino G; Errichiello E; Arceri S; Avenali M; Valente EM; Alfonsi E
    Parkinsonism Relat Disord; 2020 Sep; 78():129-133. PubMed ID: 32823241
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic screening of THAP1 in primary dystonia patients of India.
    Giri S; Naiya T; Equbal Z; Sankhla CS; Das SK; Ray K; Ray J
    Neurosci Lett; 2017 Jan; 637():31-37. PubMed ID: 27913194
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The phenotypic spectrum of DYT24 due to ANO3 mutations.
    Stamelou M; Charlesworth G; Cordivari C; Schneider SA; Kägi G; Sheerin UM; Rubio-Agusti I; Batla A; Houlden H; Wood NW; Bhatia KP
    Mov Disord; 2014 Jun; 29(7):928-34. PubMed ID: 24442708
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.